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-terminal portion of the Werner protein. This protein has a ubiquitin-binding zinc-finger domain in the N-terminus, an ATPase do... See more...

Aliases for WRNIP1 Gene

Aliases for WRNIP1 Gene

  • WRN Helicase Interacting Protein 1 2 3 5
  • Werner Helicase Interacting Protein 1 2 3
  • ATPase WRNIP1 3 4
  • WHIP 3 4
  • Werner Helicase-Interacting Protein 1 4
  • Putative Helicase RUVBL 3
  • EC 3.6.1.3 4
  • BA420G6.2 3
  • EC 3.6.1 52

External Ids for WRNIP1 Gene

Previous GeneCards Identifiers for WRNIP1 Gene

  • GC06P002755
  • GC06P002710

Summaries for WRNIP1 Gene

Entrez Gene Summary for WRNIP1 Gene

  • 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-terminal portion of the Werner protein. This protein has a ubiquitin-binding zinc-finger domain in the N-terminus, an ATPase domain, and two leucine zipper motifs in the C-terminus. It has sequence similarity to replication factor C family proteins and is conserved from E. coli to human. This protein likely accumulates at sites of DNA damage by interacting with polyubiquinated proteins and also binds to DNA polymerase delta and increases the initiation frequency of DNA polymerase delta-mediated DNA synthesis. This protein also interacts with nucleoporins at nuclear pore complexes. Two transcript variants encoding different isoforms have been isolated for this gene. [provided by RefSeq, Jul 2012]

GeneCards Summary for WRNIP1 Gene

WRNIP1 (WRN Helicase Interacting Protein 1) is a Protein Coding gene. Diseases associated with WRNIP1 include Werner Syndrome and Pes Anserinus Tendinitis Or Bursitis. Gene Ontology (GO) annotations related to this gene include identical protein binding and four-way junction helicase activity.

UniProtKB/Swiss-Prot Summary for WRNIP1 Gene

  • 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. Plays also a role in the innate immune defense against viruses. Stabilizes the RIG-I/DDX58 dsRNA interaction and promotes RIG-I/DDX58 'Lys-63'-linked polyubiquitination. In turn, RIG-I/DDX58 transmits the signal through mitochondrial MAVS.

Gene Wiki entry for WRNIP1 Gene

Additional gene information for WRNIP1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for WRNIP1 Gene

Genomics for WRNIP1 Gene

GeneHancer (GH) Regulatory Elements for WRNIP1 Gene

Promoters and enhancers for WRNIP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around WRNIP1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for WRNIP1

Top Transcription factor binding sites by QIAGEN in the WRNIP1 gene promoter:
  • aMEF-2
  • AP-1
  • ATF
  • c-Fos
  • c-Jun
  • FosB
  • Fra-1
  • HNF-4alpha1
  • HNF-4alpha2
  • MEF-2A

Genomic Locations for WRNIP1 Gene

Genomic Locations for WRNIP1 Gene
chr6:2,765,341-2,786,952
(GRCh38/hg38)
Size:
21,612 bases
Orientation:
Plus strand
chr6:2,765,648-2,787,186
(GRCh37/hg19)
Size:
21,539 bases
Orientation:
Plus strand

Genomic View for WRNIP1 Gene

Genes around WRNIP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
WRNIP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for WRNIP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for WRNIP1 Gene

Proteins for WRNIP1 Gene

  • Protein details for WRNIP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96S55-WRIP1_HUMAN
    Recommended name:
    ATPase WRNIP1
    Protein Accession:
    Q96S55
    Secondary Accessions:
    • B2RDB0
    • Q53EP6
    • Q59ET8
    • Q5W0E2
    • Q5W0E4
    • Q8WV26
    • Q9H681
    • Q9NRJ6

    Protein attributes for WRNIP1 Gene

    Size:
    665 amino acids
    Molecular mass:
    72133 Da
    Quaternary structure:
    • Forms homooligomers (PubMed:18842586), possibly octamers. Directly interacts with POLD1, POLD2 and POLD4 (PubMed:15670210). Interacts with the N-terminal domain of WRN (By similarity). Interacts (via UBZ4-type zinc finger) with monoubiquitin and polyubiquitin (PubMed:17550899, PubMed:18842586). Interacts with TRIM14 and PPP6C; these interactions positively regulate the RIG-I/DDX58 signaling pathway (PubMed:29053956).
    SequenceCaution:
    • Sequence=AAF80563.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB15383.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for WRNIP1 Gene

