WWC1 - WW and C2 domain containing 1 Gene

Also Known as KIBRA; HBEBP3; HBEBP36; MEMRYQTL; PPP1R168

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23286

About WWC1

Cytogenetic location: 5q34 Genomic coordinates (GRCh38): 5:168,291,645-168,472,303 (from NCBI)

This gene has 16 transcripts (splice variants), 218 orthologues, 2 paralogues and is associated with 1 phenotype. Broad expression in salivary gland (RPKM 17.1), kidney (RPKM 16.5) and 17 other tissues.

Summary

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 have been found for this gene. [provided by RefSeq, Mar 2010]

WWC1 Products (3)

mRNA Protein Name
NM_001161661.2 NP_001155133.1 protein KIBRA isoform 1
NM_001161662.2 NP_001155134.1 protein KIBRA isoform 2
NM_015238.3 NP_056053.1 protein KIBRA isoform 3
Molecular Function GO Annotation Evidence References Source
enables kinase binding IPI
IPI: Inferred from physical interaction
24682284 GOA
enables molecular adaptor activity IDA
IDA: Inferred from direct assay
24682284 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
16684779 GOA
enables signaling adaptor activity IDA
IDA: Inferred from direct assay
35429439 GOA
enables transcription coactivator activity IDA
IDA: Inferred from direct assay
16684779 GOA
Biological Process GO Annotation Evidence References Source
involved in cell migration IDA
IDA: Inferred from direct assay
18596123 GOA
involved in hippo signaling IDA
IDA: Inferred from direct assay
35429439 GOA
involved in negative regulation of cell population proliferation IMP
IMP: Inferred from mutant phenotype
24682284 GOA
involved in negative regulation of hippo signaling IDA
IDA: Inferred from direct assay
24682284 GOA
involved in negative regulation of organ growth IMP
IMP: Inferred from mutant phenotype
24682284 GOA
involved in negative regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
24682284 GOA
involved in positive regulation of MAPK cascade IDA
IDA: Inferred from direct assay
18190796 GOA
involved in regulation of hippo signaling IMP
IMP: Inferred from mutant phenotype
20159598 GOA
Cellular Component GO Annotation Evidence References Source
is active in cytoplasm IDA
IDA: Inferred from direct assay
35429439 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
16684779 GOA
located in cytosol IDA
IDA: Inferred from direct assay
24682284 GOA
located in nucleus IDA
IDA: Inferred from direct assay
16684779 GOA
located in perinuclear region of cytoplasm IDA
IDA: Inferred from direct assay
18596123 GOA
located in ruffle membrane IDA
IDA: Inferred from direct assay
18190796 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

WWC1 Protein Structure

WW

WW: WW domain (8 - 37)

WW

WW: WW domain (55 - 84)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1113 a.a.
Protein Preferred Names Protein Names

protein KIBRA

  • HBeAg-binding protein 3

Related Diseases

Diseases Alias
Memory Quantitative Trait Locus
  • MEMRYQTL

  • Memory, Enhanced, Qtl

Neurofibromatosis, Type Ii
  • Neurofibromatosis 2

  • Neurofibromatosis, Type 2

  • NF2

  • Neurofibromatosis Type Ii

  • Bilateral Acoustic Neurofibromatosis

  • Banf

  • Acn

  • Central Neurofibromatosis

  • Neurofibromatosis, Central Type

  • Acoustic Schwannomas, Bilateral

  • Acoustic Neurinoma, Bilateral

  • Bilateral Acoustic Neurinoma

  • Bilateral Acoustic Schwannomas

  • Familial Acoustic Neuromas

Bjornstad Syndrome
  • BJS

  • Pili Torti And Nerve Deafness

  • Ptd

  • Pili Torti-Deafness Syndrome

  • Deafness-Pili Torti-Hypogonadism Syndrome

  • Deafness And Pili Torti, Bjornstad Type

  • Pili Torti-Sensorineural Hearing Loss

  • Björnstad Syndrome

  • Ptnd

  • Hearing Loss-Pili Torti-Hypogonadism Syndrome

  • Bjoernstad Syndrome

Sveinsson Chorioretinal Atrophy
  • SCRA

  • Atrophia Areata

  • Helicoid Peripapillary Chorioretinal Degeneration

  • Hpcd

  • Aa

  • Peripapillary Chorioretinal Degeneration, Icelandic Type

  • Helicoidal Peripapillary Chorioretinal Degeneration

  • Atrophy, Chorioretinal, Sveinsson

Breast Cancer
  • Breast Carcinoma

  • Male Breast Cancer

  • Breast Cancer, Familial

  • Malignant Neoplasm Of Breast

  • Breast Cancer, Susceptibility To

  • Breast Cancer, Early-Onset

  • Malignant Tumor Of Breast

  • Carcinoma Of Male Breast

  • Breast Cancer, Invasive Ductal

  • Breast Cancer, Protection Against

  • Breast Cancer, Somatic

  • Breast Cancer, Male

  • Breast Cancer, Lobular, Somatic

  • Breast Tumor

  • Mammary Cancer

  • Mammary Tumor

  • Malignant Neoplasm Of Male Breast

  • Mammary Carcinoma

  • Male Breast Carcinoma

  • Familial Cancer Of Breast

  • Invasive Ductal Breast Carcinoma

  • Breast Cancer Susceptibility

  • Breast Cancer, Male, Susceptibility To

  • Breast Cancer, Early-Onset, Susceptibility To

  • Malignant Tumor Of The Breast

  • Mammary Neoplasm

  • Primary Breast Cancer

  • Neoplasm Of Male Breast

  • Carcinoma Of Breast

  • Breast Cancer In Men

  • Familial Breast Cancer

  • Cancer Of Breast

  • BC

  • Breast Cancer Familial

  • Breast Cancer Familial Male

  • Breast Cancer, Familial Male

  • Breast Male Carcinoma

  • Breast Neoplasms

  • Breast Neoplasms, Male

  • Mammary Tumors

  • Mammary Carcinomas

  • Cancer, Breast

  • Cancer, Breast, Susceptibility

  • Invasive Breast Ductal Carcinoma

  • Breast Neoplasm

  • Susceptibility To Breast Cancer

  • Mammary Neoplasms

  • Animal Mammary Neoplasms

  • Primary Malignant Neoplasm Of Breast

  • Infiltrating Ductal Carcinoma Of Breast

  • Infiltrating Duct Carcinoma Of Unspecified Site

  • Infiltrating Ductular Carcinoma Of Unspecified Site

  • Invasive Breast Carcinoma Of No Special Type

  • Microinvasive Carcinoma Of Breast

  • Carcinoma With Apocrine Differentiation

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris WWC1 VGNC VGNC:48439
Felis catus WWC1 VGNC VGNC:67096
Bos taurus WWC1 VGNC VGNC:36974
Macaca mulatta WWC1 VGNC VGNC:79809
Rattus norvegicus WWC1 RGD RGD:1308329
Mus musculus WWC1 MGD MGI:2388637
Others WWC1 NCBI