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ALDH5A1
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TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation


Dictionary


Tissue proteome

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
SHOW MORE

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
Cerebral cortex
Hippocampus
N/A
Caudate
N/A
Cerebellum
N/A
Endocrine tissues
Thyroid gland
Parathyroid gland
Adrenal gland
Bone marrow & immune system
Appendix
Bone marrow
Lymph node
Tonsil
Spleen
Muscle tissues
Heart muscle
Skeletal muscle
Smooth muscle
Lung
Nasopharynx
N/A
Bronchus
N/A
Lung
Liver & gallbladder
Liver
Gallbladder
Pancreas
Pancreas
Gastrointestinal tract
Oral mucosa
N/A
Salivary gland
Esophagus
Stomach
Duodenum
Small intestine
Colon
Rectum
Kidney & urinary bladder
Kidney
Urinary bladder
Male tissues
Testis
Epididymis
Prostate
Seminal vesicle
Female tissues
Breast
Vagina
N/A
Cervix, uterine
Endometrium
Fallopian tube
Ovary
Placenta
Adipose & soft tissue
Adipose tissue
Soft tissue
N/A
Skin
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW

Organ
Expression
Alphabetical
Cerebral cortexHippocampusCaudateCerebellumThyroid glandParathyroid glandAdrenal glandAppendixBone marrowLymph nodeTonsilSpleenHeart muscleSkeletal muscleSmooth muscleNasopharynxBronchusLungLiverGallbladderPancreasOral mucosaSalivary glandEsophagusStomachDuodenumSmall intestineColonRectumKidneyUrinary bladderTestisEpididymisProstateSeminal vesicleBreastVaginaCervix, uterineEndometriumFallopian tubeOvaryPlacentaAdipose tissueSoft tissueSkinNotdetectedLowMediumHighSCORE

RNA EXPRESSION OVERVIEW

HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
Cerebral cortexThyroid glandParathyroid glandAdrenal glandAppendixBone marrowLymph nodeTonsilSpleenHeart muscleSkeletal muscleSmooth muscleLungLiverGallbladderPancreasSalivary glandEsophagusStomachDuodenumSmall intestineColonRectumKidneyUrinary bladderTestisEpididymisProstateSeminal vesicleBreastCervix, uterineEndometriumFallopian tubeOvaryPlacentaAdipose tissueSkin01020304050TPM
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
HypothalamusPituitary glandCerebral cortexHippocampusCaudateCerebellumThyroid glandAdrenal glandSpleenHeart muscleSkeletal muscleLungLiverPancreasSalivary glandEsophagusStomachSmall intestineColonKidneyUrinary bladderTestisProstateBreastVaginaCervix, uterineEndometriumFallopian tubeOvaryAdipose tissueSkin0510152025RPKM
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
Pituitary glandBrainHippocampusCaudateCerebellumThyroid glandAppendixLymph nodeTonsilSpleenHeart muscleSkeletal muscleSmooth muscleLungLiverGallbladderPancreasSalivary glandEsophagusSmall intestineColonKidneyUrinary bladderTestisEpididymisProstateSeminal vesicleBreastVaginaCervix, uterineEndometriumOvaryPlacentaAdipose tissueRetina020406080100120Tags Per Million

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]
Show all
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
Show all
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

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