HLA-A (major histocompatibility complex, class I, A)

2007-02-01  

Identity

HGNC
LOCATION
6p22.1
LOCUSID
ALIAS
HLAA
FUSION GENES

Other Information

Locus ID:

NCBI: 3105
MIM: 142800
HGNC: 4931
Ensembl: ENSG00000206503

Variants:

dbSNP: 3105
ClinVar: 3105
TCGA: ENSG00000206503
COSMIC: HLA-A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000206503ENST00000376802Q5SRN7
ENSG00000206503ENST00000376806Q5SRN5
ENSG00000206503ENST00000376809P04439
ENSG00000206503ENST00000376809B1PKY1
ENSG00000206503ENST00000396634P04439
ENSG00000206503ENST00000396634B1PKY1
ENSG00000206503ENST00000638375A0A1W2PS24

Expression (GTEx)

0
500
1000
1500
2000
2500
3000
3500

Pathways

PathwaySourceExternal ID
Cell adhesion molecules (CAMs)KEGGko04514
Antigen processing and presentationKEGGko04612
Natural killer cell mediated cytotoxicityKEGGko04650
Type I diabetes mellitusKEGGko04940
Autoimmune thyroid diseaseKEGGko05320
Allograft rejectionKEGGko05330
Graft-versus-host diseaseKEGGko05332
Cell adhesion molecules (CAMs)KEGGhsa04514
Antigen processing and presentationKEGGhsa04612
Natural killer cell mediated cytotoxicityKEGGhsa04650
Type I diabetes mellitusKEGGhsa04940
Autoimmune thyroid diseaseKEGGhsa05320
Allograft rejectionKEGGhsa05330
Graft-versus-host diseaseKEGGhsa05332
EndocytosisKEGGko04144
EndocytosisKEGGhsa04144
Viral myocarditisKEGGhsa05416
PhagosomeKEGGko04145
PhagosomeKEGGhsa04145
HTLV-I infectionKEGGko05166
HTLV-I infectionKEGGhsa05166
Herpes simplex infectionKEGGko05168
Herpes simplex infectionKEGGhsa05168
Epstein-Barr virus infectionKEGGhsa05169
Epstein-Barr virus infectionKEGGko05169
Viral carcinogenesisKEGGhsa05203
Viral carcinogenesisKEGGko05203
DiseaseREACTOMER-HSA-1643685
Infectious diseaseREACTOMER-HSA-5663205
HIV InfectionREACTOMER-HSA-162906
Host Interactions of HIV factorsREACTOMER-HSA-162909
The role of Nef in HIV-1 replication and disease pathogenesisREACTOMER-HSA-164952
Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adaptersREACTOMER-HSA-164938
Nef mediated downregulation of MHC class I complex cell surface expressionREACTOMER-HSA-164940
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Class I MHC mediated antigen processing & presentationREACTOMER-HSA-983169
Antigen Presentation: Folding, assembly and peptide loading of class I MHCREACTOMER-HSA-983170
Antigen processing-Cross presentationREACTOMER-HSA-1236975
ER-Phagosome pathwayREACTOMER-HSA-1236974
Endosomal/Vacuolar pathwayREACTOMER-HSA-1236977
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cellREACTOMER-HSA-198933
Innate Immune SystemREACTOMER-HSA-168249
Cytokine Signaling in Immune systemREACTOMER-HSA-1280215
Interferon SignalingREACTOMER-HSA-913531
Interferon alpha/beta signalingREACTOMER-HSA-909733
Interferon gamma signalingREACTOMER-HSA-877300
Neutrophil degranulationREACTOMER-HSA-6798695

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA153561371egfr inhibitorsChemicalVariantAnnotationambiguousPD23057547
PA162316739Maculopapular ExanthemaDiseaseClinicalAnnotation, VariantAnnotationambiguousPD21149285, 21917426, 22211527, 22348435, 23132554, 23830818, 24268988, 24322785, 24336023, 24897291, 25495410, 27666425, 27888155, 28340402, 29238301, 29610831
PA164742987clavulanateChemicalVariantAnnotationassociatedPD
PA164745461bacampicillinChemicalVariantAnnotationassociatedPD9609616
PA164749390peginterferon alfa-2aChemicalVariantAnnotationassociatedPD23360626
PA164784024peginterferon alfa-2bChemicalVariantAnnotationassociatedPD23360626
PA164925725Toxic liver diseaseDiseaseVariantAnnotationassociatedPD17339877
PA165108357Erythema multiforme NOSDiseaseVariantAnnotationassociatedPD29610831
PA165954030HLA-A*31:01:02HaplotypeLabelAnnotationassociated
PA166048814HyperuricemiaDiseaseVariantAnnotationnot associatedPD23669020
PA166119041drug-induced liver injuryDiseaseVariantAnnotationassociatedPD
PA166120927drug reaction with eosinophilia and systemic symptomsDiseaseClinicalAnnotation, VariantAnnotationassociatedPD21149285, 21917426, 22211527, 22348435, 23132554, 24268988, 24322785, 24336023, 24897291, 25495410, 27888155, 28340402, 29610167, 29610831, 32439433
PA166120928erythema exudativum multiformeDiseaseClinicalAnnotation, VariantAnnotationambiguousPD22211527, 23669020, 27888155
PA166120929severe cutaneous adverse reactionsDiseaseClinicalAnnotation, VariantAnnotationambiguousPD19668019, 20504258, 21149285, 21244392, 21301380, 21393610, 21912425, 21917426, 22348435, 23669020, 24268988, 24322785, 24336023, 24399721, 27888155
PA166123207overall survivalDiseaseVariantAnnotationnot associatedPD23057547
PA166123427HLA-A*02:01HaplotypeLabelAnnotationassociated
PA166151827adverse eventsDiseaseClinicalAnnotation, VariantAnnotationassociatedPD30020991
PA166182718ipilimumabChemicalLabelAnnotationassociated
PA443936Drug HypersensitivityDiseaseClinicalAnnotation, VariantAnnotationassociatedPD15743917, 17587850, 21149285, 21301380, 21393610, 21545408, 21912425, 21917426, 22211527, 22348435, 23132554, 23669020, 23830818, 24268988, 24322785, 24336023, 24897291, 25495410, 27749688, 27888155, 28340402, 29233746, 29610831
PA443937Drug ToxicityDiseaseVariantAnnotationassociatedPD22211527
PA444059Epidermal Necrolysis, ToxicDiseaseClinicalAnnotation, VariantAnnotationambiguousPD21149285, 21545408, 21917426, 22211527, 22348435, 23132554, 24236482, 24268988, 24322785, 24336023, 24897291, 25495410, 27888155, 28340402, 28570299, 29610831
PA444065EpilepsyDiseaseClinicalAnnotation, VariantAnnotationambiguousPD24399721, 27666425, 28340402, 29610831, 30020991
PA444109ExanthemaDiseaseVariantAnnotationambiguousPD19104471, 21393610, 23057547, 28340402
PA444445Hepatitis CDiseaseVariantAnnotationassociatedPD23360626
PA444546HypersensitivityDiseaseVariantAnnotationassociatedPD29610831
PA444547Hypersensitivity, DelayedDiseaseVariantAnnotationassociatedPD9609616
PA444684Kidney Failure, ChronicDiseaseVariantAnnotationambiguousPD21393610
PA445062NeoplasmsDiseaseVariantAnnotationambiguousPD23057547
PA445096NeuralgiaDiseaseVariantAnnotationassociatedPD29610831
PA445738Stevens-Johnson SyndromeDiseaseClinicalAnnotation, VariantAnnotationambiguousPD15743917, 17587850, 21149285, 21301380, 21393610, 21545408, 21912425, 21917426, 22211527, 22348435, 23132554, 23669020, 24236482, 24268988, 24322785, 24336023, 24897291, 25495410, 27888155, 28340402, 28570299, 29610831
