MSC (gene)

MSC
Identifiers
Aliases	MSC , ABF-1, ABF1, MYOR, bHLHa22, musculin
External IDs	OMIM: 603628 MGI: 1333884 HomoloGene: 3738 GeneCards: MSC
Gene location (Human) Chr. Chromosome 8 (human) [1] Band 8q13.3 Start 71,841,560 bp [1] End 71,844,412 bp [1]
Gene location (Mouse) Chr. Chromosome 1 (mouse) [2] Band 1 A3|1 4.5 cM Start 14,753,346 bp [2] End 14,755,992 bp [2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity • GO:0000980 RNA polymerase II cis-regulatory region sequence-specific DNA binding • DNA binding • GO:0001078, GO:0001214, GO:0001206 DNA-binding transcription repressor activity, RNA polymerase II-specific • protein dimerization activity • GO:0001106 transcription corepressor activity • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component • nucleus • nucleoplasm Biological process • roof of mouth development • regulation of transcription, DNA-templated • negative regulation of transcription by RNA polymerase II • transcription by RNA polymerase II • branchiomeric skeletal muscle development • transcription, DNA-templated • diaphragm development • cellular response to leukemia inhibitory factor Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	9242	17681
Ensembl	ENSG00000178860	ENSMUSG00000025930
UniProt	O60682	O88940
RefSeq (mRNA)	NM_005098	NM_010827 NM_001360810
RefSeq (protein)	NP_005089	NP_034957 NP_001347739
Location (UCSC)	Chr 8: 71.84 – 71.84 Mb	Chr 1: 14.75 – 14.76 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Musculin is a protein that in humans is encoded by the MSC gene. ^{[5] [6] [7]}

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. ^[7]

References

1. GRCh38: Ensembl release 89: ENSG00000178860 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000025930 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Massari ME, Rivera RR, Voland JR, Quong MW, Breit TM, van Dongen JJ, de Smit O, Murre C (Jun 1998). "Characterization of ABF-1, a Novel Basic Helix-Loop-Helix Transcription Factor Expressed in Activated B Lymphocytes". Mol Cell Biol. 18 (6): 3130–9. doi:10.1128/mcb.18.6.3130. PMC   108895 . PMID   9584154.
6. Robb L, Brodnicki T, Copeland NG, Gilbert DJ, Jenkins NA, Harvey RP (May 1999). "Assignment of the human helix-loop-helix transcription factor gene musculin/activated B-cell factor-1 (MSC) to chromosome 8q21 and its mouse homologue (Msc) to the proximal region of chromosome 1". Genomics. 57 (2): 318–9. doi:10.1006/geno.1999.5764. PMID   10198176.
7. "Entrez Gene: MSC musculin (activated B-cell factor-1)".

Further reading

• Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi: 10.1101/gr.6.9.791 . PMID   8889548.
• Robb L, Hartley L, Wang CC, et al. (1998). "musculin: a murine basic helix-loop-helix transcription factor gene expressed in embryonic skeletal muscle". Mech. Dev. 76 (1–2): 197–201. doi:10.1016/S0925-4773(98)00122-1. PMID   9767165. S2CID   780834.
• Wong J, Funes-Duran M, Ahlberg J, et al. (2001). "Characterization of a basic helix-loop-helix protein, ABF-1: nuclear localization, transcriptional properties, and interaction with Id-2". DNA Cell Biol. 20 (8): 465–71. doi:10.1089/104454901316976091. PMID   11560778.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC   139241 . PMID   12477932.
• Knight JC, Keating BJ, Kwiatkowski DP (2004). "Allele-specific repression of lymphotoxin-alpha by activated B cell factor-1". Nat. Genet. 36 (4): 394–9. doi: 10.1038/ng1331 . PMID   15052269.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID   16189514. S2CID   4427026.
• Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC   1356129 . PMID   16344560.