• Gene id: 51322

Gene Summary

• Gene Symbol: WAC   Gene   UCSC   Ensembl
• Aliases: BM-016, DESSH, PRO1741, Wwp4
• Gene name: WW domain containing adaptor with coiled-coil
• Alternate names: WW domain-containing adapter protein with coiled-coil,
• Gene location: 10p12.1-p11.2 (28532771: 28623111)     Exons: 16     NC_000010.11
• Gene summary(Entrez): The protein encoded by this gene contains a WW domain, which is a protein module found in a wide range of signaling proteins. This domain mediates protein-protein interactions and binds proteins containing short linear peptide motifs that are proline-rich
• OMIM: 615049

Protein Summary

• Protein general information: Q9BTA9  
  • Name: WW domain containing adapter protein with coiled coil
  • Length: 647  
  • Mass: 70724
• Sequence:

  MVMYARKQQRLSDGCHDRRGDSQPYQALKYSSKSHPSSGDHRHEKMRDAGDPSPPNKMLRRSDSPENKYSDSTGH
  SKAKNVHTHRVRERDGGTSYSPQENSHNHSALHSSNSHSSNPSNNPSKTSDAPYDSADDWSEHISSSGKKYYYNC
  RTEVSQWEKPKEWLEREQRQKEANKMAVNSFPKDRDYRREVMQATATSGFASGMEDKHSSDASSLLPQNILSQTS
  RHNDRDYRLPRAETHSSSTPVQHPIKPVVHPTATPSTVPSSPFTLQSDHQPKKSFDANGASTLSKLPTPTSSVPA
  QKTERKESTSGDKPVSHSCTTPSTSSASGLNPTSAPPTSASAVPVSPVPQSPIPPLLQDPNLLRQLLPALQATLQ
  LNNSNVDISKINEVLTAAVTQASLQSIIHKFLTAGPSAFNITSLISQAAQLSTQAQPSNQSPMSLTSDASSPRSY
  VSPRISTPQTNTVPIKPLISTPPVSSQPKVSTPVVKQGPVSQSATQQPVTADKQQGHEPVSPRSLQRSSSQRSPS
  PGPNHTSNSSNASNATVVPQNSSARSTCSLTPALAAHFSENLIKHVQGWPADHAEKQASRLREEAHNMGTIHMSE
  ICTELKNLRSLVRVCEIQATLREQRILFLRQQIKELEKLKNQNSFMV

• Structural information:
  • Protein Domains: (129..16-)
    (/note="WW-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00224"-)
  • Interpro: IPR038867  IPR001202  IPR036020  
  • Prosite: PS01159 PS50020
  • CDD: cd00201
  • STRING: ENSP00000346986
• Other Databases: GeneCards:  WAC  Malacards:  WAC

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003682	chromatin binding	IDA	molecular function
GO:0000993	RNA polymerase II complex binding	IDA	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IMP	biological process
GO:0071894	histone H2B conserved C-terminal lysine ubiquitination	IMP	biological process
GO:0010390	histone monoubiquitination	IMP	biological process
GO:0006974	cellular response to DNA damage stimulus	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:0006325	chromatin organization	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0016567	protein ubiquitination	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	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:0005681	spliceosomal complex	IEA	cellular component
GO:0016239	positive regulation of macroautophagy	IMP	biological process
GO:0032435	negative regulation of proteasomal ubiquitin-dependent protein catabolic process	IMP	biological process
GO:0005634	nucleus	TAS	cellular component
GO:0016607	nuclear speck	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0044783	G1 DNA damage checkpoint	IMP	biological process

Diseases

Associated diseases	References
DeSanto-Shinawi syndrome	KEGG:H02103
DeSanto-Shinawi syndrome	KEGG:H02103
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq