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Mmab Gene Detail
Summary
  • Symbol
    Mmab
  • Name
    methylmalonic aciduria (cobalamin deficiency) cblB type homolog (human)
  • Synonyms
    9130222L19Rik, ATP:Cob(I)alamin Adenosyltransferase
  • Feature Type
    protein coding gene
  • IDs
    MGI:1924947
    NCBI Gene: 77697
  • Gene Overview
    MyGene.info: MMAB
Location & Maps
more
  • Sequence Map
    Chr5:114431034-114444060 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      13027 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    MMAB, methylmalonic aciduria (cobalamin deficiency) cblB type
  • Vertebrate Orthologs
    8
  • Human Ortholog
    MMAB, methylmalonic aciduria (cobalamin deficiency) cblB type
    Orthology source: HomoloGene
  • Synonyms
    ATR, cblB, CFAP23, cob
  • Links
    NCBI Gene ID: 326625
    neXtProt AC: NX_Q96EY8

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

Human Diseases
more
  • Diseases
    1 with human MMAB associations

Human Disease Mouse Models
       Methylmalonic Aciduria, CblB Type   OMIM: 251110
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    10 phenotype references
  • All Mutations and Alleles
    12
  • Chemically induced (other)
    1
  • Gene trapped
    8
  • Radiation induced
    1
  • Targeted
    2
  • Genomic Mutations
    2 involving Mmab
  • Incidental Mutations
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000014461 VEGA Gene Model | MGI Sequence Detail 13027 C57BL/6J ±  kb
transcript OTTMUST00000034313 VEGA | MGI Sequence Detail 1277 Not Applicable  
polypeptide OTTMUSP00000072321 VEGA | MGI Sequence Detail 257 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    125 from dbSNP Build 142
Protein
Information
less
  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000010462 cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial
  • EC
  • InterPro Domains
    IPR016030 Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase-like
    IPR029499 ATP:cob(I)alamin adenosyltransferase, PduO-type
Molecular
Reagents
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  • All nucleic 32
    cDNA 30
    Primer pair 2

    Microarray probesets 6
References
more
  • Summaries
    All 32
    Developmental Gene Expression 2
    Gene Ontology 3
    Phenotypes 10
  • 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

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
04/26/2016
MGI 6.03
The Jackson Laboratory