• Gene id: 23616

Gene Summary

• Gene Symbol: SH3BP1   Gene   UCSC   Ensembl
• Aliases: ARHGAP43
• Gene name: SH3 domain binding protein 1
• Alternate names: SH3 domain-binding protein 1, 3BP-1,
• Gene location: 22q13.1 (37639668: 37656116)     Exons: 18     NC_000022.11
• Gene summary(Entrez): This gene encodes a member of the Rho GTPase activating protein (RhoGAP) family. The encoded protein regulates Rac signaling and plays a role in cytoskeletal dynamics, cell motility and epithelial junction formation. This protein's association with the ex
• OMIM: 615698

Protein Summary

• Protein general information: Q9Y3L3  
  • Name: SH3 domain binding protein 1
  • Length: 701  
  • Mass: 75713
• Sequence:

  MMKRQLHRMRQLAQTGSLGRTPETAEFLGEDLLQVEQRLEPAKRAAHNIHKRLQACLQGQSGADMDKRVKKLPLM
  ALSTTMAESFKELDPDSSMGKALEMSCAIQNQLARILAEFEMTLERDVLQPLSRLSEEELPAILKHKKSLQKLVS
  DWNTLKSRLSQATKNSGSSQGLGGSPGSHSHTTMANKVETLKEEEEELKRKVEQCRDEYLADLYHFVTKEDSYAN
  YFIRLLEIQADYHRRSLSSLDTALAELRENHGQADHSPSMTATHFPRVYGVSLATHLQELGREIALPIEACVMML
  LSEGMKEEGLFRLAAGASVLKRLKQTMASDPHSLEEFCSDPHAVAGALKSYLRELPEPLMTFDLYDDWMRAASLK
  EPGARLQALQEVCSRLPPENLSNLRYLMKFLARLAEEQEVNKMTPSNIAIVLGPNLLWPPEKEGDQAQLDAASVS
  SIQVVGVVEALIQSADTLFPGDINFNVSGLFSAVTLQDTVSDRLASEELPSTAVPTPATTPAPAPAPAPAPAPAL
  ASAATKERTESEVPPRPASPKVTRSPPETAAPVEDMARRTKRPAPARPTMPPPQVSGSRSSPPAPPLPPGSGSPG
  TPQALPRRLVGSSLRAPTVPPPLPPTPPQPARRQSRRSPASPSPASPGPASPSPVSLSNPAQVDLGAATAEGGAP
  EAISGVPTPPAIPPQPRPRSLASETN

• Structural information:
  • Protein Domains: (17..26-)
    (/note="BAR-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00361-)
    (276..46-)
    (/note="Rho-GAP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00172"-)
  • Interpro: IPR027267  IPR004148  IPR008936  IPR000198  
  • Prosite: PS51021 PS50238
  • PDB: 4J9D 4J9F
  • PDBsum: 4J9D 4J9F
  • STRING: ENSP00000350018
• Other Databases: GeneCards:  SH3BP1  Malacards:  SH3BP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005829	cytosol	IBA	cellular component
GO:0005096	GTPase activator activity	IBA	molecular function
GO:0032956	regulation of actin cytoskeleton organization	IBA	biological process
GO:0035020	regulation of Rac protein signal transduction	IBA	biological process
GO:0043547	positive regulation of GTPase activity	IBA	biological process
GO:0048365	Rac GTPase binding	IBA	molecular function
GO:0001891	phagocytic cup	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005923	bicellular tight junction	IDA	cellular component
GO:0005912	adherens junction	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0000145	exocyst	IDA	colocalizes with
GO:0031252	cell leading edge	IDA	cellular component
GO:0051058	negative regulation of small GTPase mediated signal transduction	IMP	biological process
GO:0051058	negative regulation of small GTPase mediated signal transduction	IMP	biological process
GO:0007015	actin filament organization	IMP	biological process
GO:0007015	actin filament organization	IMP	biological process
GO:0034329	cell junction assembly	IMP	biological process
GO:0051058	negative regulation of small GTPase mediated signal transduction	IMP	biological process
GO:0016477	cell migration	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0045198	establishment of epithelial cell apical/basal polarity	IMP	biological process
GO:0071526	semaphorin-plexin signaling pathway	IMP	biological process
GO:0006911	phagocytosis, engulfment	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043547	positive regulation of GTPase activity	IMP	biological process
GO:0005096	GTPase activator activity	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0017124	SH3 domain binding	IEA	molecular function
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0006909	phagocytosis	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0001891	phagocytic cup	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005912	adherens junction	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0030027	lamellipodium	IDA	cellular component
GO:0030215	semaphorin receptor binding	IPI	molecular function
GO:0032956	regulation of actin cytoskeleton organization	IMP	biological process
GO:0005096	GTPase activator activity	IMP	molecular function
GO:0030834	regulation of actin filament depolymerization	IMP	biological process
GO:0043535	regulation of blood vessel endothelial cell migration	IMP	biological process
GO:0043547	positive regulation of GTPase activity	IMP	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray