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

Gene ID: 23286, updated on 10-Dec-2024

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; 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
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Genomic context

See WWC1 in Genome Data Viewer
Location:
5q34
Exon count:
26
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (168291645..168472303)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (168826515..169007094)
RS_2024_09 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

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 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

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

General gene information

Clone Names

  • FLJ10865, FLJ23369, KIAA0869

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables kinase binding  
enables kinase binding PubMed 
enables molecular adaptor activity  
enables molecular adaptor activity PubMed 
enables protein binding PubMed 
enables signaling adaptor activity PubMed 
enables transcription coactivator activity PubMed 
Process Evidence Code Pubs
involved_in cell migration  
involved_in cell migration PubMed 
involved_in establishment of cell polarity PubMed 
involved_in hippo signaling PubMed 
involved_in negative regulation of cell population proliferation PubMed 
involved_in negative regulation of hippo signaling PubMed 
involved_in negative regulation of organ growth  
involved_in negative regulation of organ growth PubMed 
involved_in negative regulation of transcription by RNA polymerase II PubMed 
involved_in positive regulation of DNA-templated transcription  
involved_in positive regulation of MAPK cascade PubMed 
involved_in regulation of DNA-templated transcription  
involved_in regulation of hippo signaling  
involved_in regulation of hippo signaling PubMed 
involved_in regulation of intracellular transport PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm  
is_active_in cytoplasm PubMed 
located_in cytoplasm PubMed 
located_in cytosol PubMed 
located_in cytosol  
located_in nucleus PubMed 
located_in perinuclear region of cytoplasm PubMed 
located_in postsynaptic density, intracellular component  
part_of protein-containing complex  
located_in ruffle membrane 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)

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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_001161661.2NP_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/TrEMBL
    H3BLZ3
    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/TrEMBL
    H3BLZ3
    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
  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
    B4DK05, O94946, Q6MZX4, Q6Y2F8, Q7Z4G8, Q8IX03, Q8WVM4, Q9BT29
    UniProtKB/TrEMBL
    H3BLZ3
    Related
    ENSP00000265293.4, ENST00000265293.9
    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: GCF_000001405.40-RS_2024_08

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_011534485.2XP_011532787.1  protein KIBRA isoform X1

    UniProtKB/TrEMBL
    H3BLZ3
    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_011534486.2XP_011532788.1  protein KIBRA isoform X2

    UniProtKB/TrEMBL
    H3BLZ3
    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_011534488.2XP_011532790.1  protein KIBRA isoform X5

    UniProtKB/TrEMBL
    H3BLZ3
    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_011534490.2XP_011532792.1  protein KIBRA isoform X6

    UniProtKB/TrEMBL
    H3BLZ3
    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_011534487.2XP_011532789.1  protein KIBRA isoform X3

    UniProtKB/TrEMBL
    H3BLZ3
    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_011534489.2XP_011532791.1  protein KIBRA isoform X4

    UniProtKB/TrEMBL
    H3BLZ3
    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_011534491.2XP_011532793.1  protein KIBRA isoform X7

    UniProtKB/TrEMBL
    H3BLZ3
    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_017009276.2XP_016864765.1  protein KIBRA isoform X8

    UniProtKB/TrEMBL
    H3BLZ3
  9. XM_005265850.2XP_005265907.1  protein KIBRA isoform X9

    UniProtKB/TrEMBL
    H3BLZ3
    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_047417017.1XP_047272973.1  protein KIBRA isoform X10

    UniProtKB/TrEMBL
    H3BLZ3
  11. XM_047417018.1XP_047272974.1  protein KIBRA isoform X11

    UniProtKB/TrEMBL
    H3BLZ3
  12. XM_005265853.3XP_005265910.1  protein KIBRA isoform X12

    UniProtKB/TrEMBL
    H3BLZ3
    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
  13. XM_047417021.1XP_047272977.1  protein KIBRA isoform X13

    UniProtKB/TrEMBL
    H3BLZ3
  14. XM_047417019.1XP_047272975.1  protein KIBRA isoform X13

    UniProtKB/TrEMBL
    H3BLZ3
  15. XM_047417020.1XP_047272976.1  protein KIBRA isoform X13

    UniProtKB/TrEMBL
    H3BLZ3
    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_054352201.1XP_054208176.1  protein KIBRA isoform X1

    UniProtKB/TrEMBL
    H3BLZ3
  2. XM_054352202.1XP_054208177.1  protein KIBRA isoform X2

    UniProtKB/TrEMBL
    H3BLZ3
  3. XM_054352205.1XP_054208180.1  protein KIBRA isoform X5

    UniProtKB/TrEMBL
    H3BLZ3
  4. XM_054352206.1XP_054208181.1  protein KIBRA isoform X6

    UniProtKB/TrEMBL
    H3BLZ3
  5. XM_054352203.1XP_054208178.1  protein KIBRA isoform X3

    UniProtKB/TrEMBL
    H3BLZ3
  6. XM_054352204.1XP_054208179.1  protein KIBRA isoform X4

    UniProtKB/TrEMBL
    H3BLZ3
  7. XM_054352207.1XP_054208182.1  protein KIBRA isoform X7

    UniProtKB/TrEMBL
    H3BLZ3
  8. XM_054352208.1XP_054208183.1  protein KIBRA isoform X8

    UniProtKB/TrEMBL
    H3BLZ3
  9. XM_054352209.1XP_054208184.1  protein KIBRA isoform X9

    UniProtKB/TrEMBL
    H3BLZ3
  10. XM_054352210.1XP_054208185.1  protein KIBRA isoform X10

    UniProtKB/TrEMBL
    H3BLZ3
  11. XM_054352211.1XP_054208186.1  protein KIBRA isoform X11

    UniProtKB/TrEMBL
    H3BLZ3
  12. XM_054352212.1XP_054208187.1  protein KIBRA isoform X12

    UniProtKB/TrEMBL
    H3BLZ3
  13. XM_054352215.1XP_054208190.1  protein KIBRA isoform X13

    UniProtKB/TrEMBL
    H3BLZ3
  14. XM_054352213.1XP_054208188.1  protein KIBRA isoform X13

    UniProtKB/TrEMBL
    H3BLZ3
  15. XM_054352214.1XP_054208189.1  protein KIBRA isoform X13

    UniProtKB/TrEMBL
    H3BLZ3
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