Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3107
Gene name	Major histocompatibility complex, class I, C
Gene symbol	HLA-C
Synonyms (NCBI Gene)	D6S204HLA-JY3HLACHLC-CMHCPSORS1
Chromosome	6
Chromosome location	6p21.33
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

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miRTarBase ID	miRNA	Experiments	Reference
MIRT051644	hsa-let-7e-5p	CLASH	23622248
MIRT042611	hsa-miR-423-3p	CLASH	23622248
MIRT041720	hsa-miR-484	CLASH	23622248
MIRT487939	hsa-miR-6854-5p	PAR-CLIP	23592263
MIRT487938	hsa-miR-148a-3p	PAR-CLIP	23592263
MIRT487937	hsa-miR-148b-3p	PAR-CLIP	23592263
MIRT487936	hsa-miR-152-3p	PAR-CLIP	23592263
MIRT487935	hsa-miR-4524a-3p	PAR-CLIP	23592263
MIRT487934	hsa-miR-767-5p	PAR-CLIP	23592263
MIRT487933	hsa-miR-4660	PAR-CLIP	23592263
MIRT487931	hsa-miR-3672	PAR-CLIP	23592263
MIRT487932	hsa-miR-6864-3p	PAR-CLIP	23592263
MIRT487938	hsa-miR-148a-3p	PAR-CLIP	26701625
MIRT487937	hsa-miR-148b-3p	PAR-CLIP	26701625
MIRT487936	hsa-miR-152-3p	PAR-CLIP	26701625
MIRT487931	hsa-miR-3672	PAR-CLIP	26701625
MIRT487935	hsa-miR-4524a-3p	PAR-CLIP	26701625
MIRT487933	hsa-miR-4660	PAR-CLIP	26701625
MIRT487939	hsa-miR-6854-5p	PAR-CLIP	26701625
MIRT487932	hsa-miR-6864-3p	PAR-CLIP	26701625
MIRT487934	hsa-miR-767-5p	PAR-CLIP	26701625
MIRT487938	hsa-miR-148a-3p	RNA-seqqRT-PCR	31578687
MIRT487939	hsa-miR-6854-5p	PAR-CLIP	23592263
MIRT487938	hsa-miR-148a-3p	PAR-CLIP	23592263
MIRT487937	hsa-miR-148b-3p	PAR-CLIP	23592263
MIRT487936	hsa-miR-152-3p	PAR-CLIP	23592263
MIRT487935	hsa-miR-4524a-3p	PAR-CLIP	23592263
MIRT487934	hsa-miR-767-5p	PAR-CLIP	23592263
MIRT487933	hsa-miR-4660	PAR-CLIP	23592263
MIRT487931	hsa-miR-3672	PAR-CLIP	23592263
MIRT487932	hsa-miR-6864-3p	PAR-CLIP	23592263
MIRT1048289	hsa-miR-1224-3p	CLIP-seq
MIRT1048290	hsa-miR-3138	CLIP-seq
MIRT1048291	hsa-miR-3151	CLIP-seq
MIRT1048292	hsa-miR-3191	CLIP-seq
MIRT1048293	hsa-miR-4323	CLIP-seq
MIRT1048294	hsa-miR-4462	CLIP-seq
MIRT1048295	hsa-miR-4758-3p	CLIP-seq
MIRT1549529	hsa-miR-3166	CLIP-seq
MIRT1549530	hsa-miR-4311	CLIP-seq
MIRT1549531	hsa-miR-4708-5p	CLIP-seq
MIRT1556533	hsa-miR-23a	CLIP-seq
MIRT1556534	hsa-miR-23b	CLIP-seq
MIRT1556535	hsa-miR-23c	CLIP-seq
MIRT1556536	hsa-miR-3146	CLIP-seq
MIRT1048289	hsa-miR-1224-3p	CLIP-seq