    Alternative splice isoforms for WRNIP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for WRNIP1 Gene

Selected DME Specific Peptides for WRNIP1 Gene

Q96S55:
  • LFIDEIH
  • FIDEIHR

Post-translational modifications for WRNIP1 Gene

  • Sumoylated with SUMO1 and SUMO2/3.
  • Ubiquitination at Lys225, Lys286, Lys81, Lys301, Lys310, Lys316, Lys322, Lys335, Lys508, Lys141, Lys601, Lys627, Lys636, and Lys661
  • Modification sites at PhosphoSitePlus

Other Protein References for WRNIP1 Gene

Domains & Families for WRNIP1 Gene

Gene Families for WRNIP1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for WRNIP1 Gene

Suggested Antigen Peptide Sequences for WRNIP1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ37504 fis, clone BRAWH2017103, highly similar to ATPase WRNIP1 (B3KT25_HUMAN)
  • Werner helicase-interacting protein 1 (WRIP1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96S55

UniProtKB/Swiss-Prot:

WRIP1_HUMAN :
  • The UBZ4-type zinc finger binds ubiquitin.
  • Belongs to the AAA ATPase family. RarA/MGS1/WRNIP1 subfamily.
Domain:
  • The UBZ4-type zinc finger binds ubiquitin.
Family:
  • Belongs to the AAA ATPase family. RarA/MGS1/WRNIP1 subfamily.
genes like me logo Genes that share domains with WRNIP1: view

Function for WRNIP1 Gene

Molecular function for WRNIP1 Gene

UniProtKB/Swiss-Prot 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. Plays also a role in the innate immune defense against viruses. Stabilizes the RIG-I/DDX58 dsRNA interaction and promotes RIG-I/DDX58 'Lys-63'-linked polyubiquitination. In turn, RIG-I/DDX58 transmits the signal through mitochondrial MAVS.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.1.3; Evidence=. ;.

Enzyme Numbers (IUBMB) for WRNIP1 Gene

Phenotypes From GWAS Catalog for WRNIP1 Gene

Gene Ontology (GO) - Molecular Function for WRNIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 15670210
GO:0005524 ATP binding IEA --
GO:0008047 enzyme activator activity IBA 21873635
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with WRNIP1: view
genes like me logo Genes that share phenotypes with WRNIP1: view

Animal Models for WRNIP1 Gene

MGI Knock Outs for WRNIP1:
  • Wrnip1 Wrnip1<tm1b(EUCOMM)Wtsi>
  • Wrnip1 Wrnip1<tm1a(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

miRNA for WRNIP1 Gene

miRTarBase miRNAs that target WRNIP1

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for WRNIP1 Gene

Localization for WRNIP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for WRNIP1 Gene

Nucleus. Cytoplasm. Note=Colocalizes with WRN in granular structures in the nucleus. {ECO:0000269 PubMed:18842586, ECO:0000269 PubMed:29053956}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for WRNIP1 gene
Compartment Confidence
nucleus 5
mitochondrion 3
cytoskeleton 2
cytosol 2
plasma membrane 1
extracellular 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for WRNIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000784 colocalizes_with nuclear chromosome, telomeric region IDA 24270157
GO:0005634 nucleus IBA,ISS --
GO:0005737 cytoplasm IEA --
GO:0016020 membrane HDA 19946888
GO:0048471 perinuclear region of cytoplasm IDA 17888034
genes like me logo Genes that share ontologies with WRNIP1: view

Pathways & Interactions for WRNIP1 Gene

PathCards logo

SuperPathways for WRNIP1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for WRNIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000731 DNA synthesis involved in DNA repair IDA 15670210
GO:0002376 immune system process IEA --
GO:0006260 DNA replication IEA --
GO:0006261 DNA-dependent DNA replication IBA 21873635
GO:0006281 DNA repair IEA --
genes like me logo Genes that share ontologies with WRNIP1: view

No data available for Pathways by source and SIGNOR curated interactions for WRNIP1 Gene

Drugs & Compounds for WRNIP1 Gene

No Compound Related Data Available

Transcripts for WRNIP1 Gene

mRNA/cDNA for WRNIP1 Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for WRNIP1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7 ^ 8 ^ 9
SP1: - - -
SP2: - - - -
SP3: -
SP4: -
SP5: -
SP6: - - - - - -

Relevant External Links for WRNIP1 Gene

GeneLoc Exon Structure for
WRNIP1

Expression for WRNIP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for WRNIP1 Gene

Protein differential expression in normal tissues from HIPED for WRNIP1 Gene

This gene is overexpressed in Lymph node (11.1), Peripheral blood mononuclear cells (8.0), and Placenta (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for WRNIP1 Gene



Protein tissue co-expression partners for WRNIP1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for WRNIP1

SOURCE GeneReport for Unigene cluster for WRNIP1 Gene:

Hs.236828

mRNA Expression by UniProt/SwissProt for WRNIP1 Gene:

Q96S55-WRIP1_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for WRNIP1 Gene

  • Liver(4.2)
  • Nervous system(3.7)
  • Lung(2.9)
  • Muscle(2.2)
genes like me logo Genes that share expression patterns with WRNIP1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for WRNIP1 Gene

Orthologs for WRNIP1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for WRNIP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia WRNIP1 31 30
  • 99 (n)
OneToOne
dog
(Canis familiaris)
Mammalia WRNIP1 31 30
  • 91.61 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Wrnip1 17 31 30
  • 89.19 (n)
rat
(Rattus norvegicus)
Mammalia Wrnip1 30
  • 87.83 (n)
cow
(Bos Taurus)
Mammalia WRNIP1 31 30
  • 82.55 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia WRNIP1 31
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia WRNIP1 31
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves WRNIP1 31 30
  • 74.03 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia WRNIP1 31
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia wrnip1 30
  • 66.74 (n)
Str.10820 30
zebrafish
(Danio rerio)
Actinopterygii wrnip1 31 30
  • 68.13 (n)
OneToOne
Dr.16690 30
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABL183W 30
  • 53.17 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MGS1 33 31 30
  • 51.12 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D19360g 30
  • 50.6 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G24290 30
  • 55.42 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU08706 30
  • 52.97 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC26H5.02c 30
  • 52.92 (n)
Species where no ortholog for WRNIP1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for WRNIP1 Gene

ENSEMBL:
Gene Tree for WRNIP1 (if available)
TreeFam:
Gene Tree for WRNIP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for WRNIP1: view image

Paralogs for WRNIP1 Gene

No data available for Paralogs for WRNIP1 Gene

Variants for WRNIP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for WRNIP1 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
719968 Likely Benign: not provided 2,766,396(+) C/G SYNONYMOUS_VARIANT,INTRON_VARIANT
732958 Likely Benign: not provided 2,766,156(+) G/T SYNONYMOUS_VARIANT,INTRON_VARIANT
770919 Benign: not provided 2,768,731(+) A/G MISSENSE_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for WRNIP1 Gene

Structural Variations from Database of Genomic Variants (DGV) for WRNIP1 Gene

Variant ID Type Subtype PubMed ID
esv1193325 CNV insertion 17803354
esv3307182 CNV mobile element insertion 20981092
esv3309004 CNV mobile element insertion 20981092
esv3347625 CNV insertion 20981092
esv3396658 CNV insertion 20981092
esv3607900 CNV gain 21293372
esv3607912 CNV gain 21293372
nsv1126742 CNV deletion 24896259

Variation tolerance for WRNIP1 Gene

Residual Variation Intolerance Score: 61.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.64; 56.72% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for WRNIP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
WRNIP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for WRNIP1 Gene

Disorders for WRNIP1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for WRNIP1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
werner syndrome
  • wrn
pes anserinus tendinitis or bursitis
posterior myocardial infarction
spastic monoplegia
  • infantile monoplegic cerebral palsy
bruxism
  • bruxism - teeth grinding
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for WRNIP1

genes like me logo Genes that share disorders with WRNIP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for WRNIP1 Gene

Publications for WRNIP1 Gene

No publications were found for WRNIP1 Gene.

Products for WRNIP1 Gene

Sources for WRNIP1 Gene