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Aliases for HLA-C Gene

Aliases for HLA-C Gene

  • Major Histocompatibility Complex, Class I, C 2 3 5
  • HLA-JY3 3 4
  • D6S204 3 4
  • HLAC 3 4
  • HLA Class I Histocompatibility Antigen, Cw-1 Alpha Chain 3
  • HLA Class I Histocompatibility Antigen, C Alpha Chain 3
  • Major Histocompatibility Antigen HLA-C 3
  • MHC Class I Antigen Heavy Chain HLA-C 3
  • Human Leukocyte Antigen-C Alpha Chain 3
  • Psoriasis Susceptibility 1 2
  • MHC Class I Antigen Cw*12 4
  • MHC Class I Antigen Cw*14 4
  • MHC Class I Antigen Cw*15 4
  • MHC Class I Antigen Cw*16 4
  • MHC Class I Antigen Cw*17 4
  • MHC Class I Antigen Cw*18 4
  • MHC Class I Antigen Cw*1 4
  • MHC Class I Antigen Cw*2 4
  • MHC Class I Antigen Cw*3 4
  • MHC Class I Antigen Cw*4 4
  • MHC Class I Antigen Cw*5 4
  • MHC Class I Antigen Cw*6 4
  • MHC Class I Antigen Cw*7 4
  • MHC Class I Antigen Cw*8 4
  • HLA-C Alpha Chain 3
  • HLA-C Antigen 3
  • PSORS1 3
  • HLC-C 3
  • MHC 3

External Ids for HLA-C Gene

Previous HGNC Symbols for HLA-C Gene

  • HLA-JY3
  • D6S204
  • PSORS1

Previous GeneCards Identifiers for HLA-C Gene

  • GC06M031290
  • GC06M031007
  • GC06M031341
  • GC06M031344
  • GC06M031236

Summaries for HLA-C Gene

Entrez Gene Summary for HLA-C Gene

  • HLA-C belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Over one hundred HLA-C alleles have been described [provided by RefSeq, Jul 2008]

GeneCards Summary for HLA-C Gene

HLA-C (Major Histocompatibility Complex, Class I, C) is a Protein Coding gene. Diseases associated with HLA-C include Psoriasis Susceptibility 1 and Hiv-1. Among its related pathways are Interferon gamma signaling and HTLV-I infection. GO annotations related to this gene include receptor binding and TAP binding. An important paralog of this gene is HLA-B.

Gene Wiki entry for HLA-C Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HLA-C Gene

Genomics for HLA-C Gene

Regulatory Elements for HLA-C Gene

Enhancers for HLA-C Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06F031269 1.3 FANTOM5 ENCODE 113.5 +0.7 675 4.4 HDGF PKNOX1 ATF1 WRNIP1 ARID4B GLI4 ZNF2 ZNF121 GLIS2 ZNF416 HLA-C PSORS1C3 PPT2 DDX39B LY6G5B TCF19 LSM2 PSORS1C2 ATF6B MICA
GH06F031352 1.3 FANTOM5 ENCODE 41.9 -84.1 -84056 7.0 HDGF PKNOX1 ATF1 ZNF493 WRNIP1 ZFP64 SIN3A NSD2 ZNF2 GLIS2 LY6G5B DDX39B ATF6B NFKBIL1 LSM2 PPP1R10 DHX16 HLA-C PPT2 GTF2H4
GH06F031245 1.2 Ensembl ENCODE 33.7 +25.8 25836 1.0 ELF3 INSM2 ZNF76 KLF17 RAD21 ZNF2 RARA RFX5 ZNF366 SCRT2 HLA-C CCHCR1 ENSG00000272501 HCG21 POU5F1 PSORS1C3 PSORS1C1 DDX39B SNORD117 HLA-L
GH06F031207 1.1 Ensembl ENCODE 30.3 +62.6 62587 3.3 ELF3 ARID4B DMAP1 THRB ZNF48 RARA ZNF766 CREM THAP11 JUNB POU5F1 PSORS1C3 HLA-C HCG27 CCHCR1 ENSG00000272501 ENSG00000229836 ENSG00000271581 HLA-B AGER
GH06F031196 1.2 ENCODE 27.5 +74.2 74239 3.1 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 CBX5 PSORS1C3 ENSG00000272501 POU5F1 PSORS1C2 DDX39B HLA-C ABCF1 LY6G5B DHX16 CCHCR1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HLA-C on UCSC Golden Path with GeneCards custom track

Promoters for HLA-C Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000025246 236 2201 ATF1 ARID4B GLI4 ZNF2 ZNF121 SLC30A9 GLIS2 ZNF416 ZNF207 ZNF143

Genomic Location for HLA-C Gene

Chromosome:
6
Start:
31,268,749 bp from pter
End:
31,272,136 bp from pter
Size:
3,388 bases
Orientation:
Minus strand

Genomic View for HLA-C Gene

Genes around HLA-C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HLA-C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HLA-C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for HLA-C Gene

  • Protein details for HLA-C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P04222-1C03_HUMAN
    Recommended name:
    HLA class I histocompatibility antigen, Cw-3 alpha chain
    Protein Accession:
    P04222
    Secondary Accessions:
    • O62883
    • O78060
    • O78068
    • O78069
    • P30503
    • Q29743
    • Q29992
    • Q29993
    • Q9GIK8
    • Q9TQB4

    Protein attributes for HLA-C Gene

    Size:
    366 amino acids
    Molecular mass:
    40861 Da
    Quaternary structure:
    • Heterodimer of an alpha chain and a beta chain (beta-2-microglobulin). Interacts with human herpesvirus 8 MIR1 protein (By similarity).

    Three dimensional structures from OCA and Proteopedia for HLA-C Gene

neXtProt entry for HLA-C Gene

Post-translational modifications for HLA-C Gene

Other Protein References for HLA-C Gene

Antibody Products

  • Cloud-Clone Corp. Antibodies for HLA-C

No data available for DME Specific Peptides for HLA-C Gene

Domains & Families for HLA-C Gene

Graphical View of Domain Structure for InterPro Entry

P30499

UniProtKB/Swiss-Prot:

1C05_HUMAN :
  • Contains 1 Ig-like C1-type (immunoglobulin-like) domain.
  • Belongs to the MHC class I family.
Domain:
  • Contains 1 Ig-like C1-type (immunoglobulin-like) domain.
Family:
  • Belongs to the MHC class I family.
genes like me logo Genes that share domains with HLA-C: view

Function for HLA-C Gene

Molecular function for HLA-C Gene

GENATLAS Biochemistry:
HLA-C,alpha chain,44kDa,class Ia (see MHC1)
UniProtKB/Swiss-Prot Function:
Involved in the presentation of foreign antigens to the immune system.

Gene Ontology (GO) - Molecular Function for HLA-C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003823 antigen binding IBA --
GO:0042605 peptide antigen binding ISS --
genes like me logo Genes that share ontologies with HLA-C: view
genes like me logo Genes that share phenotypes with HLA-C: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HLA-C Gene

Localization for HLA-C Gene

Subcellular locations from UniProtKB/Swiss-Prot for HLA-C Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HLA-C gene
Compartment Confidence
plasma membrane 5
extracellular 5
endoplasmic reticulum 5
golgi apparatus 5
endosome 4
mitochondrion 1
lysosome 1

Gene Ontology (GO) - Cellular Components for HLA-C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005783 endoplasmic reticulum ISS --
GO:0005794 Golgi apparatus ISS --
GO:0005886 plasma membrane TAS --
GO:0009986 cell surface ISS,IDA --
genes like me logo Genes that share ontologies with HLA-C: view

Pathways & Interactions for HLA-C Gene

genes like me logo Genes that share pathways with HLA-C: view

Interacting Proteins for HLA-C Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000365402%0d%0a9606.ENSP00000344818%0d%0a9606.ENSP00000342215%0d%0a9606.ENSP00000370343%0d%0a9606.ENSP00000342513%0d%0a9606.ENSP00000382707%0d%0a

Symbol External ID(s) Details
HLA-B
HLA-A
HLA-C
HLA-DRB1
B2M

Gene Ontology (GO) - Biological Process for HLA-C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002376 immune system process IEA --
GO:0002474 antigen processing and presentation of peptide antigen via MHC class I IEA,TAS --
GO:0002479 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS --
GO:0002480 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent TAS --
GO:0006955 immune response IEA --
genes like me logo Genes that share ontologies with HLA-C: view

No data available for SIGNOR curated interactions for HLA-C Gene

Drugs & Compounds for HLA-C Gene

(5) Drugs for HLA-C Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Allopurinol Approved Pharma 137
Methazolamide Approved Pharma Carbonic anhydrase inhibitor 7
Nevirapine Approved Pharma 222
Ticlopidine Approved Pharma 457
Ustekinumab Approved, Investigational Pharma 82
genes like me logo Genes that share compounds with HLA-C: view

Transcripts for HLA-C Gene

Unigene Clusters for HLA-C Gene

Major histocompatibility complex, class I, C:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products