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Gene id 3105
Gene Summary    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed    

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, LOW QUALITY PROTEIN: 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
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

Tissue specificity: Abundantly expressed in thymocytes and lymphocytes. Detected in lymphocyte-rich tissues such as thymus, colon, intestine, and spleen. Also found in the prostate.

Sequence MAVMAPRTLLLLLSGALALTQTWAGSHSMRYFFTSVSRPGRGEPRFIAVGYVDDTQFVRFDSDAASQRMEPRAPW
IEQEGPEYWDQETRNVKAQSQTDRVDLGTLRGYYNQSEAGSHTIQIMYGCDVGSDGRFLRGYRQDAYDGKDYIAL
NEDLRSWTAADMAAQITKRKWEAAHEAEQLRAYLDGTCVEWLRRYLENGKETLQRTDPPKTHMTHHPISDHEATL
RCWALGFYPAEITLTWQRDGEDQTQDTELVETRPAGDGTFQKWAAVVVPSGEEQRYTCHVQHEGLPKPLTLRWEL
SSQPTIPIVGIIAGLVLLGAVITGAVVAAVMWRRKSSDRKGGSYTQAASSDSAQGSDVSLTACKV
Structural information
Protein Domains
 Ig-like (209-295)
Interpro:  IPR007110  IPR036179  IPR013783  IPR003006  IPR003597  
IPR011161  IPR037055  IPR011162  IPR001039  IPR010579  
Prosite:   PS50835 PS00290

PDB:  		 2XPG 3RL1 3RL2 6ENY
PDBsum:   2XPG 3RL1 3RL2 6ENY
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

Tissue specificity: Ubiquitous. {ECO

Sequence MAVMAPRTLLLLLSGALALTQTWAGSHSMRYFFTSVSRPGRGEPRFIAVGYVDDTQFVRFDSDAASQKMEPRAPW
IEQEGPEYWDQETRNMKAHSQTDRANLGTLRGYYNQSEDGSHTIQIMYGCDVGPDGRFLRGYRQDAYDGKDYIAL
NEDLRSWTAADMAAQITKRKWEAVHAAEQRRVYLEGRCVDGLRRYLENGKETLQRTDPPKTHMTHHPISDHEATL
RCWALGFYPAEITLTWQRDGEDQTQDTELVETRPAGDGTFQKWAAVVVPSGEEQRYTCHVQHEGLPKPLTLRWEL
SSQPTIPIVGIIAGLVLLGAVITGAVVAAVMWRRKSSDRKGGSYTQAASSDSAQGSDVSLTACKV
Structural information
Protein Domains
 Ig-like (209-295)
Interpro:  IPR007110  IPR036179  IPR013783  IPR003006  IPR003597  
IPR011161  IPR037055  IPR011162  IPR001039  IPR010579  
Prosite:   PS50835 PS00290

PDB:  		 1W72 3BO8 4NQV 4NQX 5BRZ 5BS0
PDBsum:   1W72 3BO8 4NQV 4NQX 5BRZ 5BS0
MINT:  
Other Databases GeneCards:  HLA-A  Malacards:  HLA-A

Gene ontology

Expand All | Collapse All
GO accessionTerm nameEvidence codeGo 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: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
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

KEGG pathways

Expand All | Collapse All

Pathway idPathway name
hsa00564Glycerophospholipid metabolism
hsa00590Arachidonic acid metabolism
hsa00590Arachidonic acid metabolism
hsa00260Glycine, serine and threonine metabolism
hsa00510N-Glycan biosynthesis
hsa00515Mannose type O-glycan biosynthesis
hsa03420Nucleotide excision repair
hsa04015Rap1 signaling pathway
hsa04010MAPK signaling pathway
hsa04010MAPK signaling pathway
hsa04010MAPK signaling pathway
hsa04010MAPK signaling pathway
hsa04340Hedgehog signaling pathway
hsa04350TGF-beta signaling pathway
hsa04390Hippo signaling pathway
hsa04370VEGF signaling pathway
hsa04371Apelin signaling pathway
hsa04371Apelin signaling pathway
hsa04630JAK-STAT signaling pathway
hsa04514Cell adhesion molecules
hsa04144Endocytosis
hsa04145Phagosome
hsa04218Cellular senescence
hsa04650Natural killer cell mediated cytotoxicity
hsa04612Antigen processing and presentation
hsa05203Viral carcinogenesis
hsa05320Autoimmune thyroid disease
hsa05330Allograft rejection
hsa05332Graft-versus-host disease
hsa05416Viral myocarditis
hsa04940Type I diabetes mellitus
hsa05166Human T-cell leukemia virus 1 infection
hsa05170Human immunodeficiency virus 1 infection
hsa05168Herpes simplex virus 1 infection
hsa05163Human cytomegalovirus infection
hsa05167Kaposi sarcoma-associated herpesvirus infection
hsa05169Epstein-Barr virus infection
hsa05165Human papillomavirus infection

Diseases

Expand All | Collapse All
Associated diseases References
Cancer GAD: 16120569
Cancer (Adenocarcinoma) GAD: 20548248
Cancer (B-Cell lymphomas) GAD: 17311253
Cancer (brain) GAD: 19487887
Cancer (breast) GAD: 19196481
Cancer (ovarian) GAD: 17290883
Cancer (prostate) GAD: 10657015
Cancer (Renal cell) GAD: 14991587
Cancer (Squamous cell) GAD: 20501960
Paraneoplastic syndromes GAD: 20547426
Cancer (cervical) GAD: 16386646
Cancer (esophageal) GAD: 19392852
Cancer (glioblastoma) GAD: 16103458
Cancer (head and neck) GAD: 16857416
Cancer (Hematologic) GAD: 18347914
Cancer (leukemia) GAD: 16120569
Cancer (lung) GAD: 19246116
Cancer (lymphoma) GAD: 15546341
Cancer (melanoma) GAD: 16101833
Cancer (meningioma) GAD: 14693734
Cancer (nasopharyngeal) GAD: 12464650
Cancer (Neuroblastoma) GAD: 19934297
Aneurysm GAD: 12917841
Cardiovascular disease GAD: 17578051
Hypertension GAD: 19165231
Hemochromatosis GAD: 11887210
Neuropathy GAD: 16053028
Primary biliary cirrhosis GAD: 15975271
Graves disease GAD: 20300120
Chorioretinitis GAD: 18340360
Macular degeneration GAD: 19728932
Uveitis GAD: 16019679
Eye diseases GAD: 18385790
Agranulocytosis GAD: 11266078
AHG deficiency disease GAD: 20536993
Anemia GAD: 18689790
Aplastic anemia GAD: 19860590
Hemophilia GAD: 18958335
Sarcoidosis GAD: 15321756
Mucocutaneous lymph node syndrome GAD: 18064508
Lymphoproliferative disorders GAD: 18344933
Addison's disease GAD: 20631027
Alopecia areata GAD: 16185849
Alveolitis GAD: 16362107
Arthritis GAD: 12115193
Asthma GAD: 14674935
Autoimmune diseases GAD: 11678832
Autoimmune diseases GAD: 11678832
Axial spondyloarthropathy GAD: 19850842
Behcet's disease GAD: 19038507
Behcet's disease GAD: 12372094
Celiac disease GAD: 15496201
Chronic ulcerative colitis GAD: 15307871
Churg-Strauss Syndrome GAD: 17763415
Juvenile arthritis GAD: 17509091
Ulcerative colitis GAD: 18223493
Juvenile arthritis GAD: 17509091
Multiple sclerosis GAD: 14504973
Psoriasis GAD: 15245541
Scleroderma GAD: 11929590
Systemic lupus erythematosus (SLE) GAD: 19851445
Hypersensitivity OMIM: 142800
Biliary atresia GAD: 12100571
Diabetes GAD: 12445315
Osteoporosis GAD: 17498269
Spondylarthropathies GAD: 18578977
Rheumatic diseases GAD: 19407364
Paraparesis GAD: 20483367
Uveomeningoencephalitic syndrome GAD: 18571006
Myasthenia gravis GAD: 15301866
Alzheimer's disease GAD: 19141999
Arthrofibrosis GAD: 15122136
Autism GAD: 21084121
Psychological disorders GAD: 20613458
Schizophrenia GAD: 9510376
Chronic renal failure GAD: 14700599
Kidney diseases GAD: 18589099
Abortion GAD: 20307907
Polycystic ovary syndrome (PCOS) GAD: 16533342
Preeclampsia GAD: 12443029
Recurrent pregnancy loss (RPL) GAD: 15304010
Pregnancy loss GAD: 19223392
Recurrent pregnancy loss (RPL) GAD: 15304010
Endometriosis INFBASE: 18458507
Endometriosis INFBASE: 12392856
Female infertility INFBASE: 15831297
Recurrent pregnancy loss (RPL) INFBASE: 3252654
Recurrent pregnancy loss (RPL) INFBASE: 9806576
Primary ovarian insufficiency (POI) INFBASE: 21811055
Polycystic ovary syndrome (PCOS) INFBASE: 2347091
Recurrent pregnancy loss (RPL) INFBASE: 132121
Turners syndrome INFBASE: 2491644
Azoospermia MIK: 3162459
Gonadal dysgenesis MIK: 7834897
Male factor infertility MIK: 9598492
Male factor infertility MIK: 21689134
Sperm autoantibodies MIK: 2609327
Male factor infertility MIK: 2609327
Oligozoospermia MIK: 3162459
Unexplained infertility MIK: 8298667
Non obstructive azoospermia MIK: 22541561
Hypothyroidism GAD: 15236755
Azoospermia MIK: 9598492
Congenital adrenal hyperplasia INFBASE: 2347091
Female infertility INFBASE: 21851420
Pulmonary hypertension GAD: 15640334
Dermatitis GAD: 11737038
Pityriasis rosea GAD: 16405603
Vitiligo GAD: 17021767
Keloids GAD: 19932885
Epidermal Necrolysis GAD: 19668019
Pemphigus vulgaris GAD: 11841366
Urticaria GAD: 18520158
Stevens-Johnson Syndrome KEGG: H01694
Bronchiectasis GAD: 18241227
Complex Regional Pain Syndromes GAD: 19523767
Diffuse panbonchiolitis GAD: 18846964
Nephrosis GAD: 18949728
Nephrotic syndrome GAD: 11956863
Hemoglobinuria GAD: 18396213
Azoospermia MIK: 3162459
Oligozoospermia MIK: 3162459
Gonadal dysgenesis MIK: 7834897
Hypospermatogenesis MIK: 28361989
Idiopathic azoospermia MIK: 9598492
Male infertility MIK: 2609327
Non-obstructive azoospermia (NOA) MIK: 22541561
Teratozoospermia MIK: 17327269
Unexplained infertility MIK: 8298667

