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Sh3kbp1 Gene Detail
Summary
  • Symbol
    Sh3kbp1
  • Name
    SH3-domain kinase binding protein 1
  • Synonyms
    1200007H22Rik, 1700125L08Rik, 5830464D22Rik, IN85, Ruk, Seta
  • Feature Type
    protein coding gene
  • IDs
    MGI:1889583
    NCBI Gene: 58194
  • Gene Overview
    MyGene.info: SH3KBP1
Location & Maps
more
  • Sequence Map
    ChrX:159627272-159978069 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      350798 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 73.65 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    SH3KBP1, SH3 domain containing kinase binding protein 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SH3KBP1, SH3 domain containing kinase binding protein 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CD2BP3, CIN85, GIG10, HSB1, HSB-1, MIG18
  • Links
    NCBI Gene ID: 30011
    neXtProt AC: NX_Q96B97

  • Chr Location
    Xp22.1-p21.3; chrX:19533965-19887626 (-)  GRCh38.p2
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    18 phenotypes from 2 alleles in 2 genetic backgrounds
    2 phenotypes from multigenic genotypes
    6 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
    6
  • Gene trapped
    2
  • Radiation induced
    1
  • Spontaneous
    1
  • Targeted
    2
  • Genomic Mutations
    2 involving Sh3kbp1
  • Incidental Mutations
    CvDC
Mice homozygous for a null allele have an increased lean body mass, increased dopamine in the striatum and behavioral abnormalities.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    18
  • GO References
    6
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
less
  • Assay Results
    1
  • Tissues
    1
  • cDNA Data
    21
  • Literature Summary
    3
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000019443 VEGA Gene Model | MGI Sequence Detail 350798 C57BL/6J ±  kb
transcript OTTMUST00000046427 VEGA | MGI Sequence Detail 2280 Not Applicable  
polypeptide OTTMUSP00000020962 VEGA | MGI Sequence Detail 709 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    1290 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 24
    cDNA 21
    Primer pair 2
    Other 1

    Microarray probesets 8
Other
Accession IDs
less
MGI:1914697, MGI:1920887, MGI:1923337, MGI:2147886
References
more
  • Summaries
    All 38
    Developmental Gene Expression 3
    Gene Ontology 6
    Phenotypes 6
  • Earliest
    J:64312 Hyatt MA, et al., Assignment of seta to distal mouse X chromosome by radiation hybrid mapping. Cytogenet Cell Genet. 2000;89(3-4):278
  • Latest
    J:214894 Fuchigami T, et al., Dab1-mediated colocalization of multi-adaptor protein CIN85 with Reelin receptors, ApoER2 and VLDLR, in neurons. Genes Cells. 2013 May;18(5):410-24
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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Send questions and comments to User Support. 		last database update
09/13/2016
MGI 6.05 		The Jackson Laboratory