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WWC1 WW and C2 domain containing 1 [ Homo sapiens (human) ]

Gene ID: 23286, updated on 7-Apr-2024

Summary

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Official Symbol
WWC1provided by HGNC
Official Full Name
WW and C2 domain containing 1provided by HGNC
Primary source
HGNC:HGNC:29435
See related
Ensembl:ENSG00000113645 MIM:610533; AllianceGenome:HGNC:29435
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
KIBRA; HBEBP3; HBEBP36; MEMRYQTL; PPP1R168
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]
Expression
Broad expression in salivary gland (RPKM 17.1), kidney (RPKM 16.5) and 17 other tissues See more
Orthologs
mouse all
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Genomic context

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See WWC1 in Genome Data Viewer
Location:
5q34
Exon count:
26
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (168291645..168472303)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (168826515..169007094)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (167718650..167899308)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene teneurin transmembrane protein 2 Neighboring gene uncharacterized LOC124901128 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23586 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23587 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23588 Neighboring gene TENM2 antisense RNA 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16594 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16595 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:167741294-167741817 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23589 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:167754608-167755524 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:167755525-167756441 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16597 Neighboring gene uncharacterized LOC124901129 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:167792124-167792657 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:167836336-167837535 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_83602 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23590 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_83610 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_83640 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_83662 Neighboring gene Sharpr-MPRA regulatory region 5384 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:167956617-167957158 Neighboring gene arginyl-tRNA synthetase 1 Neighboring gene fibrillarin like 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. KIBRA Gene Variant Is Associated with Ability in Chess and Science. Ahmetov II, et al. Genes (Basel), 2023 Jan 13. PMID 36672945, Free PMC Article
  2. Associations of WWC1 variants with Alzheimer's disease and vascular dementia among rural older adults in China: A population-based study. Wang C, et al. Neurobiol Aging, 2023 May. PMID 36669907
  3. Thalamic gray matter volume mediates the association between KIBRA polymorphism and olfactory function among older adults: a population-based study. Song L, et al. Cereb Cortex, 2023 Mar 21. PMID 35972417, Free PMC Article
  4. Pathological Significance and Prognostic Role of WWC1 in Upper Urinary Tract Urothelial Cancer. Kurata H, et al. Anticancer Res, 2022 May. PMID 35489728
  5. Low KIBRA Expression Is Associated with Poor Prognosis in Patients with Triple-Negative Breast Cancer. Kim SW, et al. Medicina (Kaunas), 2021 Aug 18. PMID 34441043, Free PMC Article

See all (138) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. KIBRA single nucleotide polymorphism is associated with hippocampal subfield volumes and cognition across development.
    Title: KIBRA single nucleotide polymorphism is associated with hippocampal subfield volumes and cognition across development.
  2. KIBRA upregulation increases susceptibility to podocyte injury and glomerular disease progression.
    Title: KIBRA upregulation increases susceptibility to podocyte injury and glomerular disease progression.
  3. Thalamic gray matter volume mediates the association between KIBRA polymorphism and olfactory function among older adults: a population-based study.
    Title: Thalamic gray matter volume mediates the association between KIBRA polymorphism and olfactory function among older adults: a population-based study.
  4. Associations of WWC1 variants with Alzheimer's disease and vascular dementia among rural older adults in China: A population-based study.
    Title: Associations of WWC1 variants with Alzheimer's disease and vascular dementia among rural older adults in China: A population-based study.
  5. KIBRA Gene Variant Is Associated with Ability in Chess and Science.
    Title: KIBRA Gene Variant Is Associated with Ability in Chess and Science.
  6. BDNF and KIBRA Polymorphisms Are Related to Altered Resting State Network Connectivity in Middle Age.
    Title: BDNF and KIBRA Polymorphisms Are Related to Altered Resting State Network Connectivity in Middle Age.
  7. Pathological Significance and Prognostic Role of WWC1 in Upper Urinary Tract Urothelial Cancer.
    Title: Pathological Significance and Prognostic Role of WWC1 in Upper Urinary Tract Urothelial Cancer.
  8. KIBRA connects Hippo signaling and cancer.
    Title: KIBRA connects Hippo signaling and cancer.
  9. Low KIBRA Expression Is Associated with Poor Prognosis in Patients with Triple-Negative Breast Cancer.
    Title: Low KIBRA Expression Is Associated with Poor Prognosis in Patients with Triple-Negative Breast Cancer.
  10. Interaction of COMT and KIBRA modulates the association between hippocampal structure and episodic memory performance in healthy young adults.
    Title: Interaction of COMT and KIBRA modulates the association between hippocampal structure and episodic memory performance in healthy young adults.
Submit: New GeneRIF Correction See all GeneRIFs (97)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Memory quantitative trait locus
MedGen: C3810089 OMIM: 615602 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Genome-wide association study of periodontal pathogen colonization.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ10865, FLJ23369, KIAA0869

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables kinase binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables kinase binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables molecular adaptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables molecular adaptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transcription coactivator activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in cell migration IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cell migration IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in establishment of cell polarity TAS
Traceable Author Statement
more info
 PubMed 
involved_in negative regulation of cell population proliferation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of hippo signaling IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of organ growth IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of organ growth IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of MAPK cascade IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of DNA-templated transcription IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of hippo signaling IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of hippo signaling IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of intracellular transport TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
part_of protein-containing complex IEA
Inferred from Electronic Annotation
more info
  
located_in ruffle membrane IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
protein KIBRA
Names
HBeAg-binding protein 3
WW, C2 and coiled-coil domain containing 1
kidney and brain protein
protein WWC1
protein phosphatase 1, regulatory subunit 168

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016712.1 RefSeqGene

    Range
    4586..185244
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001161661.2 → NP_001155133.1  protein KIBRA isoform 1

    See identical proteins and their annotated locations for NP_001155133.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC020894, AC026689, AK296323, CA313640, DR001014
    Consensus CDS
    CCDS54945.1
    UniProtKB/TrEMBL
    H3BLZ3
    Related
    ENSP00000427772.1, ENST00000521089.5
    Conserved Domains (4) summary
    cd08680
    Location:660 → 783
    C2_Kibra; C2 domain found in Human protein Kibra
    cd00201
    Location:9 → 39
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    pfam00397
    Location:55 → 84
    WW; WW domain
    cl11961
    Location:368 → 420
    ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily

  2. NM_001161662.2 → NP_001155134.1  protein KIBRA isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. This results in a shorter protein (isoform 2) compared to isoform 1.
    Source sequence(s)
    AC020894, AC026689, AK296323, BX640827, CA313640, DR001014
    UniProtKB/TrEMBL
    H3BLZ3
    Related
    ENSP00000377473.3, ENST00000393895.7
    Conserved Domains (4) summary
    cd08680
    Location:660 → 783
    C2_Kibra; C2 domain found in Human protein Kibra
    cd00201
    Location:9 → 39
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    pfam00397
    Location:55 → 84
    WW; WW domain
    cl11961
    Location:368 → 420
    ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily

  3. NM_015238.3 → NP_056053.1  protein KIBRA isoform 3

    See identical proteins and their annotated locations for NP_056053.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. This results in a shorter protein (isoform 3) compared to isoform 1.
    Source sequence(s)
    AC020894, AC026689, AF506799, BC004394, CA313640, DR001014
    Consensus CDS
    CCDS4366.1
    UniProtKB/Swiss-Prot
    B4DK05, O94946, Q6MZX4, Q6Y2F8, Q7Z4G8, Q8IX03, Q8WVM4, Q9BT29
    UniProtKB/TrEMBL
    H3BLZ3
    Related
    ENSP00000265293.4, ENST00000265293.9
    Conserved Domains (4) summary
    cd08680
    Location:660 → 783
    C2_Kibra; C2 domain found in Human protein Kibra
    cd00201
    Location:9 → 39
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    pfam00397
    Location:55 → 84
    WW; WW domain
    cl11961
    Location:368 → 420
    ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    168291645..168472303
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011534485.2 → XP_011532787.1  protein KIBRA isoform X1

    UniProtKB/TrEMBL
    H3BLZ3
    Conserved Domains (4) summary
    cd08680
    Location:721 → 844
    C2_Kibra; C2 domain found in Human protein Kibra
    cd00201
    Location:9 → 39
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    pfam00397
    Location:55 → 84
    WW; WW domain
    cl11961
    Location:429 → 481
    ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily

  2. XM_011534486.2 → XP_011532788.1  protein KIBRA isoform X2

    UniProtKB/TrEMBL
    H3BLZ3
    Conserved Domains (4) summary
    cd08680
    Location:721 → 844
    C2_Kibra; C2 domain found in Human protein Kibra
    cd00201
    Location:9 → 39
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    pfam00397
    Location:55 → 84
    WW; WW domain
    cl11961
    Location:429 → 481
    ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily

  3. XM_011534488.2 → XP_011532790.1  protein KIBRA isoform X5

    UniProtKB/TrEMBL
    H3BLZ3
    Conserved Domains (4) summary
    cd08680
    Location:721 → 844
    C2_Kibra; C2 domain found in Human protein Kibra
    cd00201
    Location:9 → 39
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    pfam00397
    Location:55 → 84
    WW; WW domain
    cl11961
    Location:429 → 481
    ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily

  4. XM_011534490.2 → XP_011532792.1  protein KIBRA isoform X6

    UniProtKB/TrEMBL
    H3BLZ3
    Conserved Domains (4) summary
    cd08680
    Location:721 → 844
    C2_Kibra; C2 domain found in Human protein Kibra
    cd00201
    Location:9 → 39
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    pfam00397
    Location:55 → 84
    WW; WW domain
    cl11961
    Location:429 → 481
    ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily

  5. XM_011534487.2 → XP_011532789.1  protein KIBRA isoform X3

    UniProtKB/TrEMBL
    H3BLZ3
    Conserved Domains (4) summary
    cd08680
    Location:721 → 844
    C2_Kibra; C2 domain found in Human protein Kibra
    cd00201
    Location:9 → 39
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    pfam00397
    Location:55 → 84
    WW; WW domain
    cl11961
    Location:429 → 481
    ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily

  6. XM_011534489.2 → XP_011532791.1  protein KIBRA isoform X4

    UniProtKB/TrEMBL
    H3BLZ3
    Conserved Domains (4) summary
    cd08680
    Location:721 → 844
    C2_Kibra; C2 domain found in Human protein Kibra
    cd00201
    Location:9 → 39
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    pfam00397
    Location:55 → 84
    WW; WW domain
    cl11961
    Location:429 → 481
    ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily

  7. XM_011534491.2 → XP_011532793.1  protein KIBRA isoform X7

    UniProtKB/TrEMBL
    H3BLZ3
    Conserved Domains (4) summary
    cd08680
    Location:721 → 844
    C2_Kibra; C2 domain found in Human protein Kibra
    cd00201
    Location:9 → 39
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    pfam00397
    Location:55 → 84
    WW; WW domain
    cl11961
    Location:429 → 481
    ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily

  8. XM_017009276.2 → XP_016864765.1  protein KIBRA isoform X8

    UniProtKB/TrEMBL
    H3BLZ3

  9. XM_005265850.2 → XP_005265907.1  protein KIBRA isoform X9

    UniProtKB/TrEMBL
    H3BLZ3
    Conserved Domains (4) summary
    cd08680
    Location:660 → 783
    C2_Kibra; C2 domain found in Human protein Kibra
    cd00201
    Location:9 → 39
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    pfam00397
    Location:55 → 84
    WW; WW domain
    cl11961
    Location:368 → 420
    ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily

  10. XM_047417017.1 → XP_047272973.1  protein KIBRA isoform X10

  11. XM_047417018.1 → XP_047272974.1  protein KIBRA isoform X11

  12. XM_005265853.3 → XP_005265910.1  protein KIBRA isoform X12

    UniProtKB/TrEMBL
    H3BLZ3
    Conserved Domains (4) summary
    cd08680
    Location:660 → 783
    C2_Kibra; C2 domain found in Human protein Kibra
    cd00201
    Location:9 → 39
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    pfam00397
    Location:55 → 84
    WW; WW domain
    cl11961
    Location:368 → 420
    ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily

  13. XM_047417021.1 → XP_047272977.1  protein KIBRA isoform X13

  14. XM_047417019.1 → XP_047272975.1  protein KIBRA isoform X13

  15. XM_047417020.1 → XP_047272976.1  protein KIBRA isoform X13

    Related
    ENSP00000429339.1, ENST00000524228.5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    168826515..169007094
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054352201.1 → XP_054208176.1  protein KIBRA isoform X1

  2. XM_054352202.1 → XP_054208177.1  protein KIBRA isoform X2

  3. XM_054352205.1 → XP_054208180.1  protein KIBRA isoform X5

  4. XM_054352206.1 → XP_054208181.1  protein KIBRA isoform X6

  5. XM_054352203.1 → XP_054208178.1  protein KIBRA isoform X3

  6. XM_054352204.1 → XP_054208179.1  protein KIBRA isoform X4

  7. XM_054352207.1 → XP_054208182.1  protein KIBRA isoform X7

  8. XM_054352208.1 → XP_054208183.1  protein KIBRA isoform X8

  9. XM_054352209.1 → XP_054208184.1  protein KIBRA isoform X9

  10. XM_054352210.1 → XP_054208185.1  protein KIBRA isoform X10

  11. XM_054352211.1 → XP_054208186.1  protein KIBRA isoform X11

  12. XM_054352212.1 → XP_054208187.1  protein KIBRA isoform X12

  13. XM_054352215.1 → XP_054208190.1  protein KIBRA isoform X13

  14. XM_054352213.1 → XP_054208188.1  protein KIBRA isoform X13

  15. XM_054352214.1 → XP_054208189.1  protein KIBRA isoform X13

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8IX03.1 GenPept UniProtKB/Swiss-Prot:Q8IX03

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