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

    Gene ID: 26118, updated on 8-Sep-2017
    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; Vega:OTTHUMG00000132293
    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]
    Orthologs
    Location:
    17q11.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 17 NC_000017.11 (27294080..27313631)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (25621106..25640659)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein S16 pseudogene 8 Neighboring gene microRNA 4522 Neighboring gene synaptophysin like 1 pseudogene 2 Neighboring gene uncharacterized LOC105371705

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    A genome-wide association study identifies novel loci associated with susceptibility to chronic myeloid leukemia.
    NHGRI GWA Catalog
    GWAS of dental caries patterns in the permanent dentition.
    NHGRI GWA Catalog
    • Adaptive Immune System, organism-specific biosystem (from REACTOME)
      Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
    • Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystem (from REACTOME)
      Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystemIntracellular foreign or aberrant host proteins are cleaved into peptide fragments of a precise size, such that they can be loaded on to class I MHC molecules and presented externally to cytotoxic T ...
    • Class I MHC mediated antigen processing & presentation, organism-specific biosystem (from REACTOME)
      Class I MHC mediated antigen processing & presentation, organism-specific biosystemMajor histocompatibility complex (MHC) class I molecules play an important role in cell mediated immunity by reporting on intracellular events such as viral infection, the presence of intracellular b...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    ubiquitin-protein transferase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    ubiquitin-protein transferase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    biological_process ND
    No biological Data available
    more info
     
    intracellular signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    post-translational protein modification TAS
    Traceable Author Statement
    more info
     
    protein polyubiquitination TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
     
    intracellular IDA
    Inferred from Direct Assay
    more info
     
    Preferred Names
    WD repeat and SOCS box-containing protein 1
    Names
    SOCS box-containing WD protein SWiP-1

    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_001348350.1NP_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
      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_015626.9NP_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)
      AK074917, BC021110, BC048007, BU189299, DC308179
      Consensus CDS
      CCDS11220.1
      UniProtKB/Swiss-Prot
      Q9Y6I7
      UniProtKB/TrEMBL
      A0A024QZ51, Q8NC76
      Related
      ENSP00000262394.2, OTTHUMP00000163132, ENST00000262394.6, OTTHUMT00000255391
      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_134265.3NP_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)
      AF240696, AK074917, BC048007, BU189299, DC308179
      Consensus CDS
      CCDS11221.1
      UniProtKB/Swiss-Prot
      Q9Y6I7
      UniProtKB/TrEMBL
      A0A024QZ36, Q8NC76
      Related
      ENSP00000327055.2, OTTHUMP00000163133, ENST00000348811.6, OTTHUMT00000255392
      Conserved Domains (4) summary
      COG2319
      Location:14236
      WD40; WD40 repeat [General function prediction only]
      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_145520.1 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, DC308179

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p7 Primary Assembly

      Range
      27294080..27313631
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017024433.1XP_016879922.1  WD repeat and SOCS box-containing protein 1 isoform X1

      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. XM_017024436.1XP_016879925.1  WD repeat and SOCS box-containing protein 1 isoform X3

      UniProtKB/Swiss-Prot
      Q9Y6I7
      Conserved Domains (4) summary
      COG2319
      Location:2188
      WD40; WD40 repeat [General function prediction only]
      cd03746
      Location:180219
      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:1552
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:35176
      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 ...
    3. XM_017024435.1XP_016879924.1  WD repeat and SOCS box-containing protein 1 isoform X3

      UniProtKB/Swiss-Prot
      Q9Y6I7
      Conserved Domains (4) summary
      COG2319
      Location:2188
      WD40; WD40 repeat [General function prediction only]
      cd03746
      Location:180219
      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:1552
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:35176
      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 ...
    4. XM_017024434.1XP_016879923.1  WD repeat and SOCS box-containing protein 1 isoform X2

      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 ...
    5. XM_005257963.3XP_005258020.1  WD repeat and SOCS box-containing protein 1 isoform X2

      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 ...

    RNA

    1. XR_001752468.1 RNA Sequence

    2. XR_001752469.1 RNA Sequence

      Related
      ENST00000467843.6
    3. XR_001752470.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018928.2 Alternate CHM1_1.1

      Range
      25683901..25703408
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    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.
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