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Protein

Musculin

Gene

MSC

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Transcription repressor capable of inhibiting the transactivation capability of TCF3/E47. May play a role in regulating antigen-dependent B-cell differentiation.

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDNA-binding, Repressor
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

SIGNORiO60682

Names & Taxonomyi

Protein namesi
Recommended name:
Musculin
Alternative name(s):
Activated B-cell factor 1
Short name:
ABF-1
Class A basic helix-loop-helix protein 22
Short name:
bHLHa22
Gene namesi
Name:MSC
Synonyms:ABF1, BHLHA22
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

EuPathDBiHostDB:ENSG00000178860.8
HGNCiHGNC:7321 MSC
MIMi603628 gene
neXtProtiNX_O60682

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi9242
OpenTargetsiENSG00000178860
PharmGKBiPA31130

Polymorphism and mutation databases

BioMutaiMSC

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001272831 – 206MusculinAdd BLAST206

Proteomic databases

PaxDbiO60682
PeptideAtlasiO60682
PRIDEiO60682
ProteomicsDBi49524

PTM databases

iPTMnetiO60682
PhosphoSitePlusiO60682

Expressioni

Tissue specificityi

Expressed in lymphoid tissues, B-cell lines and activated B-cells.

Gene expression databases

BgeeiENSG00000178860 Expressed in 98 organ(s), highest expression level in left coronary artery
CleanExiHS_MSC
GenevisibleiO60682 HS

Organism-specific databases

HPAiHPA062878

Interactioni

Subunit structurei

Efficient DNA binding requires dimerization with another bHLH protein. Binds DNA as a homodimer or a heterodimer. Forms a heterodimer with TCF3.

GO - Molecular functioni

Protein-protein interaction databases

BioGridi114669, 3 interactors
IntActiO60682, 6 interactors
STRINGi9606.ENSP00000321445

Structurei

3D structure databases

ProteinModelPortaliO60682
SMRiO60682
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini107 – 159bHLHPROSITE-ProRule annotationAdd BLAST53

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi71 – 76Nuclear localization signalSequence analysis6

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi48 – 57Glu-rich (acidic)10
Compositional biasi79 – 91Gly-richAdd BLAST13
Compositional biasi79 – 85Poly-Gly7
Compositional biasi88 – 91Poly-Gly4

Phylogenomic databases

eