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

Gene ID: 23286, updated on 4-Nov-2018

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; Vega:OTTHUMG00000130408
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 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (168292060..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 LOC105377709 Neighboring gene uncharacterized LOC101927862 Neighboring gene fibrillarin like 1 Neighboring gene arginyl-tRNA synthetase

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat'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 BioSystems

  • Endoderm Differentiation, organism-specific biosystem (from WikiPathways)
    Endoderm Differentiation, organism-specific biosystemModel depicting endoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...
  • Hippo signaling, organism-specific biosystem (from KEGG)
    Hippo signaling, organism-specific biosystemFunctional set; Cellular processes; Cell signaling
  • Hippo signaling, conserved biosystem (from KEGG)
    Hippo signaling, conserved biosystemFunctional set; Cellular processes; Cell signaling
  • Hippo signaling pathway, organism-specific biosystem (from KEGG)
    Hippo signaling pathway, organism-specific biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
  • Hippo signaling pathway, conserved biosystem (from KEGG)
    Hippo signaling pathway, conserved biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
  • Hippo signaling pathway -multiple species, organism-specific biosystem (from KEGG)
    Hippo signaling pathway -multiple species, organism-specific biosystemHippo signaling pathways control diverse aspects of cell proliferation, survival, and morphogenesis in eukaryotes. The core organization of these networks is conserved over a billion years of evoluti...
  • Hippo signaling pathway -multiple species, conserved biosystem (from KEGG)
    Hippo signaling pathway -multiple species, conserved biosystemHippo signaling pathways control diverse aspects of cell proliferation, survival, and morphogenesis in eukaryotes. The core organization of these networks is conserved over a billion years of evoluti...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Hippo, organism-specific biosystem (from REACTOME)
    Signaling by Hippo, organism-specific biosystemHuman Hippo signaling is a network of reactions that regulates cell proliferation and apoptosis, centered on a three-step kinase cascade. The cascade was discovered by analysis of Drosophila mutation...

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 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-containing complex scaffold activity IDA
Inferred from Direct Assay
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
    5001..185244
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001161661.1NP_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, AK296323, CA313640, DR001014
    Consensus CDS
    CCDS54945.1
    UniProtKB/Swiss-Prot
    Q8IX03
    Related
    ENSP00000427772.1, OTTHUMP00000222978, ENST00000521089.5, OTTHUMT00000371184
    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_001161662.1NP_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, 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_015238.2NP_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, AF506799, BC004394, CA313640, DR001014
    Consensus CDS
    CCDS4366.1
    UniProtKB/Swiss-Prot
    Q8IX03
    Related
    ENSP00000265293.4, OTTHUMP00000160959, ENST00000265293.8, OTTHUMT00000252791
    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 Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

    Range
    168292060..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, OTTHUMP00000222979, ENST00000393895.7, OTTHUMT00000371186
    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, OTTHUMP00000223030, ENST00000524228.5, OTTHUMT00000371338
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