• Gene id: 23063

Gene Summary

• Gene Symbol: WAPL   Gene   UCSC   Ensembl
• Aliases: FOE, KIAA0261, WAPAL
• Gene name: WAPL cohesin release factor
• Alternate names: wings apart-like protein homolog, friend of EBNA2 (Epstein-Barr virus nuclear protein 2), friend of EBNA2 protein,
• Gene location: 10q23.2 (86521815: 86435255)     Exons: 20     NC_000010.11
• OMIM: 610754

Protein Summary

• Protein general information: Q7Z5K2  
  • Name: Wings apart like protein homolog (Friend of EBNA2 protein) (WAPL cohesin release factor)
  • Length: 1190  
  • Mass: 132946
  • Tissue specificity: Isoform 1 is highly expressed in uterine cervix tumor. Isoform 2 is widely expressed with a high level in skeletal muscle and heart. {ECO
• Sequence:

  MTSRFGKTYSRKGGNGSSKFDEVFSNKRTTLSTKWGETTFMAKLGQKRPNFKPDIQEIPKKPKVEEESTGDPFGF
  DSDDESLPVSSKNLAQVKCSSYSESSEAAQLEEVTSVLEANSKISHVVVEDTVVSDKCFPLEDTLLGKEKSTNRI
  VEDDASISSCNKLITSDKVENFHEEHEKNSHHIHKNADDSTKKPNAETTVASEIKETNDTWNSQFGKRPESPSEI
  SPIKGSVRTGLFEWDNDFEDIRSEDCILSLDSDPLLEMKDDDFKNRLENLNEAIEEDIVQSVLRPTNCRTYCRAN
  KTKSSQGASNFDKLMDGTSQALAKANSESSKDGLNQAKKGGVSCGTSFRGTVGRTRDYTVLHPSCLSVCNVTIQD
  TMERSMDEFTASTPADLGEAGRLRKKADIATSKTTTRFRPSNTKSKKDVKLEFFGFEDHETGGDEGGSGSSNYKI
  KYFGFDDLSESEDDEDDDCQVERKTSKKRTKTAPSPSLQPPPESNDNSQDSQSGTNNAENLDFTEDLPGVPESVK
  KPINKQGDKSKENTRKIFSGPKRSPTKAVYNARHWNHPDSEELPGPPVVKPQSVTVRLSSKEPNQKDDGVFKAPA
  PPSKVIKTVTIPTQPYQDIVTALKCRREDKELYTVVQHVKHFNDVVEFGENQEFTDDIEYLLSGLKSTQPLNTRC
  LSVISLATKCAMPSFRMHLRAHGMVAMVFKTLDDSQHHQNLSLCTAALMYILSRDRLNMDLDRASLDLMIRLLEL
  EQDASSAKLLNEKDMNKIKEKIRRLCETVHNKHLDLENITTGHLAMETLLSLTSKRAGDWFKEELRLLGGLDHIV
  DKVKECVDHLSRDEDEEKLVASLWGAERCLRVLESVTVHNPENQSYLIAYKDSQLIVSSAKALQHCEELIQQYNR
  AEDSICLADSKPLPHQNVTNHVGKAVEDCMRAIIGVLLNLTNDNEWGSTKTGEQDGLIGTALNCVLQVPKYLPQE
  QRFDIRVLGLGLLINLVEYSARNRHCLVNMETSCSFDSSICSGEGDDSLRIGGQVHAVQALVQLFLERERAAQLA
  ESKTDELIKDAPTTQHDKSGEWQETSGEIQWVSTEKTDGTEEKHKKEEEDEELDLNKALQHAGKHMEDCIVASYT
  ALLLGCLCQESPINVTTVREYLPEGDFSIMTEMLKKFLSFMNLTCAVGTTGQKSISRVIEYLEHC

• Structural information:
  • Protein Domains: (626..116-)
    (/note="WAPL-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00603"-)
  • Interpro: IPR011989  IPR016024  IPR039874  IPR022771  IPR012502  
  • Prosite: PS51271
  • PDB: 4K6J 5HDT
  • PDBsum: 4K6J 5HDT
  • DIP: 31176
  • STRING: ENSP00000298767
• Other Databases: GeneCards:  WAPL  Malacards:  WAPL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0060623	regulation of chromosome condensation	IBA	biological process
GO:0071922	regulation of cohesin loading	IBA	biological process
GO:0045132	meiotic chromosome segregation	IBA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0000785	chromatin	IDA	cellular component
GO:0000785	chromatin	IDA	cellular component
GO:0071922	regulation of cohesin loading	IMP	biological process
GO:0008156	negative regulation of DNA replication	IMP	biological process
GO:0071168	protein localization to chromatin	IMP	biological process
GO:0045875	negative regulation of sister chromatid cohesion	IMP	biological process
GO:0045875	negative regulation of sister chromatid cohesion	IMP	biological process
GO:0045875	negative regulation of sister chromatid cohesion	IMP	biological process
GO:0035562	negative regulation of chromatin binding	IMP	biological process
GO:0035562	negative regulation of chromatin binding	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051301	cell division	IEA	biological process
GO:0016032	viral process	IEA	biological process
GO:0005694	chromosome	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0000775	chromosome, centromeric region	TAS	cellular component
GO:0000775	chromosome, centromeric region	TAS	cellular component
GO:0000775	chromosome, centromeric region	TAS	cellular component
GO:0000775	chromosome, centromeric region	TAS	cellular component
GO:0000775	chromosome, centromeric region	TAS	cellular component
GO:0000775	chromosome, centromeric region	TAS	cellular component
GO:0000775	chromosome, centromeric region	TAS	cellular component
GO:0005694	chromosome	TAS	cellular component
GO:0005694	chromosome	TAS	cellular component
GO:0005694	chromosome	TAS	cellular component
GO:0005694	chromosome	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0071922	regulation of cohesin loading	IEA	biological process
GO:0009636	response to toxic substance	IEA	biological process
GO:0000795	synaptonemal complex	IEA	cellular component
GO:0000278	mitotic cell cycle	IEA	biological process
GO:0060623	regulation of chromosome condensation	IEA	biological process
GO:0051983	regulation of chromosome segregation	IEA	biological process
GO:0048146	positive regulation of fibroblast proliferation	IEA	biological process
GO:0000785	chromatin	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq