• Gene id: 7915

Gene Summary

• Gene Symbol: ALDH5A1   Gene   UCSC   Ensembl
• Aliases: SSADH, SSDH
• Gene name: aldehyde dehydrogenase 5 family member A1
• Alternate names: succinate-semialdehyde dehydrogenase, mitochondrial, NAD(+)-dependent succinic semialdehyde dehydrogenase, mitochondrial succinate semialdehyde dehydrogenase,
• Gene location: 6p22.3 (24494968: 24537206)     Exons: 11     NC_000006.12
• Gene summary(Entrez): 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 me

Protein Summary

• Protein general information: P51649  
  • Name: Succinate semialdehyde dehydrogenase, mitochondrial (EC 1.2.1.24) (Aldehyde dehydrogenase family 5 member A1) (NAD(+) dependent succinic semialdehyde dehydrogenase)
  • Length: 535  
  • Mass: 57215
  • Tissue specificity: Brain, pancreas, heart, liver, skeletal muscle and kidney. Lower in placenta.
• Sequence:

  MATCIWLRSCGARRLGSTFPGCRLRPRAGGLVPASGPAPGPAQLRCYAGRLAGLSAALLRTDSFVGGRWLPAAAT
  FPVQDPASGAALGMVADCGVREARAAVRAAYEAFCRWREVSAKERSSLLRKWYNLMIQNKDDLARIITAESGKPL
  KEAHGEILYSAFFLEWFSEEARRVYGDIIHTPAKDRRALVLKQPIGVAAVITPWNFPSAMITRKVGAALAAGCTV
  VVKPAEDTPFSALALAELASQAGIPSGVYNVIPCSRKNAKEVGEAICTDPLVSKISFTGSTTTGKILLHHAANSV
  KRVSMELGGLAPFIVFDSANVDQAVAGAMASKFRNTGQTCVCSNQFLVQRGIHDAFVKAFAEAMKKNLRVGNGFE
  EGTTQGPLINEKAVEKVEKQVNDAVSKGATVVTGGKRHQLGKNFFEPTLLCNVTQDMLCTHEETFGPLAPVIKFD
  TEEEAIAIANAADVGLAGYFYSQDPAQIWRVAEQLEVGMVGVNEGLISSVECPFGGVKQSGLGREGSKYGIDEYL
  ELKYVCYGGL

• Structural information:
  • Interpro: IPR016161  IPR016163  IPR016160  IPR029510  IPR016162   IPR015590  IPR010102  
  • Prosite: PS00070 PS00687
  • PDB: 2W8N 2W8O 2W8P 2W8Q 2W8R
  • PDBsum: 2W8N 2W8O 2W8P 2W8Q 2W8R
  • STRING: ENSP00000314649
• Other Databases: GeneCards:  ALDH5A1  Malacards:  ALDH5A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004777	succinate-semialdehyde dehydrogenase (NAD+) activity	IBA	molecular function
GO:0009013	succinate-semialdehyde dehydrogenase [NAD(P)+] activity	IBA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0009013	succinate-semialdehyde dehydrogenase [NAD(P)+] activity	IEA	molecular function
GO:0009450	gamma-aminobutyric acid catabolic process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016620	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0004777	succinate-semialdehyde dehydrogenase (NAD+) activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0004777	succinate-semialdehyde dehydrogenase (NAD+) activity	TAS	molecular function
GO:0009791	post-embryonic development	IEA	biological process
GO:0042135	neurotransmitter catabolic process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0006105	succinate metabolic process	IEA	biological process
GO:0006536	glutamate metabolic process	IEA	biological process
GO:0009448	gamma-aminobutyric acid metabolic process	IEA	biological process
GO:0009450	gamma-aminobutyric acid catabolic process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0009450	gamma-aminobutyric acid catabolic process	IEA	biological process
GO:0004777	succinate-semialdehyde dehydrogenase (NAD+) activity	IDA	molecular function
GO:0009450	gamma-aminobutyric acid catabolic process	IDA	biological process
GO:0004777	succinate-semialdehyde dehydrogenase (NAD+) activity	IDA	molecular function
GO:0005739	mitochondrion	HDA	cellular component
GO:0007417	central nervous system development	IMP	biological process
GO:0004777	succinate-semialdehyde dehydrogenase (NAD+) activity	ISS	molecular function
GO:0009450	gamma-aminobutyric acid catabolic process	IMP	biological process
GO:0006105	succinate metabolic process	ISS	biological process
GO:0042135	neurotransmitter catabolic process	ISS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0006536	glutamate metabolic process	ISS	biological process
GO:0005739	mitochondrion	ISS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00250	Alanine, aspartate and glutamate metabolism
hsa00650	Butanoate metabolism

Diseases

Associated diseases	References
Succinic semialdehyde dehydrogenase deficiency	KEGG:H00835
Succinic semialdehyde dehydrogenase deficiency	KEGG:H00835
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881