Details for: MUSK

Gene ID: 4593

Symbol: MUSK

Ensembl ID: ENSG00000030304

Description: muscle associated receptor tyrosine 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: skeletal muscle fibroblast (CL0011027)
    Fold Change: 2.7717
    Cell Significance Index: 18.7800
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 2.4805
    Cell Significance Index: 35.6200
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 1.1626
    Cell Significance Index: 22.6900
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.9699
    Cell Significance Index: 24.9300
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.9334
    Cell Significance Index: 29.9000
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 0.3726
    Cell Significance Index: 3.8900
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 0.3283
    Cell Significance Index: 8.0100
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.2080
    Cell Significance Index: 4.4500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.1840
    Cell Significance Index: 11.3100
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.1822
    Cell Significance Index: 5.2500
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.1757
    Cell Significance Index: 28.5700
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.1625
    Cell Significance Index: 3.3700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1300
    Cell Significance Index: 23.4400
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.1186
    Cell Significance Index: 7.1200
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.0705
    Cell Significance Index: 3.5600
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: 0.0690
    Cell Significance Index: 1.0400
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0454
    Cell Significance Index: 8.6400
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0327
    Cell Significance Index: 0.5600
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0160
    Cell Significance Index: 3.1900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0102
    Cell Significance Index: 1.2500
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0092
    Cell Significance Index: 6.3900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0077
    Cell Significance Index: 1.5500
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.0004
    Cell Significance Index: 0.0100
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0013
    Cell Significance Index: -0.4500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0014
    Cell Significance Index: -2.5600
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0016
    Cell Significance Index: -2.9400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0021
    Cell Significance Index: -3.3000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0035
    Cell Significance Index: -4.7400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0046
    Cell Significance Index: -0.7900
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0082
    Cell Significance Index: -6.0600
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0095
    Cell Significance Index: -4.3300
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0114
    Cell Significance Index: -7.2700
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0134
    Cell Significance Index: -3.8600
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0137
    Cell Significance Index: -8.5300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0144
    Cell Significance Index: -8.1000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0144
    Cell Significance Index: -7.8700
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: -0.0211
    Cell Significance Index: -0.1300
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: -0.0254
    Cell Significance Index: -0.4100
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.0291
    Cell Significance Index: -0.4300
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0303
    Cell Significance Index: -0.6500
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0391
    Cell Significance Index: -0.5600
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0396
    Cell Significance Index: -8.3500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0434
    Cell Significance Index: -6.3100
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: -0.0511
    Cell Significance Index: -5.5600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0541
    Cell Significance Index: -7.4400
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0582
    Cell Significance Index: -4.4700
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.0611
    Cell Significance Index: -1.4800
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0697
    Cell Significance Index: -8.1200
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: -0.0710
    Cell Significance Index: -0.6300
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.0719
    Cell Significance Index: -4.9700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0724
    Cell Significance Index: -8.2900
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0733
    Cell Significance Index: -8.6400
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0749
    Cell Significance Index: -7.8000
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.0757
    Cell Significance Index: -1.6400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0761
    Cell Significance Index: -5.1200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0770
    Cell Significance Index: -4.3200
  • Cell Name: tongue muscle cell (CL0002673)
    Fold Change: -0.0801
    Cell Significance Index: -0.6000
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: -0.0917
    Cell Significance Index: -1.1600
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.1120
    Cell Significance Index: -1.3400
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.1141
    Cell Significance Index: -1.8100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.1227
    Cell Significance Index: -5.7200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1342
    Cell Significance Index: -6.3100
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1378
    Cell Significance Index: -7.1800
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.1400
    Cell Significance Index: -7.2800
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: -0.1427
    Cell Significance Index: -2.0800
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: -0.1464
    Cell Significance Index: -1.5700
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.1539
    Cell Significance Index: -2.5800
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1583
    Cell Significance Index: -7.0000
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1593
    Cell Significance Index: -5.5800
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1633
    Cell Significance Index: -5.2000
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.1650
    Cell Significance Index: -7.4800
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: -0.1651
    Cell Significance Index: -2.3500
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.1673
    Cell Significance Index: -2.4700
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1747
    Cell Significance Index: -5.7200
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.1748
    Cell Significance Index: -1.9000
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1852
    Cell Significance Index: -5.1800
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1875
    Cell Significance Index: -7.1000
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.1875
    Cell Significance Index: -6.5900
  • Cell Name: adipocyte of breast (CL0002617)
    Fold Change: -0.1898
    Cell Significance Index: -2.3900
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.2112
    Cell Significance Index: -4.4200
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.2115
    Cell Significance Index: -6.6900
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.2171
    Cell Significance Index: -7.9700
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.2186
    Cell Significance Index: -5.9500
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.2281
    Cell Significance Index: -5.6900
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.2389
    Cell Significance Index: -3.2600
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.2402
    Cell Significance Index: -4.7500
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.2444
    Cell Significance Index: -6.5500
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.2467
    Cell Significance Index: -5.3300
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.2476
    Cell Significance Index: -6.6100
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.2488
    Cell Significance Index: -5.2800
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.2621
    Cell Significance Index: -5.4700
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.2634
    Cell Significance Index: -7.5500
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.2660
    Cell Significance Index: -7.5900
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.2783
    Cell Significance Index: -6.9500
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.2789
    Cell Significance Index: -5.6000
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: -0.2801
    Cell Significance Index: -3.3000
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.2811
    Cell Significance Index: -7.0100
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.2819
    Cell Significance Index: -3.6200
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: -0.2822
    Cell Significance Index: -2.9200
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.2876
    Cell Significance Index: -8.4700

