Details for: ATP7B

Gene ID: 540

Symbol: ATP7B

Ensembl ID: ENSG00000123191

Description: ATPase copper transporting beta

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 81.5197
    Cell Significance Index: -12.6800
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 53.7369
    Cell Significance Index: -13.6300
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 12.9459
    Cell Significance Index: -12.3600
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 10.9493
    Cell Significance Index: -13.5000
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 1.6234
    Cell Significance Index: 35.1700
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.2720
    Cell Significance Index: 252.4400
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 1.1543
    Cell Significance Index: 32.9400
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.1439
    Cell Significance Index: 186.0500
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.9880
    Cell Significance Index: 28.4700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.8571
    Cell Significance Index: 171.9400
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.8131
    Cell Significance Index: 48.8200
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.6953
    Cell Significance Index: 68.7800
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.6924
    Cell Significance Index: 15.1600
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: 0.6098
    Cell Significance Index: 9.1900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.6091
    Cell Significance Index: 27.6100
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.5702
    Cell Significance Index: 62.0300
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.5683
    Cell Significance Index: 66.2300
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.5224
    Cell Significance Index: 23.1100
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.4936
    Cell Significance Index: 18.6900
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.4825
    Cell Significance Index: 173.0500
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.3870
    Cell Significance Index: 5.2800
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.3440
    Cell Significance Index: 310.5700
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.3379
    Cell Significance Index: 23.3700
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.3376
    Cell Significance Index: 22.7000
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.3166
    Cell Significance Index: 8.4600
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.2806
    Cell Significance Index: 194.0600
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.2790
    Cell Significance Index: 17.1500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.2703
    Cell Significance Index: 20.7400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.2524
    Cell Significance Index: 15.9100
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.2505
    Cell Significance Index: 4.2200
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.2320
    Cell Significance Index: 5.8000
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.1555
    Cell Significance Index: 3.7300
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.1417
    Cell Significance Index: 2.9400
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1225
    Cell Significance Index: 23.3100
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.1181
    Cell Significance Index: 2.5200
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0990
    Cell Significance Index: 3.4800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0607
    Cell Significance Index: 10.9400
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0484
    Cell Significance Index: 0.8300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0449
    Cell Significance Index: 24.5000
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.0285
    Cell Significance Index: 1.6000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0108
    Cell Significance Index: 20.4100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0057
    Cell Significance Index: 10.5400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0040
    Cell Significance Index: 6.2200
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0031
    Cell Significance Index: 4.2600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0000
    Cell Significance Index: -0.0100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0025
    Cell Significance Index: -1.1500
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0108
    Cell Significance Index: -4.7700
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: -0.0153
    Cell Significance Index: -0.2200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0156
    Cell Significance Index: -0.8100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0172
    Cell Significance Index: -12.5800
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0177
    Cell Significance Index: -13.0900
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0192
    Cell Significance Index: -14.5400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0195
    Cell Significance Index: -2.4000
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0214
    Cell Significance Index: -3.1100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0247
    Cell Significance Index: -13.9400
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0251
    Cell Significance Index: -15.7000
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0299
    Cell Significance Index: -3.8400
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.0321
    Cell Significance Index: -0.5400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0386
    Cell Significance Index: -11.1200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0426
    Cell Significance Index: -7.2800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0671
    Cell Significance Index: -9.2200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0746
    Cell Significance Index: -15.7200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0784
    Cell Significance Index: -4.8100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0843
    Cell Significance Index: -3.9300
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0959
    Cell Significance Index: -9.8000
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0999
    Cell Significance Index: -3.2000
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1008
    Cell Significance Index: -2.5900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1028
    Cell Significance Index: -11.7800
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1073
    Cell Significance Index: -13.8600
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.1079
    Cell Significance Index: -2.2900
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.1117
    Cell Significance Index: -1.6000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1144
    Cell Significance Index: -11.9100
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1292
    Cell Significance Index: -15.2400
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1299
    Cell Significance Index: -9.1900
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.1314
    Cell Significance Index: -1.9400
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: -0.1406
    Cell Significance Index: -1.4500
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1478
    Cell Significance Index: -7.7000
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.1485
    Cell Significance Index: -1.7700
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.1499
    Cell Significance Index: -3.0100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1693
    Cell Significance Index: -12.6200
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1751
    Cell Significance Index: -13.8700
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.1881
    Cell Significance Index: -3.7200
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.1887
    Cell Significance Index: -2.4200
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1931
    Cell Significance Index: -6.1500
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.1937
    Cell Significance Index: -2.8600
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.2064
    Cell Significance Index: -4.4600
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.2196
    Cell Significance Index: -7.1900
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.2215
    Cell Significance Index: -10.4100
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: -0.2324
    Cell Significance Index: -3.1000
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.2353
    Cell Significance Index: -15.1800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.2388
    Cell Significance Index: -12.5400
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.2469
    Cell Significance Index: -6.9000
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.2563
    Cell Significance Index: -8.9800
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.2666
    Cell Significance Index: -2.7600
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.2943
    Cell Significance Index: -7.3400
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.3023
    Cell Significance Index: -3.7700
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.3057
    Cell Significance Index: -6.3800
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.3085
    Cell Significance Index: -13.4200
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.3146
    Cell Significance Index: -7.6200
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.3454
    Cell Significance Index: -4.3600

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** 1. **Copper Transport**: The ATP7B protein is a copper-transporting ATPase that facilitates the transport of copper ions across the plasma membrane. 2. **P-type ATPase**: ATP7B belongs to the P-type ATPase family, which utilizes ATP hydrolysis to drive the transport of ions across the membrane. 3. **Dual Function**: The protein has both copper-import and copper-export functions, allowing it to regulate the levels of copper ions within the cell. 4. **Cellular Localization**: ATP7B is primarily localized to the Golgi apparatus and the plasma membrane, where it can interact with other proteins and regulate copper transport. **Pathways and Functions** 1. **Copper Homeostasis**: The ATP7B protein plays a central role in maintaining copper homeostasis within the cell, regulating the levels of copper ions and preventing their accumulation or depletion. 2. **Ion Transport**: ATP7B facilitates the transport of copper ions across the plasma membrane, allowing for the regulation of copper levels within the cell. 3. **Protein Maturation**: The protein is involved in the maturation of certain proteins by transferring copper ions, which is essential for their proper functioning. 4. **Xenobiotic Detoxification**: ATP7B may also play a role in the detoxification of xenobiotics, such as heavy metals, by transporting them across the plasma membrane. **Clinical Significance** 1. **Menkes Disease**: Mutations in the ATP7B gene are associated with Menkes disease, a rare genetic disorder characterized by copper deficiency and neurological impairment. 2. **Wilson Disease**: Similar mutations in the ATP7B gene are also linked to Wilson disease, a genetic disorder that causes copper accumulation in the liver and brain. 3. **Neurodegenerative Diseases**: Abnormal copper transport and accumulation have been implicated in various neurodegenerative diseases, including Alzheimer's disease and Parkinson's disease. 4. **Cancer**: ATP7B has been shown to play a role in cancer development, as it can influence the regulation of copper levels and the function of certain proteins involved in cancer cell growth and survival. In conclusion, the ATP7B gene plays a critical role in maintaining cellular copper homeostasis, regulating ion transport, and influencing protein maturation. Its dysregulation has been implicated in various diseases, including Menkes disease, Wilson disease, and neurodegenerative disorders. Further research is needed to fully understand the functions and clinical significance of the ATP7B gene.

Genular Protein ID: 2491621934

Symbol: ATP7B_HUMAN

Name: Copper-transporting ATPase 2

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 7833924

Title: Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions.

PubMed ID: 7833924

DOI: 10.1093/hmg/3.9.1647

PubMed ID: 15057823

Title: The DNA sequence and analysis of human chromosome 13.

PubMed ID: 15057823

DOI: 10.1038/nature02379

PubMed ID: 10334941

Title: Cloning and characterization of the promoter region of the Wilson disease gene.

PubMed ID: 10334941

DOI: 10.1006/bbrc.1999.0732

PubMed ID: 8298639

Title: The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene.

PubMed ID: 8298639

DOI: 10.1038/ng1293-327

PubMed ID: 8298641

Title: The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene.

PubMed ID: 8298641

DOI: 10.1038/ng1293-344

PubMed ID: 8250934

Title: Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease.

PubMed ID: 8250934

DOI: 10.1006/bbrc.1993.2471

PubMed ID: 7626145

Title: The Wilson disease gene: spectrum of mutations and their consequences.

PubMed ID: 7626145

DOI: 10.1038/ng0295-210

PubMed ID: 9307043

Title: Two forms of Wilson disease protein produced by alternative splicing are localized in distinct cellular compartments.

PubMed ID: 9307043

DOI: 10.1042/bj3260897

PubMed ID: 10942420

Title: Copper-dependent trafficking of Wilson disease mutant ATP7B proteins.

PubMed ID: 10942420

DOI: 10.1093/hmg/9.13.1927

PubMed ID: 11231950

Title: A mutation of the Wilson disease protein, ATP7B, is degraded in the proteasomes and forms protein aggregates.

PubMed ID: 11231950

DOI: 10.1053/gast.2001.22543

PubMed ID: 12551905

Title: The role of the invariant His-1069 in folding and function of the Wilson's disease protein, the human copper-transporting ATPase ATP7B.

PubMed ID: 12551905

DOI: 10.1074/jbc.m300034200

PubMed ID: 15681833

Title: The Wilson disease protein ATP7B resides in the late endosomes with Rab7 and the Niemann-Pick C1 protein.

PubMed ID: 15681833

DOI: 10.1016/s0002-9440(10)62272-9

PubMed ID: 16676348

Title: A new hepatocytic isoform of PLZF lacking the BTB domain interacts with ATP7B, the Wilson disease protein, and positively regulates ERK signal transduction.

PubMed ID: 16676348

DOI: 10.1002/jcb.20980

PubMed ID: 17919502

Title: Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B.

PubMed ID: 17919502

DOI: 10.1053/j.gastro.2007.07.020

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 9837819

Title: Functional characterization of missense mutations in ATP7B: Wilson disease mutation or normal variant?

PubMed ID: 9837819

DOI: 10.1086/302163

PubMed ID: 9600907

Title: Localization of the Wilson's disease protein product to mitochondria.

PubMed ID: 9600907

DOI: 10.1073/pnas.95.11.6004

PubMed ID: 12968035

Title: The copper toxicosis gene product Murr1 directly interacts with the Wilson disease protein.

PubMed ID: 12968035

DOI: 10.1074/jbc.c300391200

PubMed ID: 16554302

Title: Copper-dependent interaction of dynactin subunit p62 with the N terminus of ATP7B but not ATP7A.

PubMed ID: 16554302

DOI: 10.1074/jbc.m512745200

PubMed ID: 20032459

Title: Interactions between copper-binding sites determine the redox status and conformation of the regulatory N-terminal domain of ATP7B.

PubMed ID: 20032459

DOI: 10.1074/jbc.m109.074633

PubMed ID: 11405812

Title: Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in chinese patients with Wilson disease.

PubMed ID: 11405812

DOI: 10.1001/archneur.58.6.971

PubMed ID: 16649058

Title: Mutation analysis of 218 Chinese patients with Wilson disease revealed no correlation between the canine copper toxicosis gene MURR1 and Wilson disease.

PubMed ID: 16649058

DOI: 10.1007/s00109-005-0036-y

PubMed ID: 17823867

Title: Molecular pathogenesis of Wilson disease among Indians: a perspective on mutation spectrum in ATP7B gene, prevalent defects, clinical heterogeneity and implication towards diagnosis.

PubMed ID: 17823867

DOI: 10.1007/s10571-007-9192-7

PubMed ID: 17949296

Title: Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin.

PubMed ID: 17949296

DOI: 10.1089/gte.2007.0015

PubMed ID: 19033537

Title: Apical targeting and Golgi retention signals reside within a 9-amino acid sequence in the copper-ATPase, ATP7B.

PubMed ID: 19033537

DOI: 10.1152/ajpgi.90489.2008

PubMed ID: 21454443

Title: Critical roles for the COOH terminus of the Cu-ATPase ATP7B in protein stability, trans-Golgi network retention, copper sensing, and retrograde trafficking.

PubMed ID: 21454443

DOI: 10.1152/ajpgi.00038.2011

PubMed ID: 21398519

Title: Difference in stability of the N-domain underlies distinct intracellular properties of the E1064A and H1069Q mutants of copper-transporting ATPase ATP7B.

PubMed ID: 21398519

DOI: 10.1074/jbc.m110.198101

PubMed ID: 21645214

Title: Distinct clinical courses according to presenting phenotypes and their correlations to ATP7B mutations in a large Wilson's disease cohort.

PubMed ID: 21645214

DOI: 10.1111/j.1478-3231.2011.02503.x

PubMed ID: 21406592

Title: Cellular copper levels determine the phenotype of the Arg875 variant of ATP7B/Wilson disease protein.

PubMed ID: 21406592

DOI: 10.1073/pnas.1014959108

PubMed ID: 22240481

Title: Diverse functional properties of Wilson disease ATP7B variants.

PubMed ID: 22240481

DOI: 10.1053/j.gastro.2011.12.048

PubMed ID: 22763723

Title: Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study.

PubMed ID: 22763723

DOI: 10.1038/jhg.2012.65

PubMed ID: 22075048

Title: New novel mutation of the ATP7B gene in a family with Wilson disease.

PubMed ID: 22075048

DOI: 10.1016/j.jns.2011.09.007

PubMed ID: 22484412

Title: Mutation analysis of the ATP7B gene in a new group of Wilson's disease patients: contribution to diagnosis.

PubMed ID: 22484412

DOI: 10.1016/j.mcp.2012.03.007

PubMed ID: 23518715

Title: A genetic study of Wilson's disease in the United Kingdom.

PubMed ID: 23518715

DOI: 10.1093/brain/awt035

PubMed ID: 23159873

Title: A new ATP7B gene mutation with severe condition in two unrelated Iranian families with Wilson disease.

PubMed ID: 23159873

DOI: 10.1016/j.gene.2012.10.085

PubMed ID: 23235335

Title: Mutational analysis of ATP7B in north Chinese patients with Wilson disease.

PubMed ID: 23235335

DOI: 10.1038/jhg.2012.134

PubMed ID: 23275100

Title: Identification of one novel and nine recurrent mutations of the ATP7B gene in 11 children with Wilson disease.

PubMed ID: 23275100

DOI: 10.1007/s12519-012-0388-7

PubMed ID: 24555712

Title: Evidence for synergistic effects of PRNP and ATP7B mutations in severe neuropsychiatric deterioration.

PubMed ID: 24555712

DOI: 10.1186/1471-2350-15-22

PubMed ID: 24706876

Title: Distinct phenotype of a Wilson disease mutation reveals a novel trafficking determinant in the copper transporter ATP7B.

PubMed ID: 24706876

DOI: 10.1073/pnas.1314161111

PubMed ID: 18558714

Title: Metal binding domains 3 and 4 of the Wilson disease protein: solution structure and interaction with the copper(I) chaperone HAH1.

PubMed ID: 18558714

DOI: 10.1021/bi8004736

PubMed ID: 8533760

Title: Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations.

PubMed ID: 8533760

PubMed ID: 8938442

Title: Efficient detection of mutations in Wilson disease by manifold sequencing.

PubMed ID: 8938442

DOI: 10.1006/geno.1996.0564

PubMed ID: 8931691

Title: Wilson disease mutations associated with uncommon haplotypes in Mediterranean patients.

PubMed ID: 8931691

DOI: 10.1007/s004390050275

PubMed ID: 8782057

Title: High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease.

PubMed ID: 8782057

DOI: 10.1136/jmg.33.6.521

PubMed ID: 9311736

Title: Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses.

PubMed ID: 9311736

DOI: 10.1086/514864

PubMed ID: 9772425

Title: Identification of a novel missense mutation in Wilson's disease gene.

PubMed ID: 9772425

PubMed ID: 9222767

Title: 24 bp deletion and Ala1278 to Val mutation of the ATP7B gene in a Sardinian family with Wilson disease.

PubMed ID: 9222767

DOI: 10.1002/(sici)1098-1004(1997)10:1<84::aid-humu14>3.0.co;2-w

PubMed ID: 8980283

Title: A homozygous nonsense mutation and a combination of two mutations of the Wilson disease gene in patients with different lysyl oxidase activities in cultured fibroblasts.

PubMed ID: 8980283

DOI: 10.1111/1523-1747.ep12285622

PubMed ID: 9887381

Title: His1069Gln and six novel Wilson disease mutations: analysis of relevance for early diagnosis and phenotype.

PubMed ID: 9887381

DOI: 10.1038/sj.ejhg.5200237

PubMed ID: 9482578

Title: Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups.

PubMed ID: 9482578

DOI: 10.1002/(sici)1098-1004(1998)11:2<145::aid-humu7>3.0.co;2-i

PubMed ID: 9554743

Title: Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease.

PubMed ID: 9554743

DOI: 10.1002/(sici)1098-1004(1998)11:4<275::aid-humu4>3.0.co;2-l

PubMed ID: 9452121

Title: Mutations of ATP7B gene in Wilson disease in Japan: identification of nine mutations and lack of clear founder effect in a Japanese population.

