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 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 3 chicken; 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, cob
Human Chr (Location)		12q24; chr12:109991520-110011358 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human MMAB

Alleles and phenotypes

All alleles(10) : Targeted(2) Gene trapped(8)

Gene Ontology (GO) classifications

All GO classifications: (6 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 Type	Results
RNA in situ	94

cDNA source data(29)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(30) cDNA(29) Primer pair(1)
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 Knockout Project Status	Mmab

Sequences

Length	Strain/Species
genomic	OTTMUSG00000014461	VEGA Gene Model | MGI Sequence Detail	13026	C57BL/6J
transcript	OTTMUST00000034310	VEGA | MGI Sequence Detail	3019	Not Applicable
polypeptide	OTTMUSP00000015365	VEGA | MGI Sequence Detail	237	Not Applicable

All sequences(40) RefSeq(2) UniProt(3)

Polymorphisms

SNPs(84 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR002779	Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase, EutT/PduO type
InterPro	IPR016030	Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase-like
InterPro	IPR017858	Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase, PduO-type, N-terminal
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(38)