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

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: mouse all
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Genomic context

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_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

KIBRA, MTNR1B, and FKBP5 genotypes are associated with decreased odds of incident delirium in elderly post-surgical patients.
Title: KIBRA, MTNR1B, and FKBP5 genotypes are associated with decreased odds of incident delirium in elderly post-surgical patients.
The influence of hippocampal dopamine D2 receptor losses on episodic-memory decline across 5 years is moderated by BDNF and KIBRA polymorphisms.
Title: The influence of hippocampal dopamine D2 receptor losses on episodic-memory decline across 5 years is moderated by BDNF and KIBRA polymorphisms.
Hnrnpk protects against osteoarthritis through targeting WWC1 mRNA and inhibiting Hippo signaling pathway.
Title: Hnrnpk protects against osteoarthritis through targeting WWC1 mRNA and inhibiting Hippo signaling pathway.
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.
KIBRA upregulation increases susceptibility to podocyte injury and glomerular disease progression.
Title: KIBRA upregulation increases susceptibility to podocyte injury and glomerular disease progression.
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.
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.
KIBRA Gene Variant Is Associated with Ability in Chess and Science.
Title: KIBRA Gene Variant Is Associated with Ability in Chess and Science.
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.
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.

Submit: New GeneRIF Correction See all GeneRIFs (100)

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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A008Y41 (e-PCR)
- UniSTS:27664

GDB:434012 (e-PCR)
- UniSTS:157204

D5S1974 (e-PCR)
- UniSTS:19221

SHGC-149466 (e-PCR)
- UniSTS:184099

L17705 (e-PCR)
- UniSTS:66091

D8S2279 (e-PCR)
- UniSTS:473907

SGC38213 (e-PCR)
- UniSTS:30781

RH98746 (e-PCR)
- UniSTS:91458

RH48307 (e-PCR)
- UniSTS:73295

SHGC-1819 (e-PCR)
- UniSTS:88930

D5S671 (e-PCR)
- UniSTS:6246

D5S2709 (e-PCR)
- UniSTS:33393

SHGC-141859 (e-PCR)
- UniSTS:171121

WI-16909 (e-PCR)
- UniSTS:6776

D5S2299E (e-PCR)
- UniSTS:154507

L17877 (e-PCR)
- UniSTS:61334

RH12681 (e-PCR)
- UniSTS:35995

G60534 (e-PCR)
- UniSTS:137640

SHGC-146166 (e-PCR)
- UniSTS:175051

RH46531 (e-PCR)
- UniSTS:6609

D5S1651E (e-PCR)
- UniSTS:9951

SHGC-149247 (e-PCR)
- UniSTS:176884

SGC34514 (e-PCR)
- UniSTS:37880

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 signaling adaptor activity	IDA Inferred from Direct Assay 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 hippo signaling	IDA Inferred from Direct Assay 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
is_active_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
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
located_in postsynaptic density, intracellular component	IEA Inferred from Electronic Annotation more info
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

NG_016712.1 RefSeqGene

Range

4586..185244

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

168291645..168472303

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
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
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
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
XM_017009276.2 → XP_016864765.1 protein KIBRA isoform X8

UniProtKB/TrEMBL

H3BLZ3
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
XM_047417017.1 → XP_047272973.1 protein KIBRA isoform X10
XM_047417018.1 → XP_047272974.1 protein KIBRA isoform X11
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
XM_047417021.1 → XP_047272977.1 protein KIBRA isoform X13
XM_047417019.1 → XP_047272975.1 protein KIBRA isoform X13
XM_047417020.1 → XP_047272976.1 protein KIBRA isoform X13

Related

ENSP00000429339.1, ENST00000524228.5