HLA-C Gene (Protein Coding)

Major Histocompatibility Complex, Class I, C

GC06M031272
GIFtS:
44
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 h... See more...

Aliases for HLA-C Gene

Aliases for HLA-C Gene

  • Major Histocompatibility Complex, Class I, C 2 3 5
  • HLA Class I Histocompatibility Antigen, Cw-1 Alpha Chain 3 4
  • HLA-JY3 3 4
  • D6S204 3 4
  • HLAC 3 4
  • HLA Class I Histocompatibility Antigen, Cw-12 Alpha Chain 4
  • HLA Class I Histocompatibility Antigen, Cw-14 Alpha Chain 4
  • HLA Class I Histocompatibility Antigen, Cw-15 Alpha Chain 4
  • HLA Class I Histocompatibility Antigen, Cw-16 Alpha Chain 4
  • HLA Class I Histocompatibility Antigen, Cw-17 Alpha Chain 4
  • HLA Class I Histocompatibility Antigen, Cw-18 Alpha Chain 4
  • HLA Class I Histocompatibility Antigen, Cw-2 Alpha Chain 4
  • HLA Class I Histocompatibility Antigen, Cw-3 Alpha Chain 4
  • HLA Class I Histocompatibility Antigen, Cw-4 Alpha Chain 4
  • HLA Class I Histocompatibility Antigen, Cw-5 Alpha Chain 4
  • HLA Class I Histocompatibility Antigen, Cw-6 Alpha Chain 4
  • HLA Class I Histocompatibility Antigen, Cw-7 Alpha Chain 4
  • HLA Class I Histocompatibility Antigen, Cw-8 Alpha Chain 4
  • 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]

CIViC Summary for HLA-C Gene

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 1 and Human Immunodeficiency Virus Type 1. Among its related pathways are Phagosome and Interferon gamma signaling. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and TAP binding. An important paralog of this gene is HLA-B.

UniProtKB/Swiss-Prot Summary for HLA-C Gene

Gene Wiki entry for HLA-C Gene

Additional gene information for HLA-C Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HLA-C Gene

Genomics for HLA-C Gene

GeneHancer (GH) Regulatory Elements for HLA-C Gene

Promoters and enhancers for HLA-C Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

Top Transcription factor binding sites by QIAGEN in the HLA-C gene promoter:
  • AP-1
  • AP-2gamma
  • ARP-1
  • ATF-2
  • ATF6
  • c-Jun
  • CUTL1
  • POU2F1
  • USF-1
  • USF1

Genomic Locations for HLA-C Gene

Genomic Locations for HLA-C Gene
chr6:31,268,749-31,272,136
(GRCh38/hg38)
Size:
3,388 bases
Orientation:
Minus strand
chr6:31,236,526-31,239,907
(GRCh37/hg19)
Size:
3,382 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 Structure • Gene Density

RefSeq DNA sequence for HLA-C Gene

Proteins for HLA-C Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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).

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

neXtProt entry for HLA-C Gene

Protein Expression for HLA-C Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for HLA-C Gene

Other Protein References for HLA-C Gene

ENSEMBL proteins:
REFSEQ proteins:

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

Domains & Families for HLA-C Gene

Gene Families for HLA-C Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for HLA-C Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for HLA-C Gene

GenScript: Design optimal peptide antigens:
  • MHC class I antigen Cw*1 (1C01_HUMAN)
  • MHC class I antigen Cw*2 (1C02_HUMAN)
  • MHC class I antigen Cw*3 (1C03_HUMAN)
  • MHC class I antigen Cw*4 (1C04_HUMAN)
  • MHC class I antigen Cw*5 (1C05_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P30499

UniProtKB/Swiss-Prot:

1C06_HUMAN :
  • Belongs to the MHC class I family.
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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for HLA-C Gene

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

Phenotypes From GWAS Catalog for HLA-C Gene

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 signaling receptor binding IBA 21873635
GO:0005515 protein binding IPI 18322206
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

CRISPR Products

miRNA for HLA-C Gene

miRTarBase miRNAs that target HLA-C

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HLA-C

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

Membrane; Single-pass type I membrane protein.
Isoform 1: Cell membrane; Single-pass type I membrane protein.
Isoform 2: Secreted.

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
cytoskeleton 1
nucleus 1
cytosol 1
lysosome 1
mitochondrion 0

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005615 extracellular space IBA 21873635
GO:0005783 endoplasmic reticulum ISS --
GO:0005794 Golgi apparatus ISS --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with HLA-C: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HLA-C Gene

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 top 5 STRING interactants - click image to see top 25)
STRING Interaction Network
Selected Interacting proteins: P30499-1C01_HUMAN Q29963-1C06_HUMAN Q9TNN7-1C05_HUMAN P30501-1C02_HUMAN Q07000-1C15_HUMAN Q29960-1C16_HUMAN Q29865-1C18_HUMAN P30505-1C08_HUMAN P04222-1C03_HUMAN Q95604-1C17_HUMAN P30504-1C04_HUMAN P10321-1C07_HUMAN ENSP00000365402 P30508-1C12_HUMAN P30510-1C14_HUMAN for HLA-C Gene via UniProtKB MINT STRING IID

Symbol External ID(s) Details
HLA-B