1. Gene
  2. MSC - musculin Gene

MSC - musculin Gene

Homo sapiens

Also known as ABF1; MYOR; ABF-1; bHLHa22

Gene ID: 9242 | Gene type: protein coding

About MSC

Cytogenetic location: 8q13.3 Genomic coordinates (GRCh38): 8:71,841,560-71,844,412 (from NCBI)

This gene has 3 transcripts (splice variants), 214 orthologues and 13 paralogues. Broad expression in placenta (RPKM 12.2), gall bladder (RPKM 7.2) and 23 other tissues.

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]

MSC Products(1)

mRNA Protein Name
NM_005098.4 NP_005089.2 musculin
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference Source
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
IDA: Inferred from direct assay
9584154 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: Inferred from direct assay
28473536 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MSC Protein Structure

HLH

HLH: Helix-loop-helix DNA-binding domain (108 - 160)

  • 0
  • 100
  • 206 a.a.
Protein Preferred Names Protein Names

musculin

activated B-cell factor 1, homolog of mouse musculin

Related Diseases

Diseases Alias
Ichthyosis, Congenital, Autosomal Recessive 3

Autosomal Recessive Congenital Ichthyosis 3

ARCI3

Lamellar Ichthyosis 5

Collodion Baby, Self-Healing

Ichthyosis, Lamellar, 5, Formerly

Li5, Formerly

Li5

Self-Healing Collodion Baby

Ichthyosis, Congenital, Autosomal Recessive, Type 3

Rhabdomyosarcoma
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris MSC VGNC VGNC:43436
Rattus norvegicus MSC RGD RGD:1305496
Bos taurus MSC VGNC VGNC:31691
Macaca mulatta MSC VGNC VGNC:74930
Mus musculus MSC MGD MGI:1333884
Others MSC NCBI