Bos taurus Gene: BT.98765 | |||||||||||
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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
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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] |
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Gene Information | |||||||||||
Type | Protein coding | ||||||||||
Genomic Location | Chromosome 10:85821883-85839587 | ||||||||||
Strand | Reverse strand | ||||||||||
Band | |||||||||||
Transcripts |
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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.
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Gene Ontology | |||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||
Species
Homo sapiens
Mus musculus
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Gene ID
Gene Order
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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
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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
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INOH |
Propanoate metabolism pathway
Valine Leucine Isoleucine degradation pathway
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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 | ||||||||||