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    MSC musculin [ Homo sapiens (human) ]

    Gene ID: 9242, updated on 9-Dec-2024

    Summary

    Official Symbol
    MSCprovided by HGNC
    Official Full Name
    musculinprovided by HGNC
    Primary source
    HGNC:HGNC:7321
    See related
    Ensembl:ENSG00000178860 MIM:603628; AllianceGenome:HGNC:7321
    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
    ABF1; MYOR; ABF-1; bHLHa22
    Summary
    The protein encoded by this gene is a transcriptional repressor capable of binding an E-box element either as a homodimer or as a heterodimer with E2A in vitro. The encoded protein also forms heterodimers with E2A proteins in vivo. This protein is capable of inhibiting the transactivation capability of E47, an E2A protein, in mammalian cells. This gene is a downstream target of the B-cell receptor signal transduction pathway. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in placenta (RPKM 12.2), gall bladder (RPKM 7.2) and 23 other tissues See more
    Orthologs
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    Genomic context

    See MSC in Genome Data Viewer
    Location:
    8q13.3
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (71841560..71844412, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (72276765..72279617, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (72753795..72756647, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986890 Neighboring gene U8 small nucleolar RNA Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27517 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr8:72742776-72743975 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27519 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27520 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27521 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:72753440-72754300 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19278 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19279 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27522 Neighboring gene MSC antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27523 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19280 Neighboring gene ribosomal protein S20 pseudogene 20 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27524 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27525 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:72945660-72946859 Neighboring gene transient receptor potential cation channel subfamily A member 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:72987624-72988195

    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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleus TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    musculin
    Names
    activated B-cell factor 1, homolog of mouse musculin
    activated B-cell factor-1
    class A basic helix-loop-helix protein 22

    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_005098.4NP_005089.2  musculin

      See identical proteins and their annotated locations for NP_005089.2

      Status: REVIEWED

      Source sequence(s)
      AC104012
      Consensus CDS
      CCDS43746.1
      UniProtKB/Swiss-Prot
      O60682, O75946, Q53XZ2, Q9BRE7
      Related
      ENSP00000321445.4, ENST00000325509.5
      Conserved Domains (1) summary
      cd19703
      Location:105170
      bHLH_TS_musculin; basic helix-loop-helix (bHLH) domain found in musculin and similar proteins

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      71841560..71844412 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      72276765..72279617 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)