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:** MUSK is a transmembrane receptor tyrosine kinase, meaning it possesses an extracellular ligand-binding domain, a transmembrane domain, and an intracellular tyrosine kinase domain. The protein is highly phosphorylated, and its activity is regulated by various signaling pathways, including the ERK1/2 cascade. MUSK is also involved in the regulation of protein geranylgeranylation and protein phosphorylation, suggesting its role in modulating protein function and localization. **Pathways and Functions:** MUSK is involved in several key signaling pathways, including: 1. **Neuromuscular Junction Development:** MUSK plays a crucial role in the development of NMJs, regulating synaptic assembly and neurotransmitter release. 2. **Cell Differentiation:** MUSK is involved in the regulation of cell differentiation, particularly in retinal bipolar neurons and skeletal muscle satellite stem cells. 3. **Protein Autophosphorylation:** MUSK's tyrosine kinase activity is essential for protein autophosphorylation, which regulates protein function and localization. 4. **Protein Binding:** MUSK interacts with various proteins, including receptor complexes and postsynaptic membrane proteins, to regulate synaptic function. **Clinical Significance:** Dysregulation of MUSK has been implicated in several neuromuscular disorders, including: 1. **Myasthenia Gravis:** A autoimmune disease characterized by muscle weakness and fatigue, caused by antibodies against the acetylcholine receptor. 2. **Lambert-Eaton Myasthenic Syndrome:** A rare autoimmune disorder characterized by muscle weakness and fatigue, caused by antibodies against the presynaptic voltage-gated calcium channel. 3. **Congenital Myasthenic Syndrome:** A group of rare genetic disorders characterized by muscle weakness and fatigue, caused by mutations in genes involved in neuromuscular junction development and function. In conclusion, the MUSK gene plays a critical role in the development and function of neuromuscular junctions, and its dysregulation has been implicated in several neuromuscular disorders. Further research is needed to fully understand the mechanisms underlying MUSK's role in neuromuscular junction development and function, and to explore potential therapeutic strategies for the treatment of neuromuscular disorders.

Genular Protein ID: 1008440379

Symbol: MUSK_HUMAN

Name: Muscle, skeletal receptor tyrosine-protein kinase

UniProtKB Accession Codes:

O15146 Q32MJ8 Q32MJ9 Q5VZW7 Q5VZW8

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 3 CTD 1 ChEBI 8 ChEMBL 1 ChiTaRS 1 DNASU 1 DisGeNET 1 DrugBank 1 DrugCentral 1 EC 1 EMBL 5 EMDB 1 Ensembl 2 ExpressionAtlas 1 GO 21 Gene3D 3 GeneCards 1 GeneReviews 1 GeneTree 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 15 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PIRSF 1 PRINTS 1 PRO 1 PROSITE 5 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 4 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 RNAct 1 Reactome 1 RefSeq 3 Rhea 3 SIGNOR 1 SMART 3 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7546737

Title: Receptor tyrosine kinase specific for the skeletal muscle lineage: expression in embryonic muscle, at the neuromuscular junction, and after injury.

PubMed ID: 7546737

DOI: 10.1016/0896-6273(95)90146-9

PubMed ID: 15164053

Title: DNA sequence and analysis of human chromosome 9.

PubMed ID: 15164053

DOI: 10.1038/nature02465

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: 20603078

Title: The cytoplasmic adaptor protein Dok7 activates the receptor tyrosine kinase MuSK via dimerization.

PubMed ID: 20603078

DOI: 10.1016/j.molcel.2010.06.007

PubMed ID: 20596523

Title: Development and validation of a method for profiling post-translational modification activities using protein microarrays.

PubMed ID: 20596523

DOI: 10.1371/journal.pone.0011332

PubMed ID: 25029443

Title: Evolutionary divergence in the catalytic activity of the CAM-1, ROR1 and ROR2 kinase domains.

PubMed ID: 25029443

DOI: 10.1371/journal.pone.0102695

PubMed ID: 15496425

Title: MUSK, a new target for mutations causing congenital myasthenic syndrome.

PubMed ID: 15496425

DOI: 10.1093/hmg/ddh333

PubMed ID: 17344846

Title: Patterns of somatic mutation in human cancer genomes.

PubMed ID: 17344846

DOI: 10.1038/nature05610

PubMed ID: 19949040

Title: Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes.

PubMed ID: 19949040

DOI: 10.1212/wnl.0b013e3181c3fce9

PubMed ID: 20371544

Title: Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction.

PubMed ID: 20371544

DOI: 10.1093/hmg/ddq110

PubMed ID: 23326516

Title: A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia.

PubMed ID: 23326516

DOI: 10.1371/journal.pone.0053826

PubMed ID: 25537362

Title: Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence.

PubMed ID: 25537362

DOI: 10.1038/ejhg.2014.273

PubMed ID: 24183479

Title: Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK.

PubMed ID: 24183479

DOI: 10.1016/j.nmd.2013.08.002

PubMed ID: 25612909

Title: MuSK: a new target for lethal fetal akinesia deformation sequence (FADS).

PubMed ID: 25612909

DOI: 10.1136/jmedgenet-2014-102730

Sequence Information:

  • Length: 869
  • Mass: 97056
  • Checksum: 3DDC20E179FA010C
  • Sequence:
    • MRELVNIPLV HILTLVAFSG TEKLPKAPVI TTPLETVDAL VEEVATFMCA VESYPQPEIS 
WTRNKILIKL FDTRYSIREN GQLLTILSVE DSDDGIYCCT ANNGVGGAVE SCGALQVKMK 
PKITRPPINV KIIEGLKAVL PCTTMGNPKP SVSWIKGDSP LRENSRIAVL ESGSLRIHNV 
QKEDAGQYRC VAKNSLGTAY SKVVKLEVEV FARILRAPES HNVTFGSFVT LHCTATGIPV 
PTITWIENGN AVSSGSIQES VKDRVIDSRL QLFITKPGLY TCIATNKHGE KFSTAKAAAT 
ISIAEWSKPQ KDNKGYCAQY RGEVCNAVLA KDALVFLNTS YADPEEAQEL LVHTAWNELK 
VVSPVCRPAA EALLCNHIFQ ECSPGVVPTP IPICREYCLA VKELFCAKEW LVMEEKTHRG 
LYRSEMHLLS VPECSKLPSM HWDPTACARL PHLDYNKENL KTFPPMTSSK PSVDIPNLPS 
SSSSSFSVSP TYSMTVIISI MSSFAIFVLL TITTLYCCRR RKQWKNKKRE SAAVTLTTLP 
SELLLDRLHP NPMYQRMPLL LNPKLLSLEY PRNNIEYVRD IGEGAFGRVF QARAPGLLPY 
EPFTMVAVKM LKEEASADMQ ADFQREAALM AEFDNPNIVK LLGVCAVGKP MCLLFEYMAY 
GDLNEFLRSM SPHTVCSLSH SDLSMRAQVS SPGPPPLSCA EQLCIARQVA AGMAYLSERK 
FVHRDLATRN CLVGENMVVK IADFGLSRNI YSADYYKANE NDAIPIRWMP PESIFYNRYT 
TESDVWAYGV VLWEIFSYGL QPYYGMAHEE VIYYVRDGNI LSCPENCPVE LYNLMRLCWS 
KLPADRPSFT SIHRILERMC ERAEGTVSV

