MSC
Musculin
Also known as: ABF-1, bHLHa22, MUSC_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O60682
- Gene
- MSC
- Ensembl
- ENSG00000178860
- Chromosome
- 8
- Canonical length
- 206 aa
- Protein class
- Plasma proteins, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm
- Quaternary structure
- Homodimer
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
206 residues, UniProt reviewed canonical sequence.
>O60682|MSC
1 MSTGSVSDPE EMELRGLQRE YPVPASKRPP LRGVERSYAS PSDNSSAEEE DPDGEEERCA
61 LGTAGSAEGC KRKRPRVAGG GGAGGSAGGG GKKPLPAKGS AAECKQSQRN AANARERARM
121 RVLSKAFSRL KTSLPWVPPD TKLSKLDTLR LASSYIAHLR QLLQEDRYEN GYVHPVNLTW
181 PFVVSGRPDS DTKEVSAANR LCGTTALocalizationUniProt · AlphaFold · HPA
Whether an antibody against MSC can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.62
- Highest tissue expression
- 55 nTPM
Expression across tissuesHPA
Tissue
- blood vessel: 55 nTPM
- heart muscle: 20 nTPM
- urinary bladder: 19 nTPM
- placenta: 15 nTPM
- adipose tissue: 13 nTPM
- lymph node: 11 nTPM
Single-cell type
- melanocytes: 51 nCPM
- peritubular myoid cells: 36 nCPM
- myosatellite cells: 36 nCPM
- hepatic stellate cells: 32 nCPM
- leydig cells: 28 nCPM
- pericytes: 27 nCPM
Immune cell
- memory CD8 T-cell: 26 nTPM
- T-reg: 13 nTPM
- memory CD4 T-cell: 9.2 nTPM
- naive CD8 T-cell: 8.7 nTPM
- MAIT T-cell: 7.2 nTPM
- memory B-cell: 6.9 nTPM
Brain region
- hippocampal formation: 12 nTPM
- cerebral cortex: 8.9 nTPM
- medulla oblongata: 5.9 nTPM
- white matter: 5.4 nTPM
- amygdala: 4.6 nTPM
- basal ganglia: 3.1 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.39
- gnomAD pLI
- 0.02
- gnomAD missense Z
- 0.02
- DepMap mean gene effect
- -0.03
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- branchiomeric skeletal muscle development
- cardiac conduction system development
- cellular response to leukemia inhibitory factor
- diaphragm development
- regulation of DNA-templated transcription
- regulation of transcription by RNA polymerase II
- roof of mouth development
- skeletal muscle tissue development
Molecular functions
- DNA-binding transcription factor activity
- DNA-binding transcription factor activity, RNA polymerase II-specific
- DNA-binding transcription repressor activity, RNA polymerase II-specific
- protein dimerization activity
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding
- sequence-specific double-stranded DNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads MSC as an antibody target. Whether an autoantibody or antibody against MSC could matter depends on whether native MSC is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
MSC is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label MSC as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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