PubMed references

Expand All | Collapse All
PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
7834897 Gonadal dy
sgenesis
50 patients wit
h gonadal dysge
nesis (GD), 50
patients thyrog
lobulin and/or
microsomal anti
bodies
 Male infertility HLA-A
B and DR
 Show abstract
2609327 Male infer
tility
 Caucasi
an
 80 ( 22 inferti
le with sperm a
utoantibodies,
58 infertile wi
th sperm autoan
tibodies)
 Male infertility HLA-A
B and DR
 Show abstract
3162459 Azoospermi
a, oligosp
ermia
71 men with azo
ospermia and ol
igospermia
 Male infertility
Show abstract
9598492 Idiopathic
 azoosperm
ia
 Japanes
e
 1281 (1,216 hea
lthy men, 65 in
fertile Japanes
e men with idio
pathic azoosper
mia)
 Male infertility HLA-A33
B13 and B44
 Show abstract
8298667 Unexplaine
d infertil
ity
68 (11 couples
with infertilit
y of unknown et
iology, 26 with
infertility of
known etiology
, and 31 fertil
e couples were
tested for HLA
class I (A, B,
C), class II (D
R, MLC), and cl
ass III (Bf) an
tigens and GLO
alleles)
 Male infertility, Female infertility
Show abstract
21689134 Idiopathic
male infe
rtility
 Chinese
Han
 261 (109 patien
ts with idiopat
hic male infert
ility, 152 heal
thy controls)
 Male infertility
Show abstract
22541561 Nonobstruc
tive azoos
permia (NO
A)
 HLA-DRA (rs3129878), rs498422 Han Chi
nese
 6802 (2226 azoo
spermia cases,
4576 controls)
 Male infertility HLA
C6orf10 and BTNL2
 Show abstract
6222922 Unexplaine
d infertil
ity
14 couples with
unexplained in
fertility
 Male infertility, Female infertility HLA-A
 Show abstract
2609327 Sperm auto
-antibodie
s (S.A.A.)
 Caucasi
an
 80 (22 infertil
e men with cyto
toxic S.A.A. in
serum (S) and/
or seminal plas
ma (SP), 58 inf
ertile men with
out cytotoxic S
.A.A. in serum
(S) and/or semi
nal plasma (SP)
)
 Male infertility HLA-A
HLA-B
HLA-DR
 Show abstract
17327269 Teratozoos
permia
13 (5 controls,
8 cases)
 Male infertility GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
 Show abstract
28361989 Hyposperma
togenesis
6 (3 controls,
3 Klienfelter s
yndrome
 Male infertility Microarray
 Show abstract