Genular Protein ID: 2758586993

Symbol: A0A087WSY1_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A087WSY1

Database IDs:

ARBA 20 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CDD 3 CTD 1 ChEBI 11 ChiTaRS 1 DNASU 1 DisGeNET 1 EC 1 EMBL 2 Ensembl 2 ExpressionAtlas 1 GO 5 Gene3D 3 GeneTree 1 HGNC 1 InterPro 15 MassIVE 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRSF 1 PIRSR 3 PRINTS 1 PROSITE 8 PROSITE-ProRule 2 PeptideAtlas 2 Pfam 4 Proteomes 2 RefSeq 1 Rhea 3 SAM 1 SMART 3 SMR 1 SUPFAM 2 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15164053

Title: DNA sequence and analysis of human chromosome 9.

PubMed ID: 15164053

DOI: 10.1038/nature02465

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

Sequence Information:

  • Length: 861
  • Mass: 96021
  • Checksum: 3C88439599E9709A
  • Sequence:
    • MRELVNIPLV HILTLVAFSG TEKLPKAPVI TTPLETVDAL VEEVATFMCA VESYPQPEIS 
WTRNKILIKL FDTRYSIREN GQLLTILSVE DSDDGIYCCT ANNGVGGAVE SCGALQVKMK 
PKITRPPINV KIIEGLKAVL PCTTMGNPKP SVSWIKGDSP LRENSRIAVL ESGSLRIHNV 
QKEDAGQYRC VAKNSLGTAY SKVVKLEVEV FARILRAPES HNVTFGSFVT LHCTATGIPV 
PTITWIENGN AVSSGSIQES VKDRVIDSRL QLFITKPGLY TCIATNKHGE KFSTAKAAAT 
ISIAEWSKPQ KDNKGYCAQY RGEVCNAVLA KDALVFLNTS YADPEEAQEL LVHTAWNELK 
VVSPVCRPAA EALLCNHIFQ ECSPGVVPTP IPICREYCLA VKELFCAKEW LVMEEKTHRG 
LYRSEMHLLS VPECSKLPSM HWDPTACARL PHLAFPPMTS SKPSVDIPNL PSSSSSSFSV 
SPTYSMTVII SIMSSFAIFV LLTITTLYCC RRRKQWKNKK RESAAVTLTT LPSELLLDRL 
HPNPMYQRMP LLLNPKLLSL EYPRNNIEYV RDIGEGAFGR VFQARAPGLL PYEPFTMVAV 
KMLKEEASAD MQADFQREAA LMAEFDNPNI VKLLGVCAVG KPMCLLFEYM AYGDLNEFLR 
SMSPHTVCSL SHSDLSMRAQ VSSPGPPPLS CAEQLCIARQ VAAGMAYLSE RKFVHRDLAT 
RNCLVGENMV VKIADFGLSR NIYSADYYKA NENDAIPIRW MPPESIFYNR YTTESDVWAY 
GVVLWEIFSY GLQPYYGMAH EEVIYYVRDG NILSCPENCP VELYNLMRLC WSKLPADRPS 
FTSIHRILER MCERAEGTVS V

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.