• Gene id: 116985

Gene Summary

• Gene Symbol: ARAP1   Gene   UCSC   Ensembl
• Aliases: CENTD2
• Gene name: ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1
• Alternate names: arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 1, ARF-GAP, RHO-GAP, ankyrin repeat, and pleckstrin homology domains-containing protein 1, centaurin-delta-2, cnt-d2,
• Gene location: 11q13.4 (72752388: 72685068)     Exons: 36     NC_000011.10
• Gene summary(Entrez): The protein encoded by this gene contains SAM, ARF-GAP, RHO-GAP, ankyrin repeat, RAS-associating, and pleckstrin homology (PH) domains. In vitro, this protein displays RHO-GAP and phosphatidylinositol (3,4,5) trisphosphate (PIP3)-dependent ARF-GAP activit
• OMIM: 606646

Protein Summary

• Protein general information: Q96P48  
  • Name: Arf GAP with Rho GAP domain, ANK repeat and PH domain containing protein 1 (Centaurin delta 2) (Cnt d2)
  • Length: 1450  
  • Mass: 162192
  • Tissue specificity: Detected in heart, skeletal muscle, spleen, kidney, liver, placenta, lung, peripheral blood leukocytes, adrenal gland, bone marrow, brain, lymph node, mammary gland, prostate, spinal cord, stomach, thyroid and trachea. {ECO
• Sequence:

  MAEAGDAALSVAEWLRALHLEQYTGLFEQHGLVWATECQGLSDTRLMDMGMLLPGHRRRILAGLLRAHTSPAPAP
  RPTPRPVPMKRHIFRSPPVPATPPEPLPTTTEDEGLPAAPPIPPRRSCLPPTCFTTPSTAAPDPVLPPLPAKRHL
  AELSVPPVPPRTGPPRLLVSLPTKEEESLLPSLSSPPQPQSEEPLSTLPQGPPQPPSPPPCPPEIPPKPVRLFPE
  FDDSDYDEVPEEGPGAPARVMTKKEEPPPSRVPRAVRVASLLSEGEELSGDDQGDEEEDDHAYEGVPNGGWHTSS
  LSLSLPSTIAAPHPMDGPPGGSTPVTPVIKAGWLDKNPPQGSYIYQKRWVRLDTDHLRYFDSNKDAYSKRFISVA
  CISHVAAIGDQKFEVITNNRTFAFRAESDVERKEWMQALQQAMAEQRARARLSSAYLLGVPGSEQPDRAGSLELR
  GFKNKLYVAVVGDKVQLYKNLEEYHLGIGITFIDMSVGNVKEVDRRSFDLTTPYRIFSFSADSELEKEQWLEAMQ
  GAIAEALSTSEVAERIWAAAPNRFCADCGAPQPDWASINLCVVICKRCAGEHRGLGAGVSKVRSLKMDRKVWTET
  LIELFLQLGNGAGNRFWAANVPPSEALQPSSSPSTRRCHLEAKYREGKYRRYHPLFGNQEELDKALCAAVTTTDL
  AETQALLGCGAGINCFSGDPEAPTPLALAEQAGQTLQMEFLRNNRTTEVPRLDSMKPLEKHYSVVLPTVSHSGFL
  YKTASAGKLLQDRRAREEFSRRWCVLGDGVLSYFENERAVTPNGEIRASEIVCLAVPPPDTHGFEHTFEVYTEGE
  RLYLFGLESAEQAHEWVKCIAKAFVPPLAEDLLARDFERLGRLPYKAGLSLQRAQEGWFSLSGSELRAVFPEGPC
  EEPLQLRKLQELSIQGDSENQVLVLVERRRTLYIQGERRLDFMGWLGAIQKAAASMGDTLSEQQLGDSDIPVIVY
  RCVDYITQCGLTSEGIYRKCGQTSKTQRLLESLRQDARSVHLKEGEQHVDDVSSALKRFLRDLPDGLFTRAQRLT
  WLEASEIEDEEEKVSRYRELLVRLPPVNRATVKALISHLYCVQCFSDTNQMNVHNLAIVFGPTLFQTDGQDYKAG
  RVVEDLINHYVVVFSVDEEELRKQREEITAIVKMRVAGTASGTQHAGDFICTVYLEEKKAETEQHIKVPASMTAE
  ELTLEILDRRNVGIREKDYWTCFEVNEREEAERPLHFAEKVLPILHGLGTDSHLVVKKHQAMEAMLLYLASRVGD
  TKHGMMKFREDRSLLGLGLPSGGFHDRYFILNSSCLRLYKEVRSQRPWSGAPETSHRPEKEWPIKSLKVYLGVKK
  KLRPPTCWGFTVVHETEKHEKQQWYLCCDTQMELREWFATFLFVQHDGLVWPSEPSRVSRAVPEVRLGSVSLIPL
  RGSENEMRRSVAAFTADPLSLLRNV

• Structural information:
  • Protein Domains: (6..7-)
    (/note="SAM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00184-)
    (327..41-)
    (/note="PH-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145-)
    (440..52-)
    (/note="PH-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145-)
    (535-)
  • Interpro: IPR037278  IPR001164  IPR038508  IPR011993  IPR001849   IPR000159  IPR008936  IPR037858  IPR000198  IPR001660  IPR013761  
  • Prosite: PS50115 PS50003 PS50200 PS50238 PS50105
  • CDD: cd04385
  • PDB: 4X1V
  • PDBsum: 4X1V
  • STRING: ENSP00000377233
• Other Databases: GeneCards:  ARAP1  Malacards:  ARAP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005886	plasma membrane	IBA	cellular component
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0005802	trans-Golgi network	IBA	cellular component
GO:0031410	cytoplasmic vesicle	IBA	cellular component
GO:0007165	signal transduction	IEA	biological process
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005547	phosphatidylinositol-3,4,5-trisphosphate binding	IEA	molecular function
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0045742	positive regulation of epidermal growth factor receptor signaling pathway	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0051056	regulation of small GTPase mediated signal transduction	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:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005802	trans-Golgi network	IEA	cellular component
GO:0031702	type 1 angiotensin receptor binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0001921	positive regulation of receptor recycling	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0032580	Golgi cisterna membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005547	phosphatidylinositol-3,4,5-trisphosphate binding	IDA	molecular function
GO:0043547	positive regulation of GTPase activity	IDA	biological process
GO:0005096	GTPase activator activity	IDA	molecular function
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0051497	negative regulation of stress fiber assembly	IMP	biological process
GO:0051270	regulation of cellular component movement	IMP	biological process
GO:0008360	regulation of cell shape	IMP	biological process
GO:0051491	positive regulation of filopodium assembly	IMP	biological process
GO:0030037	actin filament reorganization involved in cell cycle	TAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
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
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray