• Gene id: 11033

Gene Summary

• Gene Symbol: ADAP1   Gene   UCSC   Ensembl
• Aliases: CENTA1, GCS1L, p42IP4
• Gene name: ArfGAP with dual PH domains 1
• Alternate names: arf-GAP with dual PH domain-containing protein 1, centaurin-alpha, centaurin-alpha-1, cnt-a1, putative MAPK-activating protein PM25,
• Gene location: 7p22.3 (955406: 897899)     Exons: 15     NC_000007.14
• OMIM: 608114

Protein Summary

• Protein general information: O75689  
  • Name: Arf GAP with dual PH domain containing protein 1 (Centaurin alpha 1) (Cnt a1) (Putative MAPK activating protein PM25)
  • Length: 374  
  • Mass: 43395
  • Tissue specificity: Expressed at highest levels in brain and at lower levels in peripheral blood leukocytes. {ECO
• Sequence:

  MAKERRRAVLELLQRPGNARCADCGAPDPDWASYTLGVFICLSCSGIHRNIPQVSKVKSVRLDAWEEAQVEFMAS
  HGNDAARARFESKVPSFYYRPTPSDCQLLREQWIRAKYERQEFIYPEKQEPYSAGYREGFLWKRGRDNGQFLSRK
  FVLTEREGALKYFNRNDAKEPKAVMKIEHLNATFQPAKIGHPHGLQVTYLKDNSTRNIFIYHEDGKEIVDWFNAL
  RAARFHYLQVAFPGAGDADLVPKLSRNYLKEGYMEKTGPKQTEGFRKRWFTMDDRRLMYFKDPLDAFARGEVFIG
  SKESGYTVLHGFPPSTQGHHWPHGITIVTPDRKFLFACETESDQREWVAAFQKAVDRPMLPQEYAVEAHFKHKP

• Structural information:
  • Protein Domains: (7..12-)
    (/note="Arf-GAP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00288-)
    (129..23-)
    (/note="PH-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145-)
    (252..35-)
    (/note="PH-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145"-)
  • Interpro: IPR037278  IPR001164  IPR038508  IPR011993  IPR037849   IPR037851  IPR001849  
  • Prosite: PS50115 PS50003
  • CDD: cd13252 cd01251
  • PDB: 3FEH 3FM8 3LJU 3MDB
  • PDBsum: 3FEH 3FM8 3LJU 3MDB
  • DIP: 41731
  • STRING: ENSP00000442682
• Other Databases: GeneCards:  ADAP1  Malacards:  ADAP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:1902936	phosphatidylinositol bisphosphate binding	IEA	molecular function
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0007166	cell surface receptor signaling pathway	TAS	biological process
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:0005547	phosphatidylinositol-3,4,5-trisphosphate binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005096	GTPase activator activity	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005096	GTPase activator activity	IDA	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0043533	inositol 1,3,4,5 tetrakisphosphate binding	TAS	molecular function
GO:0043087	regulation of GTPase activity	IMP	biological process
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

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray