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Mmaa
Gene Detail
Symbol

Name
ID
Mmaa
methylmalonic aciduria (cobalamin deficiency) type A
MGI:1923805
Synonyms
2810018E08Rik
Feature Type
protein coding gene
Genetic Map
Chromosome 8
37.51 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr8:79266424-79294956 bp, - strand
From Ensembl annotation of GRCm38

  28533 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:14586  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: MMAA
Gene Tree: Mmaa

Human
homologs
MMAA, methylmalonic aciduria (cobalamin deficiency) cblA type
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 166785
neXtProt AC: NX_Q8IVH4

Human Synonyms: cblA

Human Chr (Location): 4q31.21; chr4:145619388-145660035 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human MMAA

Mutations,
alleles, and
phenotypes
All mutations/alleles(10) : Gene trapped(9) Targeted(1)
Incidental mutations (data from APF )
Interactions
Mmaa interacts with 170 markers (Mir10a, Mir17, Mir18, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (5 annotations)
Process biological_process
Component mitochondrion
Function GTP binding, hydrolase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (2 records)
Data Summary: Results (31)    Tissues (30)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 31
cDNA source data(26)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase mmaa    NEW 
Molecular
reagents
All nucleic(27) cDNA(26) Primer pair(1)
Microarray probesets(3)
Other database
links
Ensembl Gene Model ENSMUSG00000037022 (Evidence)
Entrez Gene 109136 (Evidence)
UniGene 26510
DFCI TC1578414, TC1684719
DoTS DT.484690
NIA Mouse Gene Index U093050
EC 3.6.-.-
Consensus CDS Project CCDS22436.1
International Mouse Phenotyping Consortium Status Mmaa
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000037022 Ensembl Gene Model | MGI Sequence Detail 28533 C57BL/6J ±  kb
transcript ENSMUST00000048718 Ensembl | MGI Sequence Detail 2843 Not Applicable 
polypeptide ENSMUSP00000048826 Ensembl | MGI Sequence Detail 415 Not Applicable 

For the selected sequences
All sequences(51) RefSeq(36) UniProt(1)
Polymorphisms
SNPs within 2kb(96 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR003593 AAA+ ATPase domain
InterPro IPR005129 ArgK protein
InterPro IPR027417 P-loop containing nucleoside triphosphate hydrolase
Protein Ontology PR:000010912 methylmalonic aciduria type A, mitochondrial
References
(Earliest) J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
(Latest) J:190313 Moreno-Garcia MA, et al., The methylmalonic aciduria related genes, Mmaa, Mmab, and Mut, are broadly expressed in placental and embryonic tissues during mouse organogenesis. Mol Genet Metab. 2012 Nov;107(3):368-74
All references(28)
Other
accession IDs
MGI:2138332

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/25/2015
MGI 6.0
The Jackson Laboratory