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Ushbp1 Gene Detail
Summary
  • Symbol
    Ushbp1
  • Name
    Usher syndrome 1C binding protein 1
  • Synonyms
    2210404N08Rik, MCC2
  • Feature Type
    protein coding gene
  • IDs
    MGI:1922920
    NCBI Gene: 234395
Location & Maps
more
  • Sequence Map
    Chr8:71384274-71395801 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      11528 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 8, 34.43 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    USHBP1, USH1 protein network component harmonin binding protein 1
  • Vertebrate Orthologs
    8
  • Human Ortholog
    USHBP1, USH1 protein network component harmonin binding protein 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    AIEBP, MCC2
  • Links
    NCBI Gene ID: 83878
    neXtProt AC: NX_Q8N6Y0

  • Chr Location
    19p13; chr19:17250021-17264796 (-)  GRCh38.p2

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    1 phenotype from 1 allele in 1 genetic background
    9 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.
  • All Mutations and Alleles
    7
  • Chemically induced (other)
    1
  • Gene trapped
    4
  • Targeted
    2
  • Genomic Mutations
    1 involving Ushbp1
  • Incidental Mutations
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
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
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000034911 Ensembl Gene Model | MGI Sequence Detail 11528 C57BL/6J ±  kb
transcript ENSMUST00000049184 Ensembl | MGI Sequence Detail 3549 Not Applicable  
polypeptide ENSMUSP00000045668 Ensembl | MGI Sequence Detail 680 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    127 from dbSNP Build 142
Protein
Information
less
  • UniProt
    1 Sequence
  • Protein Ontology
    PR:000017142 Usher syndrome type-1C protein-binding protein 1
  • InterPro Domains
    IPR019536 Usher syndrome type-1C protein-binding protein 1, PDZ domain
Molecular
Reagents
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  • All nucleic 21
    cDNA 20
    Primer pair 1

    Microarray probesets 3
References
more
  • Summaries
    All 28
    Developmental Gene Expression 2
    Gene Ontology 2
    Phenotypes 9
  • 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:177409 Young T, et al., Mutated in colorectal cancer (Mcc), a candidate tumor suppressor, is dynamically expressed during mouse embryogenesis. Dev Dyn. 2011 Sep;240(9):2166-74

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
07/19/2016
MGI 6.04
The Jackson Laboratory