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aldehyde dehydrogenase 5 family member A1

Summary

Gene Symbol

ALDH5A1

Aliases

SSADH
SSDH
succinate-semialdehyde dehydrogenase

Organism

Homo sapiens (human)

External Links

NCBI Gene

7915

HGNC

408

KEGG Gene ID

hsa:7915

PubChem

7915

Alliance of Genome Resources

HGNC:408

Annotation

Keyword

3D-structure
Acetylation
Alternative splicing
Disease variant
Disulfide bond
Mitochondrion
NAD
Oxidoreductase
Phosphoprotein
Reference proteome
Transit peptide

Proteins

Displaying **all 3** entries
UniProt	Protein Name
P51649	Aldehyde dehydrogenase family 5 member A1 NAD(+)-dependent succinic semialdehyde dehydrogenase
X5DQN2
X5D299

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 6 in total

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GO Term	Evidence Code	PMID
synaptic transmission, GABAergic	IEA
succinate metabolic process	ISS
central nervous system development	IMP	9683595
post-embryonic development	IEA
glutamate metabolic process	ISS

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

amide metabolic process [inference]

glutamate metabolic process

organonitrogen compound metabolic process [inference]

amino acid metabolic process [inference]

amino acid catabolic process [inference]

gamma-aminobutyric acid catabolic process

gamma-aminobutyric acid metabolic process [inference]

gamma-aminobutyric acid catabolic process

alpha-amino acid metabolic process [inference]

glutamine family amino acid metabolic process [inference]

glutamate metabolic process

organonitrogen compound catabolic process [inference]

amino acid catabolic process [inference]

gamma-aminobutyric acid catabolic process

catabolic process [inference]

cellular catabolic process [inference]

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

amino acid catabolic process [inference]

gamma-aminobutyric acid catabolic process

small molecule catabolic process [inference]

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

amino acid catabolic process [inference]

gamma-aminobutyric acid catabolic process

organic substance catabolic process [inference]

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

amino acid catabolic process [inference]

gamma-aminobutyric acid catabolic process

organonitrogen compound catabolic process [inference]

amino acid catabolic process [inference]

gamma-aminobutyric acid catabolic process

cellular metabolic process [inference]

organic acid metabolic process [inference]

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

amino acid catabolic process [inference]

gamma-aminobutyric acid catabolic process

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

amino acid metabolic process [inference]

amino acid catabolic process [inference]

gamma-aminobutyric acid catabolic process

gamma-aminobutyric acid metabolic process [inference]

gamma-aminobutyric acid catabolic process

alpha-amino acid metabolic process [inference]

glutamine family amino acid metabolic process [inference]

glutamate metabolic process

monocarboxylic acid metabolic process [inference]

gamma-aminobutyric acid metabolic process [inference]

gamma-aminobutyric acid catabolic process

dicarboxylic acid metabolic process [inference]

carboxylic acid catabolic process [inference]

amino acid catabolic process [inference]

gamma-aminobutyric acid catabolic process

cellular catabolic process [inference]

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

amino acid catabolic process [inference]

gamma-aminobutyric acid catabolic process

primary metabolic process [inference]

amino acid metabolic process [inference]

amino acid catabolic process [inference]

gamma-aminobutyric acid catabolic process

gamma-aminobutyric acid metabolic process [inference]

gamma-aminobutyric acid catabolic process

alpha-amino acid metabolic process [inference]

glutamine family amino acid metabolic process [inference]

glutamate metabolic process

small molecule metabolic process [inference]

organic acid metabolic process [inference]

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

amino acid catabolic process [inference]

gamma-aminobutyric acid catabolic process

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

amino acid metabolic process [inference]

amino acid catabolic process [inference]

gamma-aminobutyric acid catabolic process

gamma-aminobutyric acid metabolic process [inference]

gamma-aminobutyric acid catabolic process

alpha-amino acid metabolic process [inference]

glutamine family amino acid metabolic process [inference]

glutamate metabolic process

monocarboxylic acid metabolic process [inference]

gamma-aminobutyric acid metabolic process [inference]

gamma-aminobutyric acid catabolic process

dicarboxylic acid metabolic process [inference]

carboxylic acid catabolic process [inference]

amino acid catabolic process [inference]

gamma-aminobutyric acid catabolic process

small molecule catabolic process [inference]

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

amino acid catabolic process [inference]

gamma-aminobutyric acid catabolic process

organic substance metabolic process [inference]

organic acid metabolic process [inference]

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

amino acid catabolic process [inference]

gamma-aminobutyric acid catabolic process

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

amino acid metabolic process [inference]

amino acid catabolic process [inference]

gamma-aminobutyric acid catabolic process

gamma-aminobutyric acid metabolic process [inference]

gamma-aminobutyric acid catabolic process

alpha-amino acid metabolic process [inference]

glutamine family amino acid metabolic process [inference]

glutamate metabolic process

monocarboxylic acid metabolic process [inference]

gamma-aminobutyric acid metabolic process [inference]

gamma-aminobutyric acid catabolic process

dicarboxylic acid metabolic process [inference]

carboxylic acid catabolic process [inference]

amino acid catabolic process [inference]

gamma-aminobutyric acid catabolic process

organonitrogen compound metabolic process [inference]

amino acid metabolic process [inference]

amino acid catabolic process [inference]

gamma-aminobutyric acid catabolic process

gamma-aminobutyric acid metabolic process [inference]

gamma-aminobutyric acid catabolic process

alpha-amino acid metabolic process [inference]

glutamine family amino acid metabolic process [inference]

glutamate metabolic process

organonitrogen compound catabolic process [inference]

amino acid catabolic process [inference]

gamma-aminobutyric acid catabolic process

organic substance catabolic process [inference]

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

amino acid catabolic process [inference]

gamma-aminobutyric acid catabolic process

organonitrogen compound catabolic process [inference]

amino acid catabolic process [inference]

gamma-aminobutyric acid catabolic process

cellular process [inference]

cell communication [inference]

cell-cell signaling [inference]

synaptic signaling [inference]

trans-synaptic signaling [inference]

anterograde trans-synaptic signaling [inference]

chemical synaptic transmission [inference]

synaptic transmission, GABAergic

cellular metabolic process [inference]

organic acid metabolic process [inference]

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

amino acid catabolic process [inference]

gamma-aminobutyric acid catabolic process

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

amino acid metabolic process [inference]

amino acid catabolic process [inference]

gamma-aminobutyric acid catabolic process

gamma-aminobutyric acid metabolic process [inference]

gamma-aminobutyric acid catabolic process

alpha-amino acid metabolic process [inference]

glutamine family amino acid metabolic process [inference]

glutamate metabolic process

monocarboxylic acid metabolic process [inference]

gamma-aminobutyric acid metabolic process [inference]

gamma-aminobutyric acid catabolic process

dicarboxylic acid metabolic process [inference]

carboxylic acid catabolic process [inference]

amino acid catabolic process [inference]

gamma-aminobutyric acid catabolic process

cellular catabolic process [inference]

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

amino acid catabolic process [inference]

gamma-aminobutyric acid catabolic process

multicellular organismal process [inference]

post-embryonic development

developmental process [inference]

anatomical structure development [inference]

system development [inference]

central nervous system development

biological regulation [inference]

regulation of biological process [inference]

signaling [inference]

cell-cell signaling [inference]

synaptic signaling [inference]

trans-synaptic signaling [inference]

anterograde trans-synaptic signaling [inference]

chemical synaptic transmission [inference]

synaptic transmission, GABAergic

Displaying **all 3** entries
GO Term	Evidence Code	PMID
synapse	IEA
mitochondrial matrix
mitochondrion	HDA IBA IDA ISS	20833797

GO Hierarchy

cellular component

cellular anatomical entity [inference]

cell junction [inference]

synapse

membrane-enclosed lumen [inference]

organelle lumen [inference]

intracellular organelle lumen [inference]

mitochondrial matrix

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

mitochondrion

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

mitochondrion

Displaying **all 2** entries
GO Term	Evidence Code	PMID
succinate-semialdehyde dehydrogenase (NAD+) activity	IBA IDA ISS	16199352 7814412 9683595
identical protein binding	IPI	16199352

GO Hierarchy

molecular function

catalytic activity [inference]

oxidoreductase activity [inference]

oxidoreductase activity, acting on the aldehyde or oxo group of donors [inference]

oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor [inference]

succinate-semialdehyde dehydrogenase [NAD(P)+] activity [inference]

succinate-semialdehyde dehydrogenase (NAD+) activity

binding [inference]

protein binding [inference]

identical protein binding

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000112294

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

KEGG BRITE Database

Orthology

K00139

Name

succinate-semialdehyde dehydrogenase [EC:1.2.1.24]

References

7814412

Rhea

RHEA:13217

H₂O + NAD⁺ + succinate semialdehyde

H⁺ + succinate + NADH

Enzyme

PMID

Disease

Disease Ontology

Displaying entries **51 - 57** of 57 in total

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DO ID	Disease Name	Source
DOID:8577	ulcerative colitis	DisGeNET
DOID:8778	Crohn's disease	DisGeNET
DOID:8927	learning disability	DisGeNET DisGeNET
DOID:9306	mechanical strabismus	DisGeNET
DOID:9837	hypertropia	DisGeNET
DOID:9854	lingual-facial-buccal dyskinesia	DisGeNET
DOID:9923	developmental coordination disorder	DisGeNET

The Human Phenotype Ontology

Displaying entries **1 - 10** of 32 in total

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000496	Abnormality of eye movement
HP:0000708	Atypical behavior
HP:0000709	Psychosis
HP:0000717	Autism
HP:0000718	Aggressive behavior
HP:0000738	Hallucinations
HP:0000739	Anxiety
HP:0000750	Delayed speech and language development
HP:0000752	Hyperactivity

Displaying **all 2** entries
Disease ID	Disease Name
OMIM:271980	succinic semialdehyde dehydrogenase deficiency
ORPHA:22	succinic semialdehyde dehydrogenase deficiency

PubChem Disease

GHR Health Conditions

Succinic semialdehyde dehydrogenase deficiency

MedGen Diseases

Succinate-semialdehyde dehydrogenase deficiency

OMIM Phenotypes

SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY; SSADHD

KEGG Diseases

Succinic semialdehyde dehydrogenase deficiency

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

Ortholog

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Caenorhabditis elegans	174991	WB:WBGene00000113
Drosophila melanogaster	43092	FB:FBgn0039349
Latimeria chalumnae	102345816		LATCH02059
Danio rerio	565235	ZFIN:ZDB-GENE-070228-2	DANRE10688
Ictalurus punctatus	108270702		ICTPU14417
Electrophorus electricus	113572513		ELEEL03609
Salmo salar	106605473		SALSA124498
Salmo trutta	115179688		SALTR43568
Gadus morhua	115545116		GADMO51264
Oreochromis niloticus	100695178		ORENI01879

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements