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
206597892010Common variants conferring risk of schizophrenia: a pathway analysis of GWAS data.85
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
179135862007Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study.58
202019262010Human variation in alcohol response is influenced by variation in neuronal signaling genes.45
190860532009Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.34
196673172009Decreased GABA-A binding on FMZ-PET in succinic semialdehyde dehydrogenase deficiency.28
193004402009Redox-switch modulation of human SSADH by dynamic catalytic loop.26
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
149815242004A functional polymorphism in the succinate-semialdehyde dehydrogenase (aldehyde dehydrogenase 5 family, member A1) gene is associated with cognitive ability.16
149815242004A functional polymorphism in the succinate-semialdehyde dehydrogenase (aldehyde dehydrogenase 5 family, member A1) gene is associated with cognitive ability.16

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/aldh5a1