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ALDH18A1

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

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression in several tissues.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Approved based on 2 antibodies.
HPA008333 , HPA012604
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

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
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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

The Project

The Human Protein Atlas

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