• Gene id: 9744

Gene Summary

• Gene Symbol: ACAP1   Gene   UCSC   Ensembl
• Aliases: CENTB1
• Gene name: ArfGAP with coiled-coil, ankyrin repeat and PH domains 1
• Alternate names: arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 1, Arf GAP with coiled coil, ANK repeat and PH domains 1, centaurin-beta-1, cnt-b1,
• Gene location: 17p13.1 (7336505: 7354943)     Exons: 22     NC_000017.11
• OMIM: 607763

Protein Summary

• Protein general information: Q15027  
  • Name: Arf GAP with coiled coil, ANK repeat and PH domain containing protein 1 (Centaurin beta 1) (Cnt b1)
  • Length: 740  
  • Mass: 81536
  • Tissue specificity: Highest level in lung and spleen. Low level in heart, kidney, liver and pancreas. {ECO
• Sequence:

  MTVKLDFEECLKDSPRFRASIELVEAEVSELETRLEKLLKLGTGLLESGRHYLAASRAFVVGICDLARLGPPEPM
  MAECLEKFTVSLNHKLDSHAELLDATQHTLQQQIQTLVKEGLRGFREARRDFWRGAESLEAALTHNAEVPRRRAQ
  EAEEAGAALRTARAGYRGRALDYALQINVIEDKRKFDIMEFVLRLVEAQATHFQQGHEELSRLSQYRKELGAQLH
  QLVLNSAREKRDMEQRHVLLKQKELGGEEPEPSLREGPGGLVMEGHLFKRASNAFKTWSRRWFTIQSNQLVYQKK
  YKDPVTVVVDDLRLCTVKLCPDSERRFCFEVVSTSKSCLLQADSERLLQLWVSAVQSSIASAFSQARLDDSPRGP
  GQGSGHLAIGSAATLGSGGMARGREPGGVGHVVAQVQSVDGNAQCCDCREPAPEWASINLGVTLCIQCSGIHRSL
  GVHFSKVRSLTLDSWEPELVKLMCELGNVIINQIYEARVEAMAVKKPGPSCSRQEKEAWIHAKYVEKKFLTKLPE
  IRGRRGGRGRPRGQPPVPPKPSIRPRPGSLRSKPEPPSEDLGSLHPGALLFRASGHPPSLPTMADALAHGADVNW
  VNGGQDNATPLIQATAANSLLACEFLLQNGANVNQADSAGRGPLHHATILGHTGLACLFLKRGADLGARDSEGRD
  PLTIAMETANADIVTLLRLAKMREAEAAQGQAGDETYLDIFRDFSLMASDDPEKLSRRSHDLHTL

• Structural information:
  • Protein Domains: (1..22-)
    (/note="BAR-)
    (265..36-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145-)
    (405..52-)
    (/note="Arf-GAP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00288"-)
  • Interpro: IPR027267  IPR002110  IPR020683  IPR036770  IPR037278   IPR001164  IPR038508  IPR011993  IPR001849  
  • Prosite: PS50297 PS50088 PS50115 PS50003
  • PDB: 3JUE 3T9K 4CKG 4CKH 4F1P 4NSW 5H3D
  • PDBsum: 3JUE 3T9K 4CKG 4CKH 4F1P 4NSW 5H3D
  • STRING: ENSP00000158762
• Other Databases: GeneCards:  ACAP1  Malacards:  ACAP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0015031	protein transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0055038	recycling endosome membrane	IEA	cellular component
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0016020	membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
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