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
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
SSD Ortholog
Ortholog supports species divergence
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
Valine, leucine and isoleucine degradation pathway
beta-Alanine metabolism pathway
Inositol phosphate metabolism pathway
Propanoate metabolism pathway
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 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
Transcript Frequencies
Tag Count based mRNA-Abundances across 87 different Tissues (TPM).

Based on Data from Bovine Gene Atlas

Tag Count based mRNA-Abundances across 87 different Tissues (TPM)

(Move your mouse over the image to view a more detailed version)