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

    Gene ID: 26118, updated on 27-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
    • 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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    NEW Try the new Transcript table

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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