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Mib1 Gene Detail
Summary
  • Symbol
    Mib1
  • Name
    mindbomb E3 ubiquitin protein ligase 1
  • Synonyms
    E430019M12Rik, Mib, mind bomb-1, skeletrophin
  • Feature Type
    protein coding gene
  • IDs
    MGI:2443157
    NCBI Gene: 225164
  • Gene Overview
    MyGene.info: MIB1
Location & Maps
more
  • Sequence Map
    Chr18:10725548-10818704 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      93157 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    MIB1, mindbomb E3 ubiquitin protein ligase 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    MIB1, mindbomb E3 ubiquitin protein ligase 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    DIP1, DIP-1, LVNC7, MIB, ZZANK2, ZZZ6
  • Links
    NCBI Gene ID: 57534
    neXtProt AC: NX_Q86YT6

  • Chr Location
    18q11.2; chr18:21740793-21870957 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 10810
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: MIB1
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human MIB1 associations

Human Disease Mouse Models
       Left Ventricular Noncompaction 7; LVNC7   OMIM: 615092
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    60 phenotypes from 3 alleles in 7 genetic backgrounds
    2 phenotypes from multigenic genotypes
    22 phenotype references
Phenotype Overview

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

Click cells to view annotations.
  • All Mutations and Alleles
    11
  • Gene trapped
    5
  • Targeted
    6
  • Incidental Mutations
Homozygous null mice display embryonic lethality during organogenesis, failure of heart looping, impaired angiogenesis and arterial specification, premature neuronal precursor differentiation, posterior truncation, and abnormal somitogenesis with loss ofposterior markers.
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 OTTMUSG00000028579 VEGA Gene Model | MGI Sequence Detail 93157 C57BL/6J ±  kb
transcript OTTMUST00000070815 VEGA | MGI Sequence Detail 10231 Not Applicable  
polypeptide OTTMUSP00000036148 VEGA | MGI Sequence Detail 1006 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    268 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
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  • All nucleic 23
    cDNA 21
    Primer pair 1
    Other 1

    Microarray probesets 7
References
more
  • Summaries
    All 56
    Developmental Gene Expression 13
    Gene Ontology 10
    Phenotypes 22
  • Earliest
    J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
  • Latest
    J:224011 Pardo-Saganta A, et al., Injury induces direct lineage segregation of functionally distinct airway basal stem/progenitor cell subpopulations. Cell Stem Cell. 2015 Feb 5;16(2):184-97

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
04/26/2016
MGI 6.03
The Jackson Laboratory