• Gene id: 55114

Gene Summary

• Gene Symbol: ARHGAP17   Gene   UCSC   Ensembl
• Aliases: MST066, MST110, MSTP038, MSTP066, MSTP110, NADRIN, PP367, PP4534, RICH-1, RICH1, WBP15
• Gene name: Rho GTPase activating protein 17
• Alternate names: rho GTPase-activating protein 17, RhoGAP interacting with CIP4 homologs 1, neuron-associated developmentally regulated protein, rho-type GTPase-activating protein 17,
• Gene location: 16p12.1 (25015600: 24919388)     Exons: 26     NC_000016.10
• Gene summary(Entrez): RICH1 is a GTPase-activating protein (GAP). GAPs stimulate the intrinsic GTP hydrolysis of small G proteins, such as RHOA (MIM 165390), RAC1 (MIM 602048), and CDC42 (MIM 116952).[supplied by OMIM, Apr 2004]
• OMIM: 608293

Protein Summary

• Protein general information: Q68EM7  
  • Name: Rho GTPase activating protein 17 (Rho type GTPase activating protein 17) (RhoGAP interacting with CIP4 homologs protein 1) (RICH 1)
  • Length: 881  
  • Mass: 95437
  • Tissue specificity: Ubiquitously expressed. Expressed at higher level in heart and placenta. {ECO
• Sequence:

  MKKQFNRMKQLANQTVGRAEKTEVLSEDLLQIERRLDTVRSICHHSHKRLVACFQGQHGTDAERRHKKLPLTALA
  QNMQEASTQLEDSLLGKMLETCGDAENQLALELSQHEVFVEKEIVDPLYGIAEVEIPNIQKQRKQLARLVLDWDS
  VRARWNQAHKSSGTNFQGLPSKIDTLKEEMDEAGNKVEQCKDQLAADMYNFMAKEGEYGKFFVTLLEAQADYHRK
  ALAVLEKTLPEMRAHQDKWAEKPAFGTPLEEHLKRSGREIALPIEACVMLLLETGMKEEGLFRIGAGASKLKKLK
  AALDCSTSHLDEFYSDPHAVAGALKSYLRELPEPLMTFNLYEEWTQVASVQDQDKKLQDLWRTCQKLPPQNFVNF
  RYLIKFLAKLAQTSDVNKMTPSNIAIVLGPNLLWARNEGTLAEMAAATSVHVVAVIEPIIQHADWFFPEEVEFNV
  SEAFVPLTTPSSNHSFHTGNDSDSGTLERKRPASMAVMEGDLVKKESFGVKLMDFQAHRRGGTLNRKHISPAFQP
  PLPPTDGSTVVPAGPEPPPQSSRAESSSGGGTVPSSAGILEQGPSPGDGSPPKPKDPVSAAVPAPGRNNSQIASG
  QNQPQAAAGSHQLSMGQPHNAAGPSPHTLRRAVKKPAPAPPKPGNPPPGHPGGQSSSGTSQHPPSLSPKPPTRSP
  SPPTQHTGQPPGQPSAPSQLSAPRRYSSSLSPIQAPNHPPPQPPTQATPLMHTKPNSQGPPNPMALPSEHGLEQP
  SHTPPQTPTPPSTPPLGKQNPSLPAPQTLAGGNPETAQPHAGTLPRPRPVPKPRNRPSVPPPPQPPGVHSAGDSS
  LTNTAPTASKIVTDSNSRVSEPHRSIFPEMHSDSASKDVPGRILLDIDNDTESTAL

• Structural information:
  • Protein Domains: (14..24-)
    (/note="BAR-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00361-)
    (252..44-)
    (/note="Rho-GAP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00172"-)
  • Interpro: IPR027267  IPR004148  IPR008936  IPR000198  
  • Prosite: PS51021 PS50238
  • STRING: ENSP00000289968
• Other Databases: GeneCards:  ARHGAP17  Malacards:  ARHGAP17

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0017156	calcium-ion regulated exocytosis	IBA	biological process
GO:0007015	actin filament organization	IBA	biological process
GO:0005829	cytosol	IBA	cellular component
GO:0048365	Rac GTPase binding	IBA	molecular function
GO:0035020	regulation of Rac protein signal transduction	IBA	biological process
GO:0032956	regulation of actin cytoskeleton organization	IBA	biological process
GO:0005096	GTPase activator activity	IBA	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0017124	SH3 domain binding	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0051056	regulation of small GTPase mediated signal transduction	TAS	biological process
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:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04530	Tight junction

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq