ALDH4A1

GENERAL INFORMATION

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Gene name

ALDH4A1

Gene description

Aldehyde dehydrogenase 4 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

5
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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

General cytoplasmic expression with a granular pattern at variable levels.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 2 antibodies.
HPA006401 , CAB004645
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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

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

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 78.38)

Entrez gene

8659

UniProt

P30038 (UniProt - Evidence at protein level)

neXtProt

NX_P30038

Antibodypedia

ALDH4A1 antibodies


PROTEIN BROWSER

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ENST00000290597
 
ENST00000375341
 
ENST00000432718
 
ENST00000538309
 
ENST00000538839
 
 
 
 


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)

ALDH4A1-001 ENSP00000364490
ENST00000375341
P30038
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Show » Show » 563 61.7 No 0
ALDH4A1-002 ENSP00000290597
ENST00000290597
P30038
Show all »
Show » Show » 563 61.7 No 0
ALDH4A1-003 ENSP00000393209
ENST00000432718
Q5TF55
Show all »
Show » Show » 214 23.1 No 0
ALDH4A1-005 ENSP00000442988
ENST00000538309
P30038
Show all »
Show » Show » 503 55.1 No 0
ALDH4A1-201 ENSP00000446071
ENST00000538839
P30038
Show all »
Show » Show » 512 56 No 0