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

Gene ID: 23063, updated on 17-Jun-2019

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
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
Expression
Ubiquitous expression in testis (RPKM 17.0), lymph node (RPKM 9.9) and 25 other tissues See more
Orthologs

Genomic context

See WAPL in Genome Data Viewer
Location:
10q23.2
Exon count:
20
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (86435256..86521816, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (88195013..88281541, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene glutamate ionotropic receptor delta type subunit 1 Neighboring gene RNA, 5S ribosomal pseudogene 322 Neighboring gene microRNA 346 Neighboring gene RNA, U6 small nuclear 780, pseudogene Neighboring gene uncharacterized LOC105378408 Neighboring gene uncharacterized LOC105378407 Neighboring gene uncharacterized LOC105378406

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?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
    Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
  • Cohesin Loading onto Chromatin, organism-specific biosystem (from REACTOME)
    Cohesin Loading onto Chromatin, organism-specific biosystemIn mitotic telophase, as chromosomes decondense, cohesin complex associated with PDS5 (PDS5A and PDS5B) and WAPAL (WAPL) proteins is loaded onto chromatin (Shintomi and Hirano, 2009, Kueng et al. 200...
  • Establishment of Sister Chromatid Cohesion, organism-specific biosystem (from REACTOME)
    Establishment of Sister Chromatid Cohesion, organism-specific biosystemThe cohesin complex loads onto chromatin in telophase, but its association with chromatin remains transient, dynamic until the S-phase of the cell cycle, presumably because the cohesin-bound NIPBL:MA...
  • M Phase, organism-specific biosystem (from REACTOME)
    M Phase, organism-specific biosystemMitosis, or the M phase, involves nuclear division and cytokinesis, where two identical daughter cells are produced. Mitosis involves prophase, prometaphase, metaphase, anaphase, and telophase. Fin...
  • Mitotic Anaphase, organism-specific biosystem (from REACTOME)
    Mitotic Anaphase, organism-specific biosystemIn anaphase, the paired chromosomes separate at the centromeres, and move to the opposite sides of the cell. The movement of the chromosomes is facilitated by a combination of kinetochore movement al...
  • Mitotic Metaphase and Anaphase, organism-specific biosystem (from REACTOME)
    Mitotic Metaphase and Anaphase, organism-specific biosystemMetaphase is marked by the formation of the metaphase plate. The metaphase plate is formed when the spindle fibers align the chromosomes along the middle of the cell. Such an organization helps to ...
  • Mitotic Prometaphase, organism-specific biosystem (from REACTOME)
    Mitotic Prometaphase, organism-specific biosystemThe dissolution of the nuclear membrane marks the beginning of the prometaphase. Kinetochores are created when proteins attach to the centromeres. Microtubules then attach at the kinetochores, and th...
  • Mitotic Telophase/Cytokinesis, organism-specific biosystem (from REACTOME)
    Mitotic Telophase/Cytokinesis, organism-specific biosystemIn this final phase of mitosis, new membranes are formed around two sets of chromatids and two daughter cells are formed. The chromosomes and the spindle fibers disperse, and the fiber ring around th...
  • Resolution of Sister Chromatid Cohesion, organism-specific biosystem (from REACTOME)
    Resolution of Sister Chromatid Cohesion, organism-specific biosystemThe resolution of sister chromatids in mitotic prometaphase involves removal of cohesin complexes from chromosomal arms, with preservation of cohesion at centromeres (Losada et al. 1998, Hauf et al. ...
  • S Phase, organism-specific biosystem (from REACTOME)
    S Phase, organism-specific biosystemDNA synthesis occurs in the S phase, or the synthesis phase, of the cell cycle. The cell duplicates its hereditary material, and two copies of the chromosome are formed. As DNA replication continues,...
  • Separation of Sister Chromatids, organism-specific biosystem (from REACTOME)
    Separation of Sister Chromatids, organism-specific biosystemWhile sister chromatids resolve in prometaphase, separating along chromosomal arms, the cohesion of sister centromeres persists until anaphase. At the anaphase onset, the anaphase promoting complex/c...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cell division IEA
Inferred from Electronic Annotation
more info
 
meiotic chromosome segregation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitotic cell cycle IEA
Inferred from Electronic Annotation
more info
 
negative regulation of DNA replication IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of chromatin binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of sister chromatid cohesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of fibroblast proliferation IEA
Inferred from Electronic Annotation
more info
 
protein localization to chromatin IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of chromosome condensation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of cohesin loading IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of cohesin loading IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to toxic substance IEA
Inferred from Electronic Annotation
more info
 
viral process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
chromatin IDA
Inferred from Direct Assay
more info
PubMed 
chromosome TAS
Traceable Author Statement
more info
 
chromosome, centromeric region TAS
Traceable Author Statement
more info
 
cohesin complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
synaptonemal complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

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_001318328.1NP_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)
    AB065003, AK290138, AL844892, BC036507, BC140858, BI438983
    UniProtKB/Swiss-Prot
    Q7Z5K2
    UniProtKB/TrEMBL
    A8K273, B2RTX8
    Conserved Domains (1) summary
    pfam07814
    Location:632992
    WAPL; Wings apart-like protein regulation of heterochromatin
  2. NM_015045.4NP_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)
    AB065003, AK290138, AL731569, AL844892, BC036507, BC140858, BI438983
    Consensus CDS
    CCDS7375.1
    UniProtKB/Swiss-Prot
    Q7Z5K2
    UniProtKB/TrEMBL
    A8K273, B2RTX8
    Related
    ENSP00000298767.4, ENST00000298767.10
    Conserved Domains (1) summary
    pfam07814
    Location:638998
    WAPL; Wings apart-like protein regulation of heterochromatin

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_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    86435256..86521816 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017015979.1XP_016871468.1  wings apart-like protein homolog isoform X2

    Conserved Domains (1) summary
    pfam07814
    Location:593953
    WAPL; Wings apart-like protein regulation of heterochromatin
  2. XM_011539548.1XP_011537850.1  wings apart-like protein homolog isoform X1

    Conserved Domains (1) summary
    pfam07814
    Location:6441004
    WAPL; Wings apart-like protein regulation of heterochromatin
  3. XM_017015980.1XP_016871469.1  wings apart-like protein homolog isoform X3

  4. XM_017015981.1XP_016871470.1  wings apart-like protein homolog isoform X4

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