(Q21105321)

English

Aldehyde dehydrogenase 18 family member A1

mammalian protein found in Homo sapiens

delta-1-pyrroline-5-carboxylate synthase
Spastic paraplegia-9 (spastic paraparesis with amyotrophy, cataracts and gastroesophageal reflux)
delta1-pyrroline-5-carboxlate synthetase
ALDH18A1
aldehyde dehydrogenase family 18 member A1
delta-1-pyrroline-5-carboxylate synthetase
pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)
spastic paraplegia 9 (autosomal dominant)

In more languages

Statements

1 reference

13 November 2019

UniProt protein ID

Aldehyde/histidinol dehydrogenase

1 reference

InterPro Release 71.0

http://www.ebi.ac.uk/interpro/protein/P54886

Delta l-pyrroline-5-carboxylate synthetase

1 reference

InterPro Release 71.0

http://www.ebi.ac.uk/interpro/protein/P54886

Acetylglutamate kinase-like superfamily

1 reference

InterPro Release 71.0

http://www.ebi.ac.uk/interpro/protein/P54886

Aldehyde dehydrogenase, N-terminal

1 reference

InterPro Release 71.0

http://www.ebi.ac.uk/interpro/protein/P54886

Aldehyde dehydrogenase, C-terminal

1 reference

InterPro Release 71.0

http://www.ebi.ac.uk/interpro/protein/P54886

Aldehyde dehydrogenase domain, protein family

1 reference

based on heuristic

inferred from protein domain or family

Aspartate/glutamate/uridylate kinase family

1 reference

based on heuristic

inferred from protein domain or family

GPR domain, protein family

1 reference

based on heuristic

inferred from protein domain or family

Gamma-glutamyl phosphate reductase GPR, conserved site, protein family

1 reference

based on heuristic

inferred from protein domain or family

Glutamate 5-kinase, conserved site, protein family

1 reference

based on heuristic

inferred from protein domain or family

1 reference

13 November 2019

UniProt protein ID

1 reference

13 November 2019

UniProt protein ID

molecular function

transferase activity

determination method

1 reference

8 April 2019

UniProt protein ID

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P54886

determination method

nucleotide binding

determination method

1 reference

8 April 2019

UniProt protein ID

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P54886

determination method

kinase activity

determination method

1 reference

8 April 2019

UniProt protein ID

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P54886

determination method

protein binding

determination method

1 reference

8 April 2019

A proteome-scale map of the human interactome network

IntAct protein interaction database

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P54886

determination method

determination method

1 reference

8 April 2019

UniProt protein ID

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P54886

determination method

identical protein binding

determination method

1 reference

8 April 2019

ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism

UniProt protein ID

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P54886

determination method

glutamate 5-kinase activity

determination method

5 references

8 April 2019

ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism

UniProt protein ID

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P54886

determination method

8 April 2019

UniProt protein ID

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P54886

determination method

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P54886

determination method

8 April 2019

Ensembl genome database project

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P54886

determination method

8 April 2019

Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase

UniProt protein ID

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P54886

determination method

delta1-pyrroline-5-carboxylate synthetase activity

determination method

1 reference

1 January 2018

Molecular enzymology of mammalian Delta1-pyrroline-5-carboxylate synthase. Alternative splice donor utilization generates isoforms with different sensitivity to ornithine inhibition

http://www.ebi.ac.uk/QuickGO/annotations?protein=P54886&geneProductId=UniProtKB:P54886

determination method

glutamate-5-semialdehyde dehydrogenase activity

determination method

4 references

26 September 2017

ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism

UniProt protein ID

http://www.ebi.ac.uk/QuickGO/annotations?protein=P54886&geneProductId=UniProtKB:P54886

determination method

26 September 2017

UniProt protein ID

http://www.ebi.ac.uk/QuickGO/annotations?protein=P54886&geneProductId=UniProtKB:P54886

determination method

26 September 2017

http://www.ebi.ac.uk/QuickGO/annotations?protein=P54886&geneProductId=UniProtKB:P54886

determination method

26 September 2017

Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase

UniProt protein ID

http://www.ebi.ac.uk/QuickGO/annotations?protein=P54886&geneProductId=UniProtKB:P54886

determination method

determination method

1 reference

26 September 2017

Insights into RNA biology from an atlas of mammalian mRNA-binding proteins

UniProt protein ID

http://www.ebi.ac.uk/QuickGO/annotations?protein=P54886&geneProductId=UniProtKB:P54886

determination method

determination method

1 reference

8 April 2019

Insights into RNA biology from an atlas of mammalian mRNA-binding proteins

UniProt protein ID

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P54886

determination method

glutamate-5-semialdehyde dehydrogenase activity

determination method

5 references

8 April 2019

ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism

UniProt protein ID

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P54886

determination method

8 April 2019

UniProt protein ID

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P54886

determination method

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P54886

determination method

8 April 2019

Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase

UniProt protein ID

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P54886

determination method

8 April 2019

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P54886

determination method

oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor

determination method

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P54886

determination method

determination method

1 reference

8 April 2019

UniProt protein ID

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P54886

determination method

determination method

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P54886

determination method

determination method

5 references

26 September 2017

UniProt protein ID

http://www.ebi.ac.uk/QuickGO/annotations?protein=P54886&geneProductId=UniProtKB:P54886

determination method

26 September 2017

Ensembl genome database project

http://www.ebi.ac.uk/QuickGO/annotations?protein=P54886&geneProductId=UniProtKB:P54886

determination method

26 September 2017

ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism

UniProt protein ID

http://www.ebi.ac.uk/QuickGO/annotations?protein=P54886&geneProductId=UniProtKB:P54886

determination method

26 September 2017

Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa

UniProt protein ID

http://www.ebi.ac.uk/QuickGO/annotations?protein=P54886&geneProductId=UniProtKB:P54886

determination method

26 September 2017

Human Protein Atlas

http://www.ebi.ac.uk/QuickGO/annotations?protein=P54886&geneProductId=UniProtKB:P54886

determination method

determination method

1 reference

8 April 2019

Human Protein Atlas

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P54886

determination method

determination method

5 references

8 April 2019

UniProt protein ID

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P54886

determination method

8 April 2019

Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa

UniProt protein ID

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P54886

determination method

8 April 2019

ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism

UniProt protein ID

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P54886

determination method

8 April 2019

Human Protein Atlas

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P54886

determination method

8 April 2019

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P54886

determination method

biological process

phosphorylation

determination method

1 reference

8 April 2019

UniProt protein ID

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P54886

determination method

proline biosynthetic process

determination method

5 references

8 April 2019

Database cloning human delta 1-pyrroline-5-carboxylate synthetase (P5CS) cDNA: a bifunctional enzyme catalyzing the first 2 steps in proline biosynthesis

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P54886

determination method

8 April 2019

ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism

UniProt protein ID

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P54886

determination method

8 April 2019

Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase

UniProt protein ID

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P54886

determination method

8 April 2019

UniProt protein ID

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P54886

determination method

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P54886

determination method

L-proline biosynthetic process

determination method

1 reference

8 April 2019

UniProt protein ID

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P54886

determination method

glutamate metabolic process

determination method

1 reference

8 April 2019

Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase

UniProt protein ID

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P54886

determination method

determination method

1 reference

8 April 2019

UniProt protein ID

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P54886

determination method

ornithine biosynthetic process

determination method

2 references

8 April 2019

ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism

UniProt protein ID

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P54886

determination method

8 April 2019

Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase

UniProt protein ID

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P54886

determination method

citrulline biosynthetic process

determination method

2 references

8 April 2019

ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism

UniProt protein ID

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P54886

determination method

8 April 2019

Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase

UniProt protein ID

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P54886

determination method

Glutamate 5-kinase, conserved site

1 reference

InterPro Release 71.0

http://www.ebi.ac.uk/interpro/protein/P54886

Aldehyde dehydrogenase domain

1 reference

InterPro Release 71.0

http://www.ebi.ac.uk/interpro/protein/P54886

Aspartate/glutamate/uridylate kinase domain

1 reference

InterPro Release 71.0

http://www.ebi.ac.uk/interpro/protein/P54886

1 reference

InterPro Release 71.0

http://www.ebi.ac.uk/interpro/protein/P54886

Gamma-glutamyl phosphate reductase GPR, conserved site

1 reference

InterPro Release 71.0

http://www.ebi.ac.uk/interpro/protein/P54886

Identifiers

RefSeq protein ID

1 reference

30 May 2020

1 reference

30 May 2020

1 reference

30 May 2020

1 reference

30 May 2020

1 reference

30 May 2020

1 reference

30 May 2020

1 reference

30 May 2020

1 reference

30 May 2020

1 reference

30 May 2020

1 reference

30 May 2020

1 reference

30 May 2020

1 reference

30 May 2020

1 reference

30 May 2020

1 reference

30 May 2020

UniProt protein ID

1 reference

13 November 2019

UniProt protein ID

Ensembl protein ID

ENSP00000360265

1 reference

Ensembl Release 99

Ensembl protein ID

ENSP00000360265

ENSP00000360268

1 reference

Ensembl Release 99

Ensembl protein ID

ENSP00000360268

PDB structure ID

1 reference

UniProt protein ID

4 August 2016

language of work or name

Sitelinks

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