Mus musculus Gene: Aldh6a1
Summary
InnateDB Gene IDBG-156754.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Aldh6a1
Gene Name aldehyde dehydrogenase family 6, subfamily A1
Synonyms 1110038I05Rik; AI314632; Mmsdh
Species Mus musculus
Ensembl Gene ENSMUSG00000021238
Encoded Proteins
aldehyde dehydrogenase family 6, subfamily A1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000119711:
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 12:84430723-84450950
Strand Reverse strand
Band D1
Transcripts
ENSMUST00000085192 ENSMUSP00000082288
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 8 [view]
Protein-Protein 8 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
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:0006574 valine catabolic process
GO:0008152 metabolic process
GO:0050873 brown fat cell differentiation
GO:0055114 oxidation-reduction process
Cellular Component
GO:0005634 nucleus
GO:0005739 mitochondrion
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Metabolism pathway
Metabolism of amino acids and derivatives pathway
Branched-chain amino acid catabolism pathway
KEGG
beta-Alanine metabolism pathway
Valine, leucine and isoleucine degradation pathway
Propanoate metabolism pathway
Inositol phosphate metabolism pathway
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
Branched-chain amino acid catabolism pathway
Metabolism of amino acids and derivatives pathway
Metabolism pathway
KEGG
Inositol phosphate metabolism pathway
Valine, leucine and isoleucine degradation pathway
Propanoate metabolism pathway
beta-Alanine metabolism pathway
INOH
Propanoate metabolism pathway
Valine Leucine Isoleucine degradation pathway
PID NCI
Cross-References
SwissProt Q9EQ20
TrEMBL Q8K0L1
UniProt Splice Variant
Entrez Gene 104776
UniGene Mm.247510
RefSeq NM_134042
OMIM
CCDS CCDS26046
HPRD
IMGT
MGI ID MGI:1915077
MGI Symbol Aldh6a1
EMBL AF297860 AK033587 AK147146 AK155814 AK169915 AK170305 AK171581 AK171896 BC031148 BC033440
GenPept AAG44988 AAH31148 AAH33440 BAC28375 BAE27715 BAE33445 BAE41455 BAE41702 BAE42539 BAE42726
RNA Seq Atlas 104776