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Gene id

3106

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

HLA-B Gene UCSC Ensembl

Aliases

AS, B-4901, HLAB

Gene name

major histocompatibility complex, class I, B

Alternate names

major histocompatibility complex, class I, B, HLA class I antigen HLA-B, HLA class I histocompatibility antigen, B alpha chain, MHC HLA-B cell surface glycoprotein, MHC HLA-B transmembrane glycoprotein, MHC class 1 antigen, MHC class I antigen HLA-B alpha chain,

Gene location

6p21.33 (31357244: 31353865) Exons: 8 NC_000006.12

Gene summary(Entrez)

HLA-B 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 the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, 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. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]

OMIM

142830

Protein Summary

Protein general information

P01889

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

Length: 362 Mass: 40,460

Sequence

MLVMAPRTVLLLLSAALALTETWAGSHSMRYFYTSVSRPGRGEPRFISVGYVDDTQFVRFDSDAASPREEPRAPW
IEQEGPEYWDRNTQIYKAQAQTDRESLRNLRGYYNQSEAGSHTLQSMYGCDVGPDGRLLRGHDQYAYDGKDYIAL
NEDLRSWTAADTAAQITQRKWEAAREAEQRRAYLEGECVEWLRRYLENGKDKLERADPPKTHVTHHPISDHEATL
RCWALGFYPAEITLTWQRDGEDQTQDTELVETRPAGDRTFQKWAAVVVPSGEEQRYTCHVQHEGLPKPLTLRWEP
SSQSTVPIVGIVAGLAVLAVVVIGAVVAAVMCRRKSSGGKGGSYSQAACSDSAQGSDVSLTA

Structural information

Protein Domains	Ig-like (209-295)
Interpro:	IPR007110 IPR013783 IPR003006 IPR003597 IPR011161 IPR011162 IPR001039 IPR010579
Prosite:	PS50835 PS00290
Pfam:	PF07654 PF00129 PF06623
PDB:	3VCL 4U1H 4U1K 5EO0 5EO1
PDBsum:	3VCL 4U1H 4U1K 5EO0 5EO1
STRING:	ENSP00000399168;

Other Databases

GeneCards: HLA-B; Malacards: HLA-B

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:0002667	regulation of T cell aner gy	IMP	biological_process
GO:0005102	receptor binding	IPI	molecular_function
GO:0005102	receptor binding	IPI	molecular_function
GO:0005783	endoplasmic reticulum	IDA	cellular_component
GO:0005794	Golgi apparatus	IDA	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:0005887	integral component of pla sma membrane	NAS	cellular_component
GO:0006955	immune response	NAS	biological_process
GO:0009986	cell surface	ISS	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	IDA	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:0032655	regulation of interleukin -12 production	IMP	biological_process
GO:0032675	regulation of interleukin -6 production	IMP	biological_process
GO:0042270	protection from natural k iller cell mediated cytot oxicity	IDA	biological_process
GO:0042270	protection from natural k iller cell mediated cytot oxicity	IDA	biological_process
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:0070062	extracellular exosome	IDA	cellular_component
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:2001198	regulation of dendritic c ell differentiation	IMP	biological_process
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:0002667	regulation of T cell aner gy	IMP	biological_process
GO:0005102	receptor binding	IPI	molecular_function
GO:0005102	receptor binding	IPI	molecular_function
GO:0005783	endoplasmic reticulum	IDA	cellular_component
GO:0005794	Golgi apparatus	IDA	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:0005887	integral component of pla sma membrane	NAS	cellular_component
GO:0006955	immune response	IEA	biological_process
GO:0006955	immune response	NAS	biological_process
GO:0009986	cell surface	ISS	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:0016020	membrane	IDA	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:0032655	regulation of interleukin -12 production	IMP	biological_process
GO:0032675	regulation of interleukin -6 production	IMP	biological_process
GO:0042270	protection from natural k iller cell mediated cytot oxicity	IDA	biological_process
GO:0042270	protection from natural k iller cell mediated cytot oxicity	IDA	biological_process
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:0070062	extracellular exosome	IDA	cellular_component
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:2001198	regulation of dendritic c ell differentiation	IMP	biological_process
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:0002667	regulation of T cell aner gy	IMP	biological_process
GO:0005102	receptor binding	IPI	molecular_function
GO:0005102	receptor binding	IPI	molecular_function
GO:0005783	endoplasmic reticulum	IDA	cellular_component
GO:0005794	Golgi apparatus	IDA	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:0005887	integral component of pla sma membrane	NAS	cellular_component
GO:0006955	immune response	NAS	biological_process
GO:0009986	cell surface	ISS	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	IDA	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:0032655	regulation of interleukin -12 production	IMP	biological_process
GO:0032675	regulation of interleukin -6 production	IMP	biological_process
GO:0042270	protection from natural k iller cell mediated cytot oxicity	IDA	biological_process
GO:0042270	protection from natural k iller cell mediated cytot oxicity	IDA	biological_process
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:0070062	extracellular exosome	IDA	cellular_component
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:2001198	regulation of dendritic c ell differentiation	IMP	biological_process

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
Acute anterior uveitis	PMID: 9501876
Adrenal hyperplasia	PMID: 19201236
Alopecia areata	PMID: 16185849
Alveolitis	PMID: 16362107
Anemia	PMID: 18689790
Ankylosing spondylitis	PMID: 12476735
Arthritis	PMID: 11229461
Arthrofibrosis	PMID: 15122136
Asthma	PMID: 15853903
Atopic dermatitis	PMID: 11737038
Autoimmune diseases	PMID: 18657583
Azoospermia	PMID: 3162459
Behcet's disease	KEGG: H01476
Biliary atresia	PMID: 12100571
Biliary primary cirrhosis	PMID: 15975271
Bipolar disorder	PMID: 21254220
Cancer	PMID: 19925877
Celiac disease	PMID: 15496201
Chinese ankylosing spondylitis patients	PMID: 2576476
Cholangitis	PMID: 14567462
Crohn's disease	PMID: 14530653
Dermatomyositis	PMID: 17586554
Diabetes	PMID: 19458622
Diffuse panbronchiolitis	KEGG: H01713
Endometriosis	PMID: 6594014
Endometriosis	PMID: 12571436
Epidermal necrolysis	PMID: 19018717
Epidermal necrolysis	PMID: 19668019
Eye diseases	PMID: 18385790
Glomerulonephritis	PMID: 19674013
Gonadal dysgenesis	PMID: 7834897
Graves disease	PMID: 2567295
Hemoglobinuria	PMID: 18396213
Hemophilia A	PMID: 18958335
Hypersensitivity	PMID: 18684101
Hypothyroidism	PMID: 15236755
Idiopathic azoospermia	PMID: 9598492
Macular degeneration	PMID: 19728932
Male infertility	PMID: 6600688
Multiple sclerosis	PMID: 19879194
Myasthenia gravis	PMID: 9817446
Myositis	PMID: 14648147
Nephrosis	PMID: 18949728
Neuropathy	PMID: 16053028
Osteoporosis	PMID: 17498269
Panbonchiolitis	PMID: 18846964
Pancreatitis	PMID: 11984513
Periodontitis	PMID: 12296785
Polycystic ovary syndrome (PCOS)	PMID: 21851420
Endometriosis	INFBASE18458507
Primary sclerosing cholangitis	PMID: 6600227
Primary ovarian insufficiency (POI)	PMID: 21811055
Psoriasis	PMID: 15853898
Pulmonary hypertension	PMID: 15640334
Recurrent implantation failure (RIF)	PMID: 25367742
Recurrent pregnancy loss (RPL)/ Abortion/ Miscarriage/ Recurrent pregnancy failure/Pregnancy loss/ Recurrent miscarriage/ Spontaneous abortion	PMID: 3252654
Recurrent pregnancy loss (RPL)/ Abortion/ Miscarriage/ Recurrent pregnancy failure/Pregnancy loss/ Recurrent miscarriage/ Spontaneous abortion	PMID: 4071526
Rheumatic diseases	PMID: 19407364
Sarcoidosis	PMID: 16362110
Seronegative arthritis	KEGG: H01507
Sjogren's syndrome	PMID: 19181658
Spermatogenetic defects	PMID: 2609327
Spondylitis	PMID: 18424159
Spondyloarthropathies	OMIM: 142830
Stevens-Johnson syndrome	KEGG: H01694, OMIM: 142830
Stomatitis	PMID: 19046300
Synovitis	OMIM: 142830
Systemic lupus erythematosus	PMID: 16029431
Trachoma	PMID: 18824733
Turner Syndrome(TS)	PMID: 8082315
Ulcerative colitis	PMID: 19493234
Unexplained infertility	PMID: 10668156
Urticaria	PMID: 18520158
Uveomeningo encephalitic syndrome	PMID: 18571006
Vitiligo	PMID: 16922942

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
18458507	Endometrio sis		Korean	250 (50 advance d endometriosis , 200 unrelated ethnically mat ched individual s)		HLA-A HLA-B	Show abstract
12571436	Endometrio sis		Japanes e	55 patients dia gnosed with end ometriosis		HLA-B 54 HLA-Cw7	Show abstract