Gene Gene information from NCBI Gene database.
Entrez ID 56897
Gene name WRN helicase interacting protein 1
Gene symbol WRNIP1
Synonyms (NCBI Gene)
CFAP93FAP93WHIPbA420G6.2
Chromosome 6
Chromosome location 6p25.2
Summary 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
miRNA miRNA information provided by mirtarbase database.
133
miRTarBase ID miRNA Experiments Reference
MIRT168334 hsa-miR-92a-3p HITS-CLIP 22473208
MIRT168347 hsa-miR-92b-3p HITS-CLIP 22473208
MIRT168333 hsa-miR-32-5p HITS-CLIP 22473208
MIRT1494110 hsa-miR-22 CLIP-seq
MIRT1494111 hsa-miR-25 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000731 Process DNA synthesis involved in DNA repair IBA
GO:0000731 Process DNA synthesis involved in DNA repair IDA 15670210
GO:0000781 Component Chromosome, telomeric region IDA 24270157
GO:0002376 Process Immune system process IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608196 20876 ENSG00000124535
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96S55
Protein name ATPase WRNIP1 (EC 3.6.1.-) (Werner helicase-interacting protein 1)
Protein function Functions as a modulator of initiation or reinitiation events during DNA polymerase delta-mediated DNA synthesis. In the presence of ATP, stimulation of DNA polymerase delta-mediated DNA synthesis is decreased. Also plays a role in the innate im
PDB 3VHS , 3VHT
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF18279 zf-WRNIP1_ubi 16 36 Werner helicase-interacting protein 1 ubiquitin-binding domain Domain
PF00004 AAA 264 379 ATPase family associated with various cellular activities (AAA) Domain
PF16193 AAA_assoc_2 418 511 AAA C-terminal domain Family
PF12002 MgsA_C 512 664 MgsA AAA+ ATPase C terminal Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:11301316}.
Sequence
MEVSGPEDDPFLSQLHQVQCPVCQQMMPAAHINSHLDRCLLLHPAGHAEPAAGSHRAGER
AKGPSPPGAKRRRLSESSALKQPATPTAAESSEGEGEEGDDGGETESRESYDAPPTPSGA
RLIPDFPVARSSSPGRKGSGKRPAAAAAAGSASPRSWDEAEAQEEEEAVGDGDGDGDADA
DGEDDPGHWDADAAEAATAFGASGGGRPHPRALAAEEIRQMLQGKPLADTMRPDTLQDYF
GQSKAVGQDTLLRSLLETNEIPSLILWGPPGCGKTTLAHIIASNSKKHSIRFVTLSATNA
KTNDVRDVIKQAQNEKSFFKRKTILFIDEIHRFNKSQQDTFLPHVECGTITLIGATTENP
SFQVNAALLSRCRVIVLEK
LPVEAMVTILMRAINSLGIHVLDSSRPTDPLSHSSNSSSEP
AMFIEDKAVDTLAYLSDGDARAGLNGLQLAVLARLSSRKMFCKKSGQSYSPSRVLITEND
VKEGLQRSHILYDRAGEEHYNCISALHKSMR
GSDQNASLYWLARMLEGGEDPLYVARRLV
RFASEDIGLADPSALTQAVAAYQGCHFIGMPECEVLLAQCVVYFARAPKSIEVYSAYNNV
KACLRNHQGPLPPVPLHLRNAPTRLMKDLGYGKGYKYNPMYSEPVDQEYLPEELRGVDFF
KQRR
C
Sequence length 665
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ASTROCYTOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MENTAL OR BEHAVIOURAL DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
WRNIP1-related disorder Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Leukemia Promyelocytic Acute Promyelocytic leukemia Pubtator 18842586 Associate
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Lung neoplasms Pubtator 17888034 Associate
★☆☆☆☆
Found in Text Mining only
Premature aging syndrome Premature aging BEFREE 28118071
★☆☆☆☆
Found in Text Mining only
Small Cell Lung Carcinoma Small cell lung carcinoma Pubtator 31190355 Associate
★☆☆☆☆
Found in Text Mining only
Werner Syndrome Werner syndrome Pubtator 11301316, 21804224, 31061318 Associate
★☆☆☆☆
Found in Text Mining only
Werner Syndrome Werner Syndrome BEFREE 28118071, 31061318
★☆☆☆☆
Found in Text Mining only