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    SETBP1 SET binding protein 1 [ Homo sapiens (human) ]

    Gene ID: 26040, updated on 12-Mar-2017
    Official Symbol
    SETBP1provided by HGNC
    Official Full Name
    SET binding protein 1provided by HGNC
    Primary source
    HGNC:HGNC:15573
    See related
    Ensembl:ENSG00000152217 MIM:611060; Vega:OTTHUMG00000132613
    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
    SEB; MRD29
    Summary
    This gene encodes a protein which contains a several motifs including a ski homology region and a SET-binding region in addition to three nuclear localization signals. The encoded protein has been shown to bind the SET nuclear oncogene which is involved in DNA replication. Mutations in this gene are associated with Schinzel-Giedion midface retraction syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
    Orthologs
    Location:
    18q12.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 18 NC_000018.10 (44680173..45068510)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (42258849..42648475)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372089 Neighboring gene uncharacterized LOC101927943 Neighboring gene microRNA 4319 Neighboring gene uncharacterized LOC105372091 Neighboring gene uncharacterized LOC101927961

    • 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?

    Associated conditions

    Description Tests
    Mental retardation, autosomal dominant 29
    MedGen: CN220547 OMIM: 616078 GeneReviews: Not available
    Compare labs
    Schinzel-Giedion syndrome
    MedGen: C1849294 OMIM: 269150 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2013-08-01)

    ClinGen Genome Curation Page
    Haploinsufficency

    Some evidence for dosage pathogenicity (Last evaluated (2013-08-01)

    ClinGen Genome Curation PagePubMed

    NHGRI GWAS Catalog

    Description
    Identification of three novel genetic variations associated with electrocardiographic traits (QRS duration and PR interval) in East Asians.
    NHGRI GWA Catalog
    Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases.
    NHGRI GWA Catalog
    • Histone Modifications, organism-specific biosystem (from WikiPathways)
      Histone Modifications, organism-specific biosystemHistones can undergo many post-translational modifications that are involved in transcription regulation. This pathway provides an overview of various modifications for histones H3 and H4 and the en...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • KIAA0437, DKFZp666J1210

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    nuclear body IDA
    Inferred from Direct Assay
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
     

    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.

    Genomic

    1. NG_027527.1 RefSeqGene

      Range
      5726..393338
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001130110.1NP_001123582.1  SET-binding protein isoform b

      See identical proteins and their annotated locations for NP_001123582.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, 3' UTR, and coding region compared to variant 1. The resulting isoform (b) has a shorter and distinct C-terminus compared to isoform a.
      Source sequence(s)
      BC062338, CF143191
      Consensus CDS
      CCDS45859.1
      UniProtKB/Swiss-Prot
      Q9Y6X0
      Related
      ENSP00000390687, OTTHUMP00000209757, ENST00000426838, OTTHUMT00000343906
    2. NM_015559.2NP_056374.2  SET-binding protein isoform a

      See identical proteins and their annotated locations for NP_056374.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AC090376, AC105074, BC146776, BQ641251
      Consensus CDS
      CCDS11923.2
      UniProtKB/Swiss-Prot
      Q9Y6X0
      Related
      ENSP00000282030, OTTHUMP00000163447, ENST00000282030, OTTHUMT00000255854

    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_000018.10 Reference GRCh38.p7 Primary Assembly

      Range
      44680173..45068510
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018929.2 Alternate CHM1_1.1

      Range
      42187179..42575496
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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