• Gene id: 8659

Gene Summary

• Gene Symbol: ALDH4A1   Gene   UCSC   Ensembl
• Aliases: ALDH4, P5CD, P5CDh
• Gene name: aldehyde dehydrogenase 4 family member A1
• Alternate names: delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial, L-glutamate gamma-semialdehyde dehydrogenase, P5C dehydrogenase, aldehyde dehydrogenase family 4 member A1, epididymis secretory sperm binding protein, mitochondrial delta-1-pyrroline 5-carboxylate ,
• Gene location: 1p36.13 (18902798: 18871429)     Exons: 16     NC_000001.11
• Gene summary(Entrez): This protein belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. D

Protein Summary

• Protein general information: P30038  
  • Name: Delta 1 pyrroline 5 carboxylate dehydrogenase, mitochondrial (P5C dehydrogenase) (EC 1.2.1.88) (Aldehyde dehydrogenase family 4 member A1) (L glutamate gamma semialdehyde dehydrogenase)
  • Length: 563  
  • Mass: 61719
  • Tissue specificity: Highest expression is found in liver followed by skeletal muscle, kidney, heart, brain, placenta, lung and pancreas.
• Sequence:

  MLLPAPALRRALLSRPWTGAGLRWKHTSSLKVANEPVLAFTQGSPERDALQKALKDLKGRMEAIPCVVGDEEVWT
  SDVQYQVSPFNHGHKVAKFCYADKSLLNKAIEAALAARKEWDLKPIADRAQIFLKAADMLSGPRRAEILAKTMVG
  QGKTVIQAEIDAAAELIDFFRFNAKYAVELEGQQPISVPPSTNSTVYRGLEGFVAAISPFNFTAIGGNLAGAPAL
  MGNVVLWKPSDTAMLASYAVYRILREAGLPPNIIQFVPADGPLFGDTVTSSEHLCGINFTGSVPTFKHLWKQVAQ
  NLDRFHTFPRLAGECGGKNFHFVHRSADVESVVSGTLRSAFEYGGQKCSACSRLYVPHSLWPQIKGRLLEEHSRI
  KVGDPAEDFGTFFSAVIDAKSFARIKKWLEHARSSPSLTILAGGKCDDSVGYFVEPCIVESKDPQEPIMKEEIFG
  PVLSVYVYPDDKYKETLQLVDSTTSYGLTGAVFSQDKDVVQEATKVLRNAAGNFYINDKSTGSIVGQQPFGGARA
  SGTNDKPGGPHYILRWTSPQVIKETHKPLGDWSYAYMQ

• Structural information:
  • Interpro: IPR016161  IPR016163  IPR016160  IPR029510  IPR016162   IPR015590  IPR005931  
  • Prosite: PS00070 PS00687
  • CDD: cd07123
  • PDB: 3V9G 3V9H 3V9I 4OE5
  • PDBsum: 3V9G 3V9H 3V9I 4OE5
  • STRING: ENSP00000364490
• Other Databases: GeneCards:  ALDH4A1  Malacards:  ALDH4A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004029	aldehyde dehydrogenase (NAD+) activity	IDA	molecular function
GO:0003842	1-pyrroline-5-carboxylate dehydrogenase activity	IBA	molecular function
GO:0003842	1-pyrroline-5-carboxylate dehydrogenase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0010133	proline catabolic process to glutamate	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:0006560	proline metabolic process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0003842	1-pyrroline-5-carboxylate dehydrogenase activity	TAS	molecular function
GO:0004029	aldehyde dehydrogenase (NAD+) activity	TAS	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0006560	proline metabolic process	TAS	biological process
GO:0006562	proline catabolic process	TAS	biological process
GO:0003842	1-pyrroline-5-carboxylate dehydrogenase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0006562	proline catabolic process	TAS	biological process
GO:0046487	glyoxylate metabolic process	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0003842	1-pyrroline-5-carboxylate dehydrogenase activity	IEA	molecular function
GO:0019470	4-hydroxyproline catabolic process	TAS	biological process
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0022900	electron transport chain	IEA	biological process
GO:0010133	proline catabolic process to glutamate	IEA	biological process
GO:0009055	electron transfer activity	TAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00330	Arginine and proline metabolism
hsa00250	Alanine, aspartate and glutamate metabolism

Diseases

Associated diseases	References
Hyperprolinemia	KEGG:H00190
Hyperprolinemia	KEGG:H00190
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray