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Mib1 Gene Detail
Summary
  • Symbol
    Mib1
  • Name
    MIB E3 ubiquitin protein ligase 1
  • Synonyms
    E430019M12Rik, Mib, mindbomb, mind bomb-1, skeletrophin
  • Feature Type
    protein coding gene
  • IDs
    MGI:2443157
    NCBI Gene: 225164
  • Alliance
    gene page
  • Transcription Start Sites
    12 TSS
Location &
Maps
more
  • Sequence Map
    Chr18:10725548-10818704 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 18, 5.35 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    1905 from dbSNP Build 142
  • Strain Annotations
    17
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2443157
 protein coding gene Chr18:10725523-10822969 (+)
129S1/SvImJ MGP_129S1SvImJ_G0024151
 protein coding gene Chr18:7665806-7766292 (+)
A/J MGP_AJ_G0024113
 protein coding gene Chr18:7616193-7709168 (+)
AKR/J MGP_AKRJ_G0024080
 protein coding gene Chr18:7818057-7910992 (+)
BALB/cJ MGP_BALBcJ_G0024112
 protein coding gene Chr18:7599594-7694142 (+)
C3H/HeJ MGP_C3HHeJ_G0023879
 protein coding gene Chr18:7707256-7804102 (+)
C57BL/6NJ MGP_C57BL6NJ_G0024557
 protein coding gene Chr18:8120230-8215707 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0021996
 protein coding gene Chr18:7287440-7384373 (+)
CAST/EiJ MGP_CASTEiJ_G0023356
 protein coding gene Chr18:7603798-7704786 (+)
CBA/J MGP_CBAJ_G0023851
 protein coding gene Chr18:8181417-8276642 (+)
DBA/2J MGP_DBA2J_G0023980
 protein coding gene Chr18:7483675-7576970 (+)
FVB/NJ MGP_FVBNJ_G0023945
 protein coding gene Chr18:7430512-7524659 (+)
LP/J MGP_LPJ_G0024063
 protein coding gene Chr18:7790599-7890252 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0023974
 protein coding gene Chr18:8423904-8522265 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0024603
 protein coding gene Chr18:7645986-7745945 (+)
PWK/PhJ MGP_PWKPhJ_G0023102
 protein coding gene Chr18:7514997-7610588 (+)
SPRET/EiJ no annotation
WSB/EiJ MGP_WSBEiJ_G0023422
 protein coding gene Chr18:7621260-7716962 (+)



Homology
more
  • Human Ortholog
    MIB1, MIB E3 ubiquitin protein ligase 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MIB1, MIB E3 ubiquitin protein ligase 1
  • Synonyms
    DIP-1, DIP1, LVNC7, MIB, ZZANK2, ZZZ6
  • Links
    NCBI Gene ID: 57534
    neXtProt AC: NX_Q86YT6
    UniProt: Q86YT6

  • Chr Location
    18q11.2; chr18:21704916-21870953 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human MIB1 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
    70 phenotypes from 4 alleles in 8 genetic backgrounds
    12 phenotypes from multigenic genotypes
    34 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
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
neoplasm
vision/eye

Click cells to view annotations.
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 of posterior markers. Compound heterozygous global and conditional cardiac KO results in embryonic heart anomalies.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    38
  • GO References
    11
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    885
  • Tissues
    67
  • cDNA Data
    23
  • Literature Summary
    21
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000024294 Ensembl Gene Model | MGI Sequence Detail 93157 C57BL/6J ±  kb
    transcript ENSMUST00000052838 Ensembl | MGI Sequence Detail 10231 Not Applicable  
    polypeptide ENSMUSP00000054428 Ensembl | MGI Sequence Detail 1006 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 25
      cDNA 23
      Primer pair 1
      Other 1

      Microarray probesets 7
    References
    more
    • Summaries
      All 76
      Developmental Gene Expression 21
      Gene Ontology 11
      Phenotypes 34
    • 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:338889 Siguero-Alvarez M, et al., A Human Hereditary Cardiomyopathy Shares a Genetic Substrate With Bicuspid Aortic Valve. Circulation. 2023 Jan 3;147(1):47-65
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory