• Gene id: 8874

Gene Summary

• Gene Symbol: ARHGEF7   Gene   UCSC   Ensembl
• Aliases: BETA-PIX, COOL-1, COOL1, Nbla10314, P50, P50BP, P85, P85COOL1, P85SPR, PAK3, PIXB
• Gene name: Rho guanine nucleotide exchange factor 7
• Alternate names: rho guanine nucleotide exchange factor 7, PAK-interacting exchange factor beta, Rho guanine nucleotide exchange factor (GEF) 7, SH3 domain-containing proline-rich protein,
• Gene location: 13q34 (111114618: 111305733)     Exons: 31     NC_000013.11
• Gene summary(Entrez): This gene encodes a protein that belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It forms a complex with the small GTP binding protein Rac1 and recruits Rac1 to membrane ruffle
• OMIM: 605477

Protein Summary

• Protein general information: Q14155  
  • Name: Rho guanine nucleotide exchange factor 7 (Beta Pix) (COOL 1) (PAK interacting exchange factor beta) (p85)
  • Length: 803  
  • Mass: 90012
• Sequence:

  MNSAEQTVTWLITLGVLESPKKTISDPEGFLQASLKDGVVLCRLLERLLPGTIEKVYPEPRSESECLSNIREFLR
  GCGASLRLELLFPPSQPPQHLVTTILLSASTFDANDLYQGQNFNKVLSSLVTLNKVTADIGLGSDSVCARPSSHR
  IKSFDSLGSQSLHTRTSKLFQGQYRSLDMTDNSNNQLVVRAKFNFQQTNEDELSFSKGDVIHVTRVEEGGWWEGT
  LNGRTGWFPSNYVREVKASEKPVSPKSGTLKSPPKGFDTTAINKSYYNVVLQNILETENEYSKELQTVLSTYLRP
  LQTSEKLSSANISYLMGNLEEICSFQQMLVQSLEECTKLPEAQQRVGGCFLNLMPQMKTLYLTYCANHPSAVNVL
  TEHSEELGEFMETKGASSPGILVLTTGLSKPFMRLDKYPTLLKELERHMEDYHTDRQDIQKSMAAFKNLSAQCQE
  VRKRKELELQILTEAIRNWEGDDIKTLGNVTYMSQVLIQCAGSEEKNERYLLLFPNVLLMLSASPRMSGFIYQGK
  LPTTGMTITKLEDSENHRNAFEISGSMIERILVSCNNQQDLQEWVEHLQKQTKVTSVGNPTIKPHSVPSHTLPSH
  PVTPSSKHADSKPAPLTPAYHTLPHPSHHGTPHTTINWGPLEPPKTPKPWSLSCLRPAPPLRPSAALCYKEDLSK
  SPKTMKKLLPKRKPERKPSDEEFASRKSTAALEEDAQILKVIEAYCTSAKTRQTLNSTWQGTDLMHNHVLADDDQ
  PSLDSLGRRSSLSRLEPSDLSEDSDYDSIWTAHSYRMGSTSRKSCCSYISHQN

• Structural information:
  • Protein Domains: (1..13-)
    (/note="Calponin-homology-(CH))
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00044-)
    (184..24-)
    (/note="SH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192-)
    (271..45-)
    (/note="DH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU0-)
  • Interpro: IPR035789  IPR001715  IPR036872  IPR035899  IPR000219   IPR001331  IPR011993  IPR001849  IPR036028  IPR001452  
  • Prosite: PS50021 PS00741 PS50010 PS50003 PS50002
  • CDD: cd00160 cd12061
  • PDB: 1BY1 1ZSG 2L3G 5SXP
  • PDBsum: 1BY1 1ZSG 2L3G 5SXP
  • DIP: 40794
  • STRING: ENSP00000364893
• Other Databases: GeneCards:  ARHGEF7  Malacards:  ARHGEF7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1904424	regulation of GTP binding	IMP	biological process
GO:0007030	Golgi organization	IMP	biological process
GO:0030032	lamellipodium assembly	ISS	biological process
GO:0043065	positive regulation of apoptotic process	IMP	biological process
GO:0030027	lamellipodium	ISS	cellular component
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:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0007399	nervous system development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0007165	signal transduction	TAS	biological process
GO:0005085	guanyl-nucleotide exchange factor activity	EXP	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	EXP	molecular function
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0042059	negative regulation of epidermal growth factor receptor signaling pathway	TAS	biological process
GO:0043065	positive regulation of apoptotic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0048013	ephrin receptor signaling pathway	TAS	biological process
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: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: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:0005085	guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:0019901	protein kinase binding	IPI	molecular function
GO:0043005	neuron projection	IDA	cellular component
GO:0043025	neuronal cell body	IDA	cellular component
GO:0043547	positive regulation of GTPase activity	IDA	biological process
GO:0030027	lamellipodium	IEA	cellular component
GO:0005925	focal adhesion	IEA	cellular component
GO:0005938	cell cortex	IEA	cellular component
GO:0001726	ruffle	IEA	cellular component
GO:0032991	protein-containing complex	IDA	cellular component
GO:0048041	focal adhesion assembly	HDA	biological process
GO:2000394	positive regulation of lamellipodium morphogenesis	HMP	biological process
GO:0010763	positive regulation of fibroblast migration	HDA	biological process
GO:0043547	positive regulation of GTPase activity	HMP	biological process
GO:0005925	focal adhesion	HDA	cellular component
GO:1900026	positive regulation of substrate adhesion-dependent cell spreading	HMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04810	Regulation of actin cytoskeleton
hsa05135	Yersinia infection

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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq