ALDH5A1

GENERAL INFORMATION

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Gene name

ALDH5A1

Gene description

Aldehyde dehydrogenase 5 family, member A1

Protein class

Disease related genes
Enzymes
Mitochondrial proteins
Potential drug targets
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

3
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Granular cytoplasmic expression in most tissues.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly consistent with RNA expression data.

Data reliability

Supportive based on 2 antibodies.
HPA029715 , HPA029716
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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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 78.38)

Entrez gene

7915

UniProt

P51649 (UniProt - Evidence at protein level)

neXtProt

NX_P51649

Antibodypedia

ALDH5A1 antibodies


PROTEIN BROWSER

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ENST00000348925
 
ENST00000357578
 
ENST00000491546
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ALDH5A1-001 ENSP00000350191
ENST00000357578
P51649
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Show » Show » 535 57.2 No 0
ALDH5A1-002 ENSP00000314649
ENST00000348925
P51649
Show all »
Show » Show » 548 58.7 No 0
ALDH5A1-003 ENSP00000417687
ENST00000491546
C9J8Q5
Show all »
Show » Show » 507 53.9 No 0