• Gene id: 116987

Gene Summary

• Gene Symbol: AGAP1   Gene   UCSC   Ensembl
• Aliases: AGAP-1, CENTG2, GGAP1, cnt-g2
• Gene name: ArfGAP with GTPase domain, ankyrin repeat and PH domain 1
• Alternate names: arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1, Arf GAP with GTP-binding protein-like, ANK repeat and PH domains 1, GTP-binding and GTPase-activating protein 1, centaurin, gamma 2,
• Gene location: 2q37.2 (235494042: 236131794)     Exons: 25     NC_000002.12
• Gene summary(Entrez): This gene encodes a member of an ADP-ribosylation factor GTPase-activating protein family involved in membrane trafficking and cytoskeleton dynamics. This gene functions as a direct regulator of the adaptor-related protein complex 3 on endosomes. Multiple
• OMIM: 607229

Protein Summary

• Protein general information: Q9UPQ3  
  • Name: Arf GAP with GTPase, ANK repeat and PH domain containing protein 1 (AGAP 1) (Centaurin gamma 2) (Cnt g2) (GTP binding and GTPase activating protein 1) (GGAP1)
  • Length: 857  
  • Mass: 94470
  • Tissue specificity: Widely expressed. {ECO
• Sequence:

  MNYQQQLANSAAIRAEIQRFESVHPNIYSIYELLERVEEPVLQNQIREHVIAIEDAFVNSQEWTLSRSVPELKVG
  IVGNLASGKSALVHRYLTGTYVQEESPEGGRFKKEIVVDGQSYLLLIRDEGGPPEAQFAMWVDAVIFVFSLEDEI
  SFQTVYHYYSRMANYRNTSEIPLVLVGTQDAISSANPRVIDDARARKLSNDLKRCTYYETCATYGLNVERVFQDV
  AQKIVATRKKQQLSIGPCKSLPNSPSHSSVCSAQVSAVHISQTSNGGGSLSDYSSSVPSTPSTSQKELRIDVPPT
  ANTPTPVRKQSKRRSNLFTSRKGSDPDKEKKGLESRADSIGSGRAIPIKQGMLLKRSGKSLNKEWKKKYVTLCDN
  GVLTYHPSLHDYMQNVHGKEIDLLRTTVKVPGKRPPRATSACAPISSPKTNGLSKDMSSLHISPNSGNVTSASGS
  QMASGISLVSFNSRPDGMHQRSYSVSSADQWSEATVIANSAISSDTGLGDSVCSSPSISSTTSPKLDPPPSPHAN
  RKKHRRKKSTSNFKADGLSGTAEEQEENFEFIIVSLTGQTWHFEATTYEERDAWVQAIESQILASLQSCESSKNK
  SRLTSQSEAMALQSIRNMRGNSHCVDCETQNPNWASLNLGALMCIECSGIHRNLGTHLSRVRSLDLDDWPVELIK
  VMSSIGNELANSVWEESSQGRTKPSVDSTREEKERWIRAKYEQKLFLAPLPCTELSLGQHLLRATADEDLRTAIL
  LLAHGSRDEVNETCGEGDGRTALHLACRKGNVVLAQLLIWYGVDVTARDAHGNTALAYARQASSQECIDVLLQYG
  CPDERFVLMATPNLSRRNNNRNNSSGRVPTII

• Structural information:
  • Protein Domains: (346..58-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145-)
    (609..72-)
    (/note="Arf-GAP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00288"-)
  • Interpro: IPR002110  IPR020683  IPR036770  IPR037278  IPR001164   IPR038508  IPR027417  IPR011993  IPR001849  IPR001806  
  • Prosite: PS50297 PS50088 PS50115 PS50003 PS51419
  • STRING: ENSP00000307634
• Other Databases: GeneCards:  AGAP1  Malacards:  AGAP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0003924	GTPase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0005543	phospholipid binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
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

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
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