Details for: ATP7A

Gene ID: 538

Symbol: ATP7A

Ensembl ID: ENSG00000165240

Description: ATPase copper transporting alpha

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: 87.7558
    Cell Significance Index: -13.6500
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 59.8084
    Cell Significance Index: -15.1700
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 31.2856
    Cell Significance Index: -12.7100
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 29.0152
    Cell Significance Index: -14.9300
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 13.3544
    Cell Significance Index: -12.7500
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 11.9550
    Cell Significance Index: -14.7400
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 5.8346
    Cell Significance Index: -15.6300
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 4.0091
    Cell Significance Index: -15.8200
  • Cell Name: sebaceous gland cell (CL2000021)
    Fold Change: 3.5090
    Cell Significance Index: 4.5400
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 3.4576
    Cell Significance Index: -10.6200
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 2.2806
    Cell Significance Index: 434.0200
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 2.1886
    Cell Significance Index: -4.7900
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.4342
    Cell Significance Index: 141.8800
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 1.2810
    Cell Significance Index: 149.2900
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 1.1803
    Cell Significance Index: 19.4500
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.9484
    Cell Significance Index: 49.2700
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.8714
    Cell Significance Index: 94.7800
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.8470
    Cell Significance Index: 50.8500
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.7771
    Cell Significance Index: 126.3900
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.6875
    Cell Significance Index: 14.7000
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.6866
    Cell Significance Index: 13.4000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.5987
    Cell Significance Index: 107.9300
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.5457
    Cell Significance Index: 15.2500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.5375
    Cell Significance Index: 33.0400
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.5167
    Cell Significance Index: 11.2000
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.4496
    Cell Significance Index: 55.2900
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.3445
    Cell Significance Index: 238.2400
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.3314
    Cell Significance Index: 22.9200
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.3193
    Cell Significance Index: 2.9400
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.3142
    Cell Significance Index: 6.8800
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.2356
    Cell Significance Index: 12.2700
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.2177
    Cell Significance Index: 2.9700
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.2122
    Cell Significance Index: 5.0900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.2061
    Cell Significance Index: 9.3400
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.1926
    Cell Significance Index: 13.6200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.1714
    Cell Significance Index: 7.9900
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1637
    Cell Significance Index: 72.3700
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: 0.1208
    Cell Significance Index: 1.8200
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.1188
    Cell Significance Index: 2.9700
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.1179
    Cell Significance Index: 3.2100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0966
    Cell Significance Index: 13.2700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0793
    Cell Significance Index: 15.9100
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0792
    Cell Significance Index: 10.1500
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0567
    Cell Significance Index: 1.6400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0500
    Cell Significance Index: 27.3100
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0418
    Cell Significance Index: 14.9900
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0250
    Cell Significance Index: 0.8800
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0232
    Cell Significance Index: 1.4700
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0015
    Cell Significance Index: -2.8100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0063
    Cell Significance Index: -4.5900
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0118
    Cell Significance Index: -21.6800
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0119
    Cell Significance Index: -18.3700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0128
    Cell Significance Index: -1.4700
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0132
    Cell Significance Index: -9.9800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0176
    Cell Significance Index: -23.9300
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.0177
    Cell Significance Index: -0.1200
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0187
    Cell Significance Index: -11.8500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0220
    Cell Significance Index: -16.3300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0234
    Cell Significance Index: -3.9900
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0264
    Cell Significance Index: -14.8800
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0302
    Cell Significance Index: -18.8600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0305
    Cell Significance Index: -3.1200
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0308
    Cell Significance Index: -3.6300
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0322
    Cell Significance Index: -14.6000
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0329
    Cell Significance Index: -0.7000
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0396
    Cell Significance Index: -2.9500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0523
    Cell Significance Index: -10.3800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0558
    Cell Significance Index: -16.0500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0568
    Cell Significance Index: -4.3600
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0580
    Cell Significance Index: -3.7400
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.0822
    Cell Significance Index: -1.9000
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0880
    Cell Significance Index: -4.9400
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0881
    Cell Significance Index: -12.8000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0897
    Cell Significance Index: -11.6000
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0946
    Cell Significance Index: -19.9300
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0986
    Cell Significance Index: -1.6900
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1321
    Cell Significance Index: -6.2100
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.1428
    Cell Significance Index: -3.8200
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1490
    Cell Significance Index: -15.5100
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1523
    Cell Significance Index: -9.3400
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1689
    Cell Significance Index: -13.3800
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.1971
    Cell Significance Index: -2.8000
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1997
    Cell Significance Index: -5.2500
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: -0.2064
    Cell Significance Index: -1.3700
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.2219
    Cell Significance Index: -3.5200
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.2223
    Cell Significance Index: -6.5300
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.2409
    Cell Significance Index: -12.6500
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.2431
    Cell Significance Index: -16.3500
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.2509
    Cell Significance Index: -2.8500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.2529
    Cell Significance Index: -8.1000
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.2630
    Cell Significance Index: -9.1400
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.2788
    Cell Significance Index: -4.1200
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.2905
    Cell Significance Index: -6.0800
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: -0.3059
    Cell Significance Index: -2.7200
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: -0.3121
    Cell Significance Index: -3.2300
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.3241
    Cell Significance Index: -8.3300
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.3286
    Cell Significance Index: -5.5000
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: -0.3330
    Cell Significance Index: -4.7900
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.3335
    Cell Significance Index: -9.5600
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.3344
    Cell Significance Index: -6.1800

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** The ATP7A gene exhibits several key characteristics that distinguish it from other genes: 1. **Copper-dependent function**: The ATP7A protein is specifically involved in the transport of copper ions across cell membranes, making it essential for maintaining copper homeostasis within cells. 2. **ATPase activity**: The ATP7A protein possesses ATPase activity, allowing it to utilize the energy from ATP hydrolysis to transport copper ions. 3. **Transmembrane localization**: The ATP7A protein is embedded in the plasma membrane, enabling it to regulate copper ion transport across cell membranes. 4. **Expression in multiple tissues**: The ATP7A gene is highly expressed in various tissues, including the liver, brain, and epithelial cells, indicating its widespread importance in cellular processes. **Pathways and Functions** The ATP7A gene is involved in several cellular pathways and functions, including: 1. **Copper ion homeostasis**: The ATP7A protein plays a critical role in maintaining copper ion homeostasis within cells, regulating the transport of copper ions across cell membranes. 2. **Detoxification of reactive oxygen species**: The ATP7A protein is involved in the detoxification of reactive oxygen species, protecting cells from oxidative stress. 3. **Regulation of oxidative phosphorylation**: The ATP7A protein regulates oxidative phosphorylation by controlling the transport of copper ions, which is essential for the functioning of the electron transport chain. 4. **Immune system function**: The ATP7A protein is involved in the regulation of immune system function, including the transport of copper ions across cell membranes and the detoxification of reactive oxygen species. **Clinical Significance** Dysregulation of the ATP7A gene has been implicated in various diseases, including: 1. **Wilson's disease**: A genetic disorder characterized by excessive accumulation of copper ions in the liver and brain, leading to liver damage and neurological symptoms. 2. **Neurodegenerative disorders**: Dysregulation of the ATP7A gene has been linked to various neurodegenerative disorders, including Alzheimer's disease and Parkinson's disease. 3. **Immunodeficiency disorders**: The ATP7A protein plays a critical role in regulating immune system function, and dysregulation of the gene has been implicated in immunodeficiency disorders. In conclusion, the ATP7A gene plays a crucial role in maintaining copper homeostasis within cells and is involved in numerous cellular processes, including copper ion homeostasis, detoxification of reactive oxygen species, and regulation of oxidative phosphorylation. Dysregulation of the gene has been implicated in various diseases, highlighting its importance in maintaining cellular homeostasis and overall health.

Genular Protein ID: 715975783

Symbol: ATP7A_HUMAN

Name: Copper-transporting ATPase 1

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 8490659

Title: Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase.

PubMed ID: 8490659

DOI: 10.1038/ng0193-7

PubMed ID: 7607665

Title: Characterization of the exon structure of the Menkes disease gene using vectorette PCR.

PubMed ID: 7607665

DOI: 10.1016/0888-7543(95)80160-n

PubMed ID: 9693104

Title: Multiple transcripts coding for the menkes gene: evidence for alternative splicing of Menkes mRNA.

PubMed ID: 9693104

DOI: 10.1042/bj3340071

PubMed ID: 10079814

Title: Multiple forms of the Menkes Cu-ATPase.

PubMed ID: 10079814

DOI: 10.1007/978-1-4615-4859-1_4

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 7490081

Title: Molecular structure of the Menkes disease gene (ATP7A).

PubMed ID: 7490081

DOI: 10.1006/geno.1995.1175

PubMed ID: 8490646

Title: Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein.

PubMed ID: 8490646

DOI: 10.1038/ng0193-14

PubMed ID: 8490647

Title: Isolation of a partial candidate gene for Menkes disease by positional cloning.

PubMed ID: 8490647

DOI: 10.1038/ng0193-20

PubMed ID: 11214319

Title: Molecular phylogenetics and the origins of placental mammals.

PubMed ID: 11214319

DOI: 10.1038/35054550

PubMed ID: 9467005

Title: Constitutive skipping of alternatively spliced exon 10 in the ATP7A gene abolishes Golgi localization of the menkes protein and produces the occipital horn syndrome.

PubMed ID: 9467005

DOI: 10.1093/hmg/7.3.465

PubMed ID: 10970802

Title: Evidence for a Menkes-like protein with a nuclear targeting sequence.

PubMed ID: 10970802

DOI: 10.1042/bj3500855

PubMed ID: 9147644

Title: Immunocytochemical localization of the Menkes copper transport protein (ATP7A) to the trans-Golgi network.

PubMed ID: 9147644

DOI: 10.1093/hmg/6.3.409

PubMed ID: 10484781

Title: The Menkes protein (ATP7A; MNK) cycles via the plasma membrane both in basal and elevated extracellular copper using a C-terminal di-leucine endocytic signal.

PubMed ID: 10484781

DOI: 10.1093/hmg/8.11.2107

PubMed ID: 10419525

Title: Functional analysis of the N-terminal CXXC metal-binding motifs in the human Menkes copper-transporting P-type ATPase expressed in cultured mammalian cells.

PubMed ID: 10419525

DOI: 10.1074/jbc.274.31.22008

PubMed ID: 11092760

Title: The Menkes copper transporter is required for the activation of tyrosinase.

PubMed ID: 11092760

DOI: 10.1093/hmg/9.19.2845

PubMed ID: 16051599

Title: A single PDZ domain protein interacts with the Menkes copper ATPase, ATP7A. A new protein implicated in copper homeostasis.

PubMed ID: 16051599

DOI: 10.1074/jbc.m505889200

PubMed ID: 16371425

Title: Essential role for the Menkes ATPase in activation of extracellular superoxide dismutase: implication for vascular oxidative stress.

PubMed ID: 16371425

DOI: 10.1096/fj.05-4564fje

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21667063

Title: The copper-transporting capacity of ATP7A mutants associated with Menkes disease is ameliorated by COMMD1 as a result of improved protein expression.

PubMed ID: 21667063

DOI: 10.1007/s00018-011-0743-1

PubMed ID: 23186163

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

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 9437429

Title: Solution structure of the fourth metal-binding domain from the Menkes copper-transporting ATPase.

PubMed ID: 9437429

DOI: 10.1038/nsb0198-47

PubMed ID: 19453293

Title: Copper(I)-mediated protein-protein interactions result from suboptimal interaction surfaces.

PubMed ID: 19453293

DOI: 10.1042/bj20090422

PubMed ID: 19917612

Title: The binding mode of ATP revealed by the solution structure of the N-domain of human ATP7A.

PubMed ID: 19917612

DOI: 10.1074/jbc.m109.054262

PubMed ID: 31283225

Title: Mechanistic and Structural Basis for Inhibition of Copper Trafficking by Platinum Anticancer Drugs.

PubMed ID: 31283225

DOI: 10.1021/jacs.9b05550

PubMed ID: 10079817

Title: Mutation spectrum of ATP7A, the gene defective in Menkes disease.

PubMed ID: 10079817

DOI: 10.1007/978-1-4615-4859-1_7

PubMed ID: 7977350

Title: Diverse mutations in patients with Menkes disease often lead to exon skipping.

PubMed ID: 7977350

PubMed ID: 8981948

Title: Identification of point mutations in 41 unrelated patients affected with Menkes disease.

PubMed ID: 8981948

PubMed ID: 9246006

Title: A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family.

PubMed ID: 9246006

DOI: 10.1016/s0002-9297(07)64297-9

PubMed ID: 10401004

Title: Defective copper-induced trafficking and localization of the Menkes protein in patients with mild and copper-treated classical Menkes disease.

PubMed ID: 10401004

DOI: 10.1093/hmg/8.8.1547

PubMed ID: 10319589

Title: Identification of three novel mutations in the MNK gene in three unrelated Japanese patients with classical Menkes disease.

PubMed ID: 10319589

DOI: 10.1007/s100380050144

PubMed ID: 11431706

Title: A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease.

PubMed ID: 11431706

DOI: 10.1086/321290

PubMed ID: 11241493

Title: ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome.

PubMed ID: 11241493

DOI: 10.1002/1096-8628(2001)9999:9999<::aid-ajmg1167>3.0.co;2-r

PubMed ID: 11350187

Title: Identification of four novel mutations in classical Menkes disease and successful prenatal DNA diagnosis.

PubMed ID: 11350187

DOI: 10.1006/mgme.2001.3169

PubMed ID: 15981243

Title: Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A.

PubMed ID: 15981243

DOI: 10.1002/humu.20190

PubMed ID: 17108763

Title: Functional copper transport explains neurologic sparing in occipital horn syndrome.

PubMed ID: 17108763

DOI: 10.1097/01.gim.0000245578.94312.1e

PubMed ID: 20170900

Title: Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy.

PubMed ID: 20170900

DOI: 10.1016/j.ajhg.2010.01.027

PubMed ID: 22992316

Title: The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation.

PubMed ID: 22992316

DOI: 10.1186/1471-2431-12-150

PubMed ID: 28389643

Title: Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease.

PubMed ID: 28389643

DOI: 10.1038/s41598-017-00618-6

Sequence Information:

  • Length: 1500
  • Mass: 163373
  • Checksum: A54F17EA08FDACDB
  • Sequence:
  • MDPSMGVNSV TISVEGMTCN SCVWTIEQQI GKVNGVHHIK VSLEEKNATI IYDPKLQTPK 
    TLQEAIDDMG FDAVIHNPDP LPVLTDTLFL TVTASLTLPW DHIQSTLLKT KGVTDIKIYP 
    QKRTVAVTII PSIVNANQIK ELVPELSLDT GTLEKKSGAC EDHSMAQAGE VVLKMKVEGM 
    TCHSCTSTIE GKIGKLQGVQ RIKVSLDNQE ATIVYQPHLI SVEEMKKQIE AMGFPAFVKK 
    QPKYLKLGAI DVERLKNTPV KSSEGSQQRS PSYTNDSTAT FIIDGMHCKS CVSNIESTLS 
    ALQYVSSIVV SLENRSAIVK YNASSVTPES LRKAIEAVSP GLYRVSITSE VESTSNSPSS 
    SSLQKIPLNV VSQPLTQETV INIDGMTCNS CVQSIEGVIS KKPGVKSIRV SLANSNGTVE 
    YDPLLTSPET LRGAIEDMGF DATLSDTNEP LVVIAQPSSE MPLLTSTNEF YTKGMTPVQD 
    KEEGKNSSKC YIQVTGMTCA SCVANIERNL RREEGIYSIL VALMAGKAEV RYNPAVIQPP 
    MIAEFIRELG FGATVIENAD EGDGVLELVV RGMTCASCVH KIESSLTKHR GILYCSVALA 
    TNKAHIKYDP EIIGPRDIIH TIESLGFEAS LVKKDRSASH LDHKREIRQW RRSFLVSLFF 
    CIPVMGLMIY MMVMDHHFAT LHHNQNMSKE EMINLHSSMF LERQILPGLS VMNLLSFLLC 
    VPVQFFGGWY FYIQAYKALK HKTANMDVLI VLATTIAFAY SLIILLVAMY ERAKVNPITF 
    FDTPPMLFVF IALGRWLEHI AKGKTSEALA KLISLQATEA TIVTLDSDNI LLSEEQVDVE 
    LVQRGDIIKV VPGGKFPVDG RVIEGHSMVD ESLITGEAMP VAKKPGSTVI AGSINQNGSL 
    LICATHVGAD TTLSQIVKLV EEAQTSKAPI QQFADKLSGY FVPFIVFVSI ATLLVWIVIG 
    FLNFEIVETY FPGYNRSISR TETIIRFAFQ ASITVLCIAC PCSLGLATPT AVMVGTGVGA 
    QNGILIKGGE PLEMAHKVKV VVFDKTGTIT HGTPVVNQVK VLTESNRISH HKILAIVGTA 
    ESNSEHPLGT AITKYCKQEL DTETLGTCID FQVVPGCGIS CKVTNIEGLL HKNNWNIEDN 
    NIKNASLVQI DASNEQSSTS SSMIIDAQIS NALNAQQYKV LIGNREWMIR NGLVINNDVN 
    DFMTEHERKG RTAVLVAVDD ELCGLIAIAD TVKPEAELAI HILKSMGLEV VLMTGDNSKT 
    ARSIASQVGI TKVFAEVLPS HKVAKVKQLQ EEGKRVAMVG DGINDSPALA MANVGIAIGT 
    GTDVAIEAAD VVLIRNDLLD VVASIDLSRK TVKRIRINFV FALIYNLVGI PIAAGVFMPI 
    GLVLQPWMGS AAMAASSVSV VLSSLFLKLY RKPTYESYEL PARSQIGQKS PSEISVHVGI 
    DDTSRNSPKL GLLDRIVNYS RASINSLLSD KRSLNSVVTS EPDKHSLLVG DFREDDDTAL

Genular Protein ID: 1221986320

Symbol: Q762B6_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Sequence Information:

  • Length: 274
  • Mass: 30124
  • Checksum: 1233AE33CD302122
  • Sequence:
  • MDPSMGVNSV TISVEGMTCN SCVWTIEQQI GKVNGVHHIK VSLEEKNATI IYDPKLQTPK 
    TLQEAIDDMG FDAVIHNPDP LPVLTDTLFL TVTASLTLPW DHIQSTLLKT KGVTDIKIYP 
    QKRTVAVTII PSIVNANQIK ELVPELSLDT GTLEKKSGAC EDHSMAQAGE VVLKMKVEGM 
    TCHSCTSTIE GKIGKLQGVQ RIKVSLDNQE ATIVYQPHLI SVEEMKKQIE AMGFPAFVKK 
    QPKYLKLGAI DVERLKNTPV KSSEGSQQRS PSYQ

Genular Protein ID: 3897435048

Symbol: B4DRW0_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Sequence Information:

  • Length: 488
  • Mass: 52494
  • Checksum: 372107CF0324AE75
  • Sequence:
  • MVGTGVGAQN GILIKGGEPL EMAHKVKVVV FDKTGTITHG TPVVNQVKVL TESNRISHHK 
    ILAIVGTAES NSEHPLGTAI TKYCKQELDT ETLGTCIDFQ VVPGCGISCK VTNIEGLLHK 
    NNWNIEDNNI KNASLVQIDA SNEQSSTSSS MIIDAQISNA LNAQQYKVLI GNREWMIRNG 
    LVINNDVNDF MTEHERKGRT AVLVAVDDEL CGLIAIADTV KPEAELAIHI LKSMGLEVVL 
    MTGDNSKTAR SIASQVGITK VFAEVLPSHK VAKVKQLQEE GKRVAMVGDG INDSPALAMA 
    NVGIAIGTGT DVAIEAADVV LIRNDLLDVV ASIDLSRKTV KRIRINFVFA LIYNLVGIPI 
    AAGVFMPIGL VLQPWMGSAA MAASSVSVVL SSLFLKLYRK PTYESYELPA RSQIGQKSPS 
    EISVHVGIDD TSRNSPKLGL LDRIVNYSRA SINSLLSDKR SLNSVVTSEP DKHSLLVGDF 
    REDDDTAL

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.