Names & Taxonomy

Uniprot ID:
Q8IVH4
Entry Name:
MMAA_HUMAN
Status:
reviewed
Protein Names:
Methylmalonic aciduria type A protein, mitochondrial (EC 3.6.-.-)
Gene Names:
MMAA
Gene Names Primary:
MMAA
Organism:
Homo sapiens (Human)

Structure

Length:
418
Sequence:
MPMLLPHPHQHFLKGLLRAPFRCYHFIFHSSTHLGSGIPCAQPFNSLGLHCTKWMLLSDGLKRKLCVQTTLKDHTEGLSDKEQRFVDKLYTGLIQGQRACLAEAITLVESTHSRKKELAQVLLQKVLLYHREQEQSNKGKPLAFRVGLSGPPGAGKSTFIEYFGKMLTERGHKLSVLAVDPSSCTSGGSLLGDKTRMTELSRDMNAYIRPSPTRGTLGGVTRTTNEAILLCEGAGYDIILIETVGVGQSEFAVADMVDMFVLLLPPAGGDELQGIKRGIIEMADLVAVTKSDGDLIVPARRIQAEYVSALKLLRKRSQVWKPKVIRISARSGEGISEMWDKMKDFQDLMLASGELTAKRRKQQKVWMWNLIQESVLEHFRTHPTVREQIPLLEQKVLIGALSPGLAADFLLKAFKSRD
Proteomes:
UP000005640

Subcellular location

Subcellular Location:
Mitochondrion

Function

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.
Pathway:
Cofactor biosynthesis; adenosylcobalamin biosynthesis.
Cross Reference Drug Bank:
DB00115 DB00200
Gene Ontology Go:
mitochondrial matrix
GTP binding
GTPase activity
cellular lipid metabolic process
cobalamin biosynthetic process
cobalamin metabolic process
fatty acid beta-oxidation
short-chain fatty acid catabolic process
small molecule metabolic process
vitamin metabolic process
water-soluble vitamin metabolic process
Gene Ontology Biological Process:
cellular lipid metabolic process
cobalamin biosynthetic process
cobalamin metabolic process
fatty acid beta-oxidation
short-chain fatty acid catabolic process
small molecule metabolic process
vitamin metabolic process
water-soluble vitamin metabolic process
Gene Ontology Molecular Function:
GTPase activity
GTP binding
Gene Ontology Cellular Component:
mitochondrial matrix
Keywords:
3D-structure
Chaperone
Complete proteome
Disease mutation
GTP-binding
Hydrolase
Mitochondrion
Nucleotide-binding
Polymorphism
Reference proteome
Transit peptide

Publication

PubMed ID:
12438653 14702039 15489334 24275569 25944712 20876572 15523652 15308131 23026888