Entity Details

Primary name MMAA_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8IVH4
EntryNameMMAA_HUMAN
FullNameMethylmalonic aciduria type A protein, mitochondrial
TaxID9606
Evidenceevidence at protein level
Length418
SequenceStatuscomplete
DateCreated2003-11-07
DateModified2021-06-02

Ontological Relatives

GenesMMAA

GO terms

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GOName
GO:0003924 GTPase activity
GO:0005525 GTP binding
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0009235 cobalamin metabolic process
GO:0019626 short-chain fatty acid catabolic process
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity

Subcellular Location

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Subcellular Location
Cytoplasm
Mitochondrion

Domains

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DomainNameCategoryType
IPR005129 SIMIBI class G3E GTPase, ArgK/MeaBFamilyFamily
IPR027417 P-loop containing nucleoside triphosphate hydrolaseFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
251100 OMIMMethylmalonic aciduria type cblA (MMAA)A disorder of methylmalonate and cobalamin metabolism due to defective synthesis of adenosylcobalamin. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00115 CyanocobalaminDrugbanksmall molecule
DB00200 HydroxocobalaminDrugbanksmall molecule

Interactions

2 interactions

InteractorPartnerSourcesPublicationsLink
MMAA_HUMANMUTA_HUMANBioGRID, HPRD, IntAct16641088 20876572 28497574 details
MMAA_HUMANMMAA_HUMANBioGRID, IntAct20876572 details