• Gene id: 223

Gene Summary

• Gene Symbol: ALDH9A1   Gene   UCSC   Ensembl
• Aliases: ALDH4, ALDH7, ALDH9, E3, TMABA-DH, TMABADH, TMABALDH
• Gene name: aldehyde dehydrogenase 9 family member A1
• Alternate names: 4-trimethylaminobutyraldehyde dehydrogenase, R-aminobutyraldehyde dehydrogenase, aldehyde dehydrogenase (NAD+), aldehyde dehydrogenase E3 isozyme, aldehyde dehydrogenase family 9 member A1, gamma-aminobutyraldehyde dehydrogenase,
• Gene location: 1q24.1 (165698662: 165662211)     Exons: 11     NC_000001.11
• Gene summary(Entrez): This protein belongs to the aldehyde dehydrogenase family of proteins. It has a high activity for oxidation of gamma-aminobutyraldehyde and other amino aldehydes. The enzyme catalyzes the dehydrogenation of gamma-aminobutyraldehyde to gamma-aminobutyric a
• OMIM: 602733

Protein Summary

• Protein general information: P49189  
  • Name: 4 trimethylaminobutyraldehyde dehydrogenase (TMABA DH) (TMABALDH) (EC 1.2.1.47) (Aldehyde dehydrogenase E3 isozyme) (Aldehyde dehydrogenase family 9 member A1) (EC 1.2.1.3) (Gamma aminobutyraldehyde dehydrogenase) (EC 1.2.1.19) (R aminobutyraldehyde dehyd
  • Length: 494  
  • Mass: 53802
  • Tissue specificity: Detected in brain (at protein level) (PubMed
• Sequence:

  MSTGTFVVSQPLNYRGGARVEPADASGTEKAFEPATGRVIATFTCSGEKEVNLAVQNAKAAFKIWSQKSGMERCR
  ILLEAARIIREREDEIATMECINNGKSIFEARLDIDISWQCLEYYAGLAASMAGEHIQLPGGSFGYTRREPLGVC
  VGIGAWNYPFQIASWKSAPALACGNAMVFKPSPFTPVSALLLAEIYSEAGVPPGLFNVVQGGAATGQFLCQHPDV
  AKVSFTGSVPTGMKIMEMSAKGIKPVTLELGGKSPLIIFSDCDMNNAVKGALMANFLTQGQVCCNGTRVFVQKEI
  LDKFTEEVVKQTQRIKIGDPLLEDTRMGPLINRPHLERVLGFVKVAKEQGAKVLCGGDIYVPEDPKLKDGYYMRP
  CVLTNCRDDMTCVKEEIFGPVMSILSFDTEAEVLERANDTTFGLAAGVFTRDIQRAHRVVAELQAGTCFINNYNV
  SPVELPFGGYKKSGFGRENGRVTIEYYSQLKTVCVEMGDVESAF

• Structural information:
  • Interpro: IPR016161  IPR016163  IPR016160  IPR029510  IPR016162   IPR015590  
  • Prosite: PS00070 PS00687
  • PDB: 6QAK 6QAO 6QAP
  • PDBsum: 6QAK 6QAO 6QAP
  • STRING: ENSP00000346827
• Other Databases: GeneCards:  ALDH9A1  Malacards:  ALDH9A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004029	aldehyde dehydrogenase (NAD+) activity	IBA	molecular function
GO:0047105	4-trimethylammoniobutyraldehyde dehydrogenase activity	IBA	molecular function
GO:0019145	aminobutyraldehyde dehydrogenase activity	IBA	molecular function
GO:0004029	aldehyde dehydrogenase (NAD+) activity	IDA	molecular function
GO:0051289	protein homotetramerization	IDA	biological process
GO:0006081	cellular aldehyde metabolic process	IDA	biological process
GO:0047105	4-trimethylammoniobutyraldehyde dehydrogenase activity	IDA	molecular function
GO:0055114	oxidation-reduction 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:0016491	oxidoreductase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0004029	aldehyde dehydrogenase (NAD+) activity	IEA	molecular function
GO:0033737	1-pyrroline dehydrogenase activity	IEA	molecular function
GO:0019145	aminobutyraldehyde dehydrogenase activity	IEA	molecular function
GO:0043878	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity	IEA	molecular function
GO:0047105	4-trimethylammoniobutyraldehyde dehydrogenase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0045329	carnitine biosynthetic process	TAS	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0045329	carnitine biosynthetic process	IEA	biological process
GO:0006081	cellular aldehyde metabolic process	IDA	biological process
GO:0019145	aminobutyraldehyde dehydrogenase activity	IDA	molecular function
GO:0019145	aminobutyraldehyde dehydrogenase activity	IDA	molecular function
GO:0055114	oxidation-reduction process	IDA	biological process
GO:0042136	neurotransmitter biosynthetic process	IDA	biological process
GO:0004029	aldehyde dehydrogenase (NAD+) activity	IDA	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0042445	hormone metabolic process	TAS	biological process
GO:0005737	cytoplasm	TAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00561	Glycerolipid metabolism
hsa00310	Lysine degradation
hsa00010	Glycolysis / Gluconeogenesis
hsa00280	Valine, leucine and isoleucine degradation
hsa00071	Fatty acid degradation
hsa00330	Arginine and proline metabolism
hsa00620	Pyruvate metabolism
hsa00410	beta-Alanine metabolism
hsa00380	Tryptophan metabolism
hsa00053	Ascorbate and aldarate metabolism
hsa00340	Histidine metabolism

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray