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MSC musculin [ Homo sapiens (human) ]

Gene ID: 9242, updated on 27-Nov-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)

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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)