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
• Transcription Start Sites
  33 TSS

Location &
Maps

• Sequence Map
  ChrX:159627028-159975920 bp, + strand
• From NCBI annotation of GRCm38
  

  View this region in JBrowse
  
  

• Genome Browsers
  Ensembl | UCSC | NCBI

• Genetic Map
  Chromosome X, 73.65 cM
• Mapping Data
  3 experiments

Strain
Comparison

• SNPs within 2kb
  1282 from dbSNP Build 142
• Strain Annotations
  18

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1889583	protein coding gene	ChrX:159627028-159978069 (.)
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

• 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
  HGNC:13867

  NCBI Gene ID: 30011

  neXtProt AC: NX_Q96B97

  UniProt: Q96B97

  
  
• Chr Location
  Xp22.12; chrX:19533965-19887626 (-)  GRCh38.p7

---

• HomoloGene
  Vertebrate Homology Class 10971
  1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  
• HCOP
  human homology predictions: SH3KBP1
• Gene Tree
  Sh3kbp1
  

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  18 phenotypes from 2 alleles in 2 genetic backgrounds
  2 phenotypes from multigenic genotypes
  8 phenotype references
  

• All Mutations and Alleles
  6
• Gene trapped
  2
• Radiation induced
  1
• Spontaneous
  1
• Targeted
  2
• Genomic Mutations
  2 involving Sh3kbp1
• Incidental Mutations
  CvDC
• Find Mice (IMSR)
  1 strains or lines available
• Comparison Matrix
  Gene Expression + Phenotype

Mice homozygous for a null allele have an increased lean body mass, increased dopamine in the striatum and behavioral abnormalities.

Gene Ontology
(GO)
Classifications

• All GO Annotations
  19
• GO References
  7

• External Resources
  FuncBase

Expression

• Assay Results
  1
• Tissues
  1
• cDNA Data
  23
• Literature Summary
  3

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

• Other Mouse Links
  Allen Institute
  GEO
  Expression Atlas
• Other Vertebrate Links
  Xenbase sh3kbp1

Interactions

• Sh3kbp1 interacts with 464 markers (Mir1a-1, Mir1a-2, Mir7-1, ...) View All

Sequences &
Gene Models

• All Sequences
  125
• RefSeq
  36
• UniProt
  7
• CCDS
  CCDS41194.1, CCDS53234.1, CCDS53235.1

• Ensembl
  ENSMUSG00000040990 (Evidence)
• NCBI Gene
  58194

Representative Sequences			Length	Strain/Species
genomic	58194	NCBI Gene Model | MGI Sequence Detail	348893	C57BL/6J
transcript	NM_001135727	RefSeq | MGI Sequence Detail	5168	C57BL/6
polypeptide	Q8R550	UniProt | EBI | MGI Sequence Detail	709	Not Applicable

Protein
Information

• 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

• All nucleic 25

  cDNA 23

  Primer pair 2

  
  

  Microarray probesets 8

Other
Accession IDs

MGI:1914697, MGI:1920887, MGI:1923337, MGI:2147886

References

• 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

TSS for Sh3kbp1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr162498	ChrX:159627039-159627076 (+)	30 bp
Tssr162499	ChrX:159627082-159627103 (+)	65 bp
Tssr162500	ChrX:159627235-159627258 (+)	219 bp
Tssr162501	ChrX:159627265-159627298 (+)	254 bp
Tssr162502	ChrX:159627384-159627399 (+)	364 bp
Tssr162503	ChrX:159627432-159627441 (+)	409 bp
Tssr162504	ChrX:159627464-159627478 (+)	443 bp
Tssr162505	ChrX:159627500-159627514 (+)	479 bp
Tssr162506	ChrX:159627534-159627546 (+)	512 bp
Tssr162507	ChrX:159627547-159627558 (+)	525 bp
Tssr162509	ChrX:159697308-159697331 (+)	70,292 bp
Tssr162513	ChrX:159708593-159708612 (+)	81,575 bp
Tssr162514	ChrX:159708614-159708642 (+)	81,600 bp
Tssr162515	ChrX:159708655-159708660 (+)	81,630 bp
Tssr162516	ChrX:159840060-159840064 (+)	213,034 bp
Tssr162517	ChrX:159840463-159840472 (+)	213,440 bp
Tssr162518	ChrX:159840544-159840574 (+)	213,531 bp
Tssr162522	ChrX:159913983-159914004 (+)	286,966 bp
Tssr162526	ChrX:159941693-159941712 (+)	314,675 bp
Tssr162527	ChrX:159942683-159942705 (+)	315,666 bp
Tssr162528	ChrX:159942844-159942870 (+)	315,829 bp
Tssr162529	ChrX:159942889-159942902 (+)	315,868 bp
Tssr162530	ChrX:159942905-159942919 (+)	315,884 bp
Tssr162531	ChrX:159942922-159942945 (+)	315,906 bp
Tssr162532	ChrX:159942948-159942976 (+)	315,934 bp
Tssr162533	ChrX:159942980-159942994 (+)	315,959 bp
Tssr162534	ChrX:159943000-159943033 (+)	315,989 bp
Tssr162535	ChrX:159943046-159943057 (+)	316,024 bp
Tssr162536	ChrX:159943091-159943105 (+)	316,070 bp
Tssr162538	ChrX:159961762-159961798 (+)	334,752 bp
Tssr162539	ChrX:159973441-159973460 (+)	346,423 bp
Tssr162540	ChrX:159973542-159973554 (+)	346,520 bp
Tssr162541	ChrX:159973685-159973700 (+)	346,665 bp