Cell atlas - ALDH18A1 - The Human Protein Atlas

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ALDH18A1

TISSUE

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CELL

PATHOLOGY

CELL ATLAS RNA EXPRESSION HUMAN CELLS

GENE/PROTEIN

Antibody validation

Dictionary
	Mitochondria

Human cell
	Mitochondria

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GENERAL INFORMATION
Gene name	ALDH18A1
Gene description	Aldehyde dehydrogenase 18 family, member A1
Protein class	Disease related genes Enzymes Plasma proteins Potential drug targets Predicted intracellular proteins
Predicted localization	Intracellular
Number of transcripts	2
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HUMAN PROTEIN ATLAS INFORMATION
Summary	Mainly localized to the mitochondria.
RNA cell category	Expressed in all
Protein evidence	Evidence at protein level
Main location	Localized to the Mitochondria (validated)

DATA RELIABILITY
Reliability score	Validated based on 2 antibodies. HPA008333 , HPA012604
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ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Expressed in all Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

HUMAN CELLS

Summary

Mainly localized to the mitochondria.

Main location

Mitochondria (validated)


	Toggle channels	Low High G1 S G2 M N/A

Thumbnail	Antibody	Cell line	Location	Single-cell variation	Cell cycle dependent variation
	HPA012604	A-431	Mitochondria
	HPA012604	U-2 OS	Mitochondria
	HPA012604	U-251 MG	Cytosol
	HPA008333	U-2 OS	Mitochondria
	HPA008333	U-251 MG	Mitochondria

GENE INFORMATION
Gene name	ALDH18A1 (HGNC Symbol)
Synonyms	GSAS, P5CS, PYCS
Description	Aldehyde dehydrogenase 18 family, member A1 (HGNC Symbol)
Entrez gene summary	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 reduction of glutamate to delta1-pyrroline-5-carboxylate, a critical step in the de novo biosynthesis of proline, ornithine and arginine. Mutations in this gene lead to hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia and may be associated with neurodegeneration, cataracts and connective tissue diseases. Alternatively spliced transcript variants, encoding different isoforms, have been described for this gene. [provided by RefSeq, Jul 2008]
Chromosome	10
Cytoband	q24.1
Chromosome location (bp)	95605929 - 95656706
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000059573 (version 83.38)
Entrez gene	5832
UniProt	P54886 (UniProt - Evidence at protein level)
neXtProt	NX_P54886
Antibodypedia	ALDH18A1 antibodies

PROTEIN BROWSER

ALDH18A1-001	ALDH18A1-002

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
ALDH18A1-001 ENSP00000360268 ENST00000371224	P54886 [Direct mapping] Delta-1-pyrroline-5-carboxylate synthase Glutamate 5-kinase Gamma-glutamyl phosphate reductase Show all	Enzymes ENZYME proteins Oxidoreductases Transferases Predicted intracellular proteins Plasma proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0003824 [catalytic activity] GO:0004349 [glutamate 5-kinase activity] GO:0004350 [glutamate-5-semialdehyde dehydrogenase activity] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005737 [cytoplasm] GO:0005739 [mitochondrion] GO:0005743 [mitochondrial inner membrane] GO:0006536 [glutamate metabolic process] GO:0006561 [proline biosynthetic process] GO:0006592 [ornithine biosynthetic process] GO:0008152 [metabolic process] GO:0008652 [cellular amino acid biosynthetic process] GO:0016310 [phosphorylation] GO:0016491 [oxidoreductase activity] GO:0019240 [citrulline biosynthetic process] GO:0034641 [cellular nitrogen compound metabolic process] GO:0044281 [small molecule metabolic process] GO:0044822 [poly(A) RNA binding] GO:0055114 [oxidation-reduction process] GO:0055129 [L-proline biosynthetic process] Show all	795 aa 87.3 kDa	No	0
ALDH18A1-002 ENSP00000360265 ENST00000371221	P54886 [Direct mapping] Delta-1-pyrroline-5-carboxylate synthase Glutamate 5-kinase Gamma-glutamyl phosphate reductase Show all	Enzymes ENZYME proteins Oxidoreductases Transferases Predicted intracellular proteins Plasma proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0003824 [catalytic activity] GO:0004349 [glutamate 5-kinase activity] GO:0004350 [glutamate-5-semialdehyde dehydrogenase activity] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005737 [cytoplasm] GO:0005739 [mitochondrion] GO:0005743 [mitochondrial inner membrane] GO:0006536 [glutamate metabolic process] GO:0006561 [proline biosynthetic process] GO:0006592 [ornithine biosynthetic process] GO:0008152 [metabolic process] GO:0008652 [cellular amino acid biosynthetic process] GO:0016310 [phosphorylation] GO:0016491 [oxidoreductase activity] GO:0019240 [citrulline biosynthetic process] GO:0034641 [cellular nitrogen compound metabolic process] GO:0044281 [small molecule metabolic process] GO:0044822 [poly(A) RNA binding] GO:0055114 [oxidation-reduction process] GO:0055129 [L-proline biosynthetic process] Show all	793 aa 87.1 kDa	No	0

Contact

contact@proteinatlas.org

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.