ALDH7A1

GENERAL INFORMATION

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Gene name

ALDH7A1

Gene description

Aldehyde dehydrogenase 7 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

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RNA tissue category

HPA:Mixed
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Most of the normal tissues displayed weak to moderate cytoplasmic positivity. Lung, neuronal cells, lymphoid tissues and muscle cells and were negative.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA023296
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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:  Mixed

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

ALDH7A1 (HGNC Symbol)

Synonyms

ATQ1, EPD, PDE

Description

Aldehyde dehydrogenase 7 family, member A1 (HGNC Symbol)

Entrez gene summary

The protein encoded by this gene is a member of subfamily 7 in the aldehyde dehydrogenase gene family. These enzymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This particular member has homology to a previously described protein from the green garden pea, the 26g pea turgor protein. It is also involved in lysine catabolism that is known to occur in the mitochondrial matrix. Recent reports show that this protein is found both in the cytosol and the mitochondria, and the two forms likely arise from the use of alternative translation initiation sites. An additional variant encoding a different isoform has also been found for this gene. Mutations in this gene are associated with pyridoxine-dependent epilepsy. Several related pseudogenes have also been identified. [provided by RefSeq, Jan 2011]

Chromosome

5

Cytoband

q23.2

Chromosome location (bp)

126541841 - 126595418

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000164904 (version 78.38)

Entrez gene

501

UniProt

P49419 (UniProt - Evidence at protein level)

neXtProt

NX_P49419

Antibodypedia

ALDH7A1 antibodies


PROTEIN BROWSER

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ENST00000409134
 
ENST00000447989
 
ENST00000509270
 
ENST00000510111
 
ENST00000553117
 
 
 
 


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)

ALDH7A1-001 ENSP00000387123
ENST00000409134
P49419
Show all »
Show » Show » 539 58.5 No 0
ALDH7A1-015 ENSP00000449318
ENST00000509270
F8VVF2
Show all »
Show » Show » 141 15.5 No 0
ALDH7A1-016 ENSP00000447388
ENST00000510111
H0YHM6
Show all »
Show » Show » 240 26 No 0
ALDH7A1-017 ENSP00000448593
ENST00000553117
F8VS02
Show all »
Show » Show » 475 51.4 No 0
ALDH7A1-201 ENSP00000414132
ENST00000447989
P49419
Show all »
Show » Show » 502 54 No 0