1. Gene
  2. WWC1 - WW and C2 domain containing 1 Gene

WWC1 - WW and C2 domain containing 1 Gene

Homo sapiens

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

Gene ID: 23286 | Gene type: protein coding

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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference 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 Reference 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 Reference 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
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  • 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