ALDH1A3 (aldehyde dehydrogenase 1 family member A3)

2012-12-01  

Identity

HGNC
ALDH1A3
LOCATION
15q26.3
LOCUSID
220
ALIAS
ALDH1A6,ALDH6,MCOP8,RALDH3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 220
MIM: 600463
HGNC: 409
Ensembl: ENSG00000184254

Variants:

dbSNP: 220
ClinVar: 220
TCGA: ENSG00000184254
COSMIC: ALDH1A3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000184254ENST00000329841P47895
ENSG00000184254ENST00000329841A0A024RC95
ENSG00000184254ENST00000346623H0Y2X5
ENSG00000184254ENST00000557963H0YLT1
ENSG00000184254ENST00000558033H0YNQ3
ENSG00000184254ENST00000561338H0YKF9

Expression (GTEx)

0
10
20
30
40
50
60
70
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
Histidine metabolismKEGGko00340
Tyrosine metabolismKEGGko00350
Phenylalanine metabolismKEGGko00360
beta-Alanine metabolismKEGGko00410
Metabolism of xenobiotics by cytochrome P450KEGGko00980
Drug metabolism - cytochrome P450KEGGko00982
Glycolysis / GluconeogenesisKEGGhsa00010
Histidine metabolismKEGGhsa00340
Tyrosine metabolismKEGGhsa00350
Phenylalanine metabolismKEGGhsa00360
beta-Alanine metabolismKEGGhsa00410
Metabolism of xenobiotics by cytochrome P450KEGGhsa00980
Drug metabolism - cytochrome P450KEGGhsa00982
Metabolic pathwaysKEGGhsa01100
Chemical carcinogenesisKEGGhsa05204
Chemical carcinogenesisKEGGko05204
Signal TransductionREACTOMER-HSA-162582
Signaling by Retinoic AcidREACTOMER-HSA-5362517
RA biosynthesis pathwayREACTOMER-HSA-5365859

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
236503912013Mesenchymal glioma stem cells are maintained by activated glycolytic metabolism involving aldehyde dehydrogenase 1A3.223
212801572011Aldehyde dehydrogenase activity of breast cancer stem cells is primarily due to isoform ALDH1A3 and its expression is predictive of metastasis.183
249071152014Essential role of aldehyde dehydrogenase 1A3 for the maintenance of non-small cell lung cancer stem cells is associated with the STAT3 pathway.60
221311252012Aldehyde dehydrogenase activity is a biomarker of primitive normal human mammary luminal cells.41
251060872015Aldehyde dehydrogenase 1A3 influences breast cancer progression via differential retinoic acid signaling.35
275692082016FOXD1-ALDH1A3 Signaling Is a Determinant for the Self-Renewal and Tumorigenicity of Mesenchymal Glioma Stem Cells.35
233125942013ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.34
234366142013HOXA9, ISL1 and ALDH1A3 methylation patterns as prognostic markers for nonmuscle invasive bladder cancer: array-based DNA methylation and expression profiling.34
248848752014Cisplatin-resistant cells in malignant pleural mesothelioma cell lines show ALDH(high)CD44(+) phenotype and sphere-forming capacity.33
194789942009Consequences of lineage-specific gene loss on functional evolution of surviving paralogs: ALDH1A and retinoic acid signaling in vertebrate genomes.29

Citation

Dessen P

ALDH1A3 (aldehyde dehydrogenase 1 family member A3)

Atlas Genet Cytogenet Oncol Haematol. 2012-12-01

Online version: http://atlasgeneticsoncology.org/gene/53102/aldh1a3