ALDH1B1 (aldehyde dehydrogenase 1 family member B1)

2012-12-01  

Identity

HGNC
ALDH1B1
LOCATION
9p13.1
LOCUSID
219
ALIAS
ALDH5,ALDHX
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 219
MIM: 100670
HGNC: 407
Ensembl: ENSG00000137124

Variants:

dbSNP: 219
ClinVar: 219
TCGA: ENSG00000137124
COSMIC: ALDH1B1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000137124ENST00000377698P30837
ENSG00000137124ENST00000377698A0A384MTJ7
ENSG00000137124ENST00000635162A0A0U1RQK9

Expression (GTEx)

0
50
100
150
200
250
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
Ascorbate and aldarate metabolismKEGGko00053
Fatty acid degradationKEGGko00071
Valine, leucine and isoleucine degradationKEGGko00280
Lysine degradationKEGGko00310
Arginine and proline metabolismKEGGko00330
Histidine metabolismKEGGko00340
Tryptophan metabolismKEGGko00380
beta-Alanine metabolismKEGGko00410
Glycerolipid metabolismKEGGko00561
Pyruvate metabolismKEGGko00620
Glycolysis / GluconeogenesisKEGGhsa00010
Ascorbate and aldarate metabolismKEGGhsa00053
Fatty acid degradationKEGGhsa00071
Valine, leucine and isoleucine degradationKEGGhsa00280
Lysine degradationKEGGhsa00310
Arginine and proline metabolismKEGGhsa00330
Histidine metabolismKEGGhsa00340
Tryptophan metabolismKEGGhsa00380
beta-Alanine metabolismKEGGhsa00410
Glycerolipid metabolismKEGGhsa00561
Pyruvate metabolismKEGGhsa00620
Metabolic pathwaysKEGGhsa01100
GABA biosynthesis, eukaryotes, putrescine => GABAKEGGhsa_M00135
GABA biosynthesis, eukaryotes, putrescine => GABAKEGGM00135
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

References

Pubmed IDYearTitleCitations
212162312011Aldehyde dehydrogenase 1B1 (ALDH1B1) is a potential biomarker for human colon cancer.39
207340642010A large-scale candidate gene association study of age at menarche and age at natural menopause.38
202057002010Genetic determinants of both ethanol and acetaldehyde metabolism influence alcohol hypersensitivity and drinking behaviour among Scandinavians.25
202057002010Genetic determinants of both ethanol and acetaldehyde metabolism influence alcohol hypersensitivity and drinking behaviour among Scandinavians.25
187823422008The association of ADH and ALDH gene variants with alcohol drinking habits and cardiovascular disease risk factors.22
263660592015Distinct prognostic values and potential drug targets of ALDH1 isoenzymes in non-small-cell lung cancer.22
259509502015ALDH1B1 Is Crucial for Colon Tumorigenesis by Modulating Wnt/β-Catenin, Notch and PI3K/Akt Signaling Pathways.19
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
174715632007Contribution of the alcohol dehydrogenase-1B genotype and oral microorganisms to high salivary acetaldehyde concentrations in Japanese alcoholic men.16
176280222007Intrinsic retinoic acid receptor alpha-cyclin-dependent kinase-activating kinase signaling involves coordination of the restricted proliferation and granulocytic differentiation of human hematopoietic stem cells.16

Citation

Dessen P

ALDH1B1 (aldehyde dehydrogenase 1 family member B1)

Atlas Genet Cytogenet Oncol Haematol. 2012-12-01

Online version: http://atlasgeneticsoncology.org/gene/53104/aldh1b1-(aldehyde-dehydrogenase-1-family-member-b1)