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ALDH6A1

GENERAL INFORMATION

Gene name

 ALDH6A1

Gene description

 Aldehyde dehydrogenase 6 family, member A1

Protein class

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

Predicted localization

 Intracellular,Membrane

Number of transcripts

 3
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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):Expressed in all

Protein evidence

 Evidence at protein level

Protein expression
normal tissue

 Granular cytoplasmic expression in renal tubules and hepatocytes.

ANTIBODY IHC RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data. Pending retesting.

Reliability score

 Supported based on 4 antibodies.
HPA029072 , HPA029073 , HPA029074 , HPA029075
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PROGNOSTIC SUMMARY
Prognostic marker in renal cancer (favourable) and lung cancer (favourable).
Renal cancer p<0.001
Lung 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
HPA029072
HPA029073
HPA029074
HPA029075

GENE INFORMATION

Gene name

 ALDH6A1 (HGNC Symbol)

Synonyms

 MMSDH

Description

 Aldehyde dehydrogenase 6 family, member A1 (HGNC Symbol)

Entrez gene summary

 This gene encodes a member of the aldehyde dehydrogenase protein family. The encoded protein is a mitochondrial methylmalonate semialdehyde dehydrogenase that plays a role in the valine and pyrimidine catabolic pathways. This protein catalyzes the irreversible oxidative decarboxylation of malonate and methylmalonate semialdehydes to acetyl- and propionyl-CoA. Methylmalonate semialdehyde dehydrogenase deficiency is characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]

Chromosome

 14

Cytoband

 q24.3

Chromosome location (bp)

 74056850 - 74084493

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000119711 (version 83.38)

Entrez gene

 4329

UniProt

 Q02252 (UniProt - Evidence at protein level)

neXtProt

 NX_Q02252

Antibodypedia

 ALDH6A1 antibodies

PROTEIN BROWSER
ALDH6A1-001
ALDH6A1-002
ALDH6A1-007

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
ALDH6A1-001
ENSP00000450436
ENST00000553458
Q02252 [Direct mapping]
Methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial
A0A024R6G4 [Target identity:100%; Query identity:100%]
Aldehyde dehydrogenase 6 family, member A1, isoform CRA_b
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Enzymes
   ENZYME proteins
   Oxidoreductases
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT-SVM predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000062 [fatty-acyl-CoA binding]
GO:0004029 [aldehyde dehydrogenase (NAD) activity]
GO:0004491 [methylmalonate-semialdehyde dehydrogenase (acylating) activity]
GO:0005654 [nucleoplasm]
GO:0005739 [mitochondrion]
GO:0005759 [mitochondrial matrix]
GO:0006210 [thymine catabolic process]
GO:0006573 [valine metabolic process]
GO:0006574 [valine catabolic process]
GO:0008152 [metabolic process]
GO:0009083 [branched-chain amino acid catabolic process]
GO:0016491 [oxidoreductase activity]
GO:0016790 [thiolester hydrolase activity]
GO:0018478 [malonate-semialdehyde dehydrogenase (acetylating) activity]
GO:0019484 [beta-alanine catabolic process]
GO:0019859 [thymine metabolic process]
GO:0034641 [cellular nitrogen compound metabolic process]
GO:0044281 [small molecule metabolic process]
GO:0044822 [poly(A) RNA binding]
GO:0050873 [brown fat cell differentiation]
GO:0055114 [oxidation-reduction process]
GO:0070062 [extracellular exosome]
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 535 aa
57.8 kDa 		No 1
ALDH6A1-002
ENSP00000342564
ENST00000350259
Q02252 [Direct mapping]
Methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial
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Enzymes
   ENZYME proteins
   Oxidoreductases
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT-SVM predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Disease related genes
Potential drug targets
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000062 [fatty-acyl-CoA binding]
GO:0004029 [aldehyde dehydrogenase (NAD) activity]
GO:0004491 [methylmalonate-semialdehyde dehydrogenase (acylating) activity]
GO:0005654 [nucleoplasm]
GO:0005739 [mitochondrion]
GO:0005759 [mitochondrial matrix]
GO:0006210 [thymine catabolic process]
GO:0006573 [valine metabolic process]
GO:0006574 [valine catabolic process]
GO:0008152 [metabolic process]
GO:0009083 [branched-chain amino acid catabolic process]
GO:0016491 [oxidoreductase activity]
GO:0018478 [malonate-semialdehyde dehydrogenase (acetylating) activity]
GO:0019859 [thymine metabolic process]
GO:0034641 [cellular nitrogen compound metabolic process]
GO:0044281 [small molecule metabolic process]
GO:0044822 [poly(A) RNA binding]
GO:0055114 [oxidation-reduction process]
GO:0070062 [extracellular exosome]
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 522 aa
56.2 kDa 		No 1
ALDH6A1-007
ENSP00000452081
ENST00000555126
G3V4Z4 [Direct mapping]
Methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004029 [aldehyde dehydrogenase (NAD) activity]
GO:0005654 [nucleoplasm]
GO:0005739 [mitochondrion]
GO:0008152 [metabolic process]
GO:0016491 [oxidoreductase activity]
GO:0018478 [malonate-semialdehyde dehydrogenase (acetylating) activity]
GO:0055114 [oxidation-reduction process]
Show all
 252 aa
27 kDa 		No 0

Contact

The Project

The Human Protein Atlas

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