Homo sapiens Gene: ALDH6A1
Summary
InnateDB Gene IDBG-11882.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ALDH6A1
Gene Name aldehyde dehydrogenase 6 family, member A1
Synonyms MMSADHA; MMSDH;
Species Homo sapiens
Ensembl Gene ENSG00000119711
Encoded Proteins
aldehyde dehydrogenase 6 family, member A1
aldehyde dehydrogenase 6 family, member A1
aldehyde dehydrogenase 6 family, member A1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This protein belongs to the aldehyde dehydrogenases family of proteins. This enzyme plays a role in the valine and pyrimidine catabolic pathways. The product of this gene, a mitochondrial methylmalonate semialdehyde dehydrogenase, 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. [provided by RefSeq, Jul 2008]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 14:74056850-74084493
Strand Reverse strand
Band q24.3
Transcripts
ENST00000350259 ENSP00000342564
ENST00000553458 ENSP00000450436
ENST00000554501
ENST00000555126 ENSP00000452081
ENST00000554231
ENST00000553814
ENST00000556852
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0000062 fatty-acyl-CoA binding
GO:0004491 methylmalonate-semialdehyde dehydrogenase (acylating) activity
GO:0016491 oxidoreductase activity
GO:0018478 malonate-semialdehyde dehydrogenase (acetylating) activity
GO:0044822 poly(A) RNA binding
Biological Process
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:0019859 thymine metabolic process
GO:0034641 cellular nitrogen compound metabolic process
GO:0044281 small molecule metabolic process
GO:0050873 brown fat cell differentiation
GO:0055114 oxidation-reduction process
Cellular Component
GO:0005634 nucleus
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Branched-chain amino acid catabolism pathway
Metabolism of amino acids and derivatives pathway
Metabolism pathway
KEGG
Valine, leucine and isoleucine degradation pathway
beta-Alanine metabolism pathway
Inositol phosphate metabolism pathway
Propanoate metabolism pathway
INOH
Propanoate metabolism pathway
Valine Leucine Isoleucine degradation pathway
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL G3V4Z4
UniProt Splice Variant
Entrez Gene 4329
UniGene Hs.293970 Hs.663176 Hs.708053 Hs.717295 Hs.732227
RefSeq NM_001278593 NM_001278594 NM_005589
HUGO HGNC:7179
OMIM 603178
CCDS CCDS61501 CCDS9826
HPRD 04416
IMGT
EMBL AC005484
GenPept
RNA Seq Atlas 4329