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ALDH7A1

GENERAL INFORMATION

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

 6
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HUMAN PROTEIN ATLAS INFORMATION

RNA category
TCGA (cancer tissue):Expressed in all
HPA (cell line):Mixed
HPA (normal tissue):Expressed in all

Protein evidence

 Evidence at protein level

Protein expression
normal tissue

 Cytoplasmic expression with a mitochondrial pattern in most tissues.

ANTIBODY IHC RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Supported based on 1 antibody.
HPA023296
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PROGNOSTIC SUMMARY
Prognostic marker in renal cancer (favourable).
Renal 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
Liver cancer

STAINING SUMMARY
HPA023296

GENE INFORMATION

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 83.38)

Entrez gene

 501

UniProt

 P49419 (UniProt - Evidence at protein level)

neXtProt

 NX_P49419

Antibodypedia

 ALDH7A1 antibodies

PROTEIN BROWSER
ALDH7A1-001
ALDH7A1-006
ALDH7A1-015
ALDH7A1-016
ALDH7A1-017
ALDH7A1-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
ALDH7A1-001
ENSP00000387123
ENST00000409134
P49419 [Direct mapping]
Alpha-aminoadipic semialdehyde dehydrogenase
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Enzymes
   ENZYME proteins
   Oxidoreductases
   MEMSAT-SVM predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   SPOCTOPUS predicted secreted 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:0004029 [aldehyde dehydrogenase (NAD) activity]
GO:0004043 [L-aminoadipate-semialdehyde dehydrogenase activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005759 [mitochondrial matrix]
GO:0005829 [cytosol]
GO:0006081 [cellular aldehyde metabolic process]
GO:0006554 [lysine catabolic process]
GO:0007605 [sensory perception of sound]
GO:0008152 [metabolic process]
GO:0008802 [betaine-aldehyde dehydrogenase activity]
GO:0016491 [oxidoreductase activity]
GO:0019285 [glycine betaine biosynthetic process from choline]
GO:0034641 [cellular nitrogen compound metabolic process]
GO:0044281 [small molecule metabolic process]
GO:0055114 [oxidation-reduction process]
GO:0070062 [extracellular exosome]
Show all
 539 aa
58.5 kDa 		No 0
ALDH7A1-006
ENSP00000487936
ENST00000413020
   MEMSAT-SVM predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0008152 [metabolic process]
GO:0016491 [oxidoreductase activity]
GO:0055114 [oxidation-reduction process]
Show all
 294 aa
32.1 kDa 		No 0
ALDH7A1-015
ENSP00000449318
ENST00000509270
F8VVF2 [Direct mapping]
Alpha-aminoadipic semialdehyde dehydrogenase
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004029 [aldehyde dehydrogenase (NAD) activity]
GO:0008152 [metabolic process]
GO:0016491 [oxidoreductase activity]
GO:0055114 [oxidation-reduction process]
Show all
 141 aa
15.5 kDa 		No 0
ALDH7A1-016
ENSP00000447388
ENST00000510111
H0YHM6 [Direct mapping]
Alpha-aminoadipic semialdehyde dehydrogenase
Show all
   MEMSAT-SVM predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004029 [aldehyde dehydrogenase (NAD) activity]
GO:0008152 [metabolic process]
GO:0016491 [oxidoreductase activity]
GO:0055114 [oxidation-reduction process]
Show all
 240 aa
26 kDa 		No 0
ALDH7A1-017
ENSP00000448593
ENST00000553117
F8VS02 [Direct mapping]
Alpha-aminoadipic semialdehyde dehydrogenase
Show all
   MEMSAT-SVM predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004029 [aldehyde dehydrogenase (NAD) activity]
GO:0008152 [metabolic process]
GO:0016491 [oxidoreductase activity]
GO:0055114 [oxidation-reduction process]
Show all
 475 aa
51.4 kDa 		No 0
ALDH7A1-201
ENSP00000414132
ENST00000447989
P49419 [Direct mapping]
Alpha-aminoadipic semialdehyde dehydrogenase
Show all
Enzymes
   ENZYME proteins
   Oxidoreductases
   MEMSAT-SVM predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP 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:0004029 [aldehyde dehydrogenase (NAD) activity]
GO:0004043 [L-aminoadipate-semialdehyde dehydrogenase activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005759 [mitochondrial matrix]
GO:0005829 [cytosol]
GO:0006081 [cellular aldehyde metabolic process]
GO:0006554 [lysine catabolic process]
GO:0007605 [sensory perception of sound]
GO:0008152 [metabolic process]
GO:0008802 [betaine-aldehyde dehydrogenase activity]
GO:0016491 [oxidoreductase activity]
GO:0019285 [glycine betaine biosynthetic process from choline]
GO:0034641 [cellular nitrogen compound metabolic process]
GO:0044281 [small molecule metabolic process]
GO:0055114 [oxidation-reduction process]
GO:0070062 [extracellular exosome]
Show all
 502 aa
54 kDa 		No 0

Contact

The Project

The Human Protein Atlas

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