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

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: mouse all
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Genomic context

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_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Werner helicase interacting protein 1 contributes to G-quadruplex processing in human cells.
Title: Werner helicase interacting protein 1 contributes to G-quadruplex processing in human cells.
WRNIP1 prevents transcription-associated genomic instability.
Title: WRNIP1 prevents transcription-associated genomic instability.
AXL/WRNIP1 Mediates Replication Stress Response and Promotes Therapy Resistance and Metachronous Metastasis in HER2+ Breast Cancer.
Title: AXL/WRNIP1 Mediates Replication Stress Response and Promotes Therapy Resistance and Metachronous Metastasis in HER2+ Breast Cancer.
Discovering the nuclear localization signal of Werner Helicase Interacting Protein 1.
Title: Discovering the nuclear localization signal of Werner Helicase Interacting Protein 1.
Functional Domain Mapping of Werner Interacting Protein 1 (WRNIP1).
Title: Functional Domain Mapping of Werner Interacting Protein 1 (WRNIP1).
R-Loop-Associated Genomic Instability and Implication of WRN and WRNIP1.
Title: R-Loop-Associated Genomic Instability and Implication of WRN and WRNIP1.
WRNIP1 Is Recruited to DNA Interstrand Crosslinks and Promotes Repair.
Title: WRNIP1 Is Recruited to DNA Interstrand Crosslinks and Promotes Repair.
miR-22 enhances the radiosensitivity of small-cell lung cancer by targeting the WRNIP1.
Title: miR-22 enhances the radiosensitivity of small-cell lung cancer by targeting the WRNIP1.
The WRNIP1-mediated reduction in the amount of PrimPol was suppressed by treatment of the cells with proteasome inhibitors, suggesting that WRNIP1 is involved in the degradation of PrimPol via the proteasome.
Title: WRNIP1 Controls the Amount of PrimPol.
findings define the WHIP-TRIM14-PPP6C mitochondrial signalosome required for RIG-I-mediated innate antiviral immunity.
Title: Assembly of the WHIP-TRIM14-PPP6C Mitochondrial Complex Promotes RIG-I-Mediated Antiviral Signaling.

Submit: New GeneRIF Correction See all GeneRIFs (20)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-34828 (e-PCR)
- UniSTS:28553

SGC33420 (e-PCR)
- UniSTS:1680

RH123951 (e-PCR)
- UniSTS:136087

D1S3693 (e-PCR)
- UniSTS:474271

SHGC-77842 (e-PCR)
- UniSTS:101026

A002J08 (e-PCR)
- UniSTS:50623

A006H22 (e-PCR)
- UniSTS:9924

G32355 (e-PCR)
- UniSTS:116946

RH92011 (e-PCR)
- UniSTS:84717

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 more info	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

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Preferred Names: ATPase WRNIP1

Names: Werner helicase interacting protein 1; putative helicase RUVBL

NP_064520.2

EC 3.6.1.3

NP_569079.1

EC 3.6.1.3

XP_005249289.1

EC 3.6.1.3

XP_016866549.1

EC 3.6.1.3

XP_047275034.1

EC 3.6.1.3

XP_054211912.1

EC 3.6.1.3

XP_054211913.1

EC 3.6.1.3

XP_054211914.1

EC 3.6.1.3

NCBI Reference Sequences (RefSeq)

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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)

NM_020135.3 → NP_064520.2 ATPase WRNIP1 isoform 1

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:17 → 40

ZnF_Rad18; Rad18-like CCHC zinc finger

COG5432
Location:18 → 83

RAD18; RING-finger-containing E3 ubiquitin ligase [Signal transduction mechanisms]

PRK13342
Location:226 → 661

PRK13342; recombination factor protein RarA; Reviewed
NM_130395.3 → NP_569079.1 ATPase WRNIP1 isoform 2

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:17 → 40

ZnF_Rad18; Rad18-like CCHC zinc finger

PRK13342
Location:226 → 636

PRK13342; recombination factor protein RarA; Reviewed

cl28410
Location:18 → 83

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

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

2765393..2786952

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047419078.1 → XP_047275034.1 ATPase WRNIP1 isoform X3
XM_005249232.4 → XP_005249289.1 ATPase WRNIP1 isoform X2

Conserved Domains (3) summary

cd00009
Location:246 → 376

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:17 → 40

ZnF_Rad18; Rad18-like CCHC zinc finger

smart00382
Location:263 → 380

AAA; ATPases associated with a variety of cellular activities
XM_017011060.2 → XP_016866549.1 ATPase WRNIP1 isoform X1