• Gene id: 23742

Gene Summary

• Gene Symbol: NPAP1   Gene   UCSC   Ensembl
• Aliases: C15orf2
• Gene name: nuclear pore associated protein 1
• Alternate names: nuclear pore-associated protein 1, protein C15orf2,
• Gene location: 15q11.2 (24675774: 24683392)     Exons: 1     NC_000015.10
• Gene summary(Entrez): This gene is located in the Prader-Willi syndrome region on chromosome 15. This gene is biallelically expressed in adult testis and brain but is paternally imprinted in fetal brain. Defects in this gene may be associated with Prader-Willi syndrome. [provi
• OMIM: 610922

Protein Summary

• Protein general information: Q9NZP6  
  • Name: Nuclear pore associated protein 1
  • Length: 1156  
  • Mass: 120954
  • Tissue specificity: Testis-specific in adults. In fetal brain expressed only from the paternal allele. {ECO
• Sequence:

  MGNLLSKFRPGCRRRPLPGPGRGAPAPLSRDASPPGRAHSVPTPRPFRGLFRRNARRRPSAASIFVAPKRPCPLP
  RAAAAPLGVLPAVGWGLAIRKTPMLPARNPPRFGHPSSVRIPPPSRMFTLLLPSPREPAVKARKPIPATLLEETE
  VWAQEGPRRVKKDEDPVQIEGEDDEKRTPLSSGEASSTSRSQGTQGDVASFRCSPGPLEGNVYHKFSENSMSEKA
  QASPASSCLEGPAMPSTHSQAGCARHLGKPDPDATAPPEPAVGCSLLQQKLAAEVLNEEPPPSSLGLPIPLMSGK
  RMPDEKPFCIPPRSAAPPRAARNRPCKRKMSIPLLLPLPPSLPLLWDRGELPPPAKLPCLSVEGDLHTLEKSPEY
  KRNSRILEDKTETMTNSSITQPAPSFSQPVQTTDSLPLTTYTSQVSAPLPIPDLADLATGPLILPIPPLSTTPKM
  DEKIAFTIPNSPLALPADLVPILGDQSNEKGGSYNSVVGAAPLTSDPPTPPSSTPSFKPPVTRESPISMCVDSPP
  PLSFLTLLPVPSTGTSVITSKPMNSTSVISTVTTNASAHLTSQTAVDPEVVNMDTTAPSQVVIFTSSLSSRVSSL
  PNSQIHCSAEQRHPGKTSVYTSPLPFIFHNTTPSFNQLFGKEATPQPKFEAPDGQPQKASLPSACVFLSLPIIPP
  PDTSTLVNSASTASSSKPPIETNAMHTTPPSKAVILQSASVSKKYLPFYLGLPGSGNTQPSGNTASVQGSTSLPA
  QSVRAPATASNHPLNPGATPQPKFGAPDGPQQKTSLPSAHDFLSLPIMVPPDTSTLVSSASAASLSKPAIDTSDM
  NTTPPSKTVILQSTFVSRKEEYIRFYMGLPGSGNTLHSDSIASAQVSTSFPAQADRRPTTTSSHPLNTGSISHST
  LGATDGQQKSDSSFILGNPATPAPVIGLTSPSVQPLSGSIIPPGFAELTSPYTALGTPVNAEPVEGHNASAFPNG
  TAKTSGFRIATGMPGTGDSTLLVGNTIPGPQVIMGPGTPMDGGSIGFSMSAPGPSSTSGELNIGQGQSGTPSTTS
  VFPFGQAAWDPTGHSMAAAPQGASNIPVFGYTSAAAYIPGLDPPTQNSCSGMGGDGTRSIVGGPCVPAFQQCILQ
  HTWTERKFYTSSTHYYGQETYVRRHVCFQLP

• Structural information:
  • Interpro: IPR026054  
  • STRING: ENSP00000333735
• Other Databases: GeneCards:  NPAP1  Malacards:  NPAP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0017056	structural constituent of nuclear pore	IBA	molecular function
GO:0008139	nuclear localization sequence binding	IBA	molecular function
GO:0006405	RNA export from nucleus	IBA	biological process
GO:0005643	nuclear pore	IBA	cellular component
GO:0006606	protein import into nucleus	IBA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0005637	nuclear inner membrane	IEA	cellular component
GO:0005654	nucleoplasm	IEA	cellular component
GO:0007283	spermatogenesis	NAS	biological process
GO:0003674	molecular_function	ND	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq