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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
  • Alliance
    gene page
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
    UniProt: Q96B97

  • Chr Location
    Xp22.12; chrX:19533965-19887626 (-)  GRCh38.p7
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    18 phenotypes from 2 alleles in 2 genetic backgrounds
    2 phenotypes from multigenic genotypes
    8 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.
Mice homozygous for a null allele have an increased lean body mass, increased dopamine in the striatum and behavioral abnormalities.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    19
  • GO References
    7
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
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
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    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
    • UniProt
      7 Sequences
    • Protein Ontology
      PR:000014828 SH3 domain-containing kinase-binding protein 1
      (term hierarchy)
    • PDB
      1WI7, 2DA9, 5XHZ
    • InterPro Domains
      IPR001452 SH3 domain
      IPR035770 SH3 domain-containing kinase-binding protein 1, first SH3 domain
      IPR035771 SH3 domain-containing kinase-binding protein 1, second SH3 domain
      IPR035772 SH3 domain-containing kinase-binding protein 1, third SH3 domain
      IPR036028 SH3-like domain superfamily
    Molecular
    Reagents
    less
    • All nucleic 23
      cDNA 21
      Primer pair 2

      Microarray probesets 8
    Other
    Accession IDs
    less
    MGI:1914697, MGI:1920887, MGI:1923337, MGI:2147886
    References
    more
    • Summaries
      All 47
      Developmental Gene Expression 3
      Gene Ontology 7
      Phenotypes 8
    • Earliest
      J:46359 Blair HJ, et al., Mouse mutants carrying deletions that remove the genes mutated in Coffin-Lowry syndrome and lactic acidosis. Hum Mol Genet. 1998 Mar;7(3):549-55
    • Latest
      J:255189 Sairenji TJ, et al., Maternal prolactin during late pregnancy is important in generating nurturing behavior in the offspring. Proc Natl Acad Sci U S A. 2017 Dec 5;114(49):13042-13047
    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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    06/12/2018
    MGI 6.12     		The Jackson Laboratory