About   Help   FAQ
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
  • Alliance
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:114431034-114444060 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 55.99 cM, cytoband F
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    125 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1924947
protein coding gene Chr5:114431034-114444075 (-)
129S1/SvImJ MGP_129S1SvImJ_G0029938
protein coding gene Chr5:117169357-117183717 (-)
A/J MGP_AJ_G0029903
protein coding gene Chr5:112568957-112582057 (-)
AKR/J MGP_AKRJ_G0029841
protein coding gene Chr5:116140233-116153029 (-)
BALB/cJ MGP_BALBcJ_G0029914
protein coding gene Chr5:113933313-113945987 (-)
C3H/HeJ MGP_C3HHeJ_G0029634
protein coding gene Chr5:116642844-116655533 (-)
C57BL/6NJ MGP_C57BL6NJ_G0030368
protein coding gene Chr5:121692066-121706650 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0027596
protein coding gene Chr5:107392424-107404510 (-)
CAST/EiJ MGP_CASTEiJ_G0029042
protein coding gene Chr5:115578485-115592116 (-)
CBA/J MGP_CBAJ_G0029601
protein coding gene Chr5:126336279-126352392 (-)
DBA/2J MGP_DBA2J_G0029751
protein coding gene Chr5:112626943-112639933 (-)
FVB/NJ MGP_FVBNJ_G0029708
protein coding gene Chr5:111434686-111449071 (-)
LP/J MGP_LPJ_G0029840
protein coding gene Chr5:117738963-117753435 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0029739
protein coding gene Chr5:130760119-130773081 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0030409
protein coding gene Chr5:115611976-115625822 (-)
PWK/PhJ MGP_PWKPhJ_G0028756
protein coding gene Chr5:111281218-111296319 (-)
SPRET/EiJ MGP_SPRETEiJ_G0028594
protein coding gene Chr5:113151075-113165779 (-)
WSB/EiJ MGP_WSBEiJ_G0029118
protein coding gene Chr5:116178579-116200011 (-)



Homology
more
  • Human Ortholog
    MMAB, metabolism of cobalamin associated B
  • Vertebrate Orthologs
    8
  • Human Ortholog
    MMAB, metabolism of cobalamin associated B
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ATR, cblB, CFAP23, cob
  • Links
    NCBI Gene ID: 326625
    neXtProt AC: NX_Q96EY8
    UniProt: Q96EY8

  • Chr Location
    12q24.11; chr12:109553715-109573553 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with human MMAB associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    10 phenotype references
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

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

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
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
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000029575 Ensembl Gene Model | MGI Sequence Detail 13027 C57BL/6J ±  kb
transcript ENSMUST00000123256 Ensembl | MGI Sequence Detail 1277 Not Applicable  
polypeptide ENSMUSP00000142979 Ensembl | MGI Sequence Detail 257 Not Applicable  
For the selected sequence
Protein
Information
less
  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000010462 cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial
  • EC
  • InterPro Domains
    IPR029499 ATP:cob(I)alamin adenosyltransferase, PduO-type
    IPR016030 Cobalamin adenosyltransferase-like
    IPR036451 Cobalamin adenosyltransferase-like superfamily
Molecular
Reagents
less
  • All nucleic 33
    cDNA 31
    Primer pair 2

    Microarray probesets 6
References
more
  • Summaries
    All 38
    Developmental Gene Expression 2
    Gene Ontology 4
    Phenotypes 10
  • Earliest
    J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
  • 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
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
11/06/2018
MGI 6.13
The Jackson Laboratory