• Gene id: 119385

Gene Summary

• Gene Symbol: AGAP11   Gene   UCSC   Ensembl
• Gene name: ArfGAP with GTPase domain, ankyrin repeat and PH domain 11
• Alternate names: arf-GAP with GTPase, ANK repeat and PH domain-containing protein 11, ankyrin repeat and GTPase domain Arf GTPase activating protein 11,
• Gene location: 10q23.2 (86970335: 87010202)     Exons: 12     NC_000010.11
• OMIM: 180231

Protein Summary

• Protein general information: Q8TF27  
  • Name: Arf GAP with GTPase, ANK repeat and PH domain containing protein 11 (AGAP 11) (Centaurin gamma like protein KIAA1975)
  • Length: 550  
  • Mass: 60549
• Sequence:

  MTIISVTLEIHHHITERDADRSLTILDEQLYSFAFSTVHITKKRNGGGSLNNYSSSIPLTPSTSQEDLYFSVPPT
  ANTPTPICKQSMGWSNLFTSEKGSDPDKGRKALESHADTIGSGRAIPIKQGMLLKRSGKWLKTWKKKYVTLCSNG
  VLTYYSSLGDYMKNIHKKEIDLRTSTIKVPGKWPSLATSACAPISSSKSNGLSKDMEALHMSANSDIGLGDSICF
  SPSISSTTSPKLNLPPSPHANKKKHLKKKSTNNLKDDGLSSTAEEEEEKFMIVSVTGQTCHFKATTYEERDAWVQ
  AIQSQILASLQSCESSKSKSQLTSQSEAMALQSIQNMRGNSHCVDCETQNPKWASLNLGVLMCIECSGIHRSLGT
  RLSRVRSLELDDWPVELRKVMSSIGNDLANSIWEGSSQGQTKPSIESTREEKERWIRSKYEHKLFLAPLPCTELS
  LGQHLLRATADEDLRTAILLLAHGSREEVNETCGEGDGCTALHLACRKGNVVLAQLLIWYGVDVMARDAHGNTAL
  TYARQASSQECINVLLQYGCPDECV

• Structural information:
  • Protein Domains: (121..30-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145-)
    (328..44-)
    (/note="Arf-GAP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00288"-)
  • Interpro: IPR002110  IPR020683  IPR036770  IPR037278  IPR001164   IPR038508  IPR011993  IPR001849  
  • Prosite: PS50297 PS50088 PS50115 PS50003
• Other Databases: GeneCards:  AGAP11  Malacards:  AGAP11

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005096	GTPase activator activity	IEA	molecular function
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
hsa04144	Endocytosis

Diseases

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

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
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