PA447199Bipolar DisorderDiseaseVariantAnnotationassociatedPD29610831
PA447216SchizophreniaDiseaseVariantAnnotationassociatedPD29610831
PA447230HIVDiseaseVariantAnnotationnot associatedPD19104471
PA448015acetaminophenChemicalVariantAnnotationnot associatedPD21545408
PA448320allopurinolChemicalClinicalAnnotation, VariantAnnotationambiguousPD15743917, 17587850, 21301380, 21393610, 21545408, 21912425, 23669020
PA448406amoxicillinChemicalVariantAnnotationassociatedPD9609616
PA448419ampicillinChemicalVariantAnnotationassociatedPD9609616
PA448785carbamazepineChemicalClinicalAnnotation, GuidelineAnnotation, LabelAnnotation, VariantAnnotationambiguousPD21149285, 21244392, 21917426, 22211527, 22348435, 23132554, 23830818, 24268988, 24322785, 24336023, 24399721, 24897291, 25495410, 27888155, 28340402, 28570299, 29610831
PA449211dapsoneChemicalClinicalAnnotation, VariantAnnotationassociatedPD29233746
PA449594fenofibrateChemicalVariantAnnotationassociatedPD
PA450164lamotrigineChemicalClinicalAnnotation, VariantAnnotationambiguousPD19668019, 23830818, 25495410, 29238301
PA450206levetiracetamChemicalClinicalAnnotation, VariantAnnotationassociatedPD30020991
PA450413methazolamideChemicalVariantAnnotationnot associatedPD20504258
PA450616nevirapineChemicalVariantAnnotationnot associatedPD19104471
PA450732oxcarbazepineChemicalClinicalAnnotation, VariantAnnotationambiguousPD27666425, 29610167
PA450911phenobarbitalChemicalVariantAnnotationnot associatedPD24236482
PA450947phenytoinChemicalClinicalAnnotation, VariantAnnotationambiguousPD27888155
PA451241ribavirinChemicalVariantAnnotationassociatedPD23360626
PA451333sertralineChemicalVariantAnnotationassociatedPD
PA451614terbinafineChemicalVariantAnnotationassociatedPD
PA451632tetanus antitoxinChemicalVariantAnnotationassociatedPD27749688
PA451686ticlopidineChemicalVariantAnnotationassociatedPD17339877
PA451850vancomycinChemicalClinicalAnnotationassociatedPD32439433
PA451978zonisamideChemicalClinicalAnnotation, MultilinkAnnotation, VariantAnnotationassociatedPD24236482

References

Pubmed IDYearTitleCitations
195718112009Common polygenic variation contributes to risk of schizophrenia and bipolar disorder.1713
177855832007High-resolution donor-recipient HLA matching contributes to the success of unrelated donor marrow transplantation.316
120291272002Evidence of HIV-1 adaptation to HLA-restricted immune responses at a population level.308
214287692011HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans.195
157439172005HLA-B*5801 allele as a genetic marker for severe cutaneous adverse reactions caused by allopurinol.194
180043012007Localization of type 1 diabetes susceptibility to the MHC class I genes HLA-B and HLA-A.169
151919522004Impact of HLA class I and class II high-resolution matching on outcomes of unrelated donor bone marrow transplantation: HLA-C mismatching is associated with a strong adverse effect on transplantation outcome.153
178696532007High-resolution HLA alleles and haplotypes in the United States population.130
115439032001Analysis of the frequencies of HLA-A, B, and C alleles and haplotypes in the five major ethnic groups of the United States reveals high levels of diversity in these loci and contrasting distribution patterns in these populations.120
165381762006Genetic susceptibility to carbamazepine-induced cutaneous adverse drug reactions.112

Citation

Dessen P

HLA-A (major histocompatibility complex, class I, A)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46138/hla-a