WBP11 WW domain binding protein 11 [Homo sapiens (human)] - Gene

Summary

Official Symbol: WBP11provided by HGNC
Official Full Name: WW domain binding protein 11provided by HGNC
Primary source: HGNC:HGNC:16461
See related: Ensembl:ENSG00000084463 MIM:618083; AllianceGenome:HGNC:16461
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: BUG13; FAP90; NPWBP; SIPP1; VCTRL; CFAP90; VCTERL; WBP-11; PPP1R165
Summary: This gene encodes a nuclear protein, which colocalizes with mRNA splicing factors and intermediate filament-containing perinuclear networks. This protein has 95% amino acid sequence identity to the mouse Wbp11 protein. It contains two proline-rich regions that bind to the WW domain of Npw38, a nuclear protein, and thus this protein is also called Npw38-binding protein NpwBP. The Npw38-NpwBP complex may function as a component of an mRNA factory in the nucleus. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in testis (RPKM 48.6), bone marrow (RPKM 38.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12p12.3

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (14784582..14803478, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (14661939..14680843, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (14937516..14956412, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice.
Title: Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice.
The WW domain belonging to polyglutamine tract-binding protein 1 (PQBP1) is of particular interest due to its direct involvement in several X chromosome-linked intellectual disabilities, including Golabi-Ito-Hall (GIH) syndrome, where a single point mutation (Y65C) correlates with the development of the disease. The mutant cannot bind to its natural ligand WBP11, which regulates mRNA processing
Title: Changes in the folding landscape of the WW domain provide a molecular mechanism for an inherited genetic syndrome.
SIPP1 is a positive regulator of pre-mRNA splicing that is regulated by nucleocytoplasmic shuttling
Title: Nucleocytoplasmic shuttling of the splicing factor SIPP1.

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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
Vertebral, cardiac, tracheoesophageal, renal, and limb defects MedGen: C5543189 OMIM: 619227 GeneReviews: Not available	not available

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

D12S932 (e-PCR)
- UniSTS:149933

D12S1247E (e-PCR)
- UniSTS:151495

WI-18587 (e-PCR)
- UniSTS:77555

STS-H03835 (e-PCR)
- UniSTS:31227

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables WW domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables single-stranded DNA binding	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in RNA splicing	IEA Inferred from Electronic Annotation more info
involved_in mRNA processing	IEA Inferred from Electronic Annotation more info
involved_in rRNA processing	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: WW domain-binding protein 11

Names: Npw38-binding protein NpwBP; SH3 domain-binding protein SNP70; protein phosphatase 1, regulatory subunit 165; splicing factor that interacts with PQBP-1 and PP1; splicing factor, PQBP1 and PP1 interacting

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.