• Gene id: 116983

Gene Summary

• Gene Symbol: ACAP3   Gene   UCSC   Ensembl
• Aliases: CENTB5
• Gene name: ArfGAP with coiled-coil, ankyrin repeat and PH domains 3
• Alternate names: arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 3, centaurin-beta-5, cnt-b5,
• Gene location: 1p36.33 (1307929: 1292383)     Exons: 25     NC_000001.11
• OMIM: 608651

Protein Summary

• Protein general information: Q96P50  
  • Name: Arf GAP with coiled coil, ANK repeat and PH domain containing protein 3 (Centaurin beta 5) (Cnt b5)
  • Length: 834  
  • Mass: 92495
• Sequence:

  MTVEFEECVKDSPRFRATIDEVETDVVEIEAKLDKLVKLCSGMVEAGKAYVSTSRLFVSGVRDLSQQCQGDTVIS
  ECLQRFADSLQEVVNYHMILFDQAQRSVRQQLQSFVKEDVRKFKETKKQFDKVREDLELSLVRNAQAPRHRPHEV
  EEATGALTLTRKCFRHLALDYVLQINVLQAKKKFEILDSMLSFMHAQSSFFQQGYSLLHQLDPYMKKLAAELDQL
  VIDSAVEKREMERKHAAIQQRTLLQDFSYDESKVEFDVDAPSGVVMEGYLFKRASNAFKTWNRRWFSIQNSQLVY
  QKKLKDALTVVVDDLRLCSVKPCEDIERRFCFEVLSPTKSCMLQADSEKLRQAWVQAVQASIASAYRESPDSCYS
  ERLDRTASPSTSSIDSATDTRERGVKGESVLQRVQSVAGNSQCGDCGQPDPRWASINLGVLLCIECSGIHRSLGV
  HCSKVRSLTLDSWEPELLKLMCELGNSAVNQIYEAQCEGAGSRKPTASSSRQDKEAWIKDKYVEKKFLRKAPMAP
  ALEAPRRWRVQKCLRPHSSPRAPTARRKVRLEPVLPCVAALSSVGTLDRKFRRDSLFCPDELDSLFSYFDAGAAG
  AGPRSLSSDSGLGGSSDGSSDVLAFGSGSVVDSVTEEEGAESEESSGEADGDTEAEAWGLADVRELHPGLLAHRA
  ARARDLPALAAALAHGAEVNWADAEDEGKTPLVQAVLGGSLIVCEFLLQNGADVNQRDSRGRAPLHHATLLGRTG
  QVCLFLKRGADQHALDQEQRDPLAIAVQAANADIVTLLRLARMAEEMREAEAAPGPPGALAGSPTELQFRRCIQE
  FISLHLEES

• Structural information:
  • Protein Domains: (268..36-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145-)
    (403..52-)
    (/note="Arf-GAP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00288"-)
  • Interpro: IPR042695  IPR027267  IPR002110  IPR020683  IPR036770   IPR037278  IPR001164  IPR038508  IPR011993  IPR001849  
  • Prosite: PS50297 PS50088 PS50115 PS50003
  • CDD: cd07637
  • STRING: ENSP00000346733
• Other Databases: GeneCards:  ACAP3  Malacards:  ACAP3

Gene ontology

GO accession	Term name	Evidence code	Go category
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:0001764	neuron migration	IEA	biological process
GO:0010975	regulation of neuron projection development	IEA	biological process
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0030426	growth cone	IEA	cellular component
GO:0043547	positive regulation of GTPase activity	IEA	biological process
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
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