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

    Gene ID: 56897, updated on 9-Dec-2024

    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; AllianceGenome:HGNC:20876
    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; FAP93; CFAP93; 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
    NEW
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    Try the new Transcript table

    Genomic context

    See WRNIP1 in Genome Data Viewer
    Location:
    6p25.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (2765393..2786952)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (2631255..2653114)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (2765627..2787186)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1600 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:2639651-2640166 Neighboring gene long intergenic non-protein coding RNA 2521 Neighboring gene NANOG hESC enhancer GRCh37_chr6:2665381-2665947 Neighboring gene myosin light chain kinase family member 4 Neighboring gene uncharacterized LOC124901240 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23872 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:2734004-2734694 Neighboring gene Sharpr-MPRA regulatory region 12436 Neighboring gene Sharpr-MPRA regulatory region 3200 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:2764192-2765071 Neighboring gene Sharpr-MPRA regulatory region 3960 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16830 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16831 Neighboring gene uncharacterized LOC124901241 Neighboring gene Sharpr-MPRA regulatory region 6984 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:2798034-2798138 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:2802330-2802830 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:2809907-2811106 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16832 Neighboring gene serpin family B member 1

    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 Functions

    What'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

    Clone Names

    • FLJ22526

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP hydrolysis activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables ATP-dependent H2AZ histone chaperone activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP-dependent H3-H4 histone complex chaperone activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables DNA clamp loader activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables chromatin extrusion motor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables cohesin loader activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables enzyme activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables single-stranded DNA helicase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in DNA duplex unwinding IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in DNA synthesis involved in DNA repair IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in DNA synthesis involved in DNA repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in DNA-templated DNA replication IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in chromatin looping IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in innate immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of DNA-templated DNA replication initiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    colocalizes_with chromosome, telomeric region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane HDA PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in 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
    XP_047275034.1
    XP_054211912.1
    XP_054211913.1
    XP_054211914.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      B2RDB0, Q53EP6, Q59ET8, Q5W0E2, Q5W0E4, Q8WV26, Q96S55, Q9H681, Q9NRJ6
      UniProtKB/TrEMBL
      B3KT25
      Related
      ENSP00000370150.4, ENST00000380773.9
      Conserved Domains (3) summary
      smart00734
      Location:1740
      ZnF_Rad18; Rad18-like CCHC zinc finger
      COG5432
      Location:1883
      RAD18; RING-finger-containing E3 ubiquitin ligase [Signal transduction mechanisms]
      PRK13342
      Location:226661
      PRK13342; recombination factor protein RarA; Reviewed
    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/TrEMBL
      B3KT25
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      2765393..2786952
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047419078.1XP_047275034.1  ATPase WRNIP1 isoform X3

    2. XM_005249232.4XP_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
    3. XM_017011060.2XP_016866549.1  ATPase WRNIP1 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      2631255..2653114
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355939.1XP_054211914.1  ATPase WRNIP1 isoform X3

    2. XM_054355938.1XP_054211913.1  ATPase WRNIP1 isoform X2

    3. XM_054355937.1XP_054211912.1  ATPase WRNIP1 isoform X1