MMAA
entrez
166785
canonical
uniprot
Q8IVH4
canonical
ensembl
ENSG00000151611
resolver
ensp
ENSP00000442284
resolver
ensp
ENSP00000497008
resolver
ensp
ENSP00000497046
resolver
ensp
ENSP00000497680
resolver
ensp
ENSP00000506503
resolver
ensp
ENSP00000538313
resolver
ensp
ENSP00000538314
resolver
enst
ENST00000541599
resolver
enst
ENST00000648388
resolver
enst
ENST00000649156
resolver
enst
ENST00000649704
resolver
enst
ENST00000679563
resolver
enst
ENST00000868254
resolver
enst
ENST00000868255
resolver
genesymbol
MMAA
resolver
hgnc
HGNC:18871
resolver
uniprot
B3KX40
resolver
uniprot
Q495G7
resolver
uniprot_entry
MMAA_HUMAN
resolver
uniprot_sec
B3KX40
resolver
uniprot_sec
Q495G7
resolver
activity_regulation
ACTIVITY REGULATION: GTPase activity is stimulated by MMUT. {ECO:0000269|PubMed:20876572, ECO:0000269|PubMed:28497574}.
uniprot
proteins
amino_acid_sequence
MPMLLPHPHQHFLKGLLRAPFRCYHFIFHSSTHLGSGIPCAQPFNSLGLHCTKWMLLSDGLKRKLCVQTTLKDHTEGLSDKEQRFVDKLYTGLIQGQRACLAEAITLVESTHSRKKELAQVLLQKVLLYHREQEQSNKGKPLAFRVGLSGPPGAGKSTFIEYFGKMLTERGHKLSVLAVDPSSCTSGGSLLGDKTRMTELSRDMNAYIRPSPTRGTLGGVTRTTNEAILLCEGAGYDIILIETVGVGQSEFAVADMVDMFVLLLPPAGGDELQGIKRGIIEMADLVAVTKSDGDLIVPARRIQAEYVSALKLLRKRSQVWKPKVIRISARSGEGISEMWDKMKDFQDLMLASGELTAKRRKQQKVWMWNLIQESVLEHFRTHPTVREQIPLLEQKVLIGALSPGLAADFLLKAFKSRD
uniprot
proteins
disease_involvement
DISEASE: Methylmalonic aciduria, cblA type (MACA) [MIM:251100]: An autosomal recessive disorder of methylmalonate and cobalamin metabolism due to defective synthesis of adenosylcobalamin. {ECO:0000269|PubMed:12438653, ECO:0000269|PubMed:15308131, ECO:0000269|PubMed:15523652, ECO:0000269|PubMed:17957493, ECO:0000269|PubMed:20876572, ECO:0000269|PubMed:23026888, ECO:0000269|PubMed:28497574}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.6.-.-
uniprot
proteins
function
FUNCTION: GTPase, binds and hydrolyzes GTP (PubMed:20876572, PubMed:21138732, PubMed:28497574, PubMed:28943303). Involved in intracellular vitamin B12 metabolism, mediates the transport of cobalamin (Cbl) into mitochondria for the final steps of adenosylcobalamin (AdoCbl) synthesis (PubMed:20876572, PubMed:28497574). Functions as a G protein chaperone that assists AdoCbl cofactor delivery from MMAB to the methylmalonyl-CoA mutase (MMUT) (PubMed:20876572, PubMed:28497574). Plays a dual role as both a protectase and a reactivase for MMUT (PubMed:21138732, PubMed:28943303). Protects MMUT from progressive inactivation by oxidation by decreasing the rate of the formation of the oxidized inactive cofactor hydroxocobalamin (OH2Cbl) (PubMed:21138732, PubMed:28943303). Additionally acts a reactivase by promoting the replacement of OH2Cbl by the active cofactor AdoCbl, restoring the activity of MMUT in the presence and hydrolysis of GTP (PubMed:21138732, PubMed:28943303). {ECO:0000269|PubMed:20876572, ECO:0000269|PubMed:21138732, ECO:0000269|PubMed:28497574, ECO:0000269|PubMed:28943303}.
uniprot
proteins
mass_dalton
46538
uniprot
proteins
mutagenesis
MUTAGEN 290; /note="K->A: Abolishes binding to GTP and GTPase activity; when associated with A-292."; /evidence="ECO:0000269|PubMed:28497574"; MUTAGEN 292; /note="D->A: Abolishes binding to GTP and GTPase activity; when associated with A-290."; /evidence="ECO:0000269|PubMed:28497574
uniprot
proteins
protein_family
ArgK/MeaB subfamily
uniprot
proteins
protein_family
SIMIBI class G3E GTPase family
uniprot
proteins
pubmed
12438653
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15308131
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15523652
uniprot
proteins
pubmed
17957493
uniprot
proteins
pubmed
20876572
uniprot
proteins
pubmed
21138732
uniprot
proteins
pubmed
23026888
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
28497574
uniprot
proteins
pubmed
28943303
uniprot
proteins
sequence_length
418
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:28943303, ECO:0000305}. Cytoplasm {ECO:0000269|PubMed:28943303}.
uniprot
proteins