ALDH5A1 (aldehyde dehydrogenase 5 family member A1)

2018-07-01  

Identity

HGNC
ALDH5A1
LOCATION
6p22.3
LOCUSID
7915
ALIAS
SSADH,SSDH
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 7915
MIM: 610045
HGNC: 408
Ensembl: ENSG00000112294

Variants:

dbSNP: 7915
ClinVar: 7915
TCGA: ENSG00000112294
COSMIC: ALDH5A1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000112294ENST00000348925P51649
ENSG00000112294ENST00000348925X5D299
ENSG00000112294ENST00000357578P51649
ENSG00000112294ENST00000357578X5DQN2
ENSG00000112294ENST00000491546C9J8Q5

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
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
Butanoate metabolismKEGGko00650
Butanoate metabolismKEGGhsa00650
Alanine, aspartate and glutamate metabolismKEGGko00250
Alanine, aspartate and glutamate metabolismKEGGhsa00250
Metabolic pathwaysKEGGhsa01100
GABA (gamma-Aminobutyrate) shuntKEGGhsa_M00027
GABA (gamma-Aminobutyrate) shuntKEGGM00027
Neuronal SystemREACTOMER-HSA-112316
Transmission across Chemical SynapsesREACTOMER-HSA-112315
Neurotransmitter Release CycleREACTOMER-HSA-112310
GABA synthesis, release, reuptake and degradationREACTOMER-HSA-888590
Degradation of GABAREACTOMER-HSA-916853

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
PA445043Opioid-Related DisordersDiseaseClinicalAnnotationassociatedPD24230997
PA450401methadoneChemicalClinicalAnnotationassociatedPD24230997
PA451846valproic acidChemicalPathwayassociated23407051

References

Pubmed IDYearTitleCitations
381100412024ALDH5A1-deficient iPSC-derived excitatory and inhibitory neurons display cell type specific alterations.2
386588502024Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder.1
387912772024Functional Characterization of a Spectrum of Genetic Variants in a Family with Succinic Semialdehyde Dehydrogenase Deficiency.0
381100412024ALDH5A1-deficient iPSC-derived excitatory and inhibitory neurons display cell type specific alterations.2
386588502024Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder.1
387912772024Functional Characterization of a Spectrum of Genetic Variants in a Family with Succinic Semialdehyde Dehydrogenase Deficiency.0
369764942023Glioma Cells Expressing High Levels of ALDH5A1 Exhibit Enhanced Migration Transcriptional Signature in Patient Tumors.2
379626712023Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants.5
369764942023Glioma Cells Expressing High Levels of ALDH5A1 Exhibit Enhanced Migration Transcriptional Signature in Patient Tumors.2
379626712023Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants.5
328810512021ALDH5A1 acts as a tumour promoter and has a prognostic impact in papillary thyroid carcinoma.9
333193932021Gene expression analysis in epileptic hippocampi reveals a promoter haplotype conferring reduced aldehyde dehydrogenase 5a1 expression and responsiveness.1
348820732021Assessing Prevalence and Carrier Frequency of Succinic Semialdehyde Dehydrogenase Deficiency.7
328810512021ALDH5A1 acts as a tumour promoter and has a prognostic impact in papillary thyroid carcinoma.9
333193932021Gene expression analysis in epileptic hippocampi reveals a promoter haplotype conferring reduced aldehyde dehydrogenase 5a1 expression and responsiveness.1

Citation

Dessen P

ALDH5A1 (aldehyde dehydrogenase 5 family member A1)

Atlas Genet Cytogenet Oncol Haematol. 2018-07-01

Online version: http://atlasgeneticsoncology.org/gene/57398