MIRT2010979	hsa-miR-181a	CLIP-seq
MIRT2010980	hsa-miR-181b	CLIP-seq
MIRT2010981	hsa-miR-181c	CLIP-seq
MIRT2010982	hsa-miR-181d	CLIP-seq
MIRT2010983	hsa-miR-2467-5p	CLIP-seq
MIRT2010984	hsa-miR-4262	CLIP-seq
MIRT1549530	hsa-miR-4311	CLIP-seq
MIRT1549531	hsa-miR-4708-5p	CLIP-seq
MIRT2010985	hsa-miR-593	CLIP-seq
MIRT2010986	hsa-miR-626	CLIP-seq
MIRT2010987	hsa-miR-642b	CLIP-seq
MIRT2243221	hsa-miR-103b	CLIP-seq
MIRT2243222	hsa-miR-1301	CLIP-seq
MIRT2243223	hsa-miR-146a	CLIP-seq
MIRT2243224	hsa-miR-146b-5p	CLIP-seq
MIRT2243225	hsa-miR-148a	CLIP-seq
MIRT2243226	hsa-miR-148b	CLIP-seq
MIRT2243227	hsa-miR-152	CLIP-seq
MIRT2243228	hsa-miR-1587	CLIP-seq
MIRT2243229	hsa-miR-224	CLIP-seq
MIRT2010983	hsa-miR-2467-5p	CLIP-seq
MIRT1048290	hsa-miR-3138	CLIP-seq
MIRT1048291	hsa-miR-3151	CLIP-seq
MIRT2243230	hsa-miR-3162-5p	CLIP-seq
MIRT1048292	hsa-miR-3191	CLIP-seq
MIRT2243231	hsa-miR-3616-5p	CLIP-seq
MIRT2243232	hsa-miR-3647-5p	CLIP-seq
MIRT2243233	hsa-miR-3653	CLIP-seq
MIRT2243234	hsa-miR-376a	CLIP-seq
MIRT2243235	hsa-miR-376b	CLIP-seq
MIRT2243236	hsa-miR-4417	CLIP-seq
MIRT2243237	hsa-miR-4428	CLIP-seq
MIRT1048294	hsa-miR-4462	CLIP-seq
MIRT2243238	hsa-miR-4492	CLIP-seq
MIRT2243239	hsa-miR-4498	CLIP-seq
MIRT2243240	hsa-miR-4635	CLIP-seq
MIRT2243241	hsa-miR-4651	CLIP-seq
MIRT2243242	hsa-miR-4656	CLIP-seq
MIRT2243243	hsa-miR-4675	CLIP-seq
MIRT2243244	hsa-miR-4719	CLIP-seq
MIRT2243245	hsa-miR-4741	CLIP-seq
MIRT2243246	hsa-miR-4787-5p	CLIP-seq
MIRT2243247	hsa-miR-5047	CLIP-seq
MIRT2243248	hsa-miR-541	CLIP-seq
MIRT2243249	hsa-miR-548p	CLIP-seq
MIRT2243250	hsa-miR-573	CLIP-seq
MIRT2243251	hsa-miR-580	CLIP-seq
MIRT2243252	hsa-miR-589	CLIP-seq
MIRT2243253	hsa-miR-602	CLIP-seq
MIRT2243254	hsa-miR-608	CLIP-seq
MIRT2243255	hsa-miR-654-5p	CLIP-seq
MIRT2243256	hsa-miR-762	CLIP-seq
MIRT1556533	hsa-miR-23a	CLIP-seq
MIRT1556534	hsa-miR-23b	CLIP-seq
MIRT1556535	hsa-miR-23c	CLIP-seq
MIRT2010983	hsa-miR-2467-5p	CLIP-seq
MIRT1556536	hsa-miR-3146	CLIP-seq
MIRT1048291	hsa-miR-3151	CLIP-seq
MIRT1549529	hsa-miR-3166	CLIP-seq
MIRT2389011	hsa-miR-3185	CLIP-seq
MIRT1048292	hsa-miR-3191	CLIP-seq
MIRT2389012	hsa-miR-3611	CLIP-seq
MIRT2243231	hsa-miR-3616-5p	CLIP-seq
MIRT2243232	hsa-miR-3647-5p	CLIP-seq
MIRT1549530	hsa-miR-4311	CLIP-seq
MIRT2243240	hsa-miR-4635	CLIP-seq
MIRT1549531	hsa-miR-4708-5p	CLIP-seq
MIRT2243250	hsa-miR-573	CLIP-seq
MIRT2010987	hsa-miR-642b	CLIP-seq
MIRT2429616	hsa-miR-125a-3p	CLIP-seq
MIRT2010979	hsa-miR-181a	CLIP-seq
MIRT2010980	hsa-miR-181b	CLIP-seq
MIRT2010981	hsa-miR-181c	CLIP-seq
MIRT2010982	hsa-miR-181d	CLIP-seq
MIRT2429617	hsa-miR-298	CLIP-seq
MIRT2429618	hsa-miR-3121-5p	CLIP-seq
MIRT1048290	hsa-miR-3138	CLIP-seq
MIRT1048291	hsa-miR-3151	CLIP-seq
MIRT1048292	hsa-miR-3191	CLIP-seq
MIRT2429619	hsa-miR-3678-3p	CLIP-seq
MIRT2429620	hsa-miR-3934	CLIP-seq
MIRT2010984	hsa-miR-4262	CLIP-seq
MIRT1048294	hsa-miR-4462	CLIP-seq
MIRT2243241	hsa-miR-4651	CLIP-seq
MIRT2243246	hsa-miR-4787-5p	CLIP-seq
MIRT2243253	hsa-miR-602	CLIP-seq
MIRT2243254	hsa-miR-608	CLIP-seq
MIRT2010987	hsa-miR-642b	CLIP-seq
MIRT2429621	hsa-miR-764	CLIP-seq
MIRT2435125	hsa-miR-873	CLIP-seq
MIRT2429616	hsa-miR-125a-3p	CLIP-seq
MIRT2243228	hsa-miR-1587	CLIP-seq
MIRT2010979	hsa-miR-181a	CLIP-seq
MIRT2010980	hsa-miR-181b	CLIP-seq
MIRT2010981	hsa-miR-181c	CLIP-seq
MIRT2010982	hsa-miR-181d	CLIP-seq
MIRT1556533	hsa-miR-23a	CLIP-seq
MIRT1556534	hsa-miR-23b	CLIP-seq
MIRT1556535	hsa-miR-23c	CLIP-seq
MIRT2429617	hsa-miR-298	CLIP-seq
MIRT2429618	hsa-miR-3121-5p	CLIP-seq
MIRT1048290	hsa-miR-3138	CLIP-seq
MIRT1556536	hsa-miR-3146	CLIP-seq
MIRT1048291	hsa-miR-3151	CLIP-seq
MIRT1549529	hsa-miR-3166	CLIP-seq
MIRT1048292	hsa-miR-3191	CLIP-seq
MIRT2429619	hsa-miR-3678-3p	CLIP-seq
MIRT2429620	hsa-miR-3934	CLIP-seq
MIRT2010984	hsa-miR-4262	CLIP-seq
MIRT1549530	hsa-miR-4311	CLIP-seq
MIRT2243236	hsa-miR-4417	CLIP-seq
MIRT1048294	hsa-miR-4462	CLIP-seq
MIRT2243238	hsa-miR-4492	CLIP-seq
MIRT2243239	hsa-miR-4498	CLIP-seq
MIRT2243241	hsa-miR-4651	CLIP-seq
MIRT2243242	hsa-miR-4656	CLIP-seq
MIRT2243243	hsa-miR-4675	CLIP-seq
MIRT1549531	hsa-miR-4708-5p	CLIP-seq
MIRT2243245	hsa-miR-4741	CLIP-seq
MIRT2243246	hsa-miR-4787-5p	CLIP-seq
MIRT2243248	hsa-miR-541	CLIP-seq
MIRT2010985	hsa-miR-593	CLIP-seq
MIRT2243253	hsa-miR-602	CLIP-seq
MIRT2243254	hsa-miR-608	CLIP-seq
MIRT2010986	hsa-miR-626	CLIP-seq
MIRT2010987	hsa-miR-642b	CLIP-seq
MIRT2243255	hsa-miR-654-5p	CLIP-seq
MIRT2243256	hsa-miR-762	CLIP-seq
MIRT2429621	hsa-miR-764	CLIP-seq
MIRT2435125	hsa-miR-873	CLIP-seq
MIRT2429616	hsa-miR-125a-3p	CLIP-seq
MIRT2243228	hsa-miR-1587	CLIP-seq
MIRT2010979	hsa-miR-181a	CLIP-seq
MIRT2010980	hsa-miR-181b	CLIP-seq
MIRT2010981	hsa-miR-181c	CLIP-seq
MIRT2010982	hsa-miR-181d	CLIP-seq
MIRT1556533	hsa-miR-23a	CLIP-seq
MIRT1556534	hsa-miR-23b	CLIP-seq
MIRT1556535	hsa-miR-23c	CLIP-seq
MIRT2010983	hsa-miR-2467-5p	CLIP-seq
MIRT2429617	hsa-miR-298	CLIP-seq
MIRT2429618	hsa-miR-3121-5p	CLIP-seq
MIRT1556536	hsa-miR-3146	CLIP-seq
MIRT1549529	hsa-miR-3166	CLIP-seq
MIRT2429619	hsa-miR-3678-3p	CLIP-seq
MIRT2429620	hsa-miR-3934	CLIP-seq
MIRT2010984	hsa-miR-4262	CLIP-seq
MIRT1549530	hsa-miR-4311	CLIP-seq
MIRT2243236	hsa-miR-4417	CLIP-seq
MIRT1048294	hsa-miR-4462	CLIP-seq
MIRT2243238	hsa-miR-4492	CLIP-seq
MIRT2243239	hsa-miR-4498	CLIP-seq
MIRT2243241	hsa-miR-4651	CLIP-seq
MIRT2243242	hsa-miR-4656	CLIP-seq
MIRT2243243	hsa-miR-4675	CLIP-seq
MIRT1549531	hsa-miR-4708-5p	CLIP-seq
MIRT2243245	hsa-miR-4741	CLIP-seq
MIRT2243246	hsa-miR-4787-5p	CLIP-seq
MIRT2243248	hsa-miR-541	CLIP-seq
MIRT2010985	hsa-miR-593	CLIP-seq
MIRT2243253	hsa-miR-602	CLIP-seq
MIRT2243254	hsa-miR-608	CLIP-seq
MIRT2010986	hsa-miR-626	CLIP-seq
MIRT2010987	hsa-miR-642b	CLIP-seq
MIRT2243255	hsa-miR-654-5p	CLIP-seq
MIRT2243256	hsa-miR-762	CLIP-seq
MIRT2429621	hsa-miR-764	CLIP-seq
MIRT1048289	hsa-miR-1224-3p	CLIP-seq
MIRT2429616	hsa-miR-125a-3p	CLIP-seq
MIRT2243228	hsa-miR-1587	CLIP-seq
MIRT2010979	hsa-miR-181a	CLIP-seq
MIRT2010980	hsa-miR-181b	CLIP-seq
MIRT2010981	hsa-miR-181c	CLIP-seq
MIRT2010982	hsa-miR-181d	CLIP-seq
MIRT2429617	hsa-miR-298	CLIP-seq
MIRT2429618	hsa-miR-3121-5p	CLIP-seq
MIRT2429619	hsa-miR-3678-3p	CLIP-seq
MIRT2429620	hsa-miR-3934	CLIP-seq
MIRT2010984	hsa-miR-4262	CLIP-seq
MIRT1549530	hsa-miR-4311	CLIP-seq
MIRT2243236	hsa-miR-4417	CLIP-seq
MIRT2243238	hsa-miR-4492	CLIP-seq
MIRT2243239	hsa-miR-4498	CLIP-seq
MIRT2243241	hsa-miR-4651	CLIP-seq
MIRT2243242	hsa-miR-4656	CLIP-seq
MIRT2243243	hsa-miR-4675	CLIP-seq
MIRT1549531	hsa-miR-4708-5p	CLIP-seq
MIRT2243245	hsa-miR-4741	CLIP-seq
MIRT2243246	hsa-miR-4787-5p	CLIP-seq
MIRT2243248	hsa-miR-541	CLIP-seq
MIRT2010985	hsa-miR-593	CLIP-seq
MIRT2243254	hsa-miR-608	CLIP-seq
MIRT2010986	hsa-miR-626	CLIP-seq
MIRT2010987	hsa-miR-642b	CLIP-seq
MIRT2243255	hsa-miR-654-5p	CLIP-seq
MIRT2243256	hsa-miR-762	CLIP-seq
MIRT2429621	hsa-miR-764	CLIP-seq

Show/Hide all (4)

Transcription factor	Regulation	Reference
CIITA	Activation	11053628
HIVEP2	Unknown	1409593
MYC	Activation	8206526
MYCN	Unknown	8895520

Show/Hide all (51)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	TAS
GO:0001916	Process	Positive regulation of T cell mediated cytotoxicity	IBA
GO:0002250	Process	Adaptive immune response	IEA
GO:0002376	Process	Immune system process	IEA
GO:0002474	Process	Antigen processing and presentation of peptide antigen via MHC class I	IEA
GO:0002476	Process	Antigen processing and presentation of endogenous peptide antigen via MHC class Ib	IBA
GO:0002486	Process	Antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent	IBA
GO:0002486	Process	Antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent	IDA	22031944
GO:0005102	Function	Signaling receptor binding	IBA
GO:0005515	Function	Protein binding	IPI	12853576, 17056715, 18322206, 18624290, 19858347, 24018270, 27649529, 28546555, 28685972
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	12486241
GO:0005783	Component	Endoplasmic reticulum	IDA	20946353
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005794	Component	Golgi apparatus	IDA	20946353
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	NAS	1384166, 2708822, 2787363, 2843461
GO:0005886	Component	Plasma membrane	TAS
GO:0006955	Process	Immune response	IBA
GO:0006955	Process	Immune response	IEA
GO:0006955	Process	Immune response	NAS	1384166, 2708822, 2787363, 2843461
GO:0007165	Process	Signal transduction	IEA
GO:0009897	Component	External side of plasma membrane	IBA
GO:0009986	Component	Cell surface	IDA	9754572, 22031944
GO:0009986	Component	Cell surface	IEA
GO:0012507	Component	ER to Golgi transport vesicle membrane	IEA
GO:0012507	Component	ER to Golgi transport vesicle membrane	TAS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0019882	Process	Antigen processing and presentation	IEA
GO:0030667	Component	Secretory granule membrane	TAS
GO:0030670	Component	Phagocytic vesicle membrane	IEA
GO:0030670	Component	Phagocytic vesicle membrane	TAS
GO:0031901	Component	Early endosome membrane	IEA
GO:0031901	Component	Early endosome membrane	TAS
GO:0042605	Function	Peptide antigen binding	IBA
GO:0042605	Function	Peptide antigen binding	IDA	22031944
GO:0042612	Component	MHC class I protein complex	IDA	22031944
GO:0042612	Component	MHC class I protein complex	IEA
GO:0045087	Process	Innate immune response	IEA
GO:0045954	Process	Positive regulation of natural killer cell mediated cytotoxicity	IDA	12486241
GO:0045954	Process	Positive regulation of natural killer cell mediated cytotoxicity	IDA	12486241
GO:0046977	Function	TAP binding	IDA	8617941, 8805302
GO:0048018	Function	Receptor ligand activity	IDA	12486241
GO:0055038	Component	Recycling endosome membrane	IEA
GO:0055038	Component	Recycling endosome membrane	TAS
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0098553	Component	Lumenal side of endoplasmic reticulum membrane	IEA
GO:0098553	Component	Lumenal side of endoplasmic reticulum membrane	TAS

MIM	HGNC	e!Ensembl
142840	4933	ENSG00000204525

P10321

Protein name

HLA class I histocompatibility antigen, C alpha chain (HLA-C) (HLA-Cw) (Human leukocyte antigen C)

Protein function

Antigen-presenting major histocompatibility complex class I (MHCI) molecule with an important role in reproduction and antiviral immunity (PubMed:11172028, PubMed:20104487, PubMed:20439706, PubMed:20972337, PubMed:24091323, PubMed:28649982, PubM

PDB

1EFX , 1IM9 , 1QQD , 3BZF , 4NT6 , 5VGD , 5VGE , 5W67 , 5W69 , 5W6A , 6JTO , 6PA1 , 6PAG

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00129	MHC_I	25 → 203	Class I Histocompatibility antigen, domains alpha 1 and 2	Domain
PF07654	C1-set	211 → 290	Immunoglobulin C1-set domain	Domain
PF06623	MHC_I_C	338 → 365	MHC_I C-terminus	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. Highly expressed in fetal extravillous trophoblasts in the decidua basalis (at protein level). {ECO:0000269|PubMed:20972337}.

Sequence

MRVMAPRALLLLLSGGLALTETWACSHSMRYFDTAVSRPGRGEPRFISVGYVDDTQFVRF
DSDAASPRGEPRAPWVEQEGPEYWDRETQKYKRQAQADRVSLRNLRGYYNQSEDGSHTLQ
RMSGCDLGPDGRLLRGYDQSAYDGKDYIALNEDLRSWTAADTAAQITQRKLEAARAAEQL
RAYLEGTCVEWLRRYLENGKETLQRAEPPKTHVTHHPLSDHEATLRCWALGFYPAEITLT
WQRDGEDQTQDTELVETRPAGDGTFQKWAAVVVPSGQEQRYTCHMQHEGLQEPLTLSWEP
SSQPTIPIMGIVAGLAVLVVLAVLGAVVTAMMCRRKSSGGKGGSCSQAACSNSAQGSDES
LITCKA

Sequence length

366

Interactions

View interactions

	KEGG		Reactome
	Endocytosis Phagosome Cellular senescence Cell adhesion molecules Antigen processing and presentation Natural killer cell mediated cytotoxicity Type I diabetes mellitus Human cytomegalovirus infection Human papillomavirus infection Human T-cell leukemia virus 1 infection Kaposi sarcoma-associated herpesvirus infection Herpes simplex virus 1 infection Epstein-Barr virus infection Human immunodeficiency virus 1 infection Viral carcinogenesis Autoimmune thyroid disease Allograft rejection Graft-versus-host disease Viral myocarditis		ER-Phagosome pathway Endosomal/Vacuolar pathway Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell DAP12 interactions Neutrophil degranulation Interferon gamma signaling Interferon alpha/beta signaling Antigen Presentation: Folding, assembly and peptide loading of class I MHC

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	rs758822953	RCV004560306
HIV-1 VIREMIA, SUSCEPTIBILITY TO	risk factor	rs9264942	RCV000016036

HLA-C (major histocompatibility complex, class I, C)