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HLA-C Gene(Protein Coding)

Major Histocompatibility Complex, Class I, C

GCID:
GC06M031272
GIFtS:
52
Genes Participants
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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]

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 Cytokine Signaling in Immune system and Allograft rejection. Gene Ontology (GO) annotations related to this gene include receptor binding and TAP binding. An important paralog of this gene is HLA-B.

UniProtKB/Swiss-Prot for HLA-C Gene

  • Involved in the presentation of foreign antigens to the immune system.

Gene Wiki entry for HLA-C Gene

Additional gene information 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

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for HLA-C Gene

Promoters and enhancers for HLA-C Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH06I031269 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 663.6 +0.7 675 4.4 HDGF PKNOX1 ATF1 SMAD1 ARID4B SIN3A GLI4 ZNF2 IRF4 YY1 HLA-C PIR41455 PSORS1C3 PPT2 TNXB LSM2 PSORS1C2 HCG18 HCG27 ENSG00000229836
GH06I031273 Enhancer 0.7 Ensembl ENCODE dbSUPER 582.4 -1.8 -1846 0.4 ZNF362 HLA-C USP8P1 PSORS1C3 PSORS1C2 TCF19 ENSG00000272501 HLA-B
GH06I031352 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 41.9 -84.1 -84056 7 HDGF PKNOX1 ATF1 SMAD1 NSD2 ZNF2 IRF4 GLIS2 ZNF207 ZNF143 HLA-B ENSG00000271581 GC06M031409 GC06M031410 PIR40863 MIR6891 HLA-C DDX39B MICA LY6G5B
GH06I031307 Enhancer 1.1 FANTOM5 Ensembl ENCODE 59.7 -36.3 -36320 1.3 ZNF687 MAZ PKNOX1 HCFC1 DDX20 SIN3A EBF1 SP1 ZNF217 PBX2 LINC02571 ENSG00000229836 HLA-C PSORS1C3 GPANK1 BAG6 PSORS1C2 CCHCR1 MDC1 TRIM39
GH06I031398 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 25.6 -129.8 -129776 5.8 MLX ZFP64 DMAP1 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC MEF2D MICA GC06M031407 HCP5 ENSG00000199332 MICA-AS1 DDX39B HLA-C DHX16 SKIV2L MICB
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

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:

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)

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). 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

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

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for HLA-C Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P30499

UniProtKB/Swiss-Prot:

1C05_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

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.

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 receptor binding IBA --
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

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
mitochondrion 1
cytosol 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

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 5 interactants - click image to see 25)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000365402%0d%0a9606.ENSP00000452780%0d%0a9606.ENSP00000316328%0d%0a9606.ENSP00000385432%0d%0a9606.ENSP00000268638%0d%0a9606.ENSP00000342513%0d%0a
Selected Interacting proteins: P10321-1C07_HUMAN P30504-1C04_HUMAN P30508-1C12_HUMAN ENSP00000365402 P30501-1C02_HUMAN P30499-1C01_HUMAN P30505-1C08_HUMAN Q95604-1C17_HUMAN Q29865-1C18_HUMAN Q29960-1C16_HUMAN Q07000-1C15_HUMAN P04222-1C03_HUMAN Q9TNN7-1C05_HUMAN Q29963-1C06_HUMAN P30510-1C14_HUMAN for HLA-C Gene via IID STRING UniProtKB MINT

Symbol External ID(s) Details
HLA-B
HLA-A
HLA-C
HLA-DRB1
KIR2DL1

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 TAS,IEA --
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

Products:

  1. Drug

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

Name Status Disease L