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HLA-C major histocompatibility complex, class I, C [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001243042 Homo sapiens major histocompatibility complex, class I, C (HLA-C), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $549.00 14
NM_002117 Homo sapiens major histocompatibility complex, class I, C (HLA-C), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $549.00 14

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Gene Symbol HLA-C
Entrez Gene ID 3107
Full Name major histocompatibility complex, class I, C
Synonyms D6S204, HLA-JY3, HLC-C, PSORS1
General protein information
Preferred Names
HLA class I histocompatibility antigen, Cw-1 alpha chain
Names
HLA class I histocompatibility antigen, Cw-1 alpha chain
MHC class I antigen heavy chain HLA-C
human leukocyte antigen-C alpha chain
major histocompatibility antigen HLA-C
HLA class I histocompatibility antigen, C alpha chain
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

6

6p21.3

Summary 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].
Disorder

MIM: 142840

{Psoriasis susceptibility 1}, 177900 (3); {HIV-1

mRNA Protein Product Sequence Price Select
NM_001243042, 339882740 NP_001229971, 339882741 HLA class I histocompatibility antigen, Cw-1 alpha chain precursor ORF Sequence $400.00
NM_002117, 339882742 NP_002108, 52630342 HLA class I histocompatibility antigen, Cw-1 alpha chain precursor ORF Sequence $400.00
KEGG
hsa04650Natural killer cell mediated cytotoxicity
hsa04612Antigen processing and presentation
hsa04514Cell adhesion molecules (CAMs)
hsa05320Autoimmune thyroid disease
hsa05332Graft-versus-host disease
hsa04940Type I diabetes mellitus
hsa05330Allograft rejection
hsa05416Viral myocarditis
hsa04144Endocytosis
hsa04145Phagosome
hsa05166HTLV-I infection
hsa05168Herpes simplex infection
hsa05169Epstein-Barr virus infection
hsa05203Viral carcinogenesis
WikiPathways
WP183Proteasome Degradation
WP2328Allograft Rejection
Reactome
REACT_6802Innate Immune System
REACT_6900Immune System
REACT_11152Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
REACT_75774Adaptive Immune System
REACT_75820Class I MHC mediated antigen processing & presentation
REACT_75795Antigen Presentation: Folding, assembly and peptide loading of class I MHC
REACT_75790Cytokine Signaling in Immune system
REACT_25229Interferon Signaling
REACT_25162Interferon alpha/beta signaling
REACT_25078Interferon gamma signaling
REACT_111119Antigen processing-Cross presentation
REACT_111178ER-Phagosome pathway
REACT_111168Endosomal/Vacuolar pathway
REACT_147694DAP12 interactions
Homo sapiens (human)HLA-CNP_002108.4
Pan troglodytes (chimpanzee)PATR-CNP_001012441.2
Macaca mulatta (Rhesus monkey)MAMU-BNP_001041710.1
Process
IDNameEvidence
GO:0001916positive regulation of T cell mediated cytotoxicityIEA
GO:0002474antigen processing and presentation of peptide antigen via MHC class ITAS
GO:0002479antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependentTAS
GO:0002480antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independentTAS
GO:0002486antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independentIDA
GO:0006955immune responseNAS
GO:0016032viral processIEA
GO:0019221cytokine-mediated signaling pathwayTAS
GO:0042590antigen processing and presentation of exogenous peptide antigen via MHC class ITAS
GO:0045087innate immune responseTAS
GO:0050776regulation of immune responseTAS
GO:0060333interferon-gamma-mediated signaling pathwayTAS
GO:0060337type I interferon signaling pathwayTAS
Component
IDNameEvidence
GO:0000139Golgi membraneTAS
GO:0005576extracellular regionIEA
GO:0005783endoplasmic reticulumIDA
GO:0005783endoplasmic reticulumISS
GO:0005794Golgi apparatusIDA
GO:0005794Golgi apparatusISS
GO:0005886plasma membraneTAS
GO:0005887integral component of plasma membraneNAS
GO:0009986cell surfaceIDA
GO:0009986cell surfaceISS
GO:0012507ER to Golgi transport vesicle membraneTAS
GO:0030670phagocytic vesicle membraneTAS
GO:0031901early endosome membraneTAS
GO:0042612MHC class I protein complexIDA
GO:0042612MHC class I protein complexISS
GO:0070062extracellular vesicular exosomeIDA
GO:0071556integral component of lumenal side of endoplasmic reticulum membraneTAS
Function
IDNameEvidence
GO:0042605peptide antigen bindingIDA
GO:0042605peptide antigen bindingISS
GO:0046977TAP bindingIDA
GeneCards HLA-C
PDB 3BZF
UniProt O19617, Q6R739, Q95HC2, P10321
Vega OTTHUMG00000031154
MIM 142840
Ensembl ENSG00000204525
HGNC 4933
HPRD 00829

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Interactant

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