• Gene id: 64333

Gene Summary

• Gene Symbol: ARHGAP9   Gene   UCSC   Ensembl
• Aliases: 10C, RGL1
• Gene name: Rho GTPase activating protein 9
• Alternate names: rho GTPase-activating protein 9, rho-type GTPase-activating protein 9,
• Gene location: 12q13.3 (131531274: 131523795)     Exons: 8     NC_000009.12
• Gene summary(Entrez): This gene encodes a member of the Rho-GAP family of GTPase activating proteins. The protein has substantial GAP activity towards several Rho-family GTPases in vitro, converting them to an inactive GDP-bound state. It is implicated in regulating adhesion o
• OMIM: 610576

Protein Summary

• Protein general information: Q9BRR9  
  • Name: Rho GTPase activating protein 9 (Rho type GTPase activating protein 9)
  • Length: 750  
  • Mass: 83260
  • Tissue specificity: Predominantly expressed in peripheral blood leukocytes, spleen, and thymus. {ECO
• Sequence:

  MLSSRWWPSSWGILGLGPRSPPRGSQLCALYAFTYTGADGQQVSLAEGDRFLLLRKTNSDWWLARRLEAPSTSRP
  IFVPAAYMIEESIPSQSPTTVIPGQLLWTPGPKLFHGSLEELSQALPSRAQASSEQPPPLPRKMCRSVSTDNLSP
  SLLKPFQEGPSGRSLSQEDLPSEASASTAGPQPLMSEPPVYCNLVDLRRCPRSPPPGPACPLLQRLDAWEQHLDP
  NSGRCFYINSLTGCKSWKPPRRSRSETNPGSMEGTQTLKRNNDVLQPQAKGFRSDTGTPEPLDPQGSLSLSQRTS
  QLDPPALQAPRPLPQLLDDPHEVEKSGLLNMTKIAQGGRKLRKNWGPSWVVLTGNSLVFYREPPPTAPSSGWGPA
  GSRPESSVDLRGAALAHGRHLSSRRNVLHIRTIPGHEFLLQSDHETELRAWHRALRTVIERLVRWVEARREAPTG
  RDQGSGDRENPLELRLSGSGPAELSAGEDEEEESELVSKPLLRLSSRRSSIRGPEGTEQNRVRNKLKRLIAKRPP
  LQSLQERGLLRDQVFGCQLESLCQREGDTVPSFLRLCIAAVDKRGLDVDGIYRVSGNLAVVQKLRFLVDRERAVT
  SDGRYVFPEQPGQEGRLDLDSTEWDDIHVVTGALKLFLRELPQPLVPPLLLPHFRAALALSESEQCLSQIQELIG
  SMPKPNHDTLRYLLEHLCRVIAHSDKNRMTPHNLGIVFGPTLFRPEQETSDPAAHALYPGQLVQLMLTNFTSLFP

• Structural information:
  • Protein Domains: (22..8-)
    (/note="SH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192-)
    (213..24-)
    (/note="WW-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00224-)
    (322..43-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145-)
    (542..7-)
  • Interpro: IPR035465  IPR011993  IPR001849  IPR008936  IPR000198   IPR036028  IPR001452  IPR001202  IPR036020  
  • Prosite: PS50003 PS50238 PS50002 PS50020
  • CDD: cd12143 cd00201
  • PDB: 2P0D 2P0F 2P0H
  • PDBsum: 2P0D 2P0F 2P0H
  • STRING: ENSP00000377380
• Other Databases: GeneCards:  ARHGAP9  Malacards:  ARHGAP9

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0043087	regulation of GTPase activity	IBA	biological process
GO:0005547	phosphatidylinositol-3,4,5-trisphosphate binding	IDA	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0008289	lipid binding	IEA	molecular function
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005096	GTPase activator activity	IDA	molecular function
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0034774	secretory granule lumen	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: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:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Spermatogenic defects	MIK: 31037746
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray