Homo sapiens Gene: ALDH6A1 | |||||||||||||||||||||
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Summary | |||||||||||||||||||||
InnateDB Gene | IDBG-11882.6 | ||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||
Gene Symbol | ALDH6A1 | ||||||||||||||||||||
Gene Name | aldehyde dehydrogenase 6 family, member A1 | ||||||||||||||||||||
Synonyms | MMSADHA; MMSDH | ||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||
Ensembl Gene | ENSG00000119711 | ||||||||||||||||||||
Encoded Proteins |
aldehyde dehydrogenase 6 family, member A1
aldehyde dehydrogenase 6 family, member A1
aldehyde dehydrogenase 6 family, member A1
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Protein Structure | |||||||||||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||||
Entrez Gene | |||||||||||||||||||||
Summary |
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 14:74056850-74084493 | ||||||||||||||||||||
Strand | Reverse strand | ||||||||||||||||||||
Band | q24.3 | ||||||||||||||||||||
Transcripts |
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Interactions | |||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
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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
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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Pathways | |||||||||||||||||||||
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 | |||||||||||||||||||||
TrEMBL | |||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||
Entrez Gene | |||||||||||||||||||||
UniGene | Hs.293970 Hs.663176 Hs.708053 Hs.717295 Hs.732227 | ||||||||||||||||||||
RefSeq | NM_001278593 NM_001278594 NM_005589 | ||||||||||||||||||||
HUGO | |||||||||||||||||||||
OMIM | |||||||||||||||||||||
CCDS | CCDS61501 CCDS9826 | ||||||||||||||||||||
HPRD | 04416 | ||||||||||||||||||||
IMGT | |||||||||||||||||||||
EMBL | |||||||||||||||||||||
GenPept | |||||||||||||||||||||
RNA Seq Atlas | |||||||||||||||||||||