MUSC_HUMAN
ID MUSC_HUMAN Reviewed; 206 AA.
AC O60682; O75946; Q53XZ2; Q9BRE7;
DT 14-AUG-2001, integrated into UniProtKB/Swiss-Prot.
DT 14-AUG-2001, sequence version 2.
DT 03-AUG-2022, entry version 187.
DE RecName: Full=Musculin;
DE AltName: Full=Activated B-cell factor 1;
DE Short=ABF-1;
DE AltName: Full=Class A basic helix-loop-helix protein 22;
DE Short=bHLHa22;
GN Name=MSC; Synonyms=ABF1, BHLHA22;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], AND CHARACTERIZATION.
RC TISSUE=B-cell;
RX PubMed=9584154; DOI=10.1128/mcb.18.6.3130;
RA Massari M.E., Rivera R.R., Voland J.R., Quong M.W., Breit T.M.,
RA van Dongen J.J.M., de Smit O., Murre C.;
RT "Characterization of ABF-1, a novel basic helix-loop-helix transcription
RT factor expressed in activated B lymphocytes.";
RL Mol. Cell. Biol. 18:3130-3139(1998).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RA Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S.,
RA Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y.,
RA Phelan M., Farmer A.;
RT "Cloning of human full-length CDSs in BD Creator(TM) system donor vector.";
RL Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Muscle, and Placenta;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 6-206.
RC TISSUE=Placenta;
RX PubMed=9767165; DOI=10.1016/s0925-4773(98)00122-1;
RA Robb L., Hartley L., Wang C.-C., Harvey R.P., Begley C.G.;
RT "Musculin: a murine basic helix-loop-helix transcription factor gene
RT expressed in embryonic skeletal muscle.";
RL Mech. Dev. 76:197-201(1998).
CC -!- FUNCTION: Transcription repressor capable of inhibiting the
CC transactivation capability of TCF3/E47. May play a role in regulating
CC antigen-dependent B-cell differentiation.
CC -!- SUBUNIT: Efficient DNA binding requires dimerization with another bHLH
CC protein. Binds DNA as a homodimer or a heterodimer. Forms a heterodimer
CC with TCF3.
CC -!- INTERACTION:
CC O60682; Q9H8Y8: GORASP2; NbExp=5; IntAct=EBI-740310, EBI-739467;
CC O60682; Q8TBB1: LNX1; NbExp=3; IntAct=EBI-740310, EBI-739832;
CC O60682; P40425: PBX2; NbExp=3; IntAct=EBI-740310, EBI-348489;
CC O60682; Q99081-3: TCF12; NbExp=3; IntAct=EBI-740310, EBI-11952764;
CC O60682; P15884-3: TCF4; NbExp=3; IntAct=EBI-740310, EBI-13636688;
CC -!- SUBCELLULAR LOCATION: Nucleus.
CC -!- TISSUE SPECIFICITY: Expressed in lymphoid tissues, B-cell lines and
CC activated B-cells.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAC15071.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AF060154; AAC15071.1; ALT_FRAME; mRNA.
DR EMBL; BT007169; AAP35833.1; -; mRNA.
DR EMBL; CH471068; EAW86984.1; -; Genomic_DNA.
DR EMBL; BC006313; AAH06313.1; -; mRNA.
DR EMBL; BC067827; AAH67827.1; -; mRNA.
DR EMBL; AF087036; AAC69870.1; -; mRNA.
DR CCDS; CCDS43746.1; -.
DR RefSeq; NP_005089.2; NM_005098.3.
DR AlphaFoldDB; O60682; -.
DR SMR; O60682; -.
DR BioGRID; 114669; 13.
DR IntAct; O60682; 6.
DR STRING; 9606.ENSP00000321445; -.
DR iPTMnet; O60682; -.
DR PhosphoSitePlus; O60682; -.
DR BioMuta; MSC; -.
DR MassIVE; O60682; -.
DR PaxDb; O60682; -.
DR PeptideAtlas; O60682; -.
DR PRIDE; O60682; -.
DR ProteomicsDB; 49524; -.
DR Antibodypedia; 25121; 249 antibodies from 30 providers.
DR DNASU; 9242; -.
DR Ensembl; ENST00000325509.5; ENSP00000321445.4; ENSG00000178860.9.
DR GeneID; 9242; -.
DR KEGG; hsa:9242; -.
DR MANE-Select; ENST00000325509.5; ENSP00000321445.4; NM_005098.4; NP_005089.2.
DR UCSC; uc003xyx.2; human.
DR CTD; 9242; -.
DR DisGeNET; 9242; -.
DR GeneCards; MSC; -.
DR HGNC; HGNC:7321; MSC.
DR HPA; ENSG00000178860; Low tissue specificity.
DR MIM; 603628; gene.
DR neXtProt; NX_O60682; -.
DR OpenTargets; ENSG00000178860; -.
DR PharmGKB; PA31130; -.
DR VEuPathDB; HostDB:ENSG00000178860; -.
DR eggNOG; KOG4029; Eukaryota.
DR GeneTree; ENSGT00940000160438; -.
DR HOGENOM; CLU_092663_1_0_1; -.
DR InParanoid; O60682; -.
DR OMA; GGCKKKR; -.
DR OrthoDB; 1374128at2759; -.
DR PhylomeDB; O60682; -.
DR TreeFam; TF350742; -.
DR PathwayCommons; O60682; -.
DR SignaLink; O60682; -.
DR SIGNOR; O60682; -.
DR BioGRID-ORCS; 9242; 7 hits in 1088 CRISPR screens.
DR ChiTaRS; MSC; human.
DR GeneWiki; MSC_(gene); -.
DR GenomeRNAi; 9242; -.
DR Pharos; O60682; Tbio.
DR PRO; PR:O60682; -.
DR Proteomes; UP000005640; Chromosome 8.
DR RNAct; O60682; protein.
DR Bgee; ENSG00000178860; Expressed in right coronary artery and 98 other tissues.
DR Genevisible; O60682; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005634; C:nucleus; TAS:ProtInc.
DR GO; GO:0003700; F:DNA-binding transcription factor activity; TAS:GO_Central.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:0001227; F:DNA-binding transcription repressor activity, RNA polymerase II-specific; IEA:Ensembl.
DR GO; GO:0046983; F:protein dimerization activity; IEA:InterPro.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IDA:GO_Central.
DR GO; GO:0000977; F:RNA polymerase II transcription regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0014707; P:branchiomeric skeletal muscle development; IEA:Ensembl.
DR GO; GO:0003161; P:cardiac conduction system development; NAS:BHF-UCL.
DR GO; GO:1990830; P:cellular response to leukemia inhibitory factor; IEA:Ensembl.
DR GO; GO:0032502; P:developmental process; IBA:GO_Central.
DR GO; GO:0060539; P:diaphragm development; IEA:Ensembl.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0006355; P:regulation of transcription, DNA-templated; TAS:GO_Central.
DR GO; GO:0060021; P:roof of mouth development; IEA:Ensembl.
DR GO; GO:0007519; P:skeletal muscle tissue development; IBA:GO_Central.
DR Gene3D; 4.10.280.10; -; 1.
DR InterPro; IPR011598; bHLH_dom.
DR InterPro; IPR036638; HLH_DNA-bd_sf.
DR Pfam; PF00010; HLH; 1.
DR SMART; SM00353; HLH; 1.
DR SUPFAM; SSF47459; SSF47459; 1.
DR PROSITE; PS50888; BHLH; 1.
PE 1: Evidence at protein level;
KW DNA-binding; Nucleus; Reference proteome; Repressor; Transcription;
KW Transcription regulation.
FT CHAIN 1..206
FT /note="Musculin"
FT /id="PRO_0000127283"
FT DOMAIN 107..159
FT /note="bHLH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00981"
FT REGION 1..115
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 71..76
FT /note="Nuclear localization signal"
FT /evidence="ECO:0000255"
FT CONFLICT 77
FT /note="V -> G (in Ref. 5; AAC69870)"
FT /evidence="ECO:0000305"
FT CONFLICT 189..191
FT /note="DSD -> ASA (in Ref. 1)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 206 AA; 22068 MW; 21066E02553EB80C CRC64;
MSTGSVSDPE EMELRGLQRE YPVPASKRPP LRGVERSYAS PSDNSSAEEE DPDGEEERCA
LGTAGSAEGC KRKRPRVAGG GGAGGSAGGG GKKPLPAKGS AAECKQSQRN AANARERARM
RVLSKAFSRL KTSLPWVPPD TKLSKLDTLR LASSYIAHLR QLLQEDRYEN GYVHPVNLTW
PFVVSGRPDS DTKEVSAANR LCGTTA
