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Tmbim1 Gene Detail
Summary
  • Symbol
    Tmbim1
  • Name
    transmembrane BAX inhibitor motif containing 1
  • Synonyms
    2310061B02Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1916910
    NCBI Gene: 69660
  • Gene Overview
    MyGene.info: TMBIM1
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr1:74288247-74305622 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      17376 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 38.53 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    TMBIM1, transmembrane BAX inhibitor motif containing 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    TMBIM1, transmembrane BAX inhibitor motif containing 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    LFG3, MST100, MSTP100, PP1201, RECS1
  • Links
    NCBI Gene ID: 64114
    neXtProt AC: NX_Q969X1
    UniProt: Q969X1

  • Chr Location
    2q35; chr2:218274192-218292577 (-)  GRCh38.p7

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    5 phenotypes from 1 allele in 1 genetic background
    12 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice homozygous for a knock-out allele exhibit susceptibility to cystic medial degeneration without inflammation or change in blood pressure and are prone to aortic dilation with age.
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
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
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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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000021738 VEGA Gene Model | MGI Sequence Detail 17376 C57BL/6J ±  kb
    transcript OTTMUST00000051568 VEGA | MGI Sequence Detail 2378 Not Applicable  
    polypeptide OTTMUSP00000024302 VEGA | MGI Sequence Detail 309 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      82 from dbSNP Build 142
    Protein
    Information
    less
    • UniProt
      8 Sequences
    • InterPro Domains
      IPR006214 Bax inhibitor 1-related
    Molecular
    Reagents
    less
    • All nucleic 16
      cDNA 16

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2138482, MGI:2138674, MGI:2146371
    References
    more
    • Summaries
      All 36
      Developmental Gene Expression 1
      Gene Ontology 3
      Phenotypes 12
    • 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:250779 Zhao GN, et al., Tmbim1 is a multivesicular body regulator that protects against non-alcoholic fatty liver disease in mice and monkeys by targeting the lysosomal degradation of Tlr4. Nat Med. 2017 Jun;23(6):742-752

    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
    07/31/2018
    MGI 6.12
    The Jackson Laboratory