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

Gene ID: 26118, updated on 5-Jul-2020

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
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

Genomic context

See WSB1 in Genome Data Viewer
Location:
17q11.1
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (27294080..27315926)
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

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
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
 

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)

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
    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
    Q9Y6I7
    UniProtKB/TrEMBL
    A0A024QZ51, 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
    UniProtKB/Swiss-Prot
    Q9Y6I7
    UniProtKB/TrEMBL
    A0A024QZ36, Q8NC76
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    27294080..27315926
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017024435.2XP_016879924.1  WD repeat and SOCS box-containing protein 1 isoform X2

    UniProtKB/Swiss-Prot
    Q9Y6I7
    Related
    ENST00000467843.6
    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 ...
  2. XM_017024436.2XP_016879925.1  WD repeat and SOCS box-containing protein 1 isoform X2

    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_005257963.4XP_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 ...
  4. XM_017024434.1XP_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 ...

RNA

  1. XR_001752468.1 RNA Sequence

  2. XR_001752470.1 RNA Sequence

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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