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WSB1 WD repeat and SOCS box containing 1 [ Homo sapiens (human) ]

Gene ID: 26118, updated on 14-Nov-2024

Summary

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Official Symbol
WSB1provided by HGNC
Official Full Name
WD repeat and SOCS box containing 1provided by HGNC
Primary source
HGNC:HGNC:19221
See related
Ensembl:ENSG00000109046 MIM:610091; AllianceGenome:HGNC:19221
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
SWIP1; WSB-1
Summary
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]
Expression
Ubiquitous expression in spleen (RPKM 64.5), lung (RPKM 63.6) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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See WSB1 in Genome Data Viewer
Location:
17q11.1
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (27294114..27315926)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (28235520..28257347)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (25621140..25642952)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein S16 pseudogene 8 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11892 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8322 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11893 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11894 Neighboring gene microRNA 4522 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:25651700-25652200 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:25652201-25652701 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:25655836-25656336 Neighboring gene uncharacterized LOC124903957 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11895 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:25664716-25665216 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11896 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11897 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11898 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8323 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11899 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11900 Neighboring gene uncharacterized LOC124903959 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:25672330-25672988 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8324 Neighboring gene uncharacterized LOC124903958 Neighboring gene synaptophysin like 1 pseudogene 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Increased WSB1 copy number correlates with its over-expression which associates with increased survival in neuroblastoma. Chen QR, et al. Genes Chromosomes Cancer, 2006 Sep. PMID 16804916
  2. WSB1 Involvement in Prostate Cancer Progression. Boldrini L, et al. Genes (Basel), 2023 Jul 29. PMID 37628609, Free PMC Article
  3. The WSB1 gene is involved in pancreatic cancer progression. Archange C, et al. PLoS One, 2008 Jun 25. PMID 18575577, Free PMC Article
  4. Potential role of WSB1 isoforms in growth and survival of neuroblastoma cells. Shichrur K, et al. Pediatr Res, 2014 Apr. PMID 24441107
  5. High expression of WSB1 is associated with poor prognosis in hepatocellular carcinoma and affects epithelial-mesenchymal transition. Xu H, et al. J BUON, 2020 Jul-Aug. PMID 33099929

See all (60) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. WSB1/2 target chromatin-bound lysine-methylated RelA for proteasomal degradation and NF-kappaB termination.
    Title: WSB1/2 target chromatin-bound lysine-methylated RelA for proteasomal degradation and NF-κB termination.
  2. WSB1 Involvement in Prostate Cancer Progression.
    Title: WSB1 Involvement in Prostate Cancer Progression.
  3. WSB1 and IL21R Genetic Variants Are Involved in Th2 Immune Responses to Ascaris lumbricoides.
    Title: WSB1 and IL21R Genetic Variants Are Involved in Th2 Immune Responses to Ascaris lumbricoides.
  4. High expression of WSB1 is associated with poor prognosis in hepatocellular carcinoma and affects epithelial-mesenchymal transition.
    Title: High expression of WSB1 is associated with poor prognosis in hepatocellular carcinoma and affects epithelial-mesenchymal transition.
  5. WSB-1 may be an important regulator of aggressive metastatic disease in hormone receptor-negative breast cancer. WSB-1 could therefore represent a novel regulator and therapeutic target for secondary breast cancer in these patients.
    Title: WSB-1 regulates the metastatic potential of hormone receptor negative breast cancer.
  6. howed that miR-592 directly binds to the 3'-UTR of the WSB1 gene, thus disrupting hypoxia inducible factor-1alpha (HIF-1alpha) protein stabilization
    Title: miR-592/WSB1/HIF-1α axis inhibits glycolytic metabolism to decrease hepatocellular carcinoma growth.
  7. WSB1 is one of the key players of early oncogenic events through ATM degradation and destruction of the tumorigenesis barrier.
    Title: WSB1 overcomes oncogene-induced senescence by targeting ATM for degradation.
  8. WSB1 in glucose metabolism, and perhaps in mediating the Warburg effect in cancer cells by maintaining the function of HIF1.
    Title: WSB1: from homeostasis to hypoxia.
  9. WSB1 up-regulates the expression of HIF-1alpha's target genes and promotes cancer invasion and metastasis through its effect on pVHL
    Title: WSB1 promotes tumor metastasis by inducing pVHL degradation.
  10. combination of WSB1(3) silencing together with WSB1 isoforms 1+2 silencing in NB cells showed reduced growth, enhanced apoptosis rate, and increased sensitivity to chemotherapeutic agents, specifically related to low expression of WSB1
    Title: Potential role of WSB1 isoforms in growth and survival of neuroblastoma cells.
Submit: New GeneRIF Correction See all GeneRIFs (17)

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

EBI GWAS Catalog

Description
A genome-wide association study identifies novel loci associated with susceptibility to chronic myeloid leukemia.
EBI GWAS Catalog
GWAS of dental caries patterns in the permanent dentition.
EBI GWAS Catalog

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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables ubiquitin protein ligase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in intracellular signal transduction IEA
Inferred from Electronic Annotation
more info
  
involved_in protein K27-linked ubiquitination IEA
Inferred from Electronic Annotation
more info
  
involved_in protein aggregate center assembly IEA
Inferred from Electronic Annotation
more info
  
involved_in protein polyubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
WD repeat and SOCS box-containing protein 1
Names
SOCS box-containing WD protein SWiP-1

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.

mRNA and Protein(s)

  1. NM_001348350.2 → NP_001335279.1  WD repeat and SOCS box-containing protein 1 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an in-frame exon in the 3' coding region comapred to variant 1. The encoded isoform (3) is shorter than isoform 1.
    Source sequence(s)
    AC026254, AK074917
    UniProtKB/TrEMBL
    Q53HK4, Q8NC76
    Conserved Domains (3) summary
    cd00200
    Location:135 → 350
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    cd03746
    Location:344 → 383
    SOCS_WSB1_SWIP1; SOCS (suppressors of cytokine signaling) box of WSB1/SWiP1-like proteins. This subfamily contains WSB-1 (SOCS-box-containing WD-40 protein), part of an E3 ubiquitin ligase for the thyroid-hormone-activating type 2 iodothyronine deiodinase (D2) and SWiP-1 ...
    sd00039
    Location:174 → 212
    7WD40; WD40 repeat [structural motif]

  2. NM_015626.10 → NP_056441.6  WD repeat and SOCS box-containing protein 1 isoform 1

    See identical proteins and their annotated locations for NP_056441.6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC026254, AK074917, BC021110, BC048007, BU189299, DC308179
    Consensus CDS
    CCDS11220.1
    UniProtKB/Swiss-Prot
    Q9NRB1, Q9UBH9, Q9UG25, Q9UNN6, Q9Y656, Q9Y6I7
    UniProtKB/TrEMBL
    Q53HK4, Q8NC76
    Related
    ENSP00000262394.2, ENST00000262394.7
    Conserved Domains (4) summary
    COG2319
    Location:38 → 382
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:135 → 388
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    cd03746
    Location:382 → 421
    SOCS_WSB1_SWIP1; SOCS (suppressors of cytokine signaling) box of WSB1/SWiP1-like proteins. This subfamily contains WSB-1 (SOCS-box-containing WD-40 protein), part of an E3 ubiquitin ligase for the thyroid-hormone-activating type 2 iodothyronine deiodinase (D2) and SWiP-1 ...
    sd00039
    Location:174 → 212
    7WD40; WD40 repeat [structural motif]

  3. NM_134265.4 → NP_599027.1  WD repeat and SOCS box-containing protein 1 isoform 2

    See identical proteins and their annotated locations for NP_599027.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks two in-frame exons in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC026254, AF240696, AK074917, BC048007, BU189299, DC308179
    Consensus CDS
    CCDS11221.1
    Related
    ENSP00000327055.2, ENST00000348811.6
    Conserved Domains (3) summary
    cd00200
    Location:14 → 233
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    cd03746
    Location:236 → 275
    SOCS_WSB1_SWIP1; SOCS (suppressors of cytokine signaling) box of WSB1/SWiP1-like proteins. This subfamily contains WSB-1 (SOCS-box-containing WD-40 protein), part of an E3 ubiquitin ligase for the thyroid-hormone-activating type 2 iodothyronine deiodinase (D2) and SWiP-1 ...
    sd00039
    Location:28 → 66
    7WD40; WD40 repeat [structural motif]

RNA

  1. NR_145520.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site in an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC026254, AK074917, BC048007

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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    27294114..27315926
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017024434.2 → XP_016879923.1  WD repeat and SOCS box-containing protein 1 isoform X1

    Conserved Domains (4) summary
    COG2319
    Location:3 → 173
    WD40; WD40 repeat [General function prediction only]
    cd03746
    Location:177 → 216
    SOCS_WSB1_SWIP1; SOCS (suppressors of cytokine signaling) box of WSB1/SWiP1-like proteins. This subfamily contains WSB-1 (SOCS-box-containing WD-40 protein), part of an E3 ubiquitin ligase for the thyroid-hormone-activating type 2 iodothyronine deiodinase (D2) and SWiP-1 ...
    sd00039
    Location:12 → 48
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:3 → 173
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

  2. XM_005257963.5 → XP_005258020.1  WD repeat and SOCS box-containing protein 1 isoform X1

    Conserved Domains (4) summary
    COG2319
    Location:3 → 173
    WD40; WD40 repeat [General function prediction only]
    cd03746
    Location:177 → 216
    SOCS_WSB1_SWIP1; SOCS (suppressors of cytokine signaling) box of WSB1/SWiP1-like proteins. This subfamily contains WSB-1 (SOCS-box-containing WD-40 protein), part of an E3 ubiquitin ligase for the thyroid-hormone-activating type 2 iodothyronine deiodinase (D2) and SWiP-1 ...
    sd00039
    Location:12 → 48
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:3 → 173
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    28235520..28257347
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054315695.1 → XP_054171670.1  WD repeat and SOCS box-containing protein 1 isoform X1

  2. XM_054315696.1 → XP_054171671.1  WD repeat and SOCS box-containing protein 1 isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_134264.2: Suppressed sequence

    Description
    NM_134264.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y6I7.1 GenPept UniProtKB/Swiss-Prot:Q9Y6I7

Gene LinkOut

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