MSC musculin [Homo sapiens] - Gene

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Summary

Official Symbol: MSCprovided by HGNC
Official Full Name: musculinprovided by HGNC
Primary source: HGNC:7321
See related: Ensembl:ENSG00000178860; HPRD:04694; MIM:603628; Vega:OTTHUMG00000164489
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]

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Genomic context

Location :: 8q21

Sequence :: Chromosome: 8; NC_000008.10 (72753777..72756731, complement)

See MSC in Epigenomics, MapViewer

Chromosome 8 - NC_000008.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Observational study of gene-disease association. (HuGE Navigator)
Title: Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
ABF-1 is frequently silenced by promoter methylation in follicular lymphoma, diffuse large B-cell lymphoma and Burkitt's lymphoma.
Title: ABF-1 is frequently silenced by promoter methylation in follicular lymphoma, diffuse large B-cell lymphoma and Burkitt's lymphoma.
role in repressing lymphotoxin alpha
Title: Allele-specific repression of lymphotoxin-alpha by activated B cell factor-1.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
O60682	Q01844	EWSR1	HPRD	PubMed
O60682	Q02363	ID2	HPRD	PubMed
O60682	Q99081	TCF12	HPRD	PubMed
O60682	P15923	TCF3	HPRD	PubMed
O60682	P15884	TCF4	HPRD	PubMed
BioGRID:114669	BioGRID:108431	EWSR1	BioGRID	PubMed	Two-hybrid
BioGRID:114669	BioGRID:109624	ID2	BioGRID	PubMed	Two-hybrid
BioGRID:114669	BioGRID:112787	TCF4	BioGRID	PubMed	Two-hybrid

Function	Evidence Code	Pubs
DNA binding	IEA Inferred from Electronic Annotation more info
sequence-specific DNA binding transcription factor activity	TAS Traceable Author Statement more info	PubMed
transcription corepressor activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
branchiomeric skeletal muscle development	IEA Inferred from Electronic Annotation more info
diaphragm development	IEA Inferred from Electronic Annotation more info
palate development	IEA Inferred from Electronic Annotation more info
regulation of transcription, DNA-dependent	TAS Traceable Author Statement more info	PubMed
transcription from RNA polymerase II promoter	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
nucleus	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: musculin

Names: musculin; activated B-cell factor-1; class A basic helix-loop-helix protein 22; activated B-cell factor 1, homolog of mouse musculin

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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)

NM_005098.3 → NP_005089.2 musculin

Status: REVIEWED

Source sequence(s)

BC067827, BM685164, DB257094

Consensus CDS

CCDS43746.1

UniProtKB/Swiss-Prot

O60682

Related

ENSP00000321445, OTTHUMP00000226810, ENST00000325509, OTTHUMT00000378974

Conserved Domains (1) summary

cd00083
Location:120 – 164
Blast Score: 115

HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000008.10 Reference GRCh37.p5 Primary Assembly

Range

72753777..72756731, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000140.1 Alternate HuRef

Range

68248229..68251184, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC104012.11 (120482..123309)	None
genomic	CH471068.1	EAW86984.1
mRNA	AF060154.1	AAC15071.1
mRNA	AF087036.1	AAC69870.1
mRNA	AK313102.1	None
mRNA	BC006313.2	AAH06313.1
mRNA	BC067827.1	AAH67827.1
mRNA	BM685164.1	None
mRNA	BT007169.1	AAP35833.1
mRNA	DB257094.1	None
other-genetic	JF432718.1	ADZ15935.1