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ALDH5A1

GENERAL INFORMATION

Gene name

 ALDH5A1

Gene description

 Aldehyde dehydrogenase 5 family, member A1

Protein class

 Disease related genes
Enzymes
Potential drug targets
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 3
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Granular cytoplasmic expression in most tissues.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Supported based on 2 antibodies.
HPA029715 , HPA029716
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 ALDH5A1 (HGNC Symbol)

Synonyms

 SSADH, SSDH

Description

 Aldehyde dehydrogenase 5 family, member A1 (HGNC Symbol)

Entrez gene summary

 This protein belongs to the aldehyde dehydrogenase family of proteins. This gene encodes a mitochondrial NAD(+)-dependent succinic semialdehyde dehydrogenase. A deficiency of this enzyme, known as 4-hydroxybutyricaciduria, is a rare inborn error in the metabolism of the neurotransmitter 4-aminobutyric acid (GABA). In response to the defect, physiologic fluids from patients accumulate GHB, a compound with numerous neuromodulatory properties. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

Chromosome

 6

Cytoband

 p22.3

Chromosome location (bp)

 24494852 - 24537207

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000112294 (version 83.38)

Entrez gene

 7915

UniProt

 P51649 (UniProt - Evidence at protein level)

neXtProt

 NX_P51649

Antibodypedia

 ALDH5A1 antibodies

PROTEIN BROWSER
ALDH5A1-001
ALDH5A1-002
ALDH5A1-003

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
ALDH5A1-001
ENSP00000350191
ENST00000357578
P51649 [Direct mapping]
Succinate-semialdehyde dehydrogenase, mitochondrial
X5DQN2 [Target identity:100%; Query identity:100%]
Aldehyde dehydrogenase 5 family member A1 isoform B; Aldehyde dehydrogenase 5 family, member A1 (Succinate-semialdehyde dehydrogenase), isoform CRA_b
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Enzymes
   ENZYME proteins
   Oxidoreductases
   MEMSAT-SVM predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004029 [aldehyde dehydrogenase (NAD) activity]
GO:0004777 [succinate-semialdehyde dehydrogenase (NAD+) activity]
GO:0005739 [mitochondrion]
GO:0005759 [mitochondrial matrix]
GO:0006006 [glucose metabolic process]
GO:0006083 [acetate metabolic process]
GO:0006105 [succinate metabolic process]
GO:0006536 [glutamate metabolic process]
GO:0006541 [glutamine metabolic process]
GO:0006650 [glycerophospholipid metabolic process]
GO:0006681 [galactosylceramide metabolic process]
GO:0006749 [glutathione metabolic process]
GO:0007268 [synaptic transmission]
GO:0007269 [neurotransmitter secretion]
GO:0007417 [central nervous system development]
GO:0008152 [metabolic process]
GO:0009013 [succinate-semialdehyde dehydrogenase [NAD(P)+] activity]
GO:0009450 [gamma-aminobutyric acid catabolic process]
GO:0016491 [oxidoreductase activity]
GO:0022904 [respiratory electron transport chain]
GO:0042135 [neurotransmitter catabolic process]
GO:0042803 [protein homodimerization activity]
GO:0046459 [short-chain fatty acid metabolic process]
GO:0051289 [protein homotetramerization]
GO:0055114 [oxidation-reduction process]
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 535 aa
57.2 kDa 		No 0
ALDH5A1-002
ENSP00000314649
ENST00000348925
P51649 [Direct mapping]
Succinate-semialdehyde dehydrogenase, mitochondrial
X5D299 [Target identity:100%; Query identity:100%]
Aldehyde dehydrogenase 5 family member A1 isoform A
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Enzymes
   ENZYME proteins
   Oxidoreductases
   MEMSAT-SVM predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004029 [aldehyde dehydrogenase (NAD) activity]
GO:0004777 [succinate-semialdehyde dehydrogenase (NAD+) activity]
GO:0005739 [mitochondrion]
GO:0005759 [mitochondrial matrix]
GO:0006006 [glucose metabolic process]
GO:0006083 [acetate metabolic process]
GO:0006105 [succinate metabolic process]
GO:0006536 [glutamate metabolic process]
GO:0006541 [glutamine metabolic process]
GO:0006650 [glycerophospholipid metabolic process]
GO:0006678 [glucosylceramide metabolic process]
GO:0006681 [galactosylceramide metabolic process]
GO:0006749 [glutathione metabolic process]
GO:0007268 [synaptic transmission]
GO:0007269 [neurotransmitter secretion]
GO:0007417 [central nervous system development]
GO:0008152 [metabolic process]
GO:0009013 [succinate-semialdehyde dehydrogenase [NAD(P)+] activity]
GO:0009448 [gamma-aminobutyric acid metabolic process]
GO:0009450 [gamma-aminobutyric acid catabolic process]
GO:0009791 [post-embryonic development]
GO:0016491 [oxidoreductase activity]
GO:0022904 [respiratory electron transport chain]
GO:0031406 [carboxylic acid binding]
GO:0042135 [neurotransmitter catabolic process]
GO:0042803 [protein homodimerization activity]
GO:0046459 [short-chain fatty acid metabolic process]
GO:0051287 [NAD binding]
GO:0051289 [protein homotetramerization]
GO:0055114 [oxidation-reduction process]
Show all
 548 aa
58.7 kDa 		No 0
ALDH5A1-003
ENSP00000417687
ENST00000491546
C9J8Q5 [Direct mapping]
Succinate-semialdehyde dehydrogenase, mitochondrial
Show all
   MEMSAT-SVM predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004029 [aldehyde dehydrogenase (NAD) activity]
GO:0005739 [mitochondrion]
GO:0008152 [metabolic process]
GO:0009013 [succinate-semialdehyde dehydrogenase [NAD(P)+] activity]
GO:0009450 [gamma-aminobutyric acid catabolic process]
GO:0016491 [oxidoreductase activity]
GO:0055114 [oxidation-reduction process]
Show all
 507 aa
53.9 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.