PubMed ID: 9452121

DOI: 10.1002/humu.13801101100

PubMed ID: 9671269

Title: Further delineation of the molecular pathology of Wilson disease in the Mediterranean population.

PubMed ID: 9671269

DOI: 10.1002/(sici)1098-1004(1998)12:2<89::aid-humu3>3.0.co;2-g

PubMed ID: 9829905

Title: Mutation analysis of Wilson disease in Taiwan and description of six new mutations.

PubMed ID: 9829905

DOI: 10.1002/(sici)1098-1004(1998)12:6<370::aid-humu2>3.0.co;2-s

PubMed ID: 10194254

Title: Missense mutations of exons 14 and 18 of Wilson's disease gene in Chinese patients.

PubMed ID: 10194254

PubMed ID: 10447265

Title: Mutation analysis in patients with Wilson disease: identification of 4 novel mutations.

PubMed ID: 10447265

DOI: 10.1002/(sici)1098-1004(1999)14:1<88::aid-humu15>3.0.co;2-h

PubMed ID: 10502776

Title: Molecular characterization of Wilson disease in the Sardinian population -- evidence of a founder effect.

PubMed ID: 10502776

DOI: 10.1002/(sici)1098-1004(199910)14:4<294::aid-humu4>3.0.co;2-9

PubMed ID: 10502777

Title: A study of Wilson disease mutations in Britain.

PubMed ID: 10502777

DOI: 10.1002/(sici)1098-1004(199910)14:4<304::aid-humu5>3.0.co;2-w

PubMed ID: 10051024

Title: The His1069Gln mutation in the ATP7B gene in Russian patients with Wilson disease.

PubMed ID: 10051024

PubMed ID: 10544227

Title: Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations.

PubMed ID: 10544227

PubMed ID: 10453196

Title: Molecular analysis and diagnosis in Japanese patients with Wilson's disease.

PubMed ID: 10453196

DOI: 10.1046/j.1442-200x.1999.01092.x

PubMed ID: 11216666

Title: Delineation of the spectrum of Wilson disease mutations in the Greek population and the identification of six novel mutations.

PubMed ID: 11216666

DOI: 10.1089/109065700750065162

PubMed ID: 11093740

Title: High prevalence of the very rare Wilson disease gene mutation Leu708Pro in the Island of Gran Canaria (Canary Islands, Spain): a genetic and clinical study.

PubMed ID: 11093740

DOI: 10.1053/jhep.2000.20152

PubMed ID: 10790207

Title: Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease.

PubMed ID: 10790207

DOI: 10.1002/(sici)1098-1004(200005)15:5<454::aid-humu7>3.0.co;2-j

PubMed ID: 10721669

Title: Novel mutations of the ATP7B gene in Japanese patients with Wilson disease.

PubMed ID: 10721669

DOI: 10.1007/s100380050017

PubMed ID: 11043508

Title: Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation association.

PubMed ID: 11043508

DOI: 10.1007/s100380070015

PubMed ID: 11180609

Title: Three novel mutations (P760L, L1305P, Q1351Stop) causing Wilson disease.

PubMed ID: 11180609

DOI: 10.1002/1098-1004(200102)17:2<156::aid-humu18>3.0.co;2-0

PubMed ID: 11690702

Title: High prevalence of the H1069Q mutation in East German patients with Wilson disease: rapid detection of mutations by limited sequencing and phenotype-genotype analysis.

PubMed ID: 11690702

DOI: 10.1016/s0168-8278(01)00219-7

PubMed ID: 11243728

Title: Molecular diagnosis of Wilson disease.

PubMed ID: 11243728

DOI: 10.1006/mgme.2000.3143

PubMed ID: 11954751

Title: Presymptomatic diagnosis of Wilson disease associated with a novel mutation of the ATP7B gene.

PubMed ID: 11954751

DOI: 10.1007/s00431-001-0865-9

PubMed ID: 12544487

Title: Identification of novel mutations and the three most common mutations in the human ATP7B gene of Korean patients with Wilson disease.

PubMed ID: 12544487

DOI: 10.1097/00125817-200211001-00009

PubMed ID: 12325021

Title: Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B.

PubMed ID: 12325021

DOI: 10.1002/humu.10121

PubMed ID: 12376745

Title: Two families with Wilson disease in which siblings showed different phenotypes.

PubMed ID: 12376745

DOI: 10.1007/s100380200082

PubMed ID: 14986826

Title: Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease.

PubMed ID: 14986826

DOI: 10.1046/j.1399-0004.2003.00179.x

PubMed ID: 14639035

Title: A rare homozygous missense mutation in ATP7B exon 19 in a case of Wilson disease.

PubMed ID: 14639035

DOI: 10.1159/000075092

PubMed ID: 15024742

Title: Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients.

PubMed ID: 15024742

DOI: 10.1002/humu.9227

PubMed ID: 15557537

Title: Strokelike presentation of Wilson disease with homozygosity for a novel T766R mutation.

PubMed ID: 15557537

DOI: 10.1212/01.wnl.0000144192.30426.38

PubMed ID: 14966923

Title: Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease.

PubMed ID: 14966923

DOI: 10.3748/wjg.v10.i4.590

PubMed ID: 15845031

Title: Wilson disease: high prevalence in a mountainous area of Crete.

PubMed ID: 15845031

DOI: 10.1046/j.1529-8817.2005.00171.x

PubMed ID: 15811015

Title: Identification and molecular characterization of 18 novel mutations in the ATP7B gene from Indian Wilson disease patients: genotype.

PubMed ID: 15811015

DOI: 10.1111/j.1399-0004.2005.00440.x

PubMed ID: 15952988

Title: Mutation analysis of Wilson disease in the Spanish population -identification of a prevalent substitution and eight novel mutations in the ATP7B gene.

PubMed ID: 15952988

DOI: 10.1111/j.1399-0004.2005.00439.x

PubMed ID: 16207219

Title: Spectrum of mutations in the Wilson disease gene (ATP7B) in the Bulgarian population.

PubMed ID: 16207219

DOI: 10.1111/j.1399-0004.2005.00516.x

PubMed ID: 16283883

Title: Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease.

PubMed ID: 16283883

DOI: 10.1111/j.1399-0004.2005.00528.x

PubMed ID: 16088907

Title: Twenty-four novel mutations in Wilson disease patients of predominantly European ancestry.

PubMed ID: 16088907

DOI: 10.1002/humu.9358

PubMed ID: 15967699

Title: Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease.

PubMed ID: 15967699

DOI: 10.1016/j.ymgme.2005.05.004

PubMed ID: 17718866

Title: Early and severe liver disease associated with homozygosity for an exon 7 mutation, G691R, in Wilson's disease.

PubMed ID: 17718866

DOI: 10.1111/j.1399-0004.2007.00853.x

PubMed ID: 18373411

Title: New mutations in the Wilson disease gene, ATP7B: implications for molecular testing.

PubMed ID: 18373411

DOI: 10.1089/gte.2007.0072

PubMed ID: 18203200

Title: Sequence variation in the ATP-binding domain of the Wilson disease transporter, ATP7B, affects copper transport in a yeast model system.

PubMed ID: 18203200

DOI: 10.1002/humu.20674

PubMed ID: 20333758

Title: Functional analysis of mutations in the ATP loop of the Wilson disease copper transporter, ATP7B.

PubMed ID: 20333758

DOI: 10.1002/humu.21228

PubMed ID: 21682854

Title: Phenotypic and genetic characterization of a cohort of pediatric Wilson disease patients.

PubMed ID: 21682854

DOI: 10.1186/1471-2431-11-56

PubMed ID: 23333878

Title: Mutation analysis of ATP7B gene in Turkish Wilson disease patients: identification of five novel mutations.

PubMed ID: 23333878

DOI: 10.1016/j.ejmg.2013.01.003

PubMed ID: 24303094

Title: Diagnostic challenges of Wilson's disease presenting as acute pancreatitis, cholangitis, and jaundice.

PubMed ID: 24303094

DOI: 10.4254/wjh.v5.i11.649

PubMed ID: 24476933

Title: A novel ATP7B gene mutation in a liver failure patient with normal ceruloplasmin and low serum alkaline phosphatase.

PubMed ID: 24476933

DOI: 10.1016/j.gene.2013.10.044

PubMed ID: 23962630

Title: Pathogenic compound heterozygous ATP7B mutations with hypoceruloplasminaemia without clinical features of Wilson's disease.

PubMed ID: 23962630

DOI: 10.1016/j.jocn.2013.02.030

PubMed ID: 25704634

Title: Genetic and clinical analysis in a cohort of patients with Wilson's disease in southwestern China.

PubMed ID: 25704634

DOI: 10.1016/j.arcmed.2015.02.001

PubMed ID: 25982861

Title: Spectrum of mutations in the ATP binding domain of ATP7B gene of Wilson Disease in a regional Indian cohort.

PubMed ID: 25982861

DOI: 10.1016/j.gene.2015.05.031

PubMed ID: 26004889

Title: Functional characterization of new mutations in Wilson disease gene (ATP7B) using the yeast model.

PubMed ID: 26004889

DOI: 10.1016/j.jtemb.2015.02.006

PubMed ID: 28107647

Title: Programmed ribosomal frameshifting generates a copper transporter and a copper chaperone from the same gene.

PubMed ID: 28107647

DOI: 10.1016/j.molcel.2016.12.008

PubMed ID: 28856630

Title: Identification of two novel mutations in the ATP7B gene that cause Wilson's disease.

PubMed ID: 28856630

DOI: 10.1007/s12519-017-0055-0

PubMed ID: 32284880

Title: ATP7B variant c.1934T > G p.Met645Arg causes Wilson disease by promoting exon 6 skipping.

PubMed ID: 32284880

DOI: 10.1038/s41525-020-0123-6

Sequence Information:

  • Length: 1465
  • Mass: 157263
  • Checksum: 419145448F9E959A
  • Sequence:
  • MPEQERQITA REGASRKILS KLSLPTRAWE PAMKKSFAFD NVGYEGGLDG LGPSSQVATS 
    TVRILGMTCQ SCVKSIEDRI SNLKGIISMK VSLEQGSATV KYVPSVVCLQ QVCHQIGDMG 
    FEASIAEGKA ASWPSRSLPA QEAVVKLRVE GMTCQSCVSS IEGKVRKLQG VVRVKVSLSN 
    QEAVITYQPY LIQPEDLRDH VNDMGFEAAI KSKVAPLSLG PIDIERLQST NPKRPLSSAN 
    QNFNNSETLG HQGSHVVTLQ LRIDGMHCKS CVLNIEENIG QLLGVQSIQV SLENKTAQVK 
    YDPSCTSPVA LQRAIEALPP GNFKVSLPDG AEGSGTDHRS SSSHSPGSPP RNQVQGTCST 
    TLIAIAGMTC ASCVHSIEGM ISQLEGVQQI SVSLAEGTAT VLYNPSVISP EELRAAIEDM 
    GFEASVVSES CSTNPLGNHS AGNSMVQTTD GTPTSVQEVA PHTGRLPANH APDILAKSPQ 
    STRAVAPQKC FLQIKGMTCA SCVSNIERNL QKEAGVLSVL VALMAGKAEI KYDPEVIQPL 
    EIAQFIQDLG FEAAVMEDYA GSDGNIELTI TGMTCASCVH NIESKLTRTN GITYASVALA 
    TSKALVKFDP EIIGPRDIIK IIEEIGFHAS LAQRNPNAHH LDHKMEIKQW KKSFLCSLVF 
    GIPVMALMIY MLIPSNEPHQ SMVLDHNIIP GLSILNLIFF ILCTFVQLLG GWYFYVQAYK 
    SLRHRSANMD VLIVLATSIA YVYSLVILVV AVAEKAERSP VTFFDTPPML FVFIALGRWL 
    EHLAKSKTSE ALAKLMSLQA TEATVVTLGE DNLIIREEQV PMELVQRGDI VKVVPGGKFP 
    VDGKVLEGNT MADESLITGE AMPVTKKPGS TVIAGSINAH GSVLIKATHV GNDTTLAQIV 
    KLVEEAQMSK APIQQLADRF SGYFVPFIII MSTLTLVVWI VIGFIDFGVV QRYFPNPNKH 
    ISQTEVIIRF AFQTSITVLC IACPCSLGLA TPTAVMVGTG VAAQNGILIK GGKPLEMAHK 
    IKTVMFDKTG TITHGVPRVM RVLLLGDVAT LPLRKVLAVV GTAEASSEHP LGVAVTKYCK 
    EELGTETLGY CTDFQAVPGC GIGCKVSNVE GILAHSERPL SAPASHLNEA GSLPAEKDAV 
    PQTFSVLIGN REWLRRNGLT ISSDVSDAMT DHEMKGQTAI LVAIDGVLCG MIAIADAVKQ 
    EAALAVHTLQ SMGVDVVLIT GDNRKTARAI ATQVGINKVF AEVLPSHKVA KVQELQNKGK 
    KVAMVGDGVN DSPALAQADM GVAIGTGTDV AIEAADVVLI RNDLLDVVAS IHLSKRTVRR 
    IRINLVLALI YNLVGIPIAA GVFMPIGIVL QPWMGSAAMA ASSVSVVLSS LQLKCYKKPD 
    LERYEAQAHG HMKPLTASQV SVHIGMDDRW RDSPRATPWD QVSYVSQVSL SSLTSDKPSR 
    HSAAADDDGD KWSLLLNGRD EEQYI

Genular Protein ID: 2227863340

Symbol: E7ET55_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15057823

Title: The DNA sequence and analysis of human chromosome 13.

PubMed ID: 15057823

DOI: 10.1038/nature02379

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

Sequence Information:

  • Length: 1381
  • Mass: 147638
  • Checksum: B0737E4D897D71E3
  • Sequence:
  • MPEQERQITA REGASRKILS KLSLPTRAWE PAMKKSFAFD NVGYEGGLDG LGPSSQVATS 
    TVRILGMTCQ SCVKSIEDRI SNLKGIISMK VSLEQGSATV KYVPSVVCLQ QVCHQIGDMG 
    FEASIAEGKA ASWPSRSLPA QEAVVKLRVE GMTCQSCVSS IEGKVRKLQG VVRVKVSLSN 
    QEAVITYQPY LIQPEDLRDH VNDMGFEAAI KSKVAPLSLG PIDIERLQST NPKRPLSSAN 
    QNFNNSETLG HQGSHVVTLQ LRIDGMHCKS CVLNIEENIG QLLGVQSIQV SLENKTAQVK 
    YDPSCTSPVA LQRAIEALPP GNFKVSLPDG AEGSGTDHRS SSSHSPGSPP RNQVQGTCST 
    TLIAIAGMTC ASCVHSIEGM ISQLEGVQQI SVSLAEGTAT VLYNPSVISP EELRAAIEDM 
    GFEASVVSES CSTNPLGNHS AGNSMVQTTD GTPTSVQEVA PHTGRLPANH APDILAKSPQ 
    STRAVAPQKC FLQIKGMTCA SCVSNIERNL QKEAGVLSVL VALMAGKAEI KYDPEVIQPL 
    EIAQFIQDLG FEAAVMEDYA GSDGNIELTI TGMTCASCVH NIESKLTRTN GITYASVALA 
    TSKALVKFDP EIIGPRDIIK IIELLGGWYF YVQAYKSLRH RSANMDVLIV LATSIAYVYS 
    LVILVVAVAE KAERSPVTFF DTPPMLFVFI ALGRWLEHLA KSKTSEALAK LMSLQATEAT 
    VVTLGEDNLI IREEQVPMEL VQRGDIVKVV PGGKFPVDGK VLEGNTMADE SLITGEAMPV 
    TKKPGSTVIA GSINAHGSVL IKATHVGNDT TLAQIVKLVE EAQMSKAPIQ QLADRFSGYF 
    VPFIIIMSTL TLVVWIVIGF IDFGVVQRYF PNPNKHISQT EVIIRFAFQT SITVLCIACP 
    CSLGLATPTA VMVGTGVAAQ NGILIKGGKP LEMAHKIKTV MFDKTGTITH GVPRVMRVLL 
    LGDVATLPLR KVLAVVGTAE ASSEHPLGVA VTKYCKEELG TETLGYCTDF QAVPGCGIGC 
    KVSNVEGILA HSERPLSAPA SHLNEAGSLP AEKDAVPQTF SVLIGNREWL RRNGLTISSD 
    VSDAMTDHEM KGQTAILVAI DGVLCGMIAI ADAVKQEAAL AVHTLQSMGV DVVLITGDNR 
    KTARAIATQV GINKVFAEVL PSHKVAKVQE LQNKGKKVAM VGDGVNDSPA LAQADMGVAI 
    GTGTDVAIEA ADVVLIRNDL LDVVASIHLS KRTVRRIRIN LVLALIYNLV GIPIAAGVFM 
    PIGIVLQPWM GSAAMAASSV SVVLSSLQLK CYKKPDLERY EAQAHGHMKP LTASQVSVHI 
    GMDDRWRDSP RATPWDQVSY VSQVSLSSLT SDKPSRHSAA ADDDGDKWSL LLNGRDEEQY 
    I

Genular Protein ID: 1802371329

Symbol: B7ZLR3_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

Sequence Information:

  • Length: 1387
  • Mass: 148373
  • Checksum: A92FA12CAC667456
  • Sequence:
  • MPEQERQITA REGASRKILS KLSLPTRAWE PAMKKSFAFD NVGYEGGLDG LGPSSQVATS 
    TVRILGMTCQ SCVKSIEDRI SNLKGIISMK VSLEQGSATV KYVPSVVCLQ QVCHQIGDMG 
    FEASIAEGKA ASWPSRSLPA QEAVVKLRVE GMTCQSCVSS IEGKVRKLQG VVRVKVSLSN 
    QEAVITYQPY LIQPEDLRDH VNDMGFEAAI KSKVAPLSLG PIDIERLQST NPKRPLSSAN 
    QNFNNSETLG HQGSHVVTLQ LRIDGMHCKS CVLNIEENIG QLLGVQSIQV SLENKTAQVK 
    YDPSCTSPVA LQRAIEALPP GNFKVSLPDG AEGSGTDHRS SSSHSPGSPP RNQVQGTCST 
    TLIAIAGMTC ASCVHSIEGM ISQLEGVQQI SVSLAEGTAT VLYNPAVISP EELRAAIEDM 
    GFEASVVSES CSTNPLGNHS AGNSMVQTTD GTPTSLQEVA PHTGRLPANH APDILAKSPQ 
    STRAVAPQKC FLQIKGMTCA SCVSNIERNL QKEAGVLSVL VALMAGKAEI KYDPEVIQPL 
    EIAQFIQDLG FEAAVMEDYA GSDGNIELTI TGMTCASCVH NIESKLTRTN GITYASVALA 
    TSKALVKFDP EIIGPRDIIK IIEEIGFHAS LAQRNPNAHH LDHKMEIKQW KKSFLCSLVF 
    GIPVMALMIY MLIPSNEPHQ SMVLDHNIIP GLSILNLIFF ILCTFVQSKT SEALAKLMSL 
    QATEATVVTL GEDNLIIREE QVPMELVQRG DIVRVVPGGK FPVDGKVLEG NTMADESLIT 
    GEAMPVTKKP GSTVIAGSIN AHGSVLIKAT HVGNDTTLAQ IVKLVEEAQM SKAPIQQLAD 
    RFSGYFVPFI IIMSTLTLVV WIVIGFIDFG VVQKYFPNPN KHISQTEVII RFAFQTSITV 
    LCIACPCSLG LATPTAVMVG TGVAAQNGIL IKGGKPLEMA HKIKTVMFDK TGTITHGVPR 
    VMRVLLLGDV ATLPLRKVLA VVGTAEASSE HPLGVAVTKY CKEELGTETL GYCTDFQAVP 
    GCGIGCKVSN VEGILAHSER PLSAPASHLN EAGSLPAEKD AAPQTFSVLI GNREWLRRNG 
    LTISSDVSDA MTDHEMKGQT AILVAIDGVL CGMIAIADAV KQEAALAVHT LQSMGVDVVL 
    ITGDNRKTAR AIATQVGINK VFAEVLPSHK VAKVQELQNK GKKVAMVGDG VNDSPALAQA 
    DMGVAIGTGT DVAIEAADVV LIRNDLLDVV ASIHLSKRTV RRIRINLVLA LIYNLVGIPI 
    AAGVFMPIGI VLQPWMGSAA MAASSVSVVL SSLQLKCYKK PDLERYEAQA HGHMKPLTAS 
    QVSVHIGMDD RWRDSPRATP WDQVSYVSQV SLSSLTSDKP SRHSAAADDD GDKWSLLLNG 
    RDEEQYI

Genular Protein ID: 972853799

Symbol: A0A669KB88_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15057823

Title: The DNA sequence and analysis of human chromosome 13.

PubMed ID: 15057823

DOI: 10.1038/nature02379

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

Sequence Information:

  • Length: 1387
  • Mass: 148403
  • Checksum: 14340BC97D1427F6
  • Sequence:
  • MPEQERQITA REGASRKILS KLSLPTRAWE PAMKKSFAFD NVGYEGGLDG LGPSSQVATS 
    TVRILGMTCQ SCVKSIEDRI SNLKGIISMK VSLEQGSATV KYVPSVVCLQ QVCHQIGDMG 
    FEASIAEGKA ASWPSRSLPA QEAVVKLRVE GMTCQSCVSS IEGKVRKLQG VVRVKVSLSN 
    QEAVITYQPY LIQPEDLRDH VNDMGFEAAI KSKVAPLSLG PIDIERLQST NPKRPLSSAN 
    QNFNNSETLG HQGSHVVTLQ LRIDGMHCKS CVLNIEENIG QLLGVQSIQV SLENKTAQVK 
    YDPSCTSPVA LQRAIEALPP GNFKVSLPDG AEGSGTDHRS SSSHSPGSPP RNQVQGTCST 
    TLIAIAGMTC ASCVHSIEGM ISQLEGVQQI SVSLAEGTAT VLYNPSVISP EELRAAIEDM 
    GFEASVVSES CSTNPLGNHS AGNSMVQTTD GTPTSVQEVA PHTGRLPANH APDILAKSPQ 
    STRAVAPQKC FLQIKGMTCA SCVSNIERNL QKEAGVLSVL VALMAGKAEI KYDPEVIQPL 
    EIAQFIQDLG FEAAVMEDYA GSDGNIELTI TGMTCASCVH NIESKLTRTN GITYASVALA 
    TSKALVKFDP EIIGPRDIIK IIEEIGFHAS LAQRNPNAHH LDHKMEIKQW KKSFLCSLVF 
    GIPVMALMIY MLIPSNEPHQ SMVLDHNIIP GLSILNLIFF ILCTFVQSKT SEALAKLMSL 
    QATEATVVTL GEDNLIIREE QVPMELVQRG DIVKVVPGGK FPVDGKVLEG NTMADESLIT 
    GEAMPVTKKP GSTVIAGSIN AHGSVLIKAT HVGNDTTLAQ IVKLVEEAQM SKAPIQQLAD 
    RFSGYFVPFI IIMSTLTLVV WIVIGFIDFG VVQRYFPNPN KHISQTEVII RFAFQTSITV 
    LCIACPCSLG LATPTAVMVG TGVAAQNGIL IKGGKPLEMA HKIKTVMFDK TGTITHGVPR 
    VMRVLLLGDV ATLPLRKVLA VVGTAEASSE HPLGVAVTKY CKEELGTETL GYCTDFQAVP 
    GCGIGCKVSN VEGILAHSER PLSAPASHLN EAGSLPAEKD AVPQTFSVLI GNREWLRRNG 
    LTISSDVSDA MTDHEMKGQT AILVAIDGVL CGMIAIADAV KQEAALAVHT LQSMGVDVVL 
    ITGDNRKTAR AIATQVGINK VFAEVLPSHK VAKVQELQNK GKKVAMVGDG VNDSPALAQA 
    DMGVAIGTGT DVAIEAADVV LIRNDLLDVV ASIHLSKRTV RRIRINLVLA LIYNLVGIPI 
    AAGVFMPIGI VLQPWMGSAA MAASSVSVVL SSLQLKCYKK PDLERYEAQA HGHMKPLTAS 
    QVSVHIGMDD RWRDSPRATP WDQVSYVSQV SLSSLTSDKP SRHSAAADDD GDKWSLLLNG 
    RDEEQYI

Genular Protein ID: 2641347736

Symbol: B7ZLR4_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 15057823

Title: The DNA sequence and analysis of human chromosome 13.

PubMed ID: 15057823

DOI: 10.1038/nature02379

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

Sequence Information:

  • Length: 1417
  • Mass: 151875
  • Checksum: 9CC139F3E03D670C
  • Sequence:
  • MPEQERQITA REGASRKILS KLSLPTRAWE PAMKKSFAFD NVGYEGGLDG LGPSSQVATS 
    TVRILGMTCQ SCVKSIEDRI SNLKGIISMK VSLEQGSATV KYVPSVVCLQ QVCHQIGDMG 
    FEASIAEGKA ASWPSRSLPA QEAVVKLRVE GMTCQSCVSS IEGKVRKLQG VVRVKVSLSN 
    QEAVITYQPY LIQPEDLRDH VNDMGFEAAI KSKVAPLSLG PIDIERLQST NPKRPLSSAN 
    QNFNNSETLG HQGSHVVTLQ LRIDGMHCKS CVLNIEENIG QLLGVQSIQV SLENKTAQVK 
    YDPSCTSPVA LQRAIEALPP GNFKVSLPDG AEGSGTDHRS SSSHSPGSPP RNQVQGTCST 
    TLIAIAGMTC ASCVHSIEGM ISQLEGVQQI SVSLAEGTAT VLYNPSVISP EELRAAIEDM 
    GFEASVVSES CSTNPLGNHS AGNSMVQTTD GTPTSVQEVA PHTGRLPANH APDILAKSPQ 
    STRAVAPQKC FLQIKGMTCA SCVSNIERNL QKEAGVLSVL VALMAGKAEI KYDPEVIQPL 
    EIAQFIQDLG FEAAVMEDYA GSDGNIELTI TGMTCASCVH NIESKLTRTN GITYASVALA 
    TSKALVKFDP EIIGPRDIIK IIEEIGFHAS LAQRNPNAHH LDHKMEIKQW KKSFLCSLVF 
    GIPVMALMIY MLIPSNEPHQ SMVLDHNIIP GLSILNLIFF ILCTFVQAER SPVTFFDTPP 
    MLFVFIALGR WLEHLAKSKT SEALAKLMSL QATEATVVTL GEDNLIIREE QVPMELVQRG 
    DIVKVVPGGK FPVDGKVLEG NTMADESLIT GEAMPVTKKP GSTVIAGSIN AHGSVLIKAT 
    HVGNDTTLAQ IVKLVEEAQM SKAPIQQLAD RFSGYFVPFI IIMSTLTLVV WIVIGFIDFG 
    VVQRYFPNPN KHISQTEVII RFAFQTSITV LCIACPCSLG LATPTAVMVG TGVAAQNGIL 
    IKGGKPLEMA HKIKTVMFDK TGTITHGVPR VMRVLLLGDV ATLPLRKVLA VVGTAEASSE 
    HPLGVAVTKY CKEELGTETL GYCTDFQAVP GCGIGCKVSN VEGILAHSER PLSAPASHLN 
    EAGSLPAEKD AVPQTFSVLI GNREWLRRNG LTISSDVSDA MTDHEMKGQT AILVAIDGVL 
    CGMIAIADAV KQEAALAVHT LQSMGVDVVL ITGDNRKTAR AIATQVGINK VFAEVLPSHK 
    VAKVQELQNK GKKVAMVGDG VNDSPALAQA DMGVAIGTGT DVAIEAADVV LIRNDLLDVV 
    ASIHLSKRTV RRIRINLVLA LIYNLVGIPI AAGVFMPIGI VLQPWMGSAA MAASSVSVVL 
    SSLQLKCYKK PDLERYEAQA HGHMKPLTAS QVSVHIGMDD RWRDSPRATP WDQVSYVSQV 
    SLSSLTSDKP SRHSAAADDD GDKWSLLLNG RDEEQYI

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.