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Mmab
Gene Detail
 Symbol
Name
ID
Mmab
methylmalonic aciduria (cobalamin deficiency) type B homolog (human)
MGI:1924947
Synonyms 9130222L19Rik, ATP:Cob(I)alamin Adenosyltransferase
Feature Type protein coding gene
Genetic Map
Chromosome 5
55.99 cM, cytoband F
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr5:114431034-114444059 bp, - strand
From VEGA annotation of GRCm38

  13026 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:12680  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 zebrafish

Protein SuperFamily: ATP:cob(I)alamin adenosyltransferase, monofunctional PduO type
Gene Tree: Mmab

Human
homologs
Human Homolog MMAB, methylmalonic aciduria (cobalamin deficiency) cblB type
NCBI Gene ID 326625
neXtProt AC  NX_Q96EY8
Human Synonyms  ATR, cblB, CFAP23, cob
Human Chr (Location)  12q24; chr12:109553715-109573553 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human MMAB
Mutations,
alleles, and
phenotypes
All mutations/alleles(10) : Gene trapped(8) Targeted(2)
Incidental mutations (data from Mutagenetix , APF )
Interactions
Mmab interacts with 250 markers (Mir1b, Mir7-1, Mir7-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (5 annotations)
Component mitochondrion
Function ATP binding, cob(I)yrinic acid a,c-diamide adenosyltransferase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (2 records)
Data Summary: Results (94)    Tissues (94)   
Theiler Stages: 22
Assay TypeResults
RNA in situ 94
cDNA source data(29)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(30) cDNA(29) Primer pair(1)
Microarray probesets(6)
Other database
links
VEGA Gene ModelOTTMUSG00000014461 (Evidence)
Ensembl Gene ModelENSMUSG00000029575 (Evidence)
Entrez Gene77697 (Evidence)
UniGene105182
DFCITC1581987, TC1592171
DoTSDT.101358031, DT.496323, DT.524940
NIA Mouse Gene IndexU026602
EC2.5.1.17
Consensus CDS ProjectCCDS19565.1
International Mouse Knockout Project StatusMmab
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000014461 VEGA Gene Model | MGI Sequence Detail 13026 C57BL/6J ±  kb
transcript OTTMUST00000034310 VEGA | MGI Sequence Detail 3019 Not Applicable 
polypeptide OTTMUSP00000015365 VEGA | MGI Sequence Detail 237 Not Applicable 

For the selected sequences
All sequences(46) RefSeq(8) UniProt(3)
Polymorphisms SNPs within 2kb(126 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR016030 Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase-like
Protein Ontology PR:000010462 cob(I)yrinic acid a,c-diamide adenosyltransferase, 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(37)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/02/2014
MGI 5.19
The Jackson Laboratory