WAPL WAPL cohesin release factor [Homo sapiens (human)] - Gene

Summary

Official Symbol: WAPLprovided by HGNC
Official Full Name: WAPL cohesin release factorprovided by HGNC
Primary source: HGNC:HGNC:23293
See related: Ensembl:ENSG00000062650 MIM:610754; AllianceGenome:HGNC:23293
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: FOE; WAPAL; KIAA0261
Summary: Involved in several processes, including negative regulation of DNA replication; negative regulation of chromatin binding activity; and regulation of sister chromatid cohesion. Located in several cellular components, including Golgi apparatus; intercellular bridge; and microtubule cytoskeleton. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in testis (RPKM 17.0), lymph node (RPKM 9.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q23.2

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (86435256..86521792, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (87315788..87405903, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (88195013..88281549, complement)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A Mediator-cohesin axis controls heterochromatin domain formation.
Title: A Mediator-cohesin axis controls heterochromatin domain formation.
WAPL induces cervical intraepithelial neoplasia modulated with estrogen signaling without HPV E6/E7.
Title: WAPL induces cervical intraepithelial neoplasia modulated with estrogen signaling without HPV E6/E7.
ESCO1 and CTCF enable formation of long chromatin loops by protecting cohesin(STAG1) from WAPL.
Title: ESCO1 and CTCF enable formation of long chromatin loops by protecting cohesin(STAG1) from WAPL.
WAPL-Dependent Repair of Damaged DNA Replication Forks Underlies Oncogene-Induced Loss of Sister Chromatid Cohesion.
Title: WAPL-Dependent Repair of Damaged DNA Replication Forks Underlies Oncogene-Induced Loss of Sister Chromatid Cohesion.
Absolute copy numbers and dynamics of cohesin, CTCF, NIPBL, WAPL and sororin were measured by mass spectrometry, fluorescence-correlation spectroscopy and fluorescence recovery after photobleaching in HeLa cells.
Title: Absolute quantification of cohesin, CTCF and their regulators in human cells.
In p53-compromised cells we find that lethal replication stress confers WAPL-dependent centromere cohesion defects that maintain spindle assembly checkpoint-dependent mitotic arrest in the same cell cycle.
Title: Replication stress induces mitotic death through parallel pathways regulated by WAPL and telomere deprotection.
Rec8-Stag3 cohesin is shown to be susceptible to Wapl-dependent ring opening and sororin-mediated protection.
Title: Studying meiotic cohesin in somatic cells reveals that Rec8-containing cohesin requires Stag3 to function and is regulated by Wapl and sororin.
We provide evidence that the underlying mechanism involves the viral NS3/4 protease and the cohesin regulator, WAPL
Title: Dysregulation of the cohesin subunit RAD21 by Hepatitis C virus mediates host-virus interactions.
The results indicate a kinase-dependent role for Haspin in antagonizing Wapl and protecting centromeric cohesion in mitosis.
Title: A kinase-dependent role for Haspin in antagonizing Wapl and protecting mitotic centromere cohesion.
The results show that cohesin has an essential genome-wide function in mediating long-range chromatin interactions and support the hypothesis that cohesin creates these by loop extrusion, until it is delayed by CTCF in a manner dependent on PDS5 proteins, or until it is released from DNA by WAPL.
Title: Topologically associating domains and chromatin loops depend on cohesin and are regulated by CTCF, WAPL, and PDS5 proteins.

Submit: New GeneRIF Correction See all GeneRIFs (22)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of periodontal pathogen colonization. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis identifies new susceptibility loci for migraine. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-107756 (e-PCR)
- UniSTS:173848

RH120205 (e-PCR)
- UniSTS:133198

RH130055 (e-PCR)
- UniSTS:213343

RH68106 (e-PCR)
- UniSTS:56945

MARC_12283-12284:1005150312:1 (e-PCR)
- UniSTS:267395

STS-H98757 (e-PCR)
- UniSTS:74919

RH79889 (e-PCR)
- UniSTS:88017

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP-dependent protein-DNA unloader activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in mitotic sister chromatid segregation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of DNA replication	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of chromatin binding	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of sister chromatid cohesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to chromatin	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of chromatin	IDA Inferred from Direct Assay more info	PubMed
located_in chromosome	TAS Traceable Author Statement more info
located_in chromosome, centromeric region	TAS Traceable Author Statement more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in intercellular bridge	IDA Inferred from Direct Assay more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in mitotic spindle	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: wings apart-like protein homolog

Names: friend of EBNA2 (Epstein-Barr virus nuclear protein 2); friend of EBNA2 protein

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_001318328.2 → NP_001305257.1 wings apart-like protein homolog isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate, in-frame splice site in the 5' coding region compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.

Source sequence(s)

AL731569, AL844892

UniProtKB/TrEMBL

B2RTX8

Conserved Domains (1) summary

pfam07814
Location:632 → 992

WAPL; Wings apart-like protein regulation of heterochromatin
NM_015045.5 → NP_055860.1 wings apart-like protein homolog isoform 1

See identical proteins and their annotated locations for NP_055860.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AL731569, AL844892

Consensus CDS

CCDS7375.1

UniProtKB/Swiss-Prot

A7E2B5, Q5VSK5, Q7Z5K2, Q8IX10, Q92549

Related

ENSP00000298767.4, ENST00000298767.10

Conserved Domains (1) summary

pfam07814
Location:638 → 998

WAPL; Wings apart-like protein regulation of heterochromatin