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Gene id

3105

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

HLA-A Gene UCSC Ensembl

Aliases

HLAA

Gene name

major histocompatibility complex, class I, A

Alternate names

HLA class I histocompatibility antigen, A-1 alpha chain, MHC class I antigen HLA-A heavy chain, leukocyte antigen class I-A,

Gene location

6p22.1 (29942469: 29945883) Exons: 8 NC_000006.12

Gene summary(Entrez)

HLA-A 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, exons 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-A alleles have been described. [provided by RefSeq, Jul 2008]

OMIM

142800

Protein Summary

Protein general information

P04439

Name: HLA class I histocompatibility antigen, A 3 alpha chain (MHC class I antigen A*3)

Length: 365 Mass: 40,841

Sequence

MAVMAPRTLLLLLSGALALTQTWAGSHSMRYFFTSVSRPGRGEPRFIAVGYVDDTQFVRFDSDAASQRMEPRAPW
IEQEGPEYWDQETRNVKAQSQTDRVDLGTLRGYYNQSEAGSHTIQIMYGCDVGSDGRFLRGYRQDAYDGKDYIAL
NEDLRSWTAADMAAQITKRKWEAAHEAEQLRAYLDGTCVEWLRRYLENGKETLQRTDPPKTHMTHHPISDHEATL
RCWALGFYPAEITLTWQRDGEDQTQDTELVETRPAGDGTFQKWAAVVVPSGEEQRYTCHVQHEGLPKPLTLRWEL
SSQPTIPIVGIIAGLVLLGAVITGAVVAAVMWRRKSSDRKGGSYTQAASSDSAQGSDVSLTACKV

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:	2XPG 3RL1 3RL2
PDBsum:	2XPG 3RL1 3RL2
STRING:	ENSP00000366005;

Other Databases

GeneCards: HLA-A; Malacards: HLA-A

Protein general information

P30443

Name: HLA class I histocompatibility antigen, A 1 alpha chain (MHC class I antigen A*1)

Length: 365 Mass: 40,846

Sequence

MAVMAPRTLLLLLSGALALTQTWAGSHSMRYFFTSVSRPGRGEPRFIAVGYVDDTQFVRFDSDAASQKMEPRAPW
IEQEGPEYWDQETRNMKAHSQTDRANLGTLRGYYNQSEDGSHTIQIMYGCDVGPDGRFLRGYRQDAYDGKDYIAL
NEDLRSWTAADMAAQITKRKWEAVHAAEQRRVYLEGRCVDGLRRYLENGKETLQRTDPPKTHMTHHPISDHEATL
RCWALGFYPAEITLTWQRDGEDQTQDTELVETRPAGDGTFQKWAAVVVPSGEEQRYTCHVQHEGLPKPLTLRWEL
SSQPTIPIVGIIAGLVLLGAVITGAVVAAVMWRRKSSDRKGGSYTQAASSDSAQGSDVSLTACKV

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:	1W72 3BO8 4NQV 4NQX 5BRZ 5BS0
PDBsum:	1W72 3BO8 4NQV 4NQX 5BRZ 5BS0
MINT:	4655826
STRING:	ENSP00000366005;

