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

2007-02-01  

Identity

HGNC
HLA-A
LOCATION
6p22.1
LOCUSID
3105
ALIAS
HLAA
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
383264062024Molecular mechanism of specific HLA-A mRNA recognition by the RNA-binding-protein hMEX3B to promote tumor immune escape.0
389463722024[Genetic study of a rare Chinese pedigree with a recombination occurring between the HLA-A/C loci in both parents].0
383264062024Molecular mechanism of specific HLA-A mRNA recognition by the RNA-binding-protein hMEX3B to promote tumor immune escape.0
389463722024[Genetic study of a rare Chinese pedigree with a recombination occurring between the HLA-A/C loci in both parents].0
361809672023Identification of the novel HLA-A*11:01:115 allele, detected in two unrelated bone marrow donors.0
362746462023Identification of three novel HLA class I alleles: HLA-A*02:1008, -A*24:553 and -C*12:350.0
362787302023The identification of three novel HLA-A alleles: HLA-A*03:390:02, -A*26:112:02 and -A*26:221.0
363051752023Two novel HLA class I alleles HLA-A*03:409 and -B*49:72 and the extension of the -B*40:19 allele sequence.0
364374142023Differential HLA class I subunit (A, B, C heavy chain and β(2)-microglobulin) expression levels in normal tissues.0
365950602023The impact of HLA polymorphism on herpesvirus infection and disease.1
369993622023Description of two new HLA alleles, HLA-A*26:01:70 and HLA-A*26:01:74 in Chinese individuals.0
370167512023Characterization of the novel HLA-A*33 allele, HLA-A*33:03:55 in a Chinese individual.0
372464692023Frequency changes in HLA-I alleles: A marker to guide immunotherapy in lung adenocarcinoma patients and its relationship with tumor mutational burden and PD-L1 expression.1
374173172023Human Leukocyte Antigen Polymorphism HLA-A*24:02 is Associated with Acute Liver Disease in HBV-Infected Han Chinese Adults.0
374855952023HLA-A*02:06 allele may be susceptible to myelodysplastic syndrome in Zhejiang Han population, China.0

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/meetings/gene-explorer/