MSC (gene)

MSC
Identifiers
Aliases	MSC, ABF-1, ABF1, MYOR, bHLHa22, musculin
External IDs	OMIM: 603628; MGI: 1333884; HomoloGene: 3738; GeneCards: MSC; OMA:MSC - orthologs
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 14,823,570 bp[2] End 14,826,216 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right coronary artery left coronary artery thoracic aorta ascending aorta Descending thoracic aorta testicle stromal cell of endometrium gallbladder apex of heart tibial arteries Top expressed in mesenteric lymph nodes morula blastocyst internal carotid artery embryo embryo thymus optic nerve Gonadal ridge spleen More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA-binding transcription factor activity RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA binding DNA-binding transcription repressor activity, RNA polymerase II-specific protein dimerization activity transcription corepressor activity 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: 14.82 – 14.83 Mb PubMed search [3] [4]
Wikidata
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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]

• 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.

This article on a gene on human chromosome 8 is a stub. You can help Wikipedia by expanding it.

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