ALDH18A1

GENERAL INFORMATION

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Gene name

ALDH18A1

Gene description

Aldehyde dehydrogenase 18 family, member A1

Protein class

Disease related genes
Enzymes
Mitochondrial proteins
Plasma proteins
Potential drug targets
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

2
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Cytoplasmic expression in a majority of tissues.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 2 antibodies.
HPA008333 , HPA012604
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Gallbladder

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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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 78.38)

Entrez gene

5832

UniProt

P54886 (UniProt - Evidence at protein level)

neXtProt

NX_P54886

Antibodypedia

ALDH18A1 antibodies


PROTEIN BROWSER

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ENST00000371221
 
ENST00000371224
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ALDH18A1-001 ENSP00000360268
ENST00000371224
P54886
Show all »
Show » Show » 795 87.3 No 0
ALDH18A1-002 ENSP00000360265
ENST00000371221
P54886
Show all »
Show » Show » 793 87.1 No 0