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    Setbp1 SET binding protein 1 [ Mus musculus (house mouse) ]

    Gene ID: 240427, updated on 27-Nov-2024

    Summary

    Official Symbol
    Setbp1provided by MGI
    Official Full Name
    SET binding protein 1provided by MGI
    Primary source
    MGI:MGI:1933199
    See related
    Ensembl:ENSMUSG00000024548 AllianceGenome:MGI:1933199
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Seb; mKIAA0437; C130092E12
    Summary
    Predicted to enable histone H3K4 methyltransferase activity. Predicted to be involved in regulation of DNA-templated transcription. Predicted to be located in cytosol and nuclear body. Predicted to be active in nucleoplasm. Is expressed in central nervous system and retina. Human ortholog(s) of this gene implicated in Schinzel Giedion syndrome and autosomal dominant intellectual developmental disorder 29. Orthologous to human SETBP1 (SET binding protein 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in CNS E14 (RPKM 9.2), whole brain E14.5 (RPKM 8.3) and 19 other tissues See more
    Orthologs
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    Genomic context

    See Setbp1 in Genome Data Viewer
    Location:
    18 E3; 18 52.67 cM
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 18 NC_000084.7 (78793593..79153659, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 18 NC_000084.6 (78750378..79110444, complement)

    Chromosome 18 - NC_000084.7Genomic Context describing neighboring genes Neighboring gene solute carrier family 14 (urea transporter), member 2 Neighboring gene STARR-seq mESC enhancer starr_45145 Neighboring gene predicted gene, 26430 Neighboring gene STARR-seq mESC enhancer starr_45147 Neighboring gene predicted gene, 23895 Neighboring gene STARR-seq mESC enhancer starr_45148 Neighboring gene STARR-seq mESC enhancer starr_45149 Neighboring gene STARR-positive B cell enhancer ABC_E1963 Neighboring gene STARR-seq mESC enhancer starr_45150 Neighboring gene STARR-seq mESC enhancer starr_45151 Neighboring gene STARR-positive B cell enhancer ABC_E7614 Neighboring gene heterogeneous nuclear ribonucleoprotein D-like pseudogene Neighboring gene ATP-binding cassette, sub-family F (GCN20), member 2 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (5) 

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC90748

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3K4 methyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables molecular_function ND
    No biological Data available
    more info
     
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
     
    involved_in regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nuclear body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nuclear body ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    PubMed 

    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_053099.3NP_444329.2  SET-binding protein

      See identical proteins and their annotated locations for NP_444329.2

      Status: VALIDATED

      Source sequence(s)
      AC114924, AC131736, AC140455, AC146613
      Consensus CDS
      CCDS29362.2
      UniProtKB/Swiss-Prot
      Q66JL8, Q9Z180
      Related
      ENSMUSP00000025430.10, ENSMUST00000025430.11

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000084.7 Reference GRCm39 C57BL/6J

      Range
      78793593..79153659 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)