| Mus musculus Gene: Aldh6a1 | |||||||||||||||||||||||
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| 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
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| Protein Structure |
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| 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 12:84430723-84450950 | ||||||||||||||||||||||
| Strand | Reverse strand | ||||||||||||||||||||||
| Band | D1 | ||||||||||||||||||||||
| Transcripts |
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| 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.
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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 | |||||||||||||||||||||||
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Species
Homo sapiens
Bos taurus
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Gene ID
Gene Order
Not yet available
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| Pathways | |||||||||||||||||||||||
| NETPATH | |||||||||||||||||||||||
| REACTOME |
Metabolism pathway
Metabolism of amino acids and derivatives pathway
Branched-chain amino acid catabolism pathway
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| KEGG |
beta-Alanine metabolism pathway
Valine, leucine and isoleucine degradation pathway
Propanoate metabolism pathway
Inositol phosphate metabolism pathway
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| 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
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| KEGG |
Inositol phosphate metabolism pathway
Valine, leucine and isoleucine degradation pathway
Propanoate metabolism pathway
beta-Alanine metabolism pathway
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| INOH |
Propanoate metabolism pathway
Valine Leucine Isoleucine degradation pathway
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| 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 | ||||||||||||||||||||||