• Gene id: 5832

Gene Summary

• Gene Symbol: ALDH18A1   Gene   UCSC   Ensembl
• Aliases: ADCL3, ARCL3A, GSAS, P5CS, PYCS, SPG9, SPG9A, SPG9B
• Gene name: aldehyde dehydrogenase 18 family member A1
• Alternate names: delta-1-pyrroline-5-carboxylate synthase, Spastic paraplegia-9 (spastic paraparesis with amyotrophy, cataracts and gastroesophageal reflux), aldehyde dehydrogenase family 18 member A1, delta-1-pyrroline-5-carboxylate synthetase, delta1-pyrroline-5-carboxlate ,
• Gene location: 10q24.1 (95656900: 95605937)     Exons: 17     NC_000010.11
• Gene summary(Entrez): This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities. The encoded protein catalyzes the reduct
• OMIM: 138250

Protein Summary

• Protein general information: P54886  
  • Name: Delta 1 pyrroline 5 carboxylate synthase (P5CS) (Aldehyde dehydrogenase family 18 member A1) [Includes: Glutamate 5 kinase (GK) (EC 2.7.2.11) (Gamma glutamyl kinase); Gamma glutamyl phosphate reductase (GPR) (EC 1.2.1.41) (Glutamate 5 semialdehyde dehydro
  • Length: 795  
  • Mass: 87302
• Sequence:

  MLSQVYRCGFQPFNQHLLPWVKCTTVFRSHCIQPSVIRHVRSWSNIPFITVPLSRTHGKSFAHRSELKHAKRIVV
  KLGSAVVTRGDECGLALGRLASIVEQVSVLQNQGREMMLVTSGAVAFGKQRLRHEILLSQSVRQALHSGQNQLKE
  MAIPVLEARACAAAGQSGLMALYEAMFTQYSICAAQILVTNLDFHDEQKRRNLNGTLHELLRMNIVPIVNTNDAV
  VPPAEPNSDLQGVNVISVKDNDSLAARLAVEMKTDLLIVLSDVEGLFDSPPGSDDAKLIDIFYPGDQQSVTFGTK
  SRVGMGGMEAKVKAALWALQGGTSVVIANGTHPKVSGHVITDIVEGKKVGTFFSEVKPAGPTVEQQGEMARSGGR
  MLATLEPEQRAEIIHHLADLLTDQRDEILLANKKDLEEAEGRLAAPLLKRLSLSTSKLNSLAIGLRQIAASSQDS
  VGRVLRRTRIAKNLELEQVTVPIGVLLVIFESRPDCLPQVAALAIASGNGLLLKGGKEAAHSNRILHLLTQEALS
  IHGVKEAVQLVNTREEVEDLCRLDKMIDLIIPRGSSQLVRDIQKAAKGIPVMGHSEGICHMYVDSEASVDKVTRL
  VRDSKCEYPAACNALETLLIHRDLLRTPLFDQIIDMLRVEQVKIHAGPKFASYLTFSPSEVKSLRTEYGDLELCI
  EVVDNVQDAIDHIHKYGSSHTDVIVTEDENTAEFFLQHVDSACVFWNASTRFSDGYRFGLGAEVGISTSRIHARG
  PVGLEGLLTTKWLLRGKDHVVSDFSEHGSLKYLHENLPIPQRNTN

• Structural information:
  • Interpro: IPR036393  IPR016161  IPR016163  IPR016162  IPR015590   IPR001048  IPR020593  IPR041744  IPR001057  IPR005715  IPR019797  IPR000965  IPR005766  
  • Prosite: PS00902 PS01223
  • CDD: cd04256 cd07079
  • PDB: 2H5G
  • PDBsum: 2H5G
  • STRING: ENSP00000360268
• Other Databases: GeneCards:  ALDH18A1  Malacards:  ALDH18A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005739	mitochondrion	IBA	cellular component
GO:0004350	glutamate-5-semialdehyde dehydrogenase activity	IBA	molecular function
GO:0004350	glutamate-5-semialdehyde dehydrogenase activity	IDA	molecular function
GO:0004349	glutamate 5-kinase activity	IDA	molecular function
GO:0005739	mitochondrion	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0042802	identical protein binding	IDA	molecular function
GO:0019240	citrulline biosynthetic process	IMP	biological process
GO:0006592	ornithine biosynthetic process	IMP	biological process
GO:0006592	ornithine biosynthetic process	IMP	biological process
GO:0019240	citrulline biosynthetic process	IMP	biological process
GO:0006561	proline biosynthetic process	IMP	biological process
GO:0006536	glutamate metabolic process	IMP	biological process
GO:0004349	glutamate 5-kinase activity	IMP	molecular function
GO:0006561	proline biosynthetic process	IMP	biological process
GO:0004350	glutamate-5-semialdehyde dehydrogenase activity	IMP	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0004349	glutamate 5-kinase activity	IEA	molecular function
GO:0004350	glutamate-5-semialdehyde dehydrogenase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0006561	proline biosynthetic 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:0016301	kinase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0008152	metabolic process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0008652	cellular amino acid biosynthetic process	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0006561	proline biosynthetic process	IEA	biological process
GO:0006561	proline biosynthetic process	TAS	biological process
GO:0004349	glutamate 5-kinase activity	IEA	molecular function
GO:0004350	glutamate-5-semialdehyde dehydrogenase activity	IEA	molecular function
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0008652	cellular amino acid biosynthetic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004349	glutamate 5-kinase activity	IEA	molecular function
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0055129	L-proline biosynthetic process	IEA	biological process
GO:0003723	RNA binding	HDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01230	Biosynthesis of amino acids
hsa00330	Arginine and proline metabolism

Diseases

Associated diseases	References
Hereditary spastic paraplegia	KEGG:H00266
Secondary hyperammonemia	KEGG:H01400
Cutis laxa	KEGG:H00557
Hereditary spastic paraplegia	KEGG:H00266
Secondary hyperammonemia	KEGG:H01400
Cutis laxa	KEGG:H00557
Autosomal recessive cutis laxa type III	PMID:26320891
hereditary spastic paraplegia 9A	PMID:26297558
Hereditary spastic paraplegia	PMID:26026163
Cataract	PMID:26320891
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881