Other Databases

GeneCards: HLA-A; Malacards: HLA-A

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:0001916	positive regulation of T cell mediated cytotoxicit y	IDA	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:0005887	integral component of pla sma membrane	NAS	cellular_component
GO:0006955	immune response	IMP	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	IDA	cellular_component
GO:0016032	viral process	IEA	biological_process
GO:0016045	detection of bacterium	IMP	biological_process
GO:0030670	phagocytic vesicle membra ne	TAS	cellular_component
GO:0030881	beta-2-microglobulin bind ing	ISS	molecular_function
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:0046977	TAP binding	IDA	molecular_function
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:0001916	positive regulation of T cell mediated cytotoxicit y	IDA	biological_process
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:0005887	integral component of pla sma membrane	NAS	cellular_component
GO:0006955	immune response	IEA	biological_process
GO:0006955	immune response	IMP	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:0016045	detection of bacterium	IMP	biological_process
GO:0019882	antigen processing and pr esentation	IEA	biological_process
GO:0030670	phagocytic vesicle membra ne	TAS	cellular_component
GO:0030881	beta-2-microglobulin bind ing	ISS	molecular_function
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:0046977	TAP binding	IDA	molecular_function
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:0001916	positive regulation of T cell mediated cytotoxicit y	IDA	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:0005887	integral component of pla sma membrane	NAS	cellular_component
GO:0006955	immune response	IMP	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	IDA	cellular_component
GO:0016045	detection of bacterium	IMP	biological_process
GO:0030670	phagocytic vesicle membra ne	TAS	cellular_component
GO:0030881	beta-2-microglobulin bind ing	ISS	molecular_function
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:0046977	TAP binding	IDA	molecular_function
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: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:0030881	beta-2-microglobulin bind ing	ISS	molecular_function
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:0046977	TAP binding	IDA	molecular_function
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: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: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:0030881	beta-2-microglobulin bind ing	ISS	molecular_function
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:0046977	TAP binding	IDA	molecular_function
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: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: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:0030881	beta-2-microglobulin bind ing	ISS	molecular_function
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:0046977	TAP binding	IDA	molecular_function
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: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
Alzheimer's disease	PMID: 9270587
Anemia	PMID: 18689790
Arthrofibrosis	PMID: 15122136
Asthma	PMID: 14674935
Autoimmune diseases	PMID: 18657583
Axial spondyloarthropathy	PMID: 19850842
Azoospermia	PMID: 3162459
Behcet's disease	PMID: 12372094
Biliary atresia	PMID: 12100571
Biliary primary cirrhosis	PMID: 15975271
Cancer	PMID: 16120569
Celiac disease	PMID: 15496201
Chorioretinitis	PMID: 18340360
Chronic kidney failure	PMID: 18589099
Dermatitis	PMID: 11737038
Diabetes	PMID: 12445315
Diffuse panbronchiolitis	KEGG: H01713
Endometrial cancer	PMID: 28358435
Endometriosis	PMID: 20196820
Endometriosis	PMID: 15831297
Epidermal necrolysis	PMID: 19668019
Eye diseases	PMID: 18385790
Glomerulonephritis	PMID: 18399156
Gonadal dysgenesis	PMID: 7834897
Hemoglobinuria	PMID: 18396213
Hemophilia A	PMID: 18958335
Hypersensitivity	OMIM: 142800
Hypothyroidism	PMID: 15236755
Juvenile arthritis	PMID: 12115193
Macular degeneration	PMID: 19728932
Male infertility	PMID: 2609327
Multiple sclerosis	PMID: 15613143
Myasthenia gravis	PMID: 14700596
Myositis	PMID: 14648147
Myositis	PMID: 15496200
Neuropathy	PMID: 16053028
Osteoporosis	PMID: 17498269
Panbonchiolitis	PMID: 18846964
Pancreatitis	PMID: 11984513
Pemphigus	PMID: 11841366
Periodontitis	PMID: 12941076
Pityriasis rosea	PMID: 16405603
Polycystic ovary syndrome (PCOS)	PMID: 21851420
Endometriosis	INFBASE11775942
Primary ovarian insufficiency (POI)	PMID: 21811055
Psoriasis	PMID: 15853898
pulmonary hypertension	PMID: 15640334
Recurrent pregnancy loss (RPL)/ Abortion/ Miscarriage/ Recurrent pregnancy failure/Pregnancy loss/ Recurrent miscarriage/ Spontaneous abortion	PMID: 3252654
Rheumatic diseases	PMID: 19407364
Sarcoidosis	PMID: 15321756
Schizophrenia	PMID: 9510376
Scleroderma	PMID: 11929590
Sjogren's syndrome	PMID: 11423179
Spermatogenetic defects	PMID: 2609327
Spondylarthritis	PMID: 18578977
Stevens-Johnson syndrome	KEGG: H01694
Stomatitis	PMID: 19046300
Systemic lupus erythematosus	PMID: 16029431
Turner Syndrome(TS)	PMID: 8082315
Unexplained infertility	PMID: 8298667
Urticaria	PMID: 18520158
Uveitis	PMID: 16019679
Uveomeningo encephalitic syndrome	PMID: 18571006
Vitiligo	PMID: 17021767

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Associated_genes	Abstract
18458507	Endometrio sis		Japanes e, Kore an	250 (50 Korean patients with a dvanced endomet riosis, 200 unr elated ethnical ly matched indi viduals)	HLA-A HLA-B	Show abstract
12392856	Endometrio sis	HLA-A24-B0702-Cw0702-DRB1*0101 haplotype	Japanes e	288(123 Japanes e patients with endometriosis, 165 healthy wo men as controls )		Show abstract
12721173	Endometrio sis	HLA DQB1, HLA DPB1		305 (83 patient s diagnosed wit h endometriosis , 222 controls)	HLA	Show abstract
20196820	Endometrio sis			225 (89 patient s, 136 healthy controls)	HLA	Show abstract
15831297	Endometrio sis		Japanes e	97 (38 Japanese women with end ometriosis, 59 with control su bjects)	HLA-ABC HLA-DR	Show abstract
11775942	Endometrio sis					Show abstract
15831297	Endometrio sis		Japanes e	97 (38 Japanese women with end ometriosis, 59 controls)	HLA-ABC HLA-DR CD54 CD40 CD58 CD80 and CD86	Show abstract