ENSG00000204525


Homo sapiens

Features
Gene ID: ENSG00000204525
  
Biological name :HLA-C
  
Synonyms : HLA-C / major histocompatibility complex, class I, C / P10321
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: -1
Band: p21.33
Gene start: 31268749
Gene end: 31272130
  
Corresponding Affymetrix probe sets: 208812_x_at (Human Genome U133 Plus 2.0 Array)   211799_x_at (Human Genome U133 Plus 2.0 Array)   214459_x_at (Human Genome U133 Plus 2.0 Array)   216526_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000365412
Ensembl peptide - ENSP00000492782
Ensembl peptide - ENSP00000400410
Ensembl peptide - ENSP00000372819
Ensembl peptide - ENSP00000365402
NCBI entrez gene - 3107     See in Manteia.
OMIM - 142840
RefSeq - NM_002117
RefSeq Peptide - NP_002108
swissprot - A0A140T9E1
swissprot - F8W9Z8
swissprot - P10321
swissprot - A2AEA2
swissprot - Q6R739
swissprot - A0A1W2PRU9
Ensembl - ENSG00000204525
  
Related genetic diseases (OMIM): 177900 - {Psoriasis susceptibility 1}, 177900
  609423 - {HIV-1 viremia, susceptibility to}, 609423
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 Gm11127ENSMUSG00000079492Mus musculus
 Gm7030ENSMUSG00000092243Mus musculus
 Gm8909ENSMUSG00000073402Mus musculus
 H2-BlENSMUSG00000073406Mus musculus
 H2-D1ENSMUSG00000073411Mus musculus
 H2-K1ENSMUSG00000061232Mus musculus
 H2-M1ENSMUSG00000037334Mus musculus
 H2-M11ENSMUSG00000037537Mus musculus
 H2-M2ENSMUSG00000016283Mus musculus
 H2-M3ENSMUSG00000016206Mus musculus
 H2-M5ENSMUSG00000024459Mus musculus
 H2-M9ENSMUSG00000067201Mus musculus
 H2-Q1ENSMUSG00000079507Mus musculus
 H2-Q10ENSMUSG00000067235Mus musculus
 H2-Q2ENSMUSG00000091705Mus musculus
 H2-Q4ENSMUSG00000035929Mus musculus
 H2-Q5ENSMUSG00000055413Mus musculus
 H2-Q6ENSMUSG00000073409Mus musculus
 H2-Q7ENSMUSG00000060550Mus musculus
 H2-T23ENSMUSG00000067212Mus musculus
 H2-T3ENSMUSG00000054128Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
HLA-B / P30480 / P30486 / Q29836 / Q31610 / Q31612 / P01889 / major histocompatibility complex, class I, BENSG0000023474586
HLA-A / P04439 / P13746 / P16188 / major histocompatibility complex, class I, AENSG0000020650381
HLA-F / P30511 / major histocompatibility complex, class I, FENSG0000020464275
HLA-G / P17693 / major histocompatibility complex, class I, GENSG0000020463274
HLA-E / major histocompatibility complex, class I, EENSG0000020459274


Protein motifs (from Interpro)
Interpro ID Name
 IPR001039  MHC class I alpha chain, alpha1 alpha2 domains
 IPR003597  Immunoglobulin C1-set
 IPR007110  Immunoglobulin-like domain
 IPR010579  MHC class I, alpha chain, C-terminal
 IPR011161  MHC class I-like antigen recognition-like
 IPR011162  MHC classes I/II-like antigen recognition protein
 IPR013783  Immunoglobulin-like fold
 IPR036179  Immunoglobulin-like domain superfamily
 IPR037055  MHC class I-like antigen recognition-like superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002376 immune system process IEA
 biological_processGO:0002474 antigen processing and presentation of peptide antigen via MHC class I IEA
 biological_processGO:0002479 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS
 biological_processGO:0002480 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent TAS
 biological_processGO:0006955 immune response IEA
 biological_processGO:0016032 viral process IEA
 biological_processGO:0019882 antigen processing and presentation IEA
 biological_processGO:0043312 neutrophil degranulation TAS
 biological_processGO:0050776 regulation of immune response TAS
 biological_processGO:0060333 interferon-gamma-mediated signaling pathway TAS
 biological_processGO:0060337 type I interferon signaling pathway TAS
 cellular_componentGO:0000139 Golgi membrane TAS
 cellular_componentGO:0005783 endoplasmic reticulum ISS
 cellular_componentGO:0005794 Golgi apparatus ISS
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0009986 cell surface IDA
 cellular_componentGO:0012507 ER to Golgi transport vesicle membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030667 secretory granule membrane TAS
 cellular_componentGO:0030670 phagocytic vesicle membrane TAS
 cellular_componentGO:0031901 early endosome membrane TAS
 cellular_componentGO:0042612 MHC class I protein complex IEA
 cellular_componentGO:0055038 recycling endosome membrane TAS
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:0071556 integral component of lumenal side of endoplasmic reticulum membrane TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0042605 peptide antigen binding ISS


Pathways (from Reactome)
Pathway description
ER-Phagosome pathway
Endosomal/Vacuolar pathway
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
Neutrophil degranulation
Interferon gamma signaling
Interferon alpha/beta signaling
Antigen Presentation: Folding, assembly and peptide loading of class I MHC


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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