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MSC musculin [ Homo sapiens (human) ]

Gene ID: 9242, updated on 29-Mar-2020

Summary

Official Symbol
MSCprovided by HGNC
Official Full Name
musculinprovided by HGNC
Primary source
HGNC:HGNC:7321
See related
Ensembl:ENSG00000178860 MIM:603628
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

Genomic context

See MSC in Genome Data Viewer
Location:
8q13.3
Exon count:
2
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (71841542..71844496, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (72753777..72756731, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene 8q13.2-q13.3 distal HERV-mediated recombination region Neighboring gene uncharacterized LOC107986890 Neighboring gene MSC antisense RNA 1 Neighboring gene ribosomal protein S20 pseudogene 20 Neighboring gene transient receptor potential cation channel subfamily A member 1

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

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
branchiomeric skeletal muscle development IEA
Inferred from Electronic Annotation
more info
 
cellular response to leukemia inhibitory factor IEA
Inferred from Electronic Annotation
more info
 
developmental process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
diaphragm development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
roof of mouth development IEA
Inferred from Electronic Annotation
more info
 
skeletal muscle tissue development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription by RNA polymerase II TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
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)

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_005098.3NP_005089.2  musculin

    See identical proteins and their annotated locations for NP_005089.2

    Status: REVIEWED

    Source sequence(s)
    BC067827, BM685164, DB257094
    Consensus CDS
    CCDS43746.1
    UniProtKB/Swiss-Prot
    O60682
    Related
    ENSP00000321445.4, ENST00000325509.4
    Conserved Domains (1) summary
    smart00353
    Location:113165
    HLH; helix loop helix domain

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_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    71841542..71844496 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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