• Gene id: 50807

Gene Summary

• Gene Symbol: ASAP1   Gene   UCSC   Ensembl
• Aliases: AMAP1, CENTB4, DDEF1, PAG2, PAP, ZG14P
• Gene name: ArfGAP with SH3 domain, ankyrin repeat and PH domain 1
• Alternate names: arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1, 130 kDa phosphatidylinositol 4,5-biphosphate-dependent ARF1 GTPase-activating protein, 130 kDa phosphatidylinositol 4,5-bisphosphate-dependent ARF1 GTPase-activating protein, ADP-ribosyl,
• Gene location: 8q24.21-q24.22 (130443847: 130052103)     Exons: 37     NC_000008.11
• Gene summary(Entrez): This gene encodes an ADP-ribosylation factor (ARF) GTPase-activating protein. The GTPase-activating activity is stimulated by phosphatidylinositol 4,5-biphosphate (PIP2), and is greater towards ARF1 and ARF5, and lesser for ARF6. This gene maybe involved
• OMIM: 605953

Protein Summary

• Protein general information: Q9ULH1  
  • Name: Arf GAP with SH3 domain, ANK repeat and PH domain containing protein 1 (130 kDa phosphatidylinositol 4,5 bisphosphate dependent ARF1 GTPase activating protein) (ADP ribosylation factor directed GTPase activating protein 1) (ARF GTPase activating protein 1
  • Length: 1129  
  • Mass: 125498
• Sequence:

  MRSSASRLSSFSSRDSLWNRMPDQISVSEFIAETTEDYNSPTTSSFTTRLHNCRNTVTLLEEALDQDRTALQKVK
  KSVKAIYNSGQDHVQNEENYAQVLDKFGSNFLSRDNPDLGTAFVKFSTLTKELSTLLKNLLQGLSHNVIFTLDSL
  LKGDLKGVKGDLKKPFDKAWKDYETKFTKIEKEKREHAKQHGMIRTEITGAEIAEEMEKERRLFQLQMCEYLIKV
  NEIKTKKGVDLLQNLIKYYHAQCNFFQDGLKTADKLKQYIEKLAADLYNIKQTQDEEKKQLTALRDLIKSSLQLD
  QKEDSQSRQGGYSMHQLQGNKEYGSEKKGYLLKKSDGIRKVWQRRKCSVKNGILTISHATSNRQPAKLNLLTCQV
  KPNAEDKKSFDLISHNRTYHFQAEDEQDYVAWISVLTNSKEEALTMAFRGEQSAGENSLEDLTKAIIEDVQRLPG
  NDICCDCGSSEPTWLSTNLGILTCIECSGIHREMGVHISRIQSLELDKLGTSELLLAKNVGNNSFNDIMEANLPS
  PSPKPTPSSDMTVRKEYITAKYVDHRFSRKTCSTSSAKLNELLEAIKSRDLLALIQVYAEGVELMEPLLEPGQEL
  GETALHLAVRTADQTSLHLVDFLVQNCGNLDKQTALGNTVLHYCSMYSKPECLKLLLRSKPTVDIVNQAGETALD
  IAKRLKATQCEDLLSQAKSGKFNPHVHVEYEWNLRQEEIDESDDDLDDKPSPIKKERSPRPQSFCHSSSISPQDK
  LALPGFSTPRDKQRLSYGAFTNQIFVSTSTDSPTSPTTEAPPLPPRNAGKGPTGPPSTLPLSTQTSSGSSTLSKK
  RPPPPPPGHKRTLSDPPSPLPHGPPNKGAVPWGNDGGPSSSSKTTNKFEGLSQQSSTSSAKTALGPRVLPKLPQK
  VALRKTDHLSLDKATIPPEIFQKSSQLAELPQKPPPGDLPPKPTELAPKPQIGDLPPKPGELPPKPQLGDLPPKP
  QLSDLPPKPQMKDLPPKPQLGDLLAKSQTGDVSPKAQQPSEVTLKSHPLDLSPNVQSRDAIQKQASEDSNDLTPT
  LPETPVPLPRKINTGKNKVRRVKTIYDCQADNDDELTFIEGEVIIVTGEEDQEWWIGHIEGQPERKGVFPVSFVH
  ILSD

• Structural information:
  • Protein Domains: (324..41-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145-)
    (439..56-)
    (/note="Arf-GAP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00288-)
    (1067..112-)
    (/note="SH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192"-)
  • Interpro: IPR027267  IPR002110  IPR020683  IPR036770  IPR037278   IPR001164  IPR038508  IPR037928  IPR038016  IPR011993  IPR037844  IPR001849  IPR036028  IPR001452  
  • Prosite: PS50297 PS50088 PS50115 PS50003 PS50002
  • CDD: cd07641 cd13251 cd11965
  • PDB: 2D1X 2DA0 2ED1 2RQT 2RQU
  • PDBsum: 2D1X 2DA0 2ED1 2RQT 2RQU
  • STRING: ENSP00000429900
• Other Databases: GeneCards:  ASAP1  Malacards:  ASAP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030030	cell projection organization	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
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: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: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: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: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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001786	phosphatidylserine binding	IEA	molecular function
GO:0002102	podosome	IEA	cellular component
GO:0061000	negative regulation of dendritic spine development	IEA	biological process
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	IEA	molecular function
GO:0005547	phosphatidylinositol-3,4,5-trisphosphate binding	IEA	molecular function
GO:0043197	dendritic spine	IEA	cellular component
GO:1903527	positive regulation of membrane tubulation	IEA	biological process
GO:0045296	cadherin binding	HDA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0071803	positive regulation of podosome assembly	IBA	biological process
GO:0060271	cilium assembly	IBA	biological process
GO:0031253	cell projection membrane	IBA	cellular component
GO:0002102	podosome	IBA	cellular component
GO:1903527	positive regulation of membrane tubulation	IBA	biological process
GO:0005096	GTPase activator activity	IBA	molecular function
GO:0060271	cilium assembly	IMP	biological process
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0043547	positive regulation of GTPase activity	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis
hsa04666	Fc gamma R-mediated phagocytosis
hsa04144	Endocytosis
hsa04666	Fc gamma R-mediated phagocytosis

Diseases

Associated diseases	References
Multiple sclerosis	GAD: 19525955
Multiple sclerosis	GAD: 19525955
Spermatogenesis defects	MIK: 12151104
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)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray