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WRNIP1 WRN helicase interacting protein 1 [ Homo sapiens (human) ]

Gene ID: 56897, updated on 17-Jun-2019

Summary

Official Symbol
WRNIP1provided by HGNC
Official Full Name
WRN helicase interacting protein 1provided by HGNC
Primary source
HGNC:HGNC:20876
See related
Ensembl:ENSG00000124535 MIM:608196
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
WHIP; bA420G6.2
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-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]
Expression
Ubiquitous expression in thyroid (RPKM 15.6), placenta (RPKM 14.5) and 25 other tissues See more
Orthologs

Genomic context

See WRNIP1 in Genome Data Viewer
Location:
6p25.2
Exon count:
8
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (2765341..2786952)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (2765575..2785979)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene myosin light chain kinase family member 4 Neighboring gene Sharpr-MPRA regulatory region 3200 Neighboring gene Sharpr-MPRA regulatory region 3960 Neighboring gene serpin family B member 1 Neighboring gene Sharpr-MPRA regulatory region 12426

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat Depletion of Werner helicase interacting protein 1 (WRNIP1) by siRNA enhances HIV-1 Tat activation of HIV-1 LTR, which is not the results of increased Tat expression and release of CDK9/CCNT1 from 7SK snRNP, and activation of NF-kappaB PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ22526

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ATPase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
DNA binding IEA
Inferred from Electronic Annotation
more info
 
enzyme activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
single-stranded DNA-dependent ATP-dependent DNA helicase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
DNA duplex unwinding IEA
Inferred from Electronic Annotation
more info
 
DNA synthesis involved in DNA repair IDA
Inferred from Direct Assay
more info
PubMed 
DNA-dependent DNA replication IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
innate immune response IEA
Inferred from Electronic Annotation
more info
 
positive regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
 
regulation of DNA repair IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of DNA-dependent DNA replication initiation IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
membrane HDA PubMed 
colocalizes_with nuclear chromosome, telomeric region IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
ATPase WRNIP1
Names
Werner helicase interacting protein 1
putative helicase RUVBL
NP_064520.2
NP_569079.1
XP_005249289.1
XP_016866549.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_020135.3NP_064520.2  ATPase WRNIP1 isoform 1

    See identical proteins and their annotated locations for NP_064520.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AL139092
    Consensus CDS
    CCDS4475.1
    UniProtKB/Swiss-Prot
    Q96S55
    Related
    ENSP00000477551.1, ENST00000618555.4
    Conserved Domains (3) summary
    smart00734
    Location:1740
    ZnF_Rad18; Rad18-like CCHC zinc finger
    PRK13342
    Location:226661
    PRK13342; recombination factor protein RarA; Reviewed
    cl28410
    Location:1883
    RAD18; RING-finger-containing E3 ubiquitin ligase [Signal transduction mechanisms]
  2. NM_130395.3NP_569079.1  ATPase WRNIP1 isoform 2

    See identical proteins and their annotated locations for NP_569079.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) utilizes a different acceptor splice site for an internal coding exon, compared to transcript variant 1. This variant maintains the same reading frame but encodes an isoform (2) which is 25 aa shorter than isoform 1.
    Source sequence(s)
    AK315047, AL139092, BC018923
    Consensus CDS
    CCDS4476.1
    UniProtKB/Swiss-Prot
    Q96S55
    Related
    ENSP00000370148.4, ENST00000380771.8
    Conserved Domains (3) summary
    smart00734
    Location:1740
    ZnF_Rad18; Rad18-like CCHC zinc finger
    PRK13342
    Location:226636
    PRK13342; recombination factor protein RarA; Reviewed
    cl28410
    Location:1883
    RAD18; RING-finger-containing E3 ubiquitin ligase [Signal transduction mechanisms]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    2765341..2786952
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005249232.3XP_005249289.1  ATPase WRNIP1 isoform X2

    Conserved Domains (3) summary
    cd00009
    Location:246376
    AAA; The AAA+ (ATPases Associated with a wide variety of cellular Activities) superfamily represents an ancient group of ATPases belonging to the ASCE (for additional strand, catalytic E) division of the P-loop NTPase fold. The ASCE division also includes ABC, ...
    smart00734
    Location:1740
    ZnF_Rad18; Rad18-like CCHC zinc finger
    smart00382
    Location:263380
    AAA; ATPases associated with a variety of cellular activities
  2. XM_017011060.1XP_016866549.1  ATPase WRNIP1 isoform X1

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