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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
  • Alliance
    gene page
  • Transcription Start Sites
    44 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:158409888-158758916 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 73.65 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    6570 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1889583
 protein coding gene ChrX:158409888-158761065 (+)
129S1/SvImJ MGP_129S1SvImJ_G0036227
 protein coding gene ChrX:157529753-157890973 (+)
A/J MGP_AJ_G0036197
 protein coding gene ChrX:156810538-157176032 (+)
AKR/J MGP_AKRJ_G0036125
 protein coding gene ChrX:161795474-162156627 (+)
BALB/cJ MGP_BALBcJ_G0036190
 protein coding gene ChrX:154892337-155241175 (+)
C3H/HeJ MGP_C3HHeJ_G0035896
 protein coding gene ChrX:157935676-158299604 (+)
C57BL/6NJ MGP_C57BL6NJ_G0036712
 protein coding gene ChrX:162230248-162593598 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0033534
 protein coding gene ChrX:148078008-148426164 (+)
CAST/EiJ MGP_CASTEiJ_G0035185
 protein coding gene ChrX:136971994-137324099 (+)
CBA/J MGP_CBAJ_G0035871
 protein coding gene ChrX:166854425-167223388 (+)
DBA/2J MGP_DBA2J_G0036037
 protein coding gene ChrX:155798669-156142711 (+)
FVB/NJ MGP_FVBNJ_G0035968
 protein coding gene ChrX:154913186-155254732 (+)
LP/J MGP_LPJ_G0036122
 protein coding gene ChrX:158703634-159072376 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0036000
 protein coding gene ChrX:175532617-175905782 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0036753
 protein coding gene ChrX:157082582-157444966 (+)
PWK/PhJ MGP_PWKPhJ_G0034883
 protein coding gene ChrX:133843583-134199636 (+)
SPRET/EiJ MGP_SPRETEiJ_G0034704
 protein coding gene ChrX:137398840-137748446 (+)
WSB/EiJ MGP_WSBEiJ_G0035320
 protein coding gene ChrX:155049295-155403858 (+)



Homology
more
  • Human Ortholog
    SH3KBP1, SH3 domain containing kinase binding protein 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SH3KBP1, SH3 domain containing kinase binding protein 1
  • Synonyms
    AGMX2, CD2BP3, CIN85, GIG10, HSB-1, HSB1, IMD61, MIG18
  • Links
    NCBI Gene ID: 30011
    neXtProt AC: NX_Q96B97
    UniProt: Q96B97

  • Chr Location
    Xp22.12; chrX:19533977-19887600 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human SH3KBP1 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
    18 phenotypes from 2 alleles in 2 genetic backgrounds
    2 phenotypes from multigenic genotypes
    11 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
    32
  • GO References
    12
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
    709
  • Tissues
    3
  • cDNA Data
    23
  • Literature Summary
    5
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 58194 NCBI Gene Model | MGI Sequence Detail 349029 C57BL/6J ±  kb
    transcript NM_001374701 RefSeq | MGI Sequence Detail 5288 C57BL/6  
    polypeptide Q8R550 UniProt | EBI | MGI Sequence Detail 709 Not Applicable  
    For the selected sequence
    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
      IPR050384 Endophilin/SH3RF
      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
    • GlyGen
      Q8R550 2 sites, 2 N-linked glycans (2 sites)
    Molecular
    Reagents
    less
    • All nucleic 25
      cDNA 23
      Primer pair 2

      Microarray probesets 8
    Other
    Accession IDs
    less
    MGI:1914697, MGI:1920887, MGI:1923337, MGI:2147886
    References
    more
    • Summaries
      All 58
      Developmental Gene Expression 5
      Gene Ontology 12
      Phenotypes 11
    • 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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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)
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    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