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

    Gene ID: 23286, updated on 21-Jan-2020

    Summary

    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
    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

    Genomic context

    See WWC1 in Genome Data Viewer
    Location:
    5q34
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    109.20191205 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (168291645..168472303)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (167719065..167899308)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene teneurin transmembrane protein 2 Neighboring gene uncharacterized LOC101927862 Neighboring gene microRNA 12125 Neighboring gene arginyl-tRNA synthetase 1 Neighboring gene fibrillarin like 1

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

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

    NHGRI GWAS Catalog

    Description
    Genome-wide association study of periodontal pathogen colonization.
    NHGRI GWA Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ10865, FLJ23369, KIAA0869

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    molecular adaptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transcription coactivator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein-containing complex IEA
    Inferred from Electronic Annotation
    more info
     
    ruffle membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    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)

    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_001161661.2NP_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/Swiss-Prot
      Q8IX03
      Related
      ENSP00000427772.1, ENST00000521089.5
      Conserved Domains (4) summary
      cd08680
      Location:660783
      C2_Kibra; C2 domain found in Human protein Kibra
      cd00201
      Location:939
      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:5584
      WW; WW domain
      cl11961
      Location:368420
      ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily
    2. NM_001161662.2NP_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/Swiss-Prot
      Q8IX03
      Conserved Domains (4) summary
      cd08680
      Location:660783
      C2_Kibra; C2 domain found in Human protein Kibra
      cd00201
      Location:939
      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:5584
      WW; WW domain
      cl11961
      Location:368420
      ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily
    3. NM_015238.3NP_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
      Q8IX03
      Related
      ENSP00000265293.4, ENST00000265293.8
      Conserved Domains (4) summary
      cd08680
      Location:660783
      C2_Kibra; C2 domain found in Human protein Kibra
      cd00201
      Location:939
      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:5584
      WW; WW domain
      cl11961
      Location:368420
      ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

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

    mRNA and Protein(s)

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

      Conserved Domains (4) summary
      cd08680
      Location:721844
      C2_Kibra; C2 domain found in Human protein Kibra
      cd00201
      Location:939
      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:5584
      WW; WW domain
      cl11961
      Location:429481
      ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily
    2. XM_011534486.1XP_011532788.1  protein KIBRA isoform X2

      Conserved Domains (4) summary
      cd08680
      Location:721844
      C2_Kibra; C2 domain found in Human protein Kibra
      cd00201
      Location:939
      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:5584
      WW; WW domain
      cl11961
      Location:429481
      ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily
    3. XM_011534488.1XP_011532790.1  protein KIBRA isoform X5

      Conserved Domains (4) summary
      cd08680
      Location:721844
      C2_Kibra; C2 domain found in Human protein Kibra
      cd00201
      Location:939
      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:5584
      WW; WW domain
      cl11961
      Location:429481
      ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily
    4. XM_011534490.1XP_011532792.1  protein KIBRA isoform X6

      Conserved Domains (4) summary
      cd08680
      Location:721844
      C2_Kibra; C2 domain found in Human protein Kibra
      cd00201
      Location:939
      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:5584
      WW; WW domain
      cl11961
      Location:429481
      ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily
    5. XM_011534487.1XP_011532789.1  protein KIBRA isoform X3

      Conserved Domains (4) summary
      cd08680
      Location:721844
      C2_Kibra; C2 domain found in Human protein Kibra
      cd00201
      Location:939
      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:5584
      WW; WW domain
      cl11961
      Location:429481
      ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily
    6. XM_011534489.1XP_011532791.1  protein KIBRA isoform X4

      Conserved Domains (4) summary
      cd08680
      Location:721844
      C2_Kibra; C2 domain found in Human protein Kibra
      cd00201
      Location:939
      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:5584
      WW; WW domain
      cl11961
      Location:429481
      ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily
    7. XM_011534491.1XP_011532793.1  protein KIBRA isoform X7

      Conserved Domains (4) summary
      cd08680
      Location:721844
      C2_Kibra; C2 domain found in Human protein Kibra
      cd00201
      Location:939
      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:5584
      WW; WW domain
      cl11961
      Location:429481
      ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily
    8. XM_017009276.1XP_016864765.1  protein KIBRA isoform X8

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

      Conserved Domains (4) summary
      cd08680
      Location:660783
      C2_Kibra; C2 domain found in Human protein Kibra
      cd00201
      Location:939
      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:5584
      WW; WW domain
      cl11961
      Location:368420
      ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily
    10. XM_005265853.2XP_005265910.1  protein KIBRA isoform X10

      Related
      ENSP00000377473.3, ENST00000393895.7
      Conserved Domains (4) summary
      cd08680
      Location:660783
      C2_Kibra; C2 domain found in Human protein Kibra
      cd00201
      Location:939
      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:5584
      WW; WW domain
      cl11961
      Location:368420
      ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily
    11. XM_017009278.1XP_016864767.1  protein KIBRA isoform X11

      Related
      ENSP00000429339.1, ENST00000524228.5
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