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ALDH4A1

GENERAL INFORMATION

Gene name

 ALDH4A1

Gene description

 Aldehyde dehydrogenase 4 family, member A1

Protein class

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

Predicted localization

 Intracellular

Number of transcripts

 5
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HUMAN PROTEIN ATLAS INFORMATION

RNA category
TCGA (cancer tissue):Expressed in all
HPA (cell line):Expressed in all
HPA (normal tissue):Tissue enhanced (kidney, liver)

Protein evidence

 Evidence at protein level

Protein expression
normal tissue

 General cytoplasmic expression with a granular pattern at variable levels.

ANTIBODY IHC RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Approved based on 2 antibodies.
HPA006401 , CAB004645
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PROGNOSTIC SUMMARY
Prognostic marker in cervical cancer (favourable).
Cervical cancer p<0.001
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RNA EXPRESSION OVERVIEW
TCGA dataset
RNA cancer category: Expressed in all

PROTEIN EXPRESSION
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer

STAINING SUMMARY
HPA006401
CAB004645

GENE INFORMATION

Gene name

 ALDH4A1 (HGNC Symbol)

Synonyms

 ALDH4, P5CDh

Description

 Aldehyde dehydrogenase 4 family, member A1 (HGNC Symbol)

Entrez gene summary

 This protein belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. Deficiency of this enzyme is associated with type II hyperprolinemia, an autosomal recessive disorder characterized by accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2009]

Chromosome

 1

Cytoband

 p36.13

Chromosome location (bp)

 18871430 - 18902781

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000159423 (version 83.38)

Entrez gene

 8659

UniProt

 P30038 (UniProt - Evidence at protein level)

neXtProt

 NX_P30038

Antibodypedia

 ALDH4A1 antibodies

PROTEIN BROWSER
ALDH4A1-001
ALDH4A1-002
ALDH4A1-003
ALDH4A1-005
ALDH4A1-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
ALDH4A1-001
ENSP00000364490
ENST00000375341
P30038 [Direct mapping]
Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial
A0A024RAD8 [Target identity:100%; Query identity:100%]
Aldehyde dehydrogenase 4 family, member A1, isoform CRA_a
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Enzymes
   ENZYME proteins
   Oxidoreductases
   MEMSAT-SVM predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
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:0003842 [1-pyrroline-5-carboxylate dehydrogenase activity]
GO:0004029 [aldehyde dehydrogenase (NAD) activity]
GO:0005739 [mitochondrion]
GO:0005759 [mitochondrial matrix]
GO:0006537 [glutamate biosynthetic process]
GO:0006560 [proline metabolic process]
GO:0006561 [proline biosynthetic process]
GO:0006562 [proline catabolic process]
GO:0008152 [metabolic process]
GO:0009055 [electron carrier activity]
GO:0010133 [proline catabolic process to glutamate]
GO:0016491 [oxidoreductase activity]
GO:0019470 [4-hydroxyproline catabolic process]
GO:0034641 [cellular nitrogen compound metabolic process]
GO:0042802 [identical protein binding]
GO:0044281 [small molecule metabolic process]
GO:0055114 [oxidation-reduction process]
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 563 aa
61.7 kDa 		No 0
ALDH4A1-002
ENSP00000290597
ENST00000290597
P30038 [Direct mapping]
Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial
A0A024RAD8 [Target identity:100%; Query identity:100%]
Aldehyde dehydrogenase 4 family, member A1, isoform CRA_a
Show all
Enzymes
   ENZYME proteins
   Oxidoreductases
   MEMSAT-SVM predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
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:0003842 [1-pyrroline-5-carboxylate dehydrogenase activity]
GO:0004029 [aldehyde dehydrogenase (NAD) activity]
GO:0005759 [mitochondrial matrix]
GO:0006537 [glutamate biosynthetic process]
GO:0006560 [proline metabolic process]
GO:0006561 [proline biosynthetic process]
GO:0006562 [proline catabolic process]
GO:0008152 [metabolic process]
GO:0009055 [electron carrier activity]
GO:0010133 [proline catabolic process to glutamate]
GO:0016491 [oxidoreductase activity]
GO:0019470 [4-hydroxyproline catabolic process]
GO:0034641 [cellular nitrogen compound metabolic process]
GO:0042802 [identical protein binding]
GO:0044281 [small molecule metabolic process]
GO:0055114 [oxidation-reduction process]
Show all
 563 aa
61.7 kDa 		No 0
ALDH4A1-003
ENSP00000393209
ENST00000432718
Q5TF55 [Direct mapping]
Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
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GO:0008152 [metabolic process]
GO:0016491 [oxidoreductase activity]
GO:0055114 [oxidation-reduction process]
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 214 aa
23.1 kDa 		No 0
ALDH4A1-005
ENSP00000442988
ENST00000538309
P30038 [Direct mapping]
Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial
Show all
Enzymes
   ENZYME proteins
   Oxidoreductases
   MEMSAT-SVM predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
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:0003842 [1-pyrroline-5-carboxylate dehydrogenase activity]
GO:0004029 [aldehyde dehydrogenase (NAD) activity]
GO:0005759 [mitochondrial matrix]
GO:0006537 [glutamate biosynthetic process]
GO:0006560 [proline metabolic process]
GO:0006561 [proline biosynthetic process]
GO:0006562 [proline catabolic process]
GO:0008152 [metabolic process]
GO:0009055 [electron carrier activity]
GO:0010133 [proline catabolic process to glutamate]
GO:0016491 [oxidoreductase activity]
GO:0019470 [4-hydroxyproline catabolic process]
GO:0034641 [cellular nitrogen compound metabolic process]
GO:0042802 [identical protein binding]
GO:0044281 [small molecule metabolic process]
GO:0055114 [oxidation-reduction process]
Show all
 503 aa
55.1 kDa 		No 0
ALDH4A1-201
ENSP00000446071
ENST00000538839
P30038 [Direct mapping]
Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial
Show all
Enzymes
   ENZYME proteins
   Oxidoreductases
   MEMSAT-SVM predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003842 [1-pyrroline-5-carboxylate dehydrogenase activity]
GO:0004029 [aldehyde dehydrogenase (NAD) activity]
GO:0005759 [mitochondrial matrix]
GO:0006537 [glutamate biosynthetic process]
GO:0006560 [proline metabolic process]
GO:0006561 [proline biosynthetic process]
GO:0006562 [proline catabolic process]
GO:0008152 [metabolic process]
GO:0009055 [electron carrier activity]
GO:0010133 [proline catabolic process to glutamate]
GO:0016491 [oxidoreductase activity]
GO:0019470 [4-hydroxyproline catabolic process]
GO:0034641 [cellular nitrogen compound metabolic process]
GO:0042802 [identical protein binding]
GO:0044281 [small molecule metabolic process]
GO:0055114 [oxidation-reduction process]
Show all
 512 aa
56 kDa 		No 0

Contact

The Project

The Human Protein Atlas

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