| Identification |
|---|
| HMDB Protein ID
| CDBP02239 |
| Secondary Accession Numbers
| Not Available |
| Name
| Methylmalonic aciduria type A protein, mitochondrial |
| Description
| Not Available |
| Synonyms
|
Not Available
|
| Gene Name
| MMAA |
| Protein Type
| Enzyme |
| Biological Properties |
|---|
| General Function
| Involved in nucleotide binding |
| Specific Function
| Probable GTPase. May function as chaperone. May be involved in the transport of cobalamin (Cbl) into mitochondria for the final steps of adenosylcobalamin (AdoCbl) synthesis |
| GO Classification
|
| Function |
| binding |
| nucleotide binding |
| catalytic activity |
| hydrolase activity |
| nucleoside-triphosphatase activity |
| hydrolase activity, acting on acid anhydrides |
| hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides |
| pyrophosphatase activity |
|
| Cellular Location
|
- Mitochondrion (Probable)
|
| Pathways
|
Not Available
|
| Gene Properties |
|---|
| Chromosome Location
| Chromosome:4 |
| Locus
| 4q31.21 |
| SNPs
| MMAA |
| Gene Sequence
|
>1257 bp
ATGCCCATGCTGCTACCACATCCTCACCAGCATTTCCTAAAAGGCCTTTTAAGAGCACCT
TTCCGATGTTACCACTTCATCTTTCACTCAAGTACTCATCTCGGATCAGGAATCCCATGT
GCTCAGCCGTTTAATTCTCTTGGACTCCATTGTACAAAGTGGATGCTGCTGTCAGATGGC
TTAAAGAGAAAATTATGTGTACAAACAACCTTAAAGGACCACACAGAAGGACTTTCTGAT
AAAGAGCAAAGATTTGTGGATAAACTTTATACTGGTTTAATCCAAGGGCAAAGGGCCTGT
TTAGCAGAGGCCATAACTCTTGTAGAATCAACTCACAGCAGGAAAAAGGAGTTAGCCCAG
GTGCTTCTTCAGAAAGTATTACTTTACCACAGAGAACAAGAACAATCAAATAAAGGAAAA
CCACTAGCATTTCGAGTAGGATTGTCTGGGCCCCCTGGTGCTGGAAAATCAACATTTATA
GAATATTTTGGAAAAATGCTTACTGAGAGAGGGCACAAATTATCTGTGCTAGCTGTGGAC
CCTTCTTCTTGTACTAGTGGTGGATCACTCTTAGGTGATAAAACCCGAATGACTGAGTTA
TCAAGAGATATGAATGCATACATCAGGCCATCTCCTACTAGAGGAACTTTAGGAGGCGTG
ACAAGGACCACAAATGAAGCTATTCTGTTGTGTGAAGGAGCGGGATATGACATAATTCTT
ATTGAAACCGTTGGTGTGGGTCAGTCGGAGTTTGCTGTTGCTGACATGGTTGACATGTTT
GTTTTACTACTGCCACCAGCAGGAGGAGATGAGCTGCAGGGTATCAAAAGGGGTATAATC
GAGATGGCAGATCTGGTAGCTGTAACTAAATCTGATGGAGACTTGATTGTGCCAGCTCGA
AGGATACAAGCGGAATATGTGAGTGCACTGAAATTACTCCGCAAACGTTCACAAGTCTGG
AAACCAAAGGTAATTCGTATTTCTGCCCGAAGTGGAGAGGGGATCTCTGAAATGTGGGAT
AAAATGAAAGATTTCCAGGACCTAATGCTTGCCAGTGGGGAGCTGACTGCCAAACGACGG
AAGCAACAGAAAGTTTGGATGTGGAATCTCATTCAGGAAAGTGTGTTAGAGCATTTCAGG
ACCCACCCCACAGTCCGGGAACAGATTCCACTTCTGGAACAAAAGGTTCTCATTGGGGCC
CTGTCCCCAGGACTAGCAGCAGACTTCTTGTTAAAAGCTTTTAAAAGCAGAGACTAA
|
| Protein Properties |
|---|
| Number of Residues
| 418 |
| Molecular Weight
| 46537.9 |
| Theoretical pI
| 9.83 |
| Pfam Domain Function
|
|
| Signals
|
|
|
Transmembrane Regions
|
|
| Protein Sequence
|
>Methylmalonic aciduria type A protein, mitochondrial
MPMLLPHPHQHFLKGLLRAPFRCYHFIFHSSTHLGSGIPCAQPFNSLGLHCTKWMLLSDG
LKRKLCVQTTLKDHTEGLSDKEQRFVDKLYTGLIQGQRACLAEAITLVESTHSRKKELAQ
VLLQKVLLYHREQEQSNKGKPLAFRVGLSGPPGAGKSTFIEYFGKMLTERGHKLSVLAVD
PSSCTSGGSLLGDKTRMTELSRDMNAYIRPSPTRGTLGGVTRTTNEAILLCEGAGYDIIL
IETVGVGQSEFAVADMVDMFVLLLPPAGGDELQGIKRGIIEMADLVAVTKSDGDLIVPAR
RIQAEYVSALKLLRKRSQVWKPKVIRISARSGEGISEMWDKMKDFQDLMLASGELTAKRR
KQQKVWMWNLIQESVLEHFRTHPTVREQIPLLEQKVLIGALSPGLAADFLLKAFKSRD
|
| External Links |
|---|
| GenBank ID Protein
| Not Available |
| UniProtKB/Swiss-Prot ID
| Q8IVH4 |
| UniProtKB/Swiss-Prot Entry Name
| MMAA_HUMAN |
| PDB IDs
|
Not Available |
| GenBank Gene ID
| AK126662 |
| GeneCard ID
| MMAA |
| GenAtlas ID
| MMAA |
| HGNC ID
| HGNC:18871 |
| References |
|---|
| General References
| Not Available |