• Gene id: 56897

Gene Summary

• Gene Symbol: WRNIP1   Gene   UCSC   Ensembl
• Aliases: CFAP93, FAP93, WHIP, bA420G6.2
• Gene name: WRN helicase interacting protein 1
• Alternate names: ATPase WRNIP1, Werner helicase interacting protein 1, putative helicase RUVBL,
• Gene location: 6p25.2 (2765340: 2786951)     Exons: 8     NC_000006.12
• Gene summary(Entrez): Werner's syndrome is a rare autosomal recessive disorder characterized by accelerated aging that is caused by defects in the Werner syndrome ATP-dependent helicase gene (WRN). The protein encoded by this gene interacts with the exonuclease-containing N-te
• OMIM: 608196

Protein Summary

• Protein general information: Q96S55  
  • Name: ATPase WRNIP1 (EC 3.6.1.3) (Werner helicase interacting protein 1)
  • Length: 665  
  • Mass: 72133
  • Tissue specificity: Ubiquitously expressed. {ECO
• Sequence:

  MEVSGPEDDPFLSQLHQVQCPVCQQMMPAAHINSHLDRCLLLHPAGHAEPAAGSHRAGERAKGPSPPGAKRRRLS
  ESSALKQPATPTAAESSEGEGEEGDDGGETESRESYDAPPTPSGARLIPDFPVARSSSPGRKGSGKRPAAAAAAG
  SASPRSWDEAEAQEEEEAVGDGDGDGDADADGEDDPGHWDADAAEAATAFGASGGGRPHPRALAAEEIRQMLQGK
  PLADTMRPDTLQDYFGQSKAVGQDTLLRSLLETNEIPSLILWGPPGCGKTTLAHIIASNSKKHSIRFVTLSATNA
  KTNDVRDVIKQAQNEKSFFKRKTILFIDEIHRFNKSQQDTFLPHVECGTITLIGATTENPSFQVNAALLSRCRVI
  VLEKLPVEAMVTILMRAINSLGIHVLDSSRPTDPLSHSSNSSSEPAMFIEDKAVDTLAYLSDGDARAGLNGLQLA
  VLARLSSRKMFCKKSGQSYSPSRVLITENDVKEGLQRSHILYDRAGEEHYNCISALHKSMRGSDQNASLYWLARM
  LEGGEDPLYVARRLVRFASEDIGLADPSALTQAVAAYQGCHFIGMPECEVLLAQCVVYFARAPKSIEVYSAYNNV
  KACLRNHQGPLPPVPLHLRNAPTRLMKDLGYGKGYKYNPMYSEPVDQEYLPEELRGVDFFKQRRC

• Structural information:
  • Interpro: IPR003593  IPR032423  IPR003959  IPR008921  IPR021886   IPR027417  IPR040539  IPR006642  
  • Prosite: PS51908
  • PDB: 3VHS 3VHT
  • PDBsum: 3VHS 3VHT
  • STRING: ENSP00000370150
• Other Databases: GeneCards:  WRNIP1  Malacards:  WRNIP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0017116	single-stranded DNA helicase activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0006261	DNA-dependent DNA replication	IBA	biological process
GO:0006282	regulation of DNA repair	IBA	biological process
GO:0008047	enzyme activator activity	IBA	molecular function
GO:0006260	DNA replication	IEA	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0002376	immune system process	IEA	biological process
GO:0045087	innate immune response	IEA	biological process
GO:0006260	DNA replication	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016887	ATPase activity	IEA	molecular function
GO:0042802	identical 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:0005634	nucleus	IEA	cellular component
GO:0000784	nuclear chromosome, telomeric region	IDA	colocalizes with
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0043085	positive regulation of catalytic activity	IEA	biological process
GO:0032508	DNA duplex unwinding	IEA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0030174	regulation of DNA-dependent DNA replication initiation	IDA	biological process
GO:0000731	DNA synthesis involved in DNA repair	IDA	biological process
GO:0005634	nucleus	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	HDA	cellular component
GO:0016887	ATPase activity	IMP	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
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
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray