• Gene id: 9639

Gene Summary

• Gene Symbol: ARHGEF10   Gene   UCSC   Ensembl
• Aliases: GEF10, SNCV
• Gene name: Rho guanine nucleotide exchange factor 10
• Alternate names: rho guanine nucleotide exchange factor 10, Rho guanine nucleotide exchange factor (GEF) 10,
• Gene location: 8p23.3 (1823925: 1958640)     Exons: 32     NC_000008.11
• Gene summary(Entrez): This gene encodes a Rho guanine nucleotide exchange factor (GEF). Rho GEFs regulate the activity of small Rho GTPases by stimulating the exchange of guanine diphosphate (GDP) for guanine triphosphate (GTP) and may play a role in neural morphogenesis. Muta
• OMIM: 608136

Protein Summary

• Protein general information: O15013  
  • Name: Rho guanine nucleotide exchange factor 10
  • Length: 1369  
  • Mass: 151612
• Sequence:

  MRPPGFLSRAPSLNRAERGIWSCSMDQREPLPPAPAENEMKYDTNNNEEEEGEQFDFDSGDEIPEADRQAPSAPE
  TGGAGASEAPAPTGGEDGAGAETTPVAEPTKLVLPMKVNPYSVIDITPFQEDQPPTPVPSAEEENVGLHVPCGYL
  VPVPCGYAVPSNLPLLLPAYSSPVIICATSLDEEAETPEVTEDRQPNSLSSEEPPTSEDQVGREDSALARWAADP
  ANTAWMENPEEAIYDDVPRENSDSEPDEMIYDDVENGDEGGNSSLEYGWSSSEFESYEEQSDSECKNGIPRSFLR
  SNHKKQLSHDLTRLKEHYEKKMRDLMASTVGVVEIQQLRQKHELKMQKLVKAAKDGTKDGLERTRAAVKRGRSFI
  RTKSLIAQDHRSSLEEEQNLFIDVDCKHPEAILTPMPEGLSQQQVVRRYILGSVVDSEKNYVDALKRILEQYEKP
  LSEMEPKVLSERKLKTVFYRVKEILQCHSLFQIALASRVSEWDSVEMIGDVFVASFSKSMVLDAYSEYVNNFSTA
  VAVLKKTCATKPAFLEFLKQEQEASPDRTTLYSLMMKPIQRFPQFILLLQDMLKNTSKGHPDRLPLQMALTELET
  LAEKLNERKRDADQRCEVKQIAKAINERYLNKLLSSGSRYLIRSDDMIETVYNDRGEIVKTKERRVFMLNDVLMC
  ATVSSRPSHDSRVMSSQRYLLKWSVPLGHVDAIEYGSSAGTGEHSRHLAVHPPESLAVVANAKPNKVYMGPGQLY
  QDLQNLLHDLNVIGQITQLIGNLKGNYQNLNQSVAHDWTSGLQRLILKKEDEIRAADCCRIQLQLPGKQDKSGRP
  TFFTAVFNTFTPAIKESWVNSLQMAKLALEEENHMGWFCVEDDGNHIKKEKHPLLVGHMPVMVAKQQEFKIECAA
  YNPEPYLNNESQPDSFSTAHGFLWIGSCTHQMGQIAIVSFQNSTPKVIECFNVESRILCMLYVPVEEKRREPGAP
  PDPETPAVRASDVPTICVGTEEGSISIYKSSQGSKKVRLQHFFTPEKSTVMSLACTSQSLYAGLVNGAVASYARA
  PDGSWDSEPQKVIKLGVLPVRSLLMMEDTLWAASGGQVFIISVETHAVEGQLEAHQEEGMVISHMAVSGVGIWIA
  FTSGSTLRLFHTETLKHLQDINIATPVHNMLPGHQRLSVTSLLVCHGLLMVGTSLGVLVALPVPRLQGIPKVTGR
  GMVSYHAHNSPVKFIVLATALHEKDKDKSRDSLAPGPEPQDEDQKDALPSGGAGSSLSQGDPDAAIWLGDSLGSM
  TQKSDLSSSSGSLSLSHGSSSLEHRSEDSTIYDLLKDPVSLRSKARRAKKAKASSALVVCGGQGHRRVHRKARQP
  HQEELAPTVMVWQIPLLNI

• Structural information:
  • Protein Domains: (421..60-)
    (/note="DH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00062"-)
  • Interpro: IPR030632  IPR039919  IPR035899  IPR000219  IPR015943   IPR036322  
  • Prosite: PS50010
  • CDD: cd00160
  • STRING: ENSP00000340297
• Other Databases: GeneCards:  ARHGEF10  Malacards:  ARHGEF10

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005085	guanyl-nucleotide exchange factor activity	IBA	molecular function
GO:0005089	Rho guanyl-nucleotide exchange factor activity	IBA	molecular function
GO:0005813	centrosome	IBA	cellular component
GO:0030036	actin cytoskeleton organization	IBA	biological process
GO:0051496	positive regulation of stress fiber assembly	IBA	biological process
GO:0090307	mitotic spindle assembly	IBA	biological process
GO:0005813	centrosome	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0090307	mitotic spindle assembly	IEA	biological process
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005089	Rho guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0022011	myelination in peripheral nervous system	IEA	biological process
GO:0035023	regulation of Rho protein signal transduction	IEA	biological process
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005089	Rho guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:0005089	Rho guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:0005089	Rho guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:0019894	kinesin binding	IPI	molecular function
GO:0005813	centrosome	IDA	cellular component
GO:0090630	activation of GTPase activity	IDA	biological process
GO:0005829	cytosol	NAS	cellular component
GO:0051298	centrosome duplication	IMP	biological process
GO:0051496	positive regulation of stress fiber assembly	IMP	biological process
GO:0090307	mitotic spindle assembly	IMP	biological process
GO:0022011	myelination in peripheral nervous system	IMP	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
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