• Gene id: 216

Gene Summary

• Gene Symbol: ALDH1A1   Gene   UCSC   Ensembl
• Aliases: ALDC, ALDH-E1, ALDH1, ALDH11, HEL-9, HEL-S-53e, HEL12, PUMB1, RALDH1
• Gene name: aldehyde dehydrogenase 1 family member A1
• Alternate names: retinal dehydrogenase 1, ALDH class 1, ALHDII, RALDH 1, acetaldehyde dehydrogenase 1, aldehyde dehydrogenase 1, soluble, aldehyde dehydrogenase, liver cytosolic, epididymis luminal protein 12, epididymis luminal protein 9, epididymis secretory sperm binding protei,
• Gene location: 9q21.13 (72953052: 72900670)     Exons: 13     NC_000009.12
• Gene summary(Entrez): The protein encoded by this gene belongs to the aldehyde dehydrogenase family. Aldehyde dehydrogenase is the next enzyme after alcohol dehydrogenase in the major pathway of alcohol metabolism. There are two major aldehyde dehydrogenase isozymes in the liv
• OMIM: 118970

Protein Summary

• Protein general information: P00352  
  • Name: Retinal dehydrogenase 1 (RALDH 1) (RalDH1) (EC 1.2.1. ) (EC 1.2.1.36) (ALDH E1) (ALHDII) (Aldehyde dehydrogenase family 1 member A1) (Aldehyde dehydrogenase, cytosolic)
  • Length: 501  
  • Mass: 54862
• Sequence:

  MSSSGTPDLPVLLTDLKIQYTKIFINNEWHDSVSGKKFPVFNPATEEELCQVEEGDKEDVDKAVKAARQAFQIGS
  PWRTMDASERGRLLYKLADLIERDRLLLATMESMNGGKLYSNAYLNDLAGCIKTLRYCAGWADKIQGRTIPIDGN
  FFTYTRHEPIGVCGQIIPWNFPLVMLIWKIGPALSCGNTVVVKPAEQTPLTALHVASLIKEAGFPPGVVNIVPGY
  GPTAGAAISSHMDIDKVAFTGSTEVGKLIKEAAGKSNLKRVTLELGGKSPCIVLADADLDNAVEFAHHGVFYHQG
  QCCIAASRIFVEESIYDEFVRRSVERAKKYILGNPLTPGVTQGPQIDKEQYDKILDLIESGKKEGAKLECGGGPW
  GNKGYFVQPTVFSNVTDEMRIAKEEIFGPVQQIMKFKSLDDVIKRANNTFYGLSAGVFTKDIDKAITISSALQAG
  TVWVNCYGVVSAQCPFGGFKMSGNGRELGEYGFHEYTEVKTVTVKISQKNS

• Structural information:
  • Interpro: IPR016161  IPR016163  IPR016160  IPR029510  IPR016162   IPR015590  
  • Prosite: PS00070 PS00687
  • PDB: 4WB9 4WJ9 4WP7 4WPN 4X4L 5AC2 5L2M 5L2N 5L2O 5TEI 6DUM
  • PDBsum: 4WB9 4WJ9 4WP7 4WPN 4X4L 5AC2 5L2M 5L2N 5L2O 5TEI 6DUM
  • STRING: ENSP00000297785
• Other Databases: GeneCards:  ALDH1A1  Malacards:  ALDH1A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004029	aldehyde dehydrogenase (NAD+) activity	IDA	molecular function
GO:0018479	benzaldehyde dehydrogenase (NAD+) activity	IBA	molecular function
GO:0004029	aldehyde dehydrogenase (NAD+) activity	IBA	molecular function
GO:0055114	oxidation-reduction process	IDA	biological process
GO:0004029	aldehyde dehydrogenase (NAD+) activity	IDA	molecular function
GO:0005829	cytosol	ISS	cellular component
GO:0001758	retinal dehydrogenase activity	ISS	molecular function
GO:0001523	retinoid metabolic process	ISS	biological process
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:0000166	nucleotide binding	IEA	molecular function
GO:0004029	aldehyde dehydrogenase (NAD+) activity	TAS	molecular function
GO:0005497	androgen binding	TAS	molecular function
GO:0005737	cytoplasm	TAS	cellular component
GO:0006081	cellular aldehyde metabolic process	TAS	biological process
GO:0001758	retinal dehydrogenase activity	IEA	molecular function
GO:0006069	ethanol oxidation	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0061624	fructose catabolic process to hydroxyacetone phosphate and glyceraldehyde-3-phosphate	TAS	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0120163	negative regulation of cold-induced thermogenesis	ISS	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0042572	retinol metabolic process	IEA	biological process
GO:0051287	NAD binding	ISS	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005096	GTPase activator activity	TAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00830	Retinol metabolism

Diseases

Associated diseases	References
pancreatic cancer	PMID:19216797
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