• Gene id: 55160

Gene Summary

• Gene Symbol: ARHGEF10L   Gene   UCSC   Ensembl
• Aliases: GrinchGEF
• Gene name: Rho guanine nucleotide exchange factor 10 like
• Alternate names: rho guanine nucleotide exchange factor 10-like protein, Rho guanine nucleotide exchange factor (GEF) 10-like,
• Gene location: 1p36.13 (17513441: 17697874)     Exons: 37     NC_000001.11
• Gene summary(Entrez): This gene belongs to the RhoGEF subfamily of RhoGTPases. Members of this subfamily are activated by specific guanine nucleotide exchange factors (GEFs) and are involved in signal transduction. The encoded protein shows cytosolic distribution. Alternative
• OMIM: 612494

Protein Summary

• Protein general information: Q9HCE6  
  • Name: Rho guanine nucleotide exchange factor 10 like protein (GrinchGEF)
  • Length: 1279  
  • Mass: 140379
  • Tissue specificity: Detected in heart, liver, skeletal muscle, kidney and pancreas. {ECO
• Sequence:

  MASSNPPPQPAIGDQLVPGVPGPSSEAEDDPGEAFEFDDSDDEEDTSAALGVPSLAPERDTDPPLIHLDSIPVTD
  PDPAAAPPGTGVPAWVSNGDAADAAFSGARHSSWKRKSSRRIDRFTFPALEEDVIYDDVPCESPDAHQPGAERNL
  LYEDAHRAGAPRQAEDLGWSSSEFESYSEDSGEEAKPEVEVEPAKHRVSFQPKLSPDLTRLKERYARTKRDILAL
  RVGGRDMQELKHKYDCKMTQLMKAAKSGTKDGLEKTRMAVMRKVSFLHRKDVLGDSEEEDMGLLEVSVSDIKPPA
  PELGPMPEGLSPQQVVRRHILGSIVQSEGSYVESLKRILQDYRNPLMEMEPKALSARKCQVVFFRVKEILHCHSM
  FQIALSSRVAEWDSTEKIGDLFVASFSKSMVLDVYSDYVNNFTSAMSIIKKACLTKPAFLEFLKRRQVCSPDRVT
  LYGLMVKPIQRFPQFILLLQDMLKNTPRGHPDRLSLQLALTELETLAEKLNEQKRLADQVAEIQQLTKSVSDRSS
  LNKLLTSGQRQLLLCETLTETVYGDRGQLIKSKERRVFLLNDMLVCANINFKPANHRGQLEISSLVPLGPKYVVK
  WNTALPQVQVVEVGQDGGTYDKDNVLIQHSGAKKASASGQAQNKVYLGPPRLFQELQDLQKDLAVVEQITLLIST
  LHGTYQNLNMTVAQDWCLALQRLMRVKEEEIHSANKCRLRLLLPGKPDKSGRPISFMVVFITPNPLSKISWVNRL
  HLAKIGLREENQPGWLCPDEDKKSKAPFWCPILACCIPAFSSRALSLQLGALVHSPVNCPLLGFSAVSTSLPQGY
  LWVGGGQEGAGGQVEIFSLNRPSPRTVKSFPLAAPVLCMEYIPELEEEAESRDESPTVADPSATVHPTICLGLQD
  GSILLYSSVDTGTQCLVSCRSPGLQPVLCLRHSPFHLLAGLQDGTLAAYPRTSGGVLWDLESPPVCLTVGPGPVR
  TLLSLEDAVWASCGPRVTVLEATTLQPQQSFEAHQDEAVSVTHMVKAGSGVWMAFSSGTSIRLFHTETLEHLQEI
  NIATRTTFLLPGQKHLCVTSLLICQGLLWVGTDQGVIVLLPVPRLEGIPKITGKGMVSLNGHCGPVAFLAVATSI
  LAPDILRSDQEEAEGPRAEEDKPDGQAHEPMPDSHVGRELTRKKGILLQYRLRSTAHLPGPLLSMREPAPADGAA
  LEHSEEDGSIYEMADDPDIWVRSRPCARDAHRKEICSVAIISGGQGYRNFGSALGSSGRQAPCGETDSTLLIWQV
  PLML

• Structural information:
  • Protein Domains: (316..50-)
    (/note="DH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00062"-)
  • Interpro: IPR039919  IPR035899  IPR000219  IPR011993  IPR015943   IPR036322  
  • Prosite: PS50010
  • CDD: cd00160
  • STRING: ENSP00000355060
• Other Databases: GeneCards:  ARHGEF10L  Malacards:  ARHGEF10L

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005096	GTPase activator activity	IDA	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0051496	positive regulation of stress fiber assembly	IDA	biological process
GO:0032933	SREBP signaling pathway	IDA	biological process
GO:0051496	positive regulation of stress fiber assembly	IBA	biological process
GO:0032933	SREBP signaling pathway	IBA	biological process
GO:0030036	actin cytoskeleton organization	IBA	biological process
GO:0005829	cytosol	IBA	cellular component
GO:0005089	Rho guanyl-nucleotide exchange factor activity	IBA	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IBA	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005089	Rho guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0043547	positive regulation of GTPase activity	IEA	biological process

Diseases

Associated diseases	References
Ovarian serous carcinoma	PMID:29979793
ovarian endometrial cancer	PMID:29979793
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
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray