Endometriosis Knowledgebase

Search Result

Gene id

3107

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

HLA-C Gene UCSC Ensembl

Aliases

D6S204, HLA-JY3, HLAC, HLC-C, MHC, PSORS1

Gene name

major histocompatibility complex, class I, C

Alternate names

HLA class I histocompatibility antigen, Cw-1 alpha chain, HLA class I histocompatibility antigen, C alpha chain, HLA-C alpha chain, HLA-C antigen, MHC class I antigen heavy chain HLA-C, human leukocyte antigen-C alpha chain, major histocompatibility antigen HLA,

Gene location

6p21.33 (31272135: 31268748) Exons: 8 NC_000006.12

Gene summary(Entrez)

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]

OMIM

142840

Protein Summary

Protein general information

P10321

Name: HLA class I histocompatibility antigen, Cw 7 alpha chain (MHC class I antigen Cw*7)

Length: 366 Mass: 40,649

Sequence

MRVMAPRALLLLLSGGLALTETWACSHSMRYFDTAVSRPGRGEPRFISVGYVDDTQFVRFDSDAASPRGEPRAPW
VEQEGPEYWDRETQKYKRQAQADRVSLRNLRGYYNQSEDGSHTLQRMSGCDLGPDGRLLRGYDQSAYDGKDYIAL
NEDLRSWTAADTAAQITQRKLEAARAAEQLRAYLEGTCVEWLRRYLENGKETLQRAEPPKTHVTHHPLSDHEATL
RCWALGFYPAEITLTWQRDGEDQTQDTELVETRPAGDGTFQKWAAVVVPSGQEQRYTCHMQHEGLQEPLTLSWEP
SSQPTIPIMGIVAGLAVLVVLAVLGAVVTAMMCRRKSSGGKGGSCSQAACSNSAQGSDESLITCKA

Structural information

Protein Domains	Ig-like (209-297)
Interpro:	IPR007110 IPR013783 IPR003597 IPR011161 IPR011162 IPR001039 IPR010579
Prosite:	PS50835
Pfam:	PF07654 PF00129 PF06623
PDB:	3BZF
PDBsum:	3BZF
STRING:	ENSP00000365402;

Other Databases

GeneCards: HLA-C; Malacards: HLA-C

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000139	Golgi membrane	TAS	cellular_component
GO:0000139	Golgi membrane	TAS	cellular_component
GO:0002474	antigen processing and pr esentation of peptide ant igen via MHC class I	TAS	biological_process
GO:0002479	antigen processing and pr esentation of exogenous p eptide antigen via MHC cl ass I, TAP-dependent	TAS	biological_process
GO:0002480	antigen processing and pr esentation of exogenous p eptide antigen via MHC cl ass I, TAP-independent	TAS	biological_process
GO:0005783	endoplasmic reticulum	ISS	cellular_component
GO:0005794	Golgi apparatus	ISS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0009986	cell surface	IDA	cellular_component
GO:0012507	ER to Golgi transport ves icle membrane	TAS	cellular_component
GO:0012507	ER to Golgi transport ves icle membrane	TAS	cellular_component
GO:0012507	ER to Golgi transport ves icle membrane	TAS	cellular_component
GO:0016032	viral process	IEA	biological_process
GO:0030670	phagocytic vesicle membra ne	TAS	cellular_component
GO:0031901	early endosome membrane	TAS	cellular_component
GO:0031901	early endosome membrane	TAS	cellular_component
GO:0031901	early endosome membrane	TAS	cellular_component
GO:0042605	peptide antigen binding	ISS	molecular_function
GO:0042612	MHC class I protein compl ex	ISS	cellular_component
GO:0050776	regulation of immune resp onse	TAS	biological_process
GO:0060333	interferon-gamma-mediated signaling pathway	TAS	biological_process
GO:0060337	type I interferon signali ng pathway	TAS	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0071556	integral component of lum enal side of endoplasmic reticulum membrane	TAS	cellular_component
GO:0071556	integral component of lum enal side of endoplasmic reticulum membrane	TAS	cellular_component
GO:0071556	integral component of lum enal side of endoplasmic reticulum membrane	TAS	cellular_component
GO:0071556	integral component of lum enal side of endoplasmic reticulum membrane	TAS	cellular_component
GO:0071556	integral component of lum enal side of endoplasmic reticulum membrane	TAS	cellular_component
GO:0071556	integral component of lum enal side of endoplasmic reticulum membrane	TAS	cellular_component
GO:0071556	integral component of lum enal side of endoplasmic reticulum membrane	TAS	cellular_component
GO:0071556	integral component of lum enal side of endoplasmic reticulum membrane	TAS	cellular_component
GO:0071556	integral component of lum enal side of endoplasmic reticulum membrane	TAS	cellular_component
GO:0071556	integral component of lum enal side of endoplasmic reticulum membrane	TAS	cellular_component
GO:0000139	Golgi membrane	TAS	cellular_component
GO:0000139	Golgi membrane	TAS	cellular_component
GO:0002376	immune system process	IEA	biological_process
GO:0002474	antigen processing and pr esentation of peptide ant igen via MHC class I	IEA	biological_process
GO:0002474	antigen processing and pr esentation of peptide ant igen via MHC class I	IEA	biological_process
GO:0002474	antigen processing and pr esentation of peptide ant igen via MHC class I	TAS	biological_process
GO:0002479	antigen processing and pr esentation of exogenous p eptide antigen via MHC cl ass I, TAP-dependent	TAS	biological_process
GO:0002480	antigen processing and pr esentation of exogenous p eptide antigen via MHC cl ass I, TAP-independent	TAS	biological_process
GO:0005783	endoplasmic reticulum	ISS	cellular_component
GO:0005794	Golgi apparatus	ISS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0006955	immune response	IEA	biological_process
GO:0009986	cell surface	IDA	cellular_component
GO:0012507	ER to Golgi transport ves icle membrane	TAS	cellular_component
GO:0012507	ER to Golgi transport ves icle membrane	TAS	cellular_component
GO:0012507	ER to Golgi transport ves icle membrane	TAS	cellular_component
GO:0016020	membrane	IEA	cellular_component
GO:0016020	membrane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0016032	viral process	IEA	biological_process
GO:0019882	antigen processing and pr esentation	IEA	biological_process
GO:0030670	phagocytic vesicle membra ne	TAS	cellular_component
GO:0031901	early endosome membrane	TAS	cellular_component
GO:0031901	early endosome membrane	TAS	cellular_component
GO:0031901	early endosome membrane	TAS	cellular_component
GO:0042605	peptide antigen binding	IEA	molecular_function
GO:0042605	peptide antigen binding	ISS	molecular_function
GO:0042612	MHC class I protein compl ex	IEA	cellular_component
GO:0042612	MHC class I protein compl ex	ISS	cellular_component
GO:0042612	MHC class I protein compl ex	IEA	cellular_component
GO:0050776	regulation of immune resp onse	TAS	biological_process
GO:0060333	interferon-gamma-mediated signaling pathway	TAS	biological_process
GO:0060337	type I interferon signali ng pathway	TAS	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0071556	integral component of lum enal side of endoplasmic reticulum membrane	TAS	cellular_component
GO:0071556	integral component of lum enal side of endoplasmic reticulum membrane	TAS	cellular_component
GO:0071556	integral component of lum enal side of endoplasmic reticulum membrane	TAS	cellular_component
GO:0071556	integral component of lum enal side of endoplasmic reticulum membrane	TAS	cellular_component
GO:0071556	integral component of lum enal side of endoplasmic reticulum membrane	TAS	cellular_component
GO:0071556	integral component of lum enal side of endoplasmic reticulum membrane	TAS	cellular_component
GO:0071556	integral component of lum enal side of endoplasmic reticulum membrane	TAS	cellular_component
GO:0071556	integral component of lum enal side of endoplasmic reticulum membrane	TAS	cellular_component
GO:0071556	integral component of lum enal side of endoplasmic reticulum membrane	TAS	cellular_component
GO:0071556	integral component of lum enal side of endoplasmic reticulum membrane	TAS	cellular_component
GO:0000139	Golgi membrane	TAS	cellular_component
GO:0000139	Golgi membrane	TAS	cellular_component
GO:0002474	antigen processing and pr esentation of peptide ant igen via MHC class I	TAS	biological_process
GO:0002479	antigen processing and pr esentation of exogenous p eptide antigen via MHC cl ass I, TAP-dependent	TAS	biological_process
GO:0002480	antigen processing and pr esentation of exogenous p eptide antigen via MHC cl ass I, TAP-independent	TAS	biological_process
GO:0005783	endoplasmic reticulum	ISS	cellular_component
GO:0005794	Golgi apparatus	ISS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0009986	cell surface	IDA	cellular_component
GO:0012507	ER to Golgi transport ves icle membrane	TAS	cellular_component
GO:0012507	ER to Golgi transport ves icle membrane	TAS	cellular_component
GO:0012507	ER to Golgi transport ves icle membrane	TAS	cellular_component
GO:0030670	phagocytic vesicle membra ne	TAS	cellular_component
GO:0031901	early endosome membrane	TAS	cellular_component
GO:0031901	early endosome membrane	TAS	cellular_component
GO:0031901	early endosome membrane	TAS	cellular_component
GO:0042605	peptide antigen binding	ISS	molecular_function
GO:0042612	MHC class I protein compl ex	ISS	cellular_component
GO:0050776	regulation of immune resp onse	TAS	biological_process
GO:0060333	interferon-gamma-mediated signaling pathway	TAS	biological_process
GO:0060337	type I interferon signali ng pathway	TAS	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0071556	integral component of lum enal side of endoplasmic reticulum membrane	TAS	cellular_component
GO:0071556	integral component of lum enal side of endoplasmic reticulum membrane	TAS	cellular_component
GO:0071556	integral component of lum enal side of endoplasmic reticulum membrane	TAS	cellular_component
GO:0071556	integral component of lum enal side of endoplasmic reticulum membrane	TAS	cellular_component
GO:0071556	integral component of lum enal side of endoplasmic reticulum membrane	TAS	cellular_component
GO:0071556	integral component of lum enal side of endoplasmic reticulum membrane	TAS	cellular_component
GO:0071556	integral component of lum enal side of endoplasmic reticulum membrane	TAS	cellular_component
GO:0071556	integral component of lum enal side of endoplasmic reticulum membrane	TAS	cellular_component
GO:0071556	integral component of lum enal side of endoplasmic reticulum membrane	TAS	cellular_component
GO:0071556	integral component of lum enal side of endoplasmic reticulum membrane	TAS	cellular_component

KEGG pathways

hsa05166  HTLV-I infection
hsa05167  Kaposi's sarcoma-associated herpesvirus infection
hsa05168  Herpes simplex infection
hsa05169  Epstein-Barr virus infection
hsa05203  Viral carcinogenesis
hsa04144  Endocytosis
hsa04514  Cell adhesion molecules
hsa04650  Natural killer cell mediated cytotoxicity
hsa04145  Phagosome
hsa04612  Antigen processing and presentation
hsa05332  Graft-versus-host disease
hsa05320  Autoimmune thyroid disease
hsa05416  Viral myocarditis
hsa05330  Allograft rejection
hsa04940  Type I diabetes mellitus

Diseases

Associated diseases	References
Alopecia areata	PMID: 17062033
Alveolitis	PMID: 16362107
Ankylosing spondylitis	PMID: 17523949
Arthrofibrosis	PMID: 15122136
Asthma	PMID: 14674935
Atopy	PMID: 16788244
Axial spondyloarthropathy	PMID: 19850842
Behcet's disease	PMID: 12372094
Bipolar disorder	PMID: 19571811
Cancer	PMID: 12870022
Celiac disease	PMID: 11181188
Chorioretinitis	PMID: 18340360
Diabetes	PMID: 18486765
Endometriosis	PMID: 6594014
Epidermal necrolysis	PMID: 19668019
Eye diseases	PMID: 18385790
Fetal loss	PMID: 9512225
Fibrosis	PMID: 18671674
Hemoglobinuria	PMID: 18396213
Hemophilia A	PMID: 18958335
Multiple sclerosis	PMID: 17252545
Obesity	PMID: 18585007
Osteoporosis	PMID: 17498269
Pancreatitis	PMID: 11984513
Pemphigus	PMID: 11841366
Periodontitis	PMID: 12941076
Pityriasis rosea	PMID: 16405603
Endometriosis	INFBASE12571436
Psoriasis	OMIM: 142840
Recurrent miscarriage	PMID: 15304010
Rheumatic diseases	PMID: 19407364
Rheumatic heart disease	PMID: 17578051
Sarcoidosis	PMID: 16362110
Sjogren's syndrome	PMID: 12648281
Spondyloarthropathies	PMID: 16720212
Systemic lupus erythematosus	PMID: 15535834
Ulcerative colitis	PMID: 16929347
Unexplained infertility	PMID: 6222922
Uveitis	PMID: 16019679
Uveomeningo encephalitic syndrome	PMID: 18571006
Vitiligo	PMID: 16922942

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
12571436	Endometrio sis		Japanes e	55 patients dia gnosed with end ometriosis		HLA-B 54 HLA-Cw7	Show abstract