This gene encodes a member of the WD-protein subfamily. This protein shares a high sequence identity to mouse and chick proteins. It contains several WD-repeats spanning most of the protein and an SOCS box in the C-terminus. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] See more...

Aliases for WSB1 Gene

Aliases for WSB1 Gene

  • WD Repeat And SOCS Box Containing 1 2 3 5
  • WD Repeat And SOCS Box-Containing Protein 1 3 4
  • SOCS Box-Containing WD Protein SWiP-1 3 4
  • SWIP1 3 4
  • WSB-1 3 4
  • WD Repeat And SOCS Box-Containing 1 2

External Ids for WSB1 Gene

Previous GeneCards Identifiers for WSB1 Gene

  • GC17P025476
  • GC17P027520
  • GC17P025766
  • GC17P022645
  • GC17P025621
  • GC17P021829

Summaries for WSB1 Gene

Entrez Gene Summary for WSB1 Gene

  • This gene encodes a member of the WD-protein subfamily. This protein shares a high sequence identity to mouse and chick proteins. It contains several WD-repeats spanning most of the protein and an SOCS box in the C-terminus. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for WSB1 Gene

WSB1 (WD Repeat And SOCS Box Containing 1) is a Protein Coding gene. Diseases associated with WSB1 include Deafness, Autosomal Recessive 62. Among its related pathways are Class I MHC mediated antigen processing and presentation and Innate Immune System. An important paralog of this gene is WSB2.

UniProtKB/Swiss-Prot Summary for WSB1 Gene

  • Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Recognizes type II iodothyronine deiodinase/DIO2. Confers constitutive instability to HIPK2 through proteasomal degradation.

Gene Wiki entry for WSB1 Gene

Additional gene information for WSB1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for WSB1 Gene

Genomics for WSB1 Gene

GeneHancer (GH) Regulatory Elements for WSB1 Gene

Promoters and enhancers for WSB1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J027292 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 +1.5 1517 5.2 EP300 ZBTB40 ZSCAN5C SIN3A NRF1 TCF12 MYC POLR2G USF1 SP1 MIR4522 NONHSAG021249.2 WSB1 piR-58157 TBC1D3P5 piR-38891
GH17J027237 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE CraniofacialAtlas 31.5 -51.8 -51837 8.8 ZNF217 CTCF USF1 SP1 RBAK TEAD4 ZNF354C EP300 ZIC2 POLR2A ENSG00000265246 WSB1 ITM2BP1 LGALS9 piR-37972-270
GH17J027351 Promoter/Enhancer 2.3 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 23.1 +59.2 59164 3.4 CTCF NRF1 POLR2G PHF8 JUND FOS ZFX ZIC2 REST POLR2A HSALNG0115393 SYPL1P2 lnc-NOS2-11 WSB1 ITM2BP1 LGALS9 ENSG00000266313
GH17J027331 Promoter/Enhancer 2.3 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 14.7 +38.9 38895 3.3 ZBTB40 ZNF217 CTCF ZSCAN5C SIN3A NRF1 TCF12 MYC USF1 SP1 ENSG00000266313 WSB1 LGALS9 piR-56133-087
GH17J027343 Promoter/Enhancer 1.8 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 16.3 +51.5 51463 3.4 EP300 NRF1 MYC GTF2E2 ZBTB11 NFRKB HINFP TAF9B RBM25 POLR2A WSB1 SYPL1P2 FJ601684-174 lnc-WSB1-2 ENSG00000266313
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around WSB1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for WSB1

Top Transcription factor binding sites by QIAGEN in the WSB1 gene promoter:
  • AML1a
  • CUTL1
  • En-1
  • Evi-1
  • Gfi-1
  • Nkx2-2
  • POU2F1
  • POU2F1a
  • RORalpha2
  • XBP-1

Genomic Locations for WSB1 Gene

Genomic Locations for WSB1 Gene
chr17:27,294,076-27,315,926
(GRCh38/hg38)
Size:
21,851 bases
Orientation:
Plus strand
chr17:25,621,102-25,640,657
(GRCh37/hg19)
Size:
19,556 bases
Orientation:
Plus strand

Genomic View for WSB1 Gene

Genes around WSB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
WSB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for WSB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for WSB1 Gene

Proteins for WSB1 Gene

  • Protein details for WSB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y6I7-WSB1_HUMAN
    Recommended name:
    WD repeat and SOCS box-containing protein 1
    Protein Accession:
    Q9Y6I7
    Secondary Accessions:
    • Q9NRB1
    • Q9UBH9
    • Q9UG25
    • Q9UNN6
    • Q9Y656

    Protein attributes for WSB1 Gene

    Size:
    421 amino acids
    Molecular mass:
    47432 Da
    Quaternary structure:
    • Interacts with DIO2. Component of the probable ECS(WSB1) E3 ubiquitin ligase complex which contains CUL5, RNF7/RBX2, Elongin BC complex and WSB1. Component of a probable ECS-like E3 ubiquitin-protein ligase complex which contains CUL5, RBX1, Elongin BC complex and WSB1. Interacts with CUL5, RNF7, ELOB and ELOC. Binds to HIPK2 through WD40 repeats.

    Alternative splice isoforms for WSB1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for WSB1 Gene

Post-translational modifications for WSB1 Gene

  • Ubiquitination at Lys208
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for WSB1

No data available for DME Specific Peptides for WSB1 Gene

Domains & Families for WSB1 Gene

Gene Families for WSB1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for WSB1 Gene

GenScript: Design optimal peptide antigens:
  • WSB1 protein (A0JLP1_HUMAN)
  • SOCS box-containing WD protein SWiP-1 (WSB1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y6I7

UniProtKB/Swiss-Prot:

WSB1_HUMAN :
  • The SOCS box domain mediates the interaction with the Elongin BC complex, an adapter module in different E3 ubiquitin ligase complexes.
Domain:
  • The SOCS box domain mediates the interaction with the Elongin BC complex, an adapter module in different E3 ubiquitin ligase complexes.
genes like me logo Genes that share domains with WSB1: view

Function for WSB1 Gene

Molecular function for WSB1 Gene

UniProtKB/Swiss-Prot Function:
Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Recognizes type II iodothyronine deiodinase/DIO2. Confers constitutive instability to HIPK2 through proteasomal degradation.

Phenotypes From GWAS Catalog for WSB1 Gene

Gene Ontology (GO) - Molecular Function for WSB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 18093972
genes like me logo Genes that share ontologies with WSB1: view
genes like me logo Genes that share phenotypes with WSB1: view

Animal Model Products

CRISPR Products

miRNA for WSB1 Gene

miRTarBase miRNAs that target WSB1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for WSB1 Gene

Localization for WSB1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for WSB1 gene
Compartment Confidence
cytosol 5
nucleus 3
mitochondrion 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for WSB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IDA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with WSB1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for WSB1 Gene

Pathways & Interactions for WSB1 Gene

genes like me logo Genes that share pathways with WSB1: view

UniProtKB/Swiss-Prot Q9Y6I7-WSB1_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

SIGNOR curated interactions for WSB1 Gene

Inactivates:

Gene Ontology (GO) - Biological Process for WSB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination TAS --
GO:0008150 biological_process ND --
GO:0016567 protein ubiquitination IEA --
GO:0035556 intracellular signal transduction IEA --
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with WSB1: view

Drugs & Compounds for WSB1 Gene

No Compound Related Data Available

Transcripts for WSB1 Gene

mRNA/cDNA for WSB1 Gene

4 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for WSB1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3a · 3b · 3c · 3d ^ 4a · 4b · 4c · 4d ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c · 7d ^ 8a · 8b · 8c · 8d ·
SP1: - - - - - - - - - -
SP2: - - - - - - - - - - - - - - - -
SP3: -
SP4: - - - - -
SP5: -
SP6: - -
SP7: -
SP8:
SP9: - - - -
SP10: - - - - - - - - - - - -
SP11: - - - - - - - - -
SP12:
SP13: - - - -
SP14: - - - - - -
SP15: - - - - - - - - - - - - - -
SP16: - - - - - - -
SP17: - -

ExUns: 8e ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13
SP1: - - -
SP2: - - -
SP3: - -
SP4: - - -
SP5: - - -
SP6: - - -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:

Relevant External Links for WSB1 Gene

GeneLoc Exon Structure for
WSB1

Expression for WSB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for WSB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for WSB1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for WSB1

SOURCE GeneReport for Unigene cluster for WSB1 Gene:

Hs.446017

Evidence on tissue expression from TISSUES for WSB1 Gene

  • Nervous system(5)
  • Intestine(4.4)
  • Lung(3.5)
  • Kidney(2.8)
  • Thyroid gland(2.7)
  • Spleen(2.3)
  • Blood(2.2)
  • Eye(2)
  • Gall bladder(2)
genes like me logo Genes that share expression patterns with WSB1: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for WSB1 Gene

Orthologs for WSB1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for WSB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia WSB1 31 30
  • 99.52 (n)
OneToOne
dog
(Canis familiaris)
Mammalia WSB1 31 30
  • 95.57 (n)
OneToOne
cow
(Bos Taurus)
Mammalia WSB1 31 30
  • 94.93 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 92 (a)
OneToMany
-- 31
  • 83 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Wsb1 30
  • 90.34 (n)
mouse
(Mus musculus)
Mammalia Wsb1 17 31 30
  • 90.32 (n)
oppossum
(Monodelphis domestica)
Mammalia WSB1 31
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves SWIP-1 31
  • 88 (a)
OneToOne
WSB1 30
  • 81.95 (n)
lizard
(Anolis carolinensis)
Reptilia WSB1 31
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia wsb1 30
  • 77.86 (n)
MGC75613 30
African clawed frog
(Xenopus laevis)
Amphibia wsb1-pending-prov 30
zebrafish
(Danio rerio)
Actinopterygii wsb1 31 30
  • 68.73 (n)
OneToOne
wufb92g11 30
fruit fly
(Drosophila melanogaster)
Insecta can 31
  • 7 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea taf-5 31
  • 11 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TAF5 31
  • 10 (a)
OneToMany
SKI8 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 40 (a)
OneToMany
Species where no ortholog for WSB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for WSB1 Gene

ENSEMBL:
Gene Tree for WSB1 (if available)
TreeFam:
Gene Tree for WSB1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for WSB1: view image

Paralogs for WSB1 Gene

Paralogs for WSB1 Gene

(37) SIMAP similar genes for WSB1 Gene using alignment to 10 proteins:

  • WSB1_HUMAN
  • A0JLP1_HUMAN
  • B4DGB8_HUMAN
  • B4DTL1_HUMAN
  • J3KRG6_HUMAN
  • J3KS88_HUMAN
  • J3KSQ3_HUMAN
  • J3KT03_HUMAN
  • J3KTB3_HUMAN
  • J3QLM8_HUMAN
genes like me logo Genes that share paralogs with WSB1: view

Variants for WSB1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for WSB1 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs6561 - p.Leu16Ser

Additional dbSNP identifiers (rs#s) for WSB1 Gene

Structural Variations from Database of Genomic Variants (DGV) for WSB1 Gene

Variant ID Type Subtype PubMed ID
dgv540e199 CNV deletion 23128226
dgv902e212 CNV loss 25503493

Variation tolerance for WSB1 Gene

Residual Variation Intolerance Score: 19.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.49; 91.07% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for WSB1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
WSB1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for WSB1 Gene

Disorders for WSB1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for WSB1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
deafness, autosomal recessive 62
  • dfnb62
- elite association - COSMIC cancer census association via MalaCards
Search WSB1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for WSB1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with WSB1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for WSB1 Gene

Publications for WSB1 Gene

  1. SWiP-1: novel SOCS box containing WD-protein regulated by signalling centres and by Shh during development. (PMID: 10354473) Vasiliauskas D … Stern CD (Mechanisms of development 1999) 2 3 4 54
  2. Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. (PMID: 18978678) Vieira AR … Marazita ML (Genetics in medicine : official journal of the American College of Medical Genetics 2008) 3 41 54
  3. Ubiquitination and degradation of homeodomain-interacting protein kinase 2 by WD40 repeat/SOCS box protein WSB-1. (PMID: 18093972) Choi DW … Choi CY (The Journal of biological chemistry 2008) 3 4 54
  4. The Hedgehog-inducible ubiquitin ligase subunit WSB-1 modulates thyroid hormone activation and PTHrP secretion in the developing growth plate. (PMID: 15965468) Dentice M … Bianco AC (Nature cell biology 2005) 3 4 54
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54

Products for WSB1 Gene

Sources for WSB1 Gene