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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

HCOP human homology predictions: MMAB
Protein SuperFamily: ATP:cob(I)alamin adenosyltransferase, monofunctional PduO type
Gene Tree: Mmab

Human
homologs
MMAB, methylmalonic aciduria (cobalamin deficiency) cblB type
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 326625
neXtProt AC: NX_Q96EY8

Human Synonyms: ATR, cblB, CFAP23, cob

Human Chr (Location): 12q24; chr12:109553715-109573553 (-)  GRCh38.p2

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 249 markers (Mir1b, Mir7-1, Mir7-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (6 annotations)
Process cobalamin metabolic process
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 (125)    Tissues (125)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 125
cDNA source data(30)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase mmab ; ZFIN mmab    NEW 
Molecular
reagents
All nucleic(32) cDNA(30) Primer pair(2)
Microarray probesets(6)
Other database
links
VEGA Gene Model OTTMUSG00000014461 (Evidence)
Ensembl Gene Model ENSMUSG00000029575 (Evidence)
Entrez Gene 77697 (Evidence)
UniGene 105182
DFCI TC1581987, TC1592171
DoTS DT.101358031, DT.496323, DT.524940
NIA Mouse Gene Index U026602
EC 2.5.1.17
Consensus CDS Project CCDS19565.1
International Mouse Phenotyping Consortium Status Mmab
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(42) RefSeq(4) 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(35)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
08/18/2015
MGI 6.0
The Jackson Laboratory