Bos taurus Gene: BT.98765
Summary
InnateDB Gene IDBG-646848.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol BT.98765
Gene Name methylmalonate-semialdehyde dehydrogenase
Synonyms
Species Bos taurus
Ensembl Gene ENSBTAG00000018469
Encoded Proteins
methylmalonate-semialdehyde dehydrogenase
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 10:85821883-85839587
Strand Reverse strand
Band
Transcripts
ENSBTAT00000024584 ENSBTAP00000024584
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
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:0016620 oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor
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
Mus musculus
Gene ID
Gene Order
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
Branched-chain amino acid catabolism pathway
Metabolism of amino acids and derivatives pathway
Metabolism pathway
Metabolism pathway
Metabolism of amino acids and derivatives pathway
Branched-chain amino acid catabolism pathway
KEGG
Inositol phosphate metabolism pathway
Valine, leucine and isoleucine degradation pathway
Propanoate metabolism pathway
beta-Alanine metabolism pathway
beta-Alanine metabolism pathway
Valine, leucine and isoleucine degradation pathway
Propanoate metabolism pathway
Inositol phosphate metabolism pathway
INOH
Propanoate metabolism pathway
Valine Leucine Isoleucine degradation pathway
PID NCI
Cross-References
SwissProt
TrEMBL F1N7K8
UniProt Splice Variant
Entrez Gene 327692
UniGene Bt.98765
RefSeq NM_175811 XM_005211939
HUGO HGNC:7179
OMIM
CCDS
HPRD
IMGT
EMBL DAAA02029608
GenPept
RNA Seq Atlas 327692