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

    Gene ID: 26118, updated on 28-Oct-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 biological_process ND
    No biological Data available
    more info
     
    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

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

    NCBI Reference Sequences (RefSeq)

    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_001348350.2NP_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:135350
      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:344383
      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:174212
      7WD40; WD40 repeat [structural motif]
    2. NM_015626.10NP_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:38382
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:135388
      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:382421
      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:174212
      7WD40; WD40 repeat [structural motif]
    3. NM_134265.4NP_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:14233
      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:236275
      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:2866
      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_017024434.2XP_016879923.1  WD repeat and SOCS box-containing protein 1 isoform X1

      Conserved Domains (4) summary
      COG2319
      Location:3173
      WD40; WD40 repeat [General function prediction only]
      cd03746
      Location:177216
      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:1248
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:3173
      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_005257963.5XP_005258020.1  WD repeat and SOCS box-containing protein 1 isoform X1

      Conserved Domains (4) summary
      COG2319
      Location:3173
      WD40; WD40 repeat [General function prediction only]
      cd03746
      Location:177216
      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:1248
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:3173
      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_054315695.1XP_054171670.1  WD repeat and SOCS box-containing protein 1 isoform X1

    2. XM_054315696.1XP_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.