• Gene id: 116988

Gene Summary

• Gene Symbol: AGAP3   Gene   UCSC   Ensembl
• Aliases: AGAP-3, CENTG3, CRAG, MRIP-1, cnt-g3
• Gene name: ArfGAP with GTPase domain, ankyrin repeat and PH domain 3
• Alternate names: arf-GAP with GTPase, ANK repeat and PH domain-containing protein 3, CRAM-associated GTPase, CRMP (collapsin response mediator protein) associated, MR1-interacting protein, centaurin-gamma-3,
• Gene location: 7q36.1 (151085866: 151144434)     Exons: 6     NC_000007.14
• Gene summary(Entrez): This gene encodes an essential component of the N-methyl-D-aspartate (NMDA) receptor signaling complex which mediates long-term potentiation in synapses by linking activation of NMDA receptor to alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AM
• OMIM: 616813

Protein Summary

• Protein general information: Q96P47  
  • Name: Arf GAP with GTPase, ANK repeat and PH domain containing protein 3 (AGAP 3) (CRAM associated GTPase) (CRAG) (Centaurin gamma 3) (Cnt g3) (MR1 interacting protein) (MRIP 1)
  • Length: 875  
  • Mass: 95044
  • Tissue specificity: Widely expressed. {ECO
• Sequence:

  MNFQAGGGQSPQQQQQLAGGPPQQFALSNSAAIRAEIQRFESVHPNIYAIYDLIERIEDLALQNQIREHVISIED
  SFVNSQEWTLSRSVPELKVGIVGNLSSGKSALVHRYLTGTYVQEESPEGGRFKKEIVVDGQSYLLLIRDEGGPPE
  LQFAAWVDAVVFVFSLEDEISFQTVYNYFLRLCSFRNASEVPMVLVGTQDAISAANPRVIDDSRARKLSTDLKRC
  TYYETCATYGLNVERVFQDVAQKVVALRKKQQLAIGPCKSLPNSPSHSAVSAASIPAVHINQATNGGGSAFSDYS
  SSVPSTPSISQRELRIETIAASSTPTPIRKQSKRRSNIFTSRKGADLDREKKAAECKVDSIGSGRAIPIKQGILL
  KRSGKSLNKEWKKKYVTLCDNGLLTYHPSLHDYMQNIHGKEIDLLRTTVKVPGKRLPRATPATAPGTSPRANGLS
  VERSNTQLGGGTGAPHSASSASLHSERPLSSSAWAGPRPEGLHQRSCSVSSADQWSEATTSLPPGMQHPASGPAE
  VLSSSPKLDPPPSPHSNRKKHRRKKSTGTPRPDGPSSATEEAEESFEFVVVSLTGQTWHFEASTAEERELWVQSV
  QAQILASLQGCRSAKDKTRLGNQNAALAVQAVRTVRGNSFCIDCDAPNPDWASLNLGALMCIECSGIHRHLGAHL
  SRVRSLDLDDWPPELLAVMTAMGNALANSVWEGALGGYSKPGPDACREEKERWIRAKYEQKLFLAPLPSSDVPLG
  QQLLRAVVEDDLRLLVMLLAHGSKEEVNETYGDGDGRTALHLSSAMANVVFTQLLIWYGVDVRSRDARGLTPLAY
  ARRAGSQECADILIQHGCPGEGCGLAPTPNREPANGTNPSAELHRSPSLL

• Structural information:
  • Protein Domains: (367..60-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145-)
    (626..74-)
    (/note="Arf-GAP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00288"-)
  • Interpro: IPR002110  IPR020683  IPR036770  IPR037278  IPR001164   IPR038508  IPR027417  IPR011993  IPR001849  IPR001806  IPR020849  
  • Prosite: PS50297 PS50088 PS50115 PS50003 PS51421
  • PDB: 3IHW
  • PDBsum: 3IHW
  • STRING: ENSP00000380413
• Other Databases: GeneCards:  AGAP3  Malacards:  AGAP3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	IBA	biological process
GO:0003924	GTPase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005525	GTP binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	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
GO:0003924	GTPase activity	ISO	molecular function
GO:0005737	cytoplasm	ISO	cellular component
GO:0005634	nucleus	ISO	cellular component
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	ISO	biological process
GO:0071944	cell periphery	ISO	cellular component
GO:0031593	polyubiquitin modification-dependent protein binding	ISO	molecular function
GO:0034614	cellular response to reactive oxygen species	ISO	biological process

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
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
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray