| Identification |
| HMDB Protein ID
| CDBP00049 |
| Secondary Accession Numbers
| Not Available |
| Name
| Methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial |
| Description
| Not Available |
| Synonyms
|
- Aldehyde dehydrogenase family 6 member A1
- MMSDH
- Malonate-semialdehyde dehydrogenase [acylating]
|
| Gene Name
| ALDH6A1 |
| Protein Type
| Enzyme |
| Biological Properties |
| General Function
| Involved in oxidoreductase activity |
| Specific Function
| Plays a role in valine and pyrimidine metabolism. Binds fatty acyl-CoA.
|
| GO Classification
|
| Biological Process |
| beta-alanine catabolic process |
| thymine metabolic process |
| branched-chain amino acid catabolic process |
| valine metabolic process |
| brown fat cell differentiation |
| thymine catabolic process |
| valine catabolic process |
| Cellular Component |
| mitochondrial matrix |
| nucleus |
| Function |
| catalytic activity |
| oxidoreductase activity |
| oxidoreductase activity, acting on the aldehyde or oxo group of donors |
| oxidoreductase activity, acting on the aldehyde or oxo group of donors, nad or nadp as acceptor |
| methylmalonate-semialdehyde dehydrogenase (acylating) activity |
| Molecular Function |
| thiolester hydrolase activity |
| fatty-acyl-CoA binding |
| malonate-semialdehyde dehydrogenase (acetylating) activity |
| methylmalonate-semialdehyde dehydrogenase (acylating) activity |
| Process |
| metabolic process |
| cellular metabolic process |
| oxidation reduction |
| cellular amino acid and derivative metabolic process |
| cellular amino acid metabolic process |
| branched chain family amino acid metabolic process |
| valine metabolic process |
|
| Cellular Location
|
- Mitochondrion
|
| Pathways
|
| Name | SMPDB/Pathwhiz | KEGG | | Beta-Alanine Metabolism |    |  | | GABA-Transaminase Deficiency |    | Not Available | | Ureidopropionase Deficiency |    | Not Available | | Carnosinuria, carnosinemia |    | Not Available | | Valine, Leucine and Isoleucine Degradation |    |  |
|
| Gene Properties |
| Chromosome Location
| 14 |
| Locus
| 14q24.3 |
| SNPs
| ALDH6A1 |
| Gene Sequence
|
>1608 bp
ATGGCGGCGCTATTGGCGGCGGCGGCAGTGCGAGCCCGGATCCTGCAGGTTTCTTCCAAG
GTGAAATCCAGTCCCACCTGGTATTCAGCATCTTCCTTCTCTTCTTCAGTGCCAACTGTA
AAGCTCTTCATTGGTGGGAAATTCGTTGAATCCAAAAGTGACAAATGGATCGATATCCAC
AACCCAGCCACCAATGAGGTCATTGGTCGGGTCCCTCAGGCCACCAAGGCAGAAATGGAT
GCAGCCATTGCTTCCTGCAAACGTGCTTTTCCTGCATGGGCAGACACTTCAGTATTAAGC
CGCCAGCAGGTCTTGCTCCGCTATCAACAACTTATTAAAGAAAACTTGAAAGAAATTGCC
AAGTTAATCACATTGGAACAAGGGAAGACCCTAGCTGATGCTGAAGGAGATGTATTTCGA
GGCCTTCAGGTGGTTGAGCATGCCTGTAGTGTGACATCCCTCATGATGGGAGAGACCATG
CCATCCATCACCAAAGACATGGACCTTTATTCCTACCGTCTGCCTCTGGGAGTGTGTGCA
GGCATTGCTCCATTCAATTTTCCTGCCATGATCCCCCTTTGGATGTTTCCCATGGCCATG
GTGTGTGGAAATACCTTCCTAATGAAACCATCTGAGCGAGTCCCTGGAGCAACTATGCTT
CTTGCTAAGTTGCTCCAGGATTCTGGTGCCCCTGATGGAACATTAAACATCATCCATGGA
CAGCATGAAGCTGTAAATTTTATTTGCGATCATCCGGACATCAAAGCAATCAGCTTTGTG
GGATCCAACAAGGCAGGAGAGTATATCTTCGAGAGAGGATCAAGACATGGCAAGAGGGTT
CAAGCCAATATGGGAGCCAAGAACCATGGGGTAGTCATGCCAGATGCCAATAAGGAAAAT
ACCCTGAACCAGCTGGTTGGGGCAGCATTTGGAGCTGCTGGTCAGCGCTGCATGGCTCTT
TCAACAGCAGTCCTTGTGGGAGAAGCCAAGAAGTGGCTGCCAGAGCTGGTGGAGCATGCC
AAAAACCTGAGAGTCAATGCAGGAGATCAGCCTGGAGCTGATCTTGGCCCTCTGATCACT
CCCCAGGCCAAAGAGCGAGTCTGTAATCTGATTGATAGTGGAACAAAGGAGGGAGCTTCC
ATCCTTCTTGATGGACGAAAAATTAAAGTGAAAGGCTATGAAAATGGCAACTTTGTTGGA
CCAACCATCATCTCGAATGTCAAGCCAAATATGACCTGTTACAAAGAGGAGATTTTTGGT
CCAGTTCTTGTGGTTCTGGAGACAGAAACATTGGATGAAGCCATCCAGATTGTAAATAAC
AACCCATATGGAAATGGAACTGCCATCTTCACCACCAATGGAGCCACTGCTCGGAAATAT
GCCCACTTGGTGGATGTTGGACAGGTGGGAGTGAATGTCCCCATTCCAGTGCCTTTGCCA
ATGTTCTCATTCACCGGCTCTCGATCCTCCTTCAGGGGAGACACCAATTTCTATGGCAAA
CAGGGCATCCAATTCTACACTCAGTTAAAGACCATTACTTCTCAGTGGAAAGAAGAAGAT
GCTACTCTTTCCTCACCTGCTGTTGTCATGCCTACCATGGGCCGTTAG
|
| Protein Properties |
| Number of Residues
| 535 |
| Molecular Weight
| 57839.31 |
| Theoretical pI
| 8.494 |
| Pfam Domain Function
|
|
| Signals
|
Not Available
|
|
Transmembrane Regions
|
Not Available
|
| Protein Sequence
|
>Methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial
MAALLAAAAVRARILQVSSKVKSSPTWYSASSFSSSVPTVKLFIGGKFVESKSDKWIDIH
NPATNEVIGRVPQATKAEMDAAIASCKRAFPAWADTSVLSRQQVLLRYQQLIKENLKEIA
KLITLEQGKTLADAEGDVFRGLQVVEHACSVTSLMMGETMPSITKDMDLYSYRLPLGVCA
GIAPFNFPAMIPLWMFPMAMVCGNTFLMKPSERVPGATMLLAKLLQDSGAPDGTLNIIHG
QHEAVNFICDHPDIKAISFVGSNKAGEYIFERGSRHGKRVQANMGAKNHGVVMPDANKEN
TLNQLVGAAFGAAGQRCMALSTAVLVGEAKKWLPELVEHAKNLRVNAGDQPGADLGPLIT
PQAKERVCNLIDSGTKEGASILLDGRKIKVKGYENGNFVGPTIISNVKPNMTCYKEEIFG
PVLVVLETETLDEAIQIVNNNPYGNGTAIFTTNGATARKYAHLVDVGQVGVNVPIPVPLP
MFSFTGSRSSFRGDTNFYGKQGIQFYTQLKTITSQWKEEDATLSSPAVVMPTMGR
|
| External Links |
| GenBank ID Protein
| 6164678 |
| UniProtKB/Swiss-Prot ID
| Q02252 |
| UniProtKB/Swiss-Prot Entry Name
| MMSA_HUMAN |
| PDB IDs
|
Not Available |
| GenBank Gene ID
| AF148505 |
| GeneCard ID
| ALDH6A1 |
| GenAtlas ID
| ALDH6A1 |
| HGNC ID
| HGNC:7179 |
| References |
| General References
| Not Available |