Details for: DMPK

Gene ID: 1760

Symbol: DMPK

Ensembl ID: ENSG00000104936

Description: DM1 protein kinase

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: 131.6659
    Cell Significance Index: -20.4800
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 81.7683
    Cell Significance Index: -20.7400
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 39.4813
    Cell Significance Index: -18.6400
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 16.7646
    Cell Significance Index: -20.6700
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 6.8163
    Cell Significance Index: -18.2600
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 5.2660
    Cell Significance Index: -20.7800
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 4.0046
    Cell Significance Index: -12.3000
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 3.0310
    Cell Significance Index: 25.4600
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 1.5206
    Cell Significance Index: 40.7500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.0600
    Cell Significance Index: 81.3400
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.9332
    Cell Significance Index: 92.3200
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.8209
    Cell Significance Index: 741.2500
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 0.8045
    Cell Significance Index: 19.6300
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.7701
    Cell Significance Index: 221.5700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.6138
    Cell Significance Index: 123.1200
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.5912
    Cell Significance Index: 64.3100
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.5580
    Cell Significance Index: 33.5000
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.5418
    Cell Significance Index: 88.1200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.5355
    Cell Significance Index: 106.2700
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.3197
    Cell Significance Index: 9.2100
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.2972
    Cell Significance Index: 20.5600
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.2879
    Cell Significance Index: 103.2700
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.2568
    Cell Significance Index: 11.6400
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.2179
    Cell Significance Index: 6.0900
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.2077
    Cell Significance Index: 4.5000
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.1998
    Cell Significance Index: 2.9500
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.1752
    Cell Significance Index: 9.1000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.1170
    Cell Significance Index: 7.8700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.1143
    Cell Significance Index: 51.8700
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0985
    Cell Significance Index: 12.6300
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.0918
    Cell Significance Index: 4.0600
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0840
    Cell Significance Index: 14.3400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0737
    Cell Significance Index: 40.2700
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.0706
    Cell Significance Index: 2.0200
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0616
    Cell Significance Index: 11.7200
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0562
    Cell Significance Index: 7.7200
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0541
    Cell Significance Index: 9.7600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0419
    Cell Significance Index: 5.1600
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.0326
    Cell Significance Index: 1.2400
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0325
    Cell Significance Index: 14.3800
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0281
    Cell Significance Index: 52.9100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0252
    Cell Significance Index: 46.4300
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0241
    Cell Significance Index: 37.1500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0134
    Cell Significance Index: 8.5000
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0036
    Cell Significance Index: 0.0600
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0034
    Cell Significance Index: -4.5800
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0080
    Cell Significance Index: -0.1700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0133
    Cell Significance Index: -0.6200
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0181
    Cell Significance Index: -13.2900
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0219
    Cell Significance Index: -16.2400
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0252
    Cell Significance Index: -19.0500
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0267
    Cell Significance Index: -1.6800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0274
    Cell Significance Index: -1.5400
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0275
    Cell Significance Index: -0.5700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0340
    Cell Significance Index: -19.1900
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0357
    Cell Significance Index: -22.3100
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0366
    Cell Significance Index: -4.3200
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0475
    Cell Significance Index: -2.9200
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0580
    Cell Significance Index: -4.3200
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0621
    Cell Significance Index: -9.0200
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: -0.0855
    Cell Significance Index: -1.3800
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0944
    Cell Significance Index: -12.1900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1030
    Cell Significance Index: -10.5200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1031
    Cell Significance Index: -21.7200
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1086
    Cell Significance Index: -12.6600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1174
    Cell Significance Index: -13.4500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1294
    Cell Significance Index: -6.0800
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1310
    Cell Significance Index: -13.6400
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1311
    Cell Significance Index: -3.3700
  • Cell Name: decidual cell (CL2000002)
    Fold Change: -0.1315
    Cell Significance Index: -2.1100
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.1443
    Cell Significance Index: -3.1600
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.1499
    Cell Significance Index: -2.1300
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: -0.1542
    Cell Significance Index: -1.6100
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1558
    Cell Significance Index: -11.0200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1727
    Cell Significance Index: -10.5900
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1939
    Cell Significance Index: -6.2100
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1986
    Cell Significance Index: -15.7300
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.1995
    Cell Significance Index: -3.4500
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.2096
    Cell Significance Index: -4.0900
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.2191
    Cell Significance Index: -6.2800
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.2285
    Cell Significance Index: -4.8900
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.2379
    Cell Significance Index: -12.4900
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.2443
    Cell Significance Index: -8.5900
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.2655
    Cell Significance Index: -17.1300
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.2799
    Cell Significance Index: -7.3600
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.2810
    Cell Significance Index: -7.0300
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: -0.2841
    Cell Significance Index: -4.1300
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.3027
    Cell Significance Index: -8.2400
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.3228
    Cell Significance Index: -8.6200
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.3368
    Cell Significance Index: -7.0500
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.3501
    Cell Significance Index: -6.0000
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.3709
    Cell Significance Index: -5.5900
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.3755
    Cell Significance Index: -11.9600
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.3768
    Cell Significance Index: -3.4700
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.3902
    Cell Significance Index: -13.5600
  • Cell Name: hippocampal astrocyte (CL0002604)
    Fold Change: -0.4076
    Cell Significance Index: -5.7000
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.4082
    Cell Significance Index: -14.3000
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.4129
    Cell Significance Index: -13.5200
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.4166
    Cell Significance Index: -9.9900
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.4377
    Cell Significance Index: -9.2900

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:** DMPK is a serine/threonine kinase that belongs to the Rho kinase family. It is widely expressed in various tissues, including muscle cells, cardiac myocytes, and neurons. DMPK has a unique ability to phosphorylate and regulate the activity of multiple targets, including myosin phosphatase, troponin, and calmodulin. This kinase activity is essential for regulating muscle contraction, cardiac contraction, and ion homeostasis. **Pathways and Functions:** DMPK plays a critical role in various cellular pathways, including: 1. **Muscle Contraction:** DMPK phosphorylates and modulates the activity of myosin phosphatase, troponin, and calmodulin, regulating muscle contraction and relaxation. 2. **Cardiac Conduction:** DMPK phosphorylates and modulates the activity of cardiac ion channels and transporters, regulating cardiac conduction and contraction. 3. **Ion Homeostasis:** DMPK regulates the activity of ion channels and transporters, maintaining ion balance and homeostasis in various tissues. 4. **Apoptosis:** DMPK has been shown to regulate muscle cell apoptosis, preventing excessive muscle wasting and cell death. **Clinical Significance:** Mutations in the DMPK gene lead to Dystrophia Myotonica Type 1 (DM1), a genetic disorder characterized by: 1. **Muscle Wasting and Weakness:** Progressive muscle wasting and weakness, particularly in the muscles of the face, neck, and limbs. 2. **Cardiac Conduction Defects:** Abnormal cardiac conduction and contraction, leading to arrhythmias and cardiac failure. 3. **Cognitive Impairment:** Cognitive impairment, including memory loss and learning difficulties. 4. **Eye and Skin Abnormalities:** Eye and skin abnormalities, including cataracts, ptosis, and skin fragility. In conclusion, the DMPK gene is a critical regulator of muscle contraction and cardiac function, and its dysfunction leads to Dystrophia Myotonica Type 1, a genetic disorder characterized by progressive muscle wasting, cardiac conduction defects, and cognitive impairment. Understanding the role of DMPK in regulating muscle contraction and cardiac function provides valuable insights into the pathogenesis of DM1 and potential therapeutic strategies for treating this disorder.

Genular Protein ID: 1312068734

Symbol: DMPK_HUMAN

Name: Myotonin-protein kinase

UniProtKB Accession Codes:

Q09013 E5KR08 Q16205 Q6P5Z6

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 4 CDD 1 CTD 1 ChEBI 13 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 DrugCentral 1 EC 3 EMBL 60 Ensembl 6 EvolutionaryTrace 1 ExpressionAtlas 1 GO 22 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 7 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 5 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 2 PIR 1 PRO 1 PROSITE 4 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 Proteomes 1 ProteomicsDB 12 Pumba 1 REPRODUCTION-2DPAGE 1 RNAct 1 Reactome 1 RefSeq 5 Rhea 6 SASBDB 1 SIGNOR 1 SMART 2 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TopDownProteomics 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1546326

Title: An unstable triplet repeat in a gene related to myotonic muscular dystrophy.

PubMed ID: 1546326

DOI: 10.1126/science.1546326

PubMed ID: 7905855

Title: Genomic organization and transcriptional units at the myotonic dystrophy locus.

PubMed ID: 7905855

DOI: 10.1016/s0888-7543(05)80372-6

PubMed ID: 8499920

Title: Structure and genomic sequence of the myotonic dystrophy (DM kinase) gene.

PubMed ID: 8499920

DOI: 10.1093/hmg/2.3.299

PubMed ID: 8469976

Title: Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy.

PubMed ID: 8469976

DOI: 10.1126/science.8469976

PubMed ID: 8076686

Title: Expression of a novel human myotonin protein kinase (MtPK) cDNA clone which encodes a protein with a thymopoietin-like domain in COS cells.

PubMed ID: 8076686

DOI: 10.1016/0014-5793(94)00808-6

PubMed ID: 20843780

Title: Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.

PubMed ID: 20843780

DOI: 10.1093/nar/gkq750

PubMed ID: 24722188

Title: Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism.

PubMed ID: 24722188

DOI: 10.1038/ncomms4650

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: 1310900

Title: Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

PubMed ID: 1310900

DOI: 10.1016/0092-8674(92)90154-5

PubMed ID: 7488138

Title: Different expression of the myotonin protein kinase gene in discrete areas of human brain.

PubMed ID: 7488138

DOI: 10.1006/bbrc.1995.2649

PubMed ID: 1302022

Title: Characterization of the myotonic dystrophy region predicts multiple protein isoform-encoding mRNAs.

PubMed ID: 1302022

DOI: 10.1038/ng0792-261

PubMed ID: 9490724

Title: MKBP, a novel member of the small heat shock protein family, binds and activates the myotonic dystrophy protein kinase.

PubMed ID: 9490724

DOI: 10.1083/jcb.140.5.1113

PubMed ID: 10913253

Title: Myotonic dystrophy protein kinase domains mediate localization, oligomerization, novel catalytic activity, and autoinhibition.

PubMed ID: 10913253

DOI: 10.1021/bi992142f

PubMed ID: 10869570

Title: Rac-1 and Raf-1 kinases, components of distinct signaling pathways, activate myotonic dystrophy protein kinase.

PubMed ID: 10869570

DOI: 10.1016/s0014-5793(00)01692-6

PubMed ID: 10699184

Title: Constitutive and regulated modes of splicing produce six major myotonic dystrophy protein kinase (DMPK) isoforms with distinct properties.

PubMed ID: 10699184

DOI: 10.1093/hmg/9.4.605

PubMed ID: 10811636

Title: Phospholemman is a substrate for myotonic dystrophy protein kinase.

PubMed ID: 10811636

DOI: 10.1074/jbc.m000899200

PubMed ID: 11287000

Title: Myotonic dystrophy protein kinase phosphorylates the myosin phosphatase targeting subunit and inhibits myosin phosphatase activity.

PubMed ID: 11287000

DOI: 10.1016/s0014-5793(01)02283-9

PubMed ID: 12832055

Title: Homodimerization through coiled-coil regions enhances activity of the myotonic dystrophy protein kinase.

PubMed ID: 12832055

DOI: 10.1016/s0014-5793(03)00601-x

PubMed ID: 15598648

Title: Myotonic dystrophy protein kinase phosphorylates phospholamban and regulates calcium uptake in cardiomyocyte sarcoplasmic reticulum.

PubMed ID: 15598648

DOI: 10.1074/jbc.m412845200

PubMed ID: 15684391

Title: Divergent mitochondrial and endoplasmic reticulum association of DMPK splice isoforms depends on unique sequence arrangements in tail anchors.

PubMed ID: 15684391

DOI: 10.1128/mcb.25.4.1402-1414.2005

PubMed ID: 19514047

Title: Highly unstable sequence interruptions of the CTG repeat in the myotonic dystrophy gene.

PubMed ID: 19514047

DOI: 10.1002/ajmg.a.32987

PubMed ID: 21457715

Title: Chelerythrine perturbs lamellar actomyosin filaments by selective inhibition of myotonic dystrophy kinase-related Cdc42-binding kinase.

PubMed ID: 21457715

DOI: 10.1016/j.febslet.2011.03.054

PubMed ID: 21949239

Title: Myotonic dystrophy protein kinase is critical for nuclear envelope integrity.

PubMed ID: 21949239

DOI: 10.1074/jbc.m111.241455

PubMed ID: 15583383

Title: Crystallization and preliminary X-ray analysis of the coiled-coil domain of dystrophia myotonica kinase.

PubMed ID: 15583383

DOI: 10.1107/s0907444904026873

PubMed ID: 16770013

Title: Molecular insights into the self-assembly mechanism of dystrophia myotonica kinase.

PubMed ID: 16770013

DOI: 10.1096/fj.05-5262com

PubMed ID: 19309729

Title: Structure of dystrophia myotonica protein kinase.

PubMed ID: 19309729

DOI: 10.1002/pro.82

PubMed ID: 17344846

Title: Patterns of somatic mutation in human cancer genomes.

PubMed ID: 17344846

DOI: 10.1038/nature05610

Sequence Information:

  • Length: 629
  • Mass: 69385
  • Checksum: 46783ED4AE65B493
  • Sequence:
    • MSAEVRLRRL QQLVLDPGFL GLEPLLDLLL GVHQELGASE LAQDKYVADF LQWAEPIVVR 
LKEVRLQRDD FEILKVIGRG AFSEVAVVKM KQTGQVYAMK IMNKWDMLKR GEVSCFREER 
DVLVNGDRRW ITQLHFAFQD ENYLYLVMEY YVGGDLLTLL SKFGERIPAE MARFYLAEIV 
MAIDSVHRLG YVHRDIKPDN ILLDRCGHIR LADFGSCLKL RADGTVRSLV AVGTPDYLSP 
EILQAVGGGP GTGSYGPECD WWALGVFAYE MFYGQTPFYA DSTAETYGKI VHYKEHLSLP 
LVDEGVPEEA RDFIQRLLCP PETRLGRGGA GDFRTHPFFF GLDWDGLRDS VPPFTPDFEG 
ATDTCNFDLV EDGLTAMVSG GGETLSDIRE GAPLGVHLPF VGYSYSCMAL RDSEVPGPTP 
MELEAEQLLE PHVQAPSLEP SVSPQDETAE VAVPAAVPAA EAEAEVTLRE LQEALEEEVL 
TRQSLSREME AIRTDNQNFA SQLREAEARN RDLEAHVRQL QERMELLQAE GATAVTGVPS 
PRATDPPSHL DGPPAVAVGQ CPLVGPGPMH RRHLLLPARV PRPGLSEALS LLLFAVVLSR 
AAALGCIGLV AHAGQLTAVW RRPGAARAP

Genular Protein ID: 2305844622

Symbol: B4DM55_HUMAN

Name: N/A

UniProtKB Accession Codes:

B4DM55

Database IDs:

ARBA 10 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 ChEBI 11 DNASU 1 DisGeNET 1 EC 2 EMBL 2 GO 5 Gene3D 2 InterPro 6 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 5 PeptideAtlas 1 Pfam 2 RefSeq 1 Rhea 6 SAM 1 SMART 2 SUPFAM 1

Sequence Information:

  • Length: 541
  • Mass: 59827
  • Checksum: EFC010C7458F8A9E
  • Sequence:
    • MKQTGQVYAM KIMNKWDMLK RGEVSCFREE RDVLVNGDRR WITQLHFAFQ DENYLYLVME 
YYVGGDLLTL LSKFGERIPA EMARFYLAEI VMAIDSVHRL GYVHRDIKPD NILLDRCGHI 
RLADFGSCLK LRADGTVRSL VAVGTPDYLS PEILQAVGGG PGTGSYGPEC DWWALGVFAY 
EMFYGQTPFY ADSTAETYGK IVHYKEHLSL PLVDEGVPEE ARDFIQRLLC PPETRLGRGG 
AGDFRTHPFF FGLDWDGLRD SVPPFTPDFE GATDTCNFDL VEDGLTAMVS GGGETLSDIR 
EGAPLGVHLP FVGYSYSCMA LRDSEVPGPT PMELEAEQLL EPHVQAPSLE PSVSPQDETA 
EVAVPAAVPA AEAEAEVTLR ELQEALEEEV LTRQSLSREM EAIRTDNQNF ASQLREAEAR 
NRDLEAHVRQ LQERMELLQA EGATAVTGVP SPRATDPPSH MAPRPWLWAS ARWWGQAPCT 
AATCCSLPGS LGLAYRRRFP CSCSPLFCLV PPPWAALGWW PTPANSPQSG AAQEPPALPG 
P

Genular Protein ID: 1386032635

Symbol: E5KR07_HUMAN

Name: N/A

UniProtKB Accession Codes:

E5KR07

Database IDs:

ARBA 10 AlphaFoldDB 1 Antibodypedia 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChEBI 12 ChiTaRS 1 DNASU 1 DisGeNET 1 EC 2 EMBL 43 ExpressionAtlas 1 GO 5 Gene3D 2 InterPro 7 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 6 PROSITE-ProRule 1 Pfam 2 RefSeq 1 Rhea 6 SAM 1 SMART 2 SMR 1 SUPFAM 1 VEuPathDB 1

Citations:

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

PubMed ID: 20843780

Title: Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.

PubMed ID: 20843780

DOI: 10.1093/nar/gkq750

Sequence Information:

  • Length: 624
  • Mass: 69028
  • Checksum: 7ECA31ED9A84E7E1
  • Sequence:
    • MSAEVRLRRL QQLVLDPGFL GLEPLLDLLL GVHQELGASE LAQDKYVADF LQWAEPIVVR 
LKEVRLQRDD FEILKVIGRG AFSEVAVVKM KQTGQVYAMK IMNKWDMLKR GEVSCFREER 
DVLVNGDRRW ITQLHFAFQD ENYLYLVMEY YVGGDLLTLL SKFGERIPAE MARFYLAEIV 
MAIDSVHRLG YVHRDIKPDN ILLDRCGHIR LADFGSCLKL RADGTVRSLV AVGTPDYLSP 
EILQAVGGGP GTGSYGPECD WWALGVFAYE MFYGQTPFYA DSTAETYGKI VHYKEHLSLP 
LVDEGVPEEA RDFIQRLLCP PETRLGRGGA GDFRTHPFFF GLDWDGLRDS VPPFTPDFEG 
ATDTCNFDLV EDGLTAMETL SDIREGAPLG VHLPFVGYSY SCMALRDSEV PGPTPMELEA 
EQLLEPHVQA PSLEPSVSPQ DETAEVAVPA AVPAAEAEAE VTLRELQEAL EEEVLTRQSL 
SREMEAIRTD NQNFASQLRE AEARNRDLEA HVRQLQERME LLQAEGATAV TGVPSPRATD 
PPSHLDGPPA VAVGQCPLVG PGPMHRRHLL LPARVPRPGL SEALSLLLFA VVLSRAAALG 
CIGLVAHAGQ LTAVWRRPGA ARAP

Genular Protein ID: 274446697

Symbol: I6L989_HUMAN

Name: N/A

UniProtKB Accession Codes:

I6L989

Database IDs:

ARBA 10 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChEBI 12 ChiTaRS 1 DNASU 1 DisGeNET 1 EC 2 EMBL 2 GO 2 Gene3D 2 InterPro 7 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 6 PROSITE-ProRule 1 PeptideAtlas 1 Pfam 2 RefSeq 3 Rhea 6 SAM 2 SMART 2 SMR 1 SUPFAM 1

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: 655
  • Mass: 71161
  • Checksum: 7B7ABCA0CD6A0D5D
  • Sequence:
    • MVLPVQHVSR GAAEAAPAAG VGPGLPGAGA PARPSPGRPP GAGRLRTGPG QVRGRLLAVG 
PKSRVFQSVV QEPPASESRA EPIVVRLKEV RLQRDDFEIL KVIGRGAFSE VAVVKMKQTG 
QVYAMKIMNK WDMLKRGEVS CFREERDVLV NGDQRWITQL HFAFQDENYL YLVMEYYVGG 
DLLTLLSKFG ERIPAEMARF YLAEIVMAID SVHRLGYVHR DIKPDNILLD RCGHIRLADF 
GSCLKLRADG TVRSLVAVGT PDYLSPEILQ AVGGGPGTGS YGPECDWWAL GVFAYEMFYG 
QTPFYADSTA ETYGKIVHYK EHLSLPLVDE GVPEEARDFI QRLLCPPETR LGRGGAGDFR 
THPFFFGLDW DGLRDSVPPF TPDFEGATDT CNFDLVEDGL TAMVSGGGET LSDIREGAPL 
GVHLPFVGYS YSCMALRDSE VPGPTPMELE AEQLLEPHVQ APSLEPSVSP QDETAEVAVP 
AAVPAAEAEA EVTLRELQEA LEEEVLTRQS LSREMEAIRT DNQNFASQLR EAEARNRDLE 
AHVRQLQERM ELLQAEGATA VTGVPSPRAT DPPSHLDGPT AVAVGQCPLV GPGPMHRRHL 
LLPARVPRPG LSEALSLLLF AVVLSRAAAL GCIGLVAHAG QLTAVWRRPG AARAP

Genular Protein ID: 3733207894

Symbol: B4DZE2_HUMAN

Name: N/A

UniProtKB Accession Codes:

B4DZE2

Database IDs:

ARBA 10 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChEBI 11 DNASU 1 DisGeNET 1 EC 2 EMBL 2 GO 5 Gene3D 2 InterPro 6 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 5 PeptideAtlas 1 Pfam 2 RefSeq 1 Rhea 6 SAM 1 SMART 2 SUPFAM 1

Sequence Information:

  • Length: 530
  • Mass: 59473
  • Checksum: CD312B295FFB71A0
  • Sequence:
    • MSAEVRLRRL QQLVLDPGFL GLEPLLDLLL GVHQELGASE LAQDKYVADF LQWAEPIVVR 
LKEVRLQRDD FEILKVIGRG AFIEVAVVKM KQTGQVYAMK IMNKWDMLKR GEVSCFREER 
DVLVNGDRRW ITQLHFAFQD ENYLYLVMEY YVGGDLLTLL SKFGERIPAE MARFYLAEIV 
MAIDSVHRLG YVHRDIKPDN ILLDRCGHIR LADFGSCLKL RADGTVRSLV AVGTPDYLSP 
EILQAVGGGP GTGSYGPECD WWALGVFAYE MFYGQTPFYA DSTAETYGKI VHYKEHLSLP 
LVDEGVPEEA RDFIQRLLCP PETRLGRGGA GDFRTHPFFF GLDWDGLRDS VPPFTPDFEG 
ATDTCNFDLV EDGLTAMETL SDIREGAPLG VHLPFVGYSY SCMALRDSEV PGPTPMELEA 
EQLLEPHVQA PSLEPSVSPQ DETAEVAVPA AVPAAEAEAE VTLRELQEAL EEEVLTRQSL 
SREMEAIRTD NQNFASQLRE AEARNRDLEA HVRQLQERME LLQAEGATGP

Genular Protein ID: 656382361

Symbol: E5KR05_HUMAN

Name: N/A

UniProtKB Accession Codes:

E5KR05

Database IDs:

ARBA 10 AlphaFoldDB 1 Antibodypedia 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChEBI 12 DNASU 1 DisGeNET 1 EC 2 EMBL 41 ExpressionAtlas 1 GO 5 Gene3D 2 InterPro 7 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 6 PROSITE-ProRule 1 Pfam 2 RefSeq 1 Rhea 6 SAM 1 SMART 2 SMR 1 SUPFAM 1 VEuPathDB 1

Citations:

PubMed ID: 20843780

Title: Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.

PubMed ID: 20843780

DOI: 10.1093/nar/gkq750

Sequence Information:

  • Length: 625
  • Mass: 69592
  • Checksum: 10EA0187F4AD4B7C
  • Sequence:
    • MSAEVRLRRL QQLVLDPGFL GLEPLLDLLL GVHQELGASE LAQDKYVADF LQWAEPIVVR 
LKEVRLQRDD FEILKVIGRG AFSEVAVVKM KQTGQVYAMK IMNKWDMLKR GEVSCFREER 
DVLVNGDRRW ITQLHFAFQD ENYLYLVMEY YVGGDLLTLL SKFGERIPAE MARFYLAEIV 
MAIDSVHRLG YVHRDIKPDN ILLDRCGHIR LADFGSCLKL RADGTVRSLV AVGTPDYLSP 
EILQAVGGGP GTGSYGPECD WWALGVFAYE MFYGQTPFYA DSTAETYGKI VHYKEHLSLP 
LVDEGVPEEA RDFIQRLLCP PETRLGRGGA GDFRTHPFFF GLDWDGLRDS VPPFTPDFEG 
ATDTCNFDLV EDGLTAMETL SDIREGAPLG VHLPFVGYSY SCMALRDSEV PGPTPMELEA 
EQLLEPHVQA PSLEPSVSPQ DETAEVAVPA AVPAAEAEAE VTLRELQEAL EEEVLTRQSL 
SREMEAIRTD NQNFASQLRE AEARNRDLEA HVRQLQERME LLQAEGATAV TGVPSPRATD 
PPSHMAPRPW LWASARWWGQ APCTAATCCS LPGSLGLAYR RRFPCSCSPL FCLVPPPWAA 
LGWWPTPANS PQSGAAQEPP ALPEP

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.