ADH1B (alcohol dehydrogenase 1B (class I), beta polypeptide)

2003-08-01  

Identity

HGNC
ADH1B
LOCATION
4q23
LOCUSID
125
ALIAS
ADH2,HEL-S-117

Other Information

Locus ID:

NCBI: 125
MIM: 103720
HGNC: 250
Ensembl: ENSG00000196616

Variants:

dbSNP: 125
ClinVar: 125
TCGA: ENSG00000196616
COSMIC: ADH1B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000196616ENST00000305046P00325
ENSG00000196616ENST00000506651D6RHZ6
ENSG00000196616ENST00000625860D6RHZ6
ENSG00000196616ENST00000639454V9HW50

Expression (GTEx)

0
500
1000
1500
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
Glycolysis / GluconeogenesisKEGGko00010
Fatty acid degradationKEGGko00071
Tyrosine metabolismKEGGko00350
Retinol metabolismKEGGko00830
Metabolism of xenobiotics by cytochrome P450KEGGko00980
Drug metabolism - cytochrome P450KEGGko00982
Glycolysis / GluconeogenesisKEGGhsa00010
Fatty acid degradationKEGGhsa00071
Tyrosine metabolismKEGGhsa00350
Retinol metabolismKEGGhsa00830
Metabolism of xenobiotics by cytochrome P450KEGGhsa00980
Drug metabolism - cytochrome P450KEGGhsa00982
Metabolic pathwaysKEGGhsa01100
Chemical carcinogenesisKEGGhsa05204
Chemical carcinogenesisKEGGko05204
MetabolismREACTOMER-HSA-1430728
Biological oxidationsREACTOMER-HSA-211859
Phase 1 - Functionalization of compoundsREACTOMER-HSA-211945
Ethanol oxidationREACTOMER-HSA-71384

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA166156507rs1229984VariantVipGeneassociated16571603, 16792560, 15099407
PA166156533rs2066702VariantVipGeneassociated16571603
PA166186245acetaldehydeChemicalClinicalAnnotationassociatedPK31002879
PA443309AlcoholismDiseaseClinicalAnnotation, VipGeneassociatedPD15902904, 16086315, 32451486
PA443450AsthmaDiseaseVipGeneassociated15099407
PA443635Cardiovascular DiseasesDiseaseVipGeneassociated15099407
PA444167Fetal Alcohol SyndromeDiseaseVipGeneassociated15099407
PA444318GoutDiseaseVipGeneassociated15099407
PA444802Liver Diseases, AlcoholicDiseaseVipGeneassociated15099407
PA445168Oropharyngeal NeoplasmsDiseaseVipGeneassociated15099407
PA448004abacavirChemicalPathwayassociated24625462
PA448073ethanolChemicalClinicalAnnotation, VipGeneassociatedPKPD15902904, 16571603, 23240771, 32451486

References

Pubmed IDYearTitleCitations
172938642007A common coding variant in CASP8 is associated with breast cancer risk.218
250114502014Association between alcohol and cardiovascular disease: Mendelian randomisation analysis based on individual participant data.140
196987172009Functional variants in ADH1B and ALDH2 coupled with alcohol and smoking synergistically enhance esophageal cancer risk.107
229609992012Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions.102
198745742009Genetical genomic determinants of alcohol consumption in rats and humans.93
219689282012ADH1B is associated with alcohol dependence and alcohol consumption in populations of European and African ancestry.93
189969232009Associations of ADH and ALDH2 gene variation with self report alcohol reactions, consumption and dependence: an integrated analysis.89
189969232009Associations of ADH and ALDH2 gene variation with self report alcohol reactions, consumption and dependence: an integrated analysis.89
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
198984822009Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy.84

Citation

Dessen P

ADH1B (alcohol dehydrogenase 1B (class I), beta polypeptide)

Atlas Genet Cytogenet Oncol Haematol. 2003-08-01

Online version: http://atlasgeneticsoncology.org/gene/582/adh1b-(alcohol-dehydrogenase-1b-(class-i)-beta-polypeptide)