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aldehyde dehydrogenase 18 family member A1

Summary

Gene Symbol

ALDH18A1

Organism

Homo sapiens (human)

External Links

NCBI Gene

5832

PubChem

5832

Alliance of Genome Resources

HGNC:9722

Annotation

Keyword

3D-structure
ATP-binding
Alternative splicing
Disease variant
Hereditary spastic paraplegia
Intellectual disability
Kinase
Mitochondrion inner membrane
Multifunctional enzyme
NADP
Oxidoreductase
Proline biosynthesis
Reference proteome

Proteins

Displaying 1 entry
UniProt	Protein Name
P54886	Aldehyde dehydrogenase family 18 member A1

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 7 in total

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GO Term	Evidence Code	PMID
glutamate metabolic process	IMP	11092761
proline biosynthetic process	IMP	11092761 26297558
ornithine biosynthetic process	IMP	11092761 26297558
response to temperature stimulus	IEA
phosphorylation

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

amide metabolic process [inference]

glutamate metabolic process

organonitrogen compound metabolic process [inference]

amino acid metabolic process [inference]

amino acid biosynthetic process [inference]

alpha-amino acid biosynthetic process [inference]

ornithine biosynthetic process

glutamine family amino acid biosynthetic process [inference]

proline biosynthetic process

L-proline biosynthetic process

citrulline biosynthetic process

alpha-amino acid metabolic process [inference]

citrulline metabolic process [inference]

citrulline biosynthetic process

ornithine metabolic process [inference]

ornithine biosynthetic process

glutamine family amino acid metabolic process [inference]

glutamate metabolic process

proline metabolic process [inference]

proline biosynthetic process

L-proline biosynthetic process

glutamine family amino acid biosynthetic process [inference]

proline biosynthetic process

L-proline biosynthetic process

alpha-amino acid biosynthetic process [inference]

ornithine biosynthetic process

glutamine family amino acid biosynthetic process [inference]

proline biosynthetic process

L-proline biosynthetic process

citrulline biosynthetic process

organonitrogen compound biosynthetic process [inference]

amino acid biosynthetic process [inference]

alpha-amino acid biosynthetic process [inference]

ornithine biosynthetic process

glutamine family amino acid biosynthetic process [inference]

proline biosynthetic process

L-proline biosynthetic process

citrulline biosynthetic process

biosynthetic process [inference]

cellular biosynthetic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

amino acid biosynthetic process [inference]

alpha-amino acid biosynthetic process [inference]

ornithine biosynthetic process

glutamine family amino acid biosynthetic process [inference]

proline biosynthetic process

L-proline biosynthetic process

citrulline biosynthetic process

heterocycle biosynthetic process [inference]

L-proline biosynthetic process

small molecule biosynthetic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

amino acid biosynthetic process [inference]

alpha-amino acid biosynthetic process [inference]

ornithine biosynthetic process

glutamine family amino acid biosynthetic process [inference]

proline biosynthetic process

L-proline biosynthetic process

citrulline biosynthetic process

organic substance biosynthetic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

amino acid biosynthetic process [inference]

alpha-amino acid biosynthetic process [inference]

ornithine biosynthetic process

glutamine family amino acid biosynthetic process [inference]

proline biosynthetic process

L-proline biosynthetic process

citrulline biosynthetic process

organic cyclic compound biosynthetic process [inference]

L-proline biosynthetic process

organonitrogen compound biosynthetic process [inference]

amino acid biosynthetic process [inference]

alpha-amino acid biosynthetic process [inference]

ornithine biosynthetic process

glutamine family amino acid biosynthetic process [inference]

proline biosynthetic process

L-proline biosynthetic process

citrulline biosynthetic process

cellular metabolic process [inference]

organic acid metabolic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

amino acid biosynthetic process [inference]

alpha-amino acid biosynthetic process [inference]

ornithine biosynthetic process

glutamine family amino acid biosynthetic process [inference]

proline biosynthetic process

L-proline biosynthetic process

citrulline biosynthetic process

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

amino acid metabolic process [inference]

amino acid biosynthetic process [inference]

alpha-amino acid biosynthetic process [inference]

ornithine biosynthetic process

glutamine family amino acid biosynthetic process [inference]

proline biosynthetic process

L-proline biosynthetic process

citrulline biosynthetic process

alpha-amino acid metabolic process [inference]

citrulline metabolic process [inference]

citrulline biosynthetic process

ornithine metabolic process [inference]

ornithine biosynthetic process

glutamine family amino acid metabolic process [inference]

glutamate metabolic process

proline metabolic process [inference]

proline biosynthetic process

L-proline biosynthetic process

glutamine family amino acid biosynthetic process [inference]

proline biosynthetic process

L-proline biosynthetic process

alpha-amino acid biosynthetic process [inference]

ornithine biosynthetic process

glutamine family amino acid biosynthetic process [inference]

proline biosynthetic process

L-proline biosynthetic process

citrulline biosynthetic process

dicarboxylic acid metabolic process [inference]

glutamate metabolic process

carboxylic acid biosynthetic process [inference]

amino acid biosynthetic process [inference]

alpha-amino acid biosynthetic process [inference]

ornithine biosynthetic process

glutamine family amino acid biosynthetic process [inference]

proline biosynthetic process

L-proline biosynthetic process

citrulline biosynthetic process

phosphorus metabolic process [inference]

phosphate-containing compound metabolic process [inference]

phosphorylation

cellular biosynthetic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

amino acid biosynthetic process [inference]

alpha-amino acid biosynthetic process [inference]

ornithine biosynthetic process

glutamine family amino acid biosynthetic process [inference]

proline biosynthetic process

L-proline biosynthetic process

citrulline biosynthetic process

heterocycle biosynthetic process [inference]

L-proline biosynthetic process

heterocycle metabolic process [inference]

heterocycle biosynthetic process [inference]

L-proline biosynthetic process

primary metabolic process [inference]

amino acid metabolic process [inference]

amino acid biosynthetic process [inference]

alpha-amino acid biosynthetic process [inference]

ornithine biosynthetic process

glutamine family amino acid biosynthetic process [inference]

proline biosynthetic process

L-proline biosynthetic process

citrulline biosynthetic process

alpha-amino acid metabolic process [inference]

citrulline metabolic process [inference]

citrulline biosynthetic process

ornithine metabolic process [inference]

ornithine biosynthetic process

glutamine family amino acid metabolic process [inference]

glutamate metabolic process

proline metabolic process [inference]

proline biosynthetic process

L-proline biosynthetic process

glutamine family amino acid biosynthetic process [inference]

proline biosynthetic process

L-proline biosynthetic process

alpha-amino acid biosynthetic process [inference]

ornithine biosynthetic process

glutamine family amino acid biosynthetic process [inference]

proline biosynthetic process

L-proline biosynthetic process

citrulline biosynthetic process

small molecule metabolic process [inference]

organic acid metabolic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

amino acid biosynthetic process [inference]

alpha-amino acid biosynthetic process [inference]

ornithine biosynthetic process

glutamine family amino acid biosynthetic process [inference]

proline biosynthetic process

L-proline biosynthetic process

citrulline biosynthetic process

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

amino acid metabolic process [inference]

amino acid biosynthetic process [inference]

alpha-amino acid biosynthetic process [inference]

ornithine biosynthetic process

glutamine family amino acid biosynthetic process [inference]

proline biosynthetic process

L-proline biosynthetic process

citrulline biosynthetic process

alpha-amino acid metabolic process [inference]

citrulline metabolic process [inference]

citrulline biosynthetic process

ornithine metabolic process [inference]

ornithine biosynthetic process

glutamine family amino acid metabolic process [inference]

glutamate metabolic process

proline metabolic process [inference]

proline biosynthetic process

L-proline biosynthetic process

glutamine family amino acid biosynthetic process [inference]

proline biosynthetic process

L-proline biosynthetic process

alpha-amino acid biosynthetic process [inference]

ornithine biosynthetic process

glutamine family amino acid biosynthetic process [inference]

proline biosynthetic process

L-proline biosynthetic process

citrulline biosynthetic process

dicarboxylic acid metabolic process [inference]

glutamate metabolic process

carboxylic acid biosynthetic process [inference]

amino acid biosynthetic process [inference]

alpha-amino acid biosynthetic process [inference]

ornithine biosynthetic process

glutamine family amino acid biosynthetic process [inference]

proline biosynthetic process

L-proline biosynthetic process

citrulline biosynthetic process

small molecule biosynthetic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

amino acid biosynthetic process [inference]

alpha-amino acid biosynthetic process [inference]

ornithine biosynthetic process

glutamine family amino acid biosynthetic process [inference]

proline biosynthetic process

L-proline biosynthetic process

citrulline biosynthetic process

organic substance metabolic process [inference]

organic acid metabolic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

amino acid biosynthetic process [inference]

alpha-amino acid biosynthetic process [inference]

ornithine biosynthetic process

glutamine family amino acid biosynthetic process [inference]

proline biosynthetic process

L-proline biosynthetic process

citrulline biosynthetic process

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

amino acid metabolic process [inference]

amino acid biosynthetic process [inference]

alpha-amino acid biosynthetic process [inference]

ornithine biosynthetic process

glutamine family amino acid biosynthetic process [inference]

proline biosynthetic process

L-proline biosynthetic process

citrulline biosynthetic process

alpha-amino acid metabolic process [inference]

citrulline metabolic process [inference]

citrulline biosynthetic process

ornithine metabolic process [inference]

ornithine biosynthetic process

glutamine family amino acid metabolic process [inference]

glutamate metabolic process

proline metabolic process [inference]

proline biosynthetic process

L-proline biosynthetic process

glutamine family amino acid biosynthetic process [inference]

proline biosynthetic process

L-proline biosynthetic process

alpha-amino acid biosynthetic process [inference]

ornithine biosynthetic process

glutamine family amino acid biosynthetic process [inference]

proline biosynthetic process

L-proline biosynthetic process

citrulline biosynthetic process

dicarboxylic acid metabolic process [inference]

glutamate metabolic process

carboxylic acid biosynthetic process [inference]

amino acid biosynthetic process [inference]

alpha-amino acid biosynthetic process [inference]

ornithine biosynthetic process

glutamine family amino acid biosynthetic process [inference]

proline biosynthetic process

L-proline biosynthetic process

citrulline biosynthetic process

organic cyclic compound metabolic process [inference]

organic cyclic compound biosynthetic process [inference]

L-proline biosynthetic process

organonitrogen compound metabolic process [inference]

amino acid metabolic process [inference]

amino acid biosynthetic process [inference]

alpha-amino acid biosynthetic process [inference]

ornithine biosynthetic process

glutamine family amino acid biosynthetic process [inference]

proline biosynthetic process

L-proline biosynthetic process

citrulline biosynthetic process

alpha-amino acid metabolic process [inference]

citrulline metabolic process [inference]

citrulline biosynthetic process

ornithine metabolic process [inference]

ornithine biosynthetic process

glutamine family amino acid metabolic process [inference]

glutamate metabolic process

proline metabolic process [inference]

proline biosynthetic process

L-proline biosynthetic process

glutamine family amino acid biosynthetic process [inference]

proline biosynthetic process

L-proline biosynthetic process

alpha-amino acid biosynthetic process [inference]

ornithine biosynthetic process

glutamine family amino acid biosynthetic process [inference]

proline biosynthetic process

L-proline biosynthetic process

citrulline biosynthetic process

organonitrogen compound biosynthetic process [inference]

amino acid biosynthetic process [inference]

alpha-amino acid biosynthetic process [inference]

ornithine biosynthetic process

glutamine family amino acid biosynthetic process [inference]

proline biosynthetic process

L-proline biosynthetic process

citrulline biosynthetic process

organic substance biosynthetic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

amino acid biosynthetic process [inference]

alpha-amino acid biosynthetic process [inference]

ornithine biosynthetic process

glutamine family amino acid biosynthetic process [inference]

proline biosynthetic process

L-proline biosynthetic process

citrulline biosynthetic process

organic cyclic compound biosynthetic process [inference]

L-proline biosynthetic process

organonitrogen compound biosynthetic process [inference]

amino acid biosynthetic process [inference]

alpha-amino acid biosynthetic process [inference]

ornithine biosynthetic process

glutamine family amino acid biosynthetic process [inference]

proline biosynthetic process

L-proline biosynthetic process

citrulline biosynthetic process

cellular process [inference]

cellular metabolic process [inference]

organic acid metabolic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

amino acid biosynthetic process [inference]

alpha-amino acid biosynthetic process [inference]

ornithine biosynthetic process

glutamine family amino acid biosynthetic process [inference]

proline biosynthetic process

L-proline biosynthetic process

citrulline biosynthetic process

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

amino acid metabolic process [inference]

amino acid biosynthetic process [inference]

alpha-amino acid biosynthetic process [inference]

ornithine biosynthetic process

glutamine family amino acid biosynthetic process [inference]

proline biosynthetic process

L-proline biosynthetic process

citrulline biosynthetic process

alpha-amino acid metabolic process [inference]

citrulline metabolic process [inference]

citrulline biosynthetic process

ornithine metabolic process [inference]

ornithine biosynthetic process

glutamine family amino acid metabolic process [inference]

glutamate metabolic process

proline metabolic process [inference]

proline biosynthetic process

L-proline biosynthetic process

glutamine family amino acid biosynthetic process [inference]

proline biosynthetic process

L-proline biosynthetic process

alpha-amino acid biosynthetic process [inference]

ornithine biosynthetic process

glutamine family amino acid biosynthetic process [inference]

proline biosynthetic process

L-proline biosynthetic process

citrulline biosynthetic process

dicarboxylic acid metabolic process [inference]

glutamate metabolic process

carboxylic acid biosynthetic process [inference]

amino acid biosynthetic process [inference]

alpha-amino acid biosynthetic process [inference]

ornithine biosynthetic process

glutamine family amino acid biosynthetic process [inference]

proline biosynthetic process

L-proline biosynthetic process

citrulline biosynthetic process

phosphorus metabolic process [inference]

phosphate-containing compound metabolic process [inference]

phosphorylation

cellular biosynthetic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

amino acid biosynthetic process [inference]

alpha-amino acid biosynthetic process [inference]

ornithine biosynthetic process

glutamine family amino acid biosynthetic process [inference]

proline biosynthetic process

L-proline biosynthetic process

citrulline biosynthetic process

heterocycle biosynthetic process [inference]

L-proline biosynthetic process

heterocycle metabolic process [inference]

heterocycle biosynthetic process [inference]

L-proline biosynthetic process

response to stimulus [inference]

response to abiotic stimulus [inference]

response to temperature stimulus

Displaying **all 5** entries
GO Term	Evidence Code	PMID
mitochondrion	IDA	26297558 26320891
mitochondrion	IBA
mitochondrion	HTP	34800366
mitochondrial inner membrane	TAS
mitochondrial matrix	IDA	32770108

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane [inference]

organelle membrane [inference]

organelle inner membrane [inference]

mitochondrial inner membrane

mitochondrial membrane [inference]

mitochondrial inner membrane

membrane-enclosed lumen [inference]

organelle lumen [inference]

intracellular organelle lumen [inference]

mitochondrial matrix

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

mitochondrion

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

mitochondrion

Displaying entries **1 - 5** of 9 in total

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GO Term	Evidence Code	PMID
RNA binding	HDA	22658674
glutamate 5-kinase activity	IDA	11092761
glutamate 5-kinase activity	IMP	26297558
glutamate-5-semialdehyde dehydrogenase activity	IDA	11092761
glutamate-5-semialdehyde dehydrogenase activity	IMP	26297558

GO Hierarchy

molecular function

catalytic activity [inference]

oxidoreductase activity [inference]

oxidoreductase activity, acting on the aldehyde or oxo group of donors [inference]

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

glutamate-5-semialdehyde dehydrogenase activity

transferase activity [inference]

transferase activity, transferring phosphorus-containing groups [inference]

kinase activity [inference]

amino acid kinase activity [inference]

glutamate 5-kinase activity

phosphotransferase activity, carboxyl group as acceptor [inference]

glutamate 5-kinase activity

binding [inference]

protein binding

identical protein binding

small molecule binding [inference]

heterocyclic compound binding [inference]

nucleotide binding [inference]

purine nucleotide binding [inference]

adenyl nucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

ion binding [inference]

anion binding [inference]

purine ribonucleoside triphosphate binding [inference]

ATP binding

organic cyclic compound binding [inference]

nucleic acid binding [inference]

RNA binding

nucleoside phosphate binding [inference]

nucleotide binding [inference]

purine nucleotide binding [inference]

adenyl nucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

purine ribonucleoside triphosphate binding [inference]

ATP binding

carbohydrate derivative binding [inference]

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

Delta-1-pyrroline-5-carboxylate synthase

Functional Category

E: Amino acid transport and metabolism
K: Transcription
T: Signal transduction mechanisms

Displaying **all 8** entries
Gene Ontology
ATP binding
L-proline biosynthetic process
amino acid biosynthetic process
glutamate 5-kinase activity
kinase activity
oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor
oxidoreductase activity
proline biosynthetic process

Displaying **all 7** entries
InterPro
Aldehyde dehydrogenase domain
Aldehyde dehydrogenase, C-terminal
Aldehyde dehydrogenase, N-terminal
Aldehyde/histidinol dehydrogenase
Aspartate/glutamate/uridylate kinase
GPR domain
Gamma-glutamyl phosphate reductase GPR, conserved site

Disease

Disease Ontology

Displaying **all 8** entries
DO ID	Disease Name	Source
DOID:0070131	autosomal dominant cutis laxa 3	Alliance of Genome Resources
DOID:0070132	autosomal recessive cutis laxa type IIIA	Alliance of Genome Resources
DOID:0070143	autosomal recessive cutis laxa type III	Alliance of Genome Resources
DOID:0110824	hereditary spastic paraplegia 9A	Alliance of Genome Resources
DOID:0110825	hereditary spastic paraplegia 9B	Alliance of Genome Resources
DOID:1283	enterocele	Alliance of Genome Resources
DOID:2476	hereditary spastic paraplegia	Alliance of Genome Resources
DOID:83	cataract	Alliance of Genome Resources

Ortholog

Displaying entries **1 - 10** of 98 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Xenopus tropicalis	5832	Xenbase:XB-GENE-5765545
Mus musculus	56454	Xenbase:XB-GENE-5765545	MOUSE25691
Rattus norvegicus	361755		RATNO18575
Pan troglodytes	450629		PANTR01221
Canis lupus familiaris	477781		CANLF11328
Bos taurus	514759		BOVIN21244
Danio rerio	557186		DANRE04110
Macaca mulatta	703357		MACMU46460
Monodelphis domestica	100023017		MONDO07554
Equus caballus	100061213		HORSE17594

GlyTouCan

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OrthoDB (Group)

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Acknowledgements