• Gene id: 3107

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 antig,
• 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
• 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  IPR036179  IPR013783  IPR003597  IPR011161   IPR037055  IPR011162  IPR001039  IPR010579  
  • Prosite: PS50835
  • PDB: 3BZF 5VGE
  • PDBsum: 3BZF 5VGE
  • 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 presentation of peptide antigen via MHC class I	TAS	biological process
GO:0002479	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent	TAS	biological process
GO:0002480	antigen processing and presentation of exogenous peptide antigen via MHC class 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 vesicle membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0016032	viral process	IEA	biological process
GO:0030670	phagocytic vesicle membrane	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 complex	ISS	cellular component
GO:0050776	regulation of immune response	TAS	biological process
GO:0060333	interferon-gamma-mediated signaling pathway	TAS	biological process
GO:0060337	type I interferon signaling pathway	TAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal 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 presentation of peptide antigen via MHC class I	IEA	biological process
GO:0002474	antigen processing and presentation of peptide antigen via MHC class I	IEA	biological process
GO:0002474	antigen processing and presentation of peptide antigen via MHC class I	TAS	biological process
GO:0002479	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent	TAS	biological process
GO:0002480	antigen processing and presentation of exogenous peptide antigen via MHC class 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 vesicle membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0019882	antigen processing and presentation	IEA	biological process
GO:0030670	phagocytic vesicle membrane	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 complex	IEA	cellular component
GO:0042612	MHC class I protein complex	ISS	cellular component
GO:0042612	MHC class I protein complex	IEA	cellular component
GO:0050776	regulation of immune response	TAS	biological process
GO:0060333	interferon-gamma-mediated signaling pathway	TAS	biological process
GO:0060337	type I interferon signaling pathway	TAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal 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 presentation of peptide antigen via MHC class I	TAS	biological process
GO:0002479	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent	TAS	biological process
GO:0002480	antigen processing and presentation of exogenous peptide antigen via MHC class 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 vesicle membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0030670	phagocytic vesicle membrane	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 complex	ISS	cellular component
GO:0050776	regulation of immune response	TAS	biological process
GO:0060333	interferon-gamma-mediated signaling pathway	TAS	biological process
GO:0060337	type I interferon signaling pathway	TAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa00565	Ether lipid metabolism
hsa00590	Arachidonic acid metabolism
hsa00590	Arachidonic acid metabolism
hsa00270	Cysteine and methionine metabolism
hsa00510	N-Glycan biosynthesis
hsa00531	Glycosaminoglycan degradation
hsa03420	Nucleotide excision repair
hsa04015	Rap1 signaling pathway
hsa04010	MAPK signaling pathway
hsa04010	MAPK signaling pathway
hsa04010	MAPK signaling pathway
hsa04010	MAPK signaling pathway
hsa04340	Hedgehog signaling pathway
hsa04350	TGF-beta signaling pathway
hsa04390	Hippo signaling pathway
hsa04370	VEGF signaling pathway
hsa04371	Apelin signaling pathway
hsa04371	Apelin signaling pathway
hsa04630	JAK-STAT signaling pathway
hsa04514	Cell adhesion molecules
hsa04144	Endocytosis
hsa04145	Phagosome
hsa04218	Cellular senescence
hsa04650	Natural killer cell mediated cytotoxicity
hsa04612	Antigen processing and presentation
hsa05203	Viral carcinogenesis
hsa05320	Autoimmune thyroid disease
hsa05330	Allograft rejection
hsa05332	Graft-versus-host disease
hsa05416	Viral myocarditis
hsa04940	Type I diabetes mellitus
hsa05166	Human T-cell leukemia virus 1 infection
hsa05170	Human immunodeficiency virus 1 infection
hsa05168	Herpes simplex virus 1 infection
hsa05163	Human cytomegalovirus infection
hsa05167	Kaposi sarcoma-associated herpesvirus infection
hsa05169	Epstein-Barr virus infection
hsa05165	Human papillomavirus infection

Diseases

Associated diseases	References
Cancer	GAD: 12870022
Cancer (B-Cell lymphomas)	GAD: 17311253
Cancer (brain)	GAD: 19487887
Cancer (breast)	GAD: 19196481
Cancer (cervical)	GAD: 18451182
Cancer (esophageal)	GAD: 20334121
Cancer (glioblastoma)	GAD: 16103458
Cancer (head and neck)	GAD: 16857416
Cancer (Hematologic)	GAD: 18347914
Cancer (Hepatocellular)	GAD: 19326408
Cancer (leukemia)	GAD: 12870022
Cancer (lung)	GAD: 19246116
Cancer (lymphoma)	GAD: 15361135
Cancer (melanoma)	GAD: 16365741
Cancer (nasopharyngeal)	GAD: 17480220
Cancer (Neuroblastoma)	GAD: 19934297
Cancer (ovarian)	GAD: 17661908
Cancer (Papilary)	GAD: 19242058
Cancer (Squamous cell)	GAD: 12195346
Cancer (thyroid)	GAD: 14716759
Cardiovascular disease	GAD: 17578051
Uveitis	GAD: 16019679
Chorioretinitis	GAD: 18340360
Eye diseases	GAD: 18385790
AHG deficiency disease	GAD: 20536993
Beta-thalassemia	GAD: 17950922
Hemophilia	GAD: 18958335
Sarcoidosis	GAD: 16362110
Mucocutaneous lymph node syndrome	GAD: 18064508
Alopecia areata	GAD: 17062033
Alveolitis	GAD: 16362107
Ankylosing spondylitis	GAD: 17523949
Arthritis	GAD: 12022360
Asthma	GAD: 14674935
Atopy	GAD: 16788244
Autoimmune diseases	GAD: 20082482
Axial spondyloarthropathy	GAD: 19850842
Behcet's disease	GAD: 18627572
Behcet's disease	GAD: 12372094
Sjogren's syndrome	GAD: 12648281
Ulcerative colitis	GAD: 16929347
Multiple sclerosis	GAD: 17252545
Periodontitis	GAD: 12296785
Psoriasis	GAD: 16339849
Psoriatic arthritis	GAD: 19184033
Psoriatic arthritis	GAD: 15639927
Psoriatic arthritis	GAD: 17530646
Scleroderma	GAD: 20082621
Systemic lupus erythematosus (SLE)	GAD: 19851445
Psoriasis	OMIM: 142840
Celiac disease	GAD: 11181188
Chronic ulcerative colitis	GAD: 15307871
Hypersensitivity	GAD: 15743917
Obesity	GAD: 18585007
Diabetes	GAD: 12472657
Osteoporosis	GAD: 17498269
Spondylarthropathies	GAD: 16720212
Rheumatic diseases	GAD: 19407364
Paraparesis	GAD: 11120862
Uveomeningoencephalitic syndrome	GAD: 18571006
Myasthenia gravis	GAD: 11574100
Arthrofibrosis	GAD: 15122136
Autism	GAD: 21084121
Schizophrenia	GAD: 19571811
Chronic renal failure	GAD: 14700599
Abortion	GAD: 20210919
Recurrent pregnancy loss (RPL)	GAD: 15304010
Recurrent pregnancy loss (RPL)	GAD: 15304010
Endometriosis	INFBASE: 12571436
Female infertility	INFBASE: 6594014
Fetal loss	INFBASE: 9512225
Primary ovarian insufficiency (POI)	INFBASE: 21811055
Unexplained infertility	MIK: 6222922
Keloids	GAD: 19932885
Pityriasis rosea	GAD: 16405603
Vitiligo	GAD: 16922942
Epidermal Necrolysis	GAD: 19668019
Pemphigus vulgaris	GAD: 11841366
Urticaria	GAD: 20559009
Hemoglobinuria	GAD: 18396213
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 6222922

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
6222922	Unexplained infertility			14 couples with unexplained infertility	Male infertility, Female infertility	HLA-C
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)