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 |
branched-chain amino acid catabolic process |
valine metabolic process |
brown fat cell differentiation |
thymine catabolic process |
valine catabolic process |
beta-alanine catabolic process |
thymine metabolic 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 |
malonate-semialdehyde dehydrogenase (acetylating) activity |
methylmalonate-semialdehyde dehydrogenase (acylating) activity |
thiolester hydrolase activity |
fatty-acyl-CoA binding |
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 |