• Gene id: 23286

Gene Summary

• Gene Symbol: WWC1   Gene   UCSC   Ensembl
• Aliases: HBEBP3, HBEBP36, KIBRA, MEMRYQTL, PPP1R168
• Gene name: WW and C2 domain containing 1
• Alternate names: protein KIBRA, HBeAg-binding protein 3, WW, C2 and coiled-coil domain containing 1, kidney and brain protein, protein WWC1, protein phosphatase 1, regulatory subunit 168,
• Gene location: 5q34 (168291644: 168472302)     Exons: 26     NC_000005.10
• Gene summary(Entrez): The protein encoded by this gene is a cytoplasmic phosphoprotein that interacts with PRKC-zeta and dynein light chain-1. Alleles of this gene have been found that enhance memory in some individuals. Three transcript variants encoding different isoforms ha
• OMIM: 610533

Protein Summary

• Protein general information: Q8IX03  
  • Name: Protein KIBRA (HBeAg binding protein 3) (Kidney and brain protein) (KIBRA) (WW domain containing protein 1)
  • Length: 1113  
  • Mass: 125301
  • Tissue specificity: Expressed in mammary epithelial cells and breast cancer cell lines. Found in the luminal epithelium surrounding the ducts in the normal breast. In the brain, expressed in somatodendritic compartment of neurons in the cortex and hippoca
• Sequence:

  MPRPELPLPEGWEEARDFDGKVYYIDHTNRTTSWIDPRDRYTKPLTFADCISDELPLGWEEAYDPQVGDYFIDHN
  TKTTQIEDPRVQWRREQEHMLKDYLVVAQEALSAQKEIYQVKQQRLELAQQEYQQLHAVWEHKLGSQVSLVSGSS
  SSSKYDPEILKAEIATAKSRVNKLKREMVHLQHELQFKERGFQTLKKIDKKMSDAQGSYKLDEAQAVLRETKAIK
  KAITCGEKEKQDLIKSLAMLKDGFRTDRGSHSDLWSSSSSLESSSFPLPKQYLDVSSQTDISGSFGINSNNQLAE
  KVRLRLRYEEAKRRIANLKIQLAKLDSEAWPGVLDSERDRLILINEKEELLKEMRFISPRKWTQGEVEQLEMARK
  RLEKDLQAARDTQSKALTERLKLNSKRNQLVRELEEATRQVATLHSQLKSLSSSMQSLSSGSSPGSLTSSRGSLV
  ASSLDSSTSASFTDLYYDPFEQLDSELQSKVEFLLLEGATGFRPSGCITTIHEDEVAKTQKAEGGGRLQALRSLS
  GTPKSMTSLSPRSSLSSPSPPCSPLMADPLLAGDAFLNSLEFEDPELSATLCELSLGNSAQERYRLEEPGTEGKQ
  LGQAVNTAQGCGLKVACVSAAVSDESVAGDSGVYEASVQRLGASEAAAFDSDESEAVGATRIQIALKYDEKNKQF
  AILIIQLSNLSALLQQQDQKVNIRVAVLPCSESTTCLFRTRPLDASDTLVFNEVFWVSMSYPALHQKTLRVDVCT
  TDRSHLEECLGGAQISLAEVCRSGERSTRWYNLLSYKYLKKQSRELKPVGVMAPASGPASTDAVSALLEQTAVEL
  EKRQEGRSSTQTLEDSWRYEETSENEAVAEEEEEEVEEEEGEEDVFTEKASPDMDGYPALKVDKETNTETPAPSP
  TVVRPKDRRVGTPSQGPFLRGSTIIRSKTFSPGPQSQYVCRLNRSDSDSSTLSKKPPFVRNSLERRSVRMKRPSS
  VKSLRSERLIRTSLDLELDLQATRTWHSQLTQEISVLKELKEQLEQAKSHGEKELPQWLREDERFRLLLRMLEKR
  QMDRAEHKGELQTDKMMRAAAKDVHRLRGQSCKEPPEVQSFREKMAFFTRPRMNIPALSADDV

• Structural information:
  • Protein Domains: (6..3-)
    (/note="WW-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00224-)
    (53..8-)
    (/note="WW-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00224-)
    (658..78-)
    (/note="C2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041"-)
  • Interpro: IPR035892  IPR037771  IPR001202  IPR036020  
  • Prosite: PS50004 PS01159 PS50020
  • CDD: cd08680 cd00201
  • PDB: 2Z0U 6FB4 6FD0 6FJC 6FJD
  • PDBsum: 2Z0U 6FB4 6FD0 6FJC 6FJD
  • DIP: 35287
  • STRING: ENSP00000427772
• Other Databases: GeneCards:  WWC1  Malacards:  WWC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0032587	ruffle membrane	IDA	cellular component
GO:0016477	cell migration	IDA	biological process
GO:0043410	positive regulation of MAPK cascade	IDA	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:0003713	transcription coactivator activity	IDA	molecular function
GO:0035330	regulation of hippo signaling	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0007221	positive regulation of transcription of Notch receptor target	TAS	biological process
GO:0035329	hippo signaling	TAS	biological process
GO:0032991	protein-containing complex	IEA	cellular component
GO:0016477	cell migration	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0060090	molecular adaptor activity	IDA	molecular function
GO:0019900	kinase binding	IPI	molecular function
GO:0019900	kinase binding	IPI	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0035331	negative regulation of hippo signaling	IDA	biological process
GO:0030010	establishment of cell polarity	TAS	biological process
GO:0032386	regulation of intracellular transport	TAS	biological process
GO:0046621	negative regulation of organ growth	IMP	biological process
GO:0032587	ruffle membrane	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04390	Hippo signaling pathway
hsa04392	Hippo signaling pathway - multiple species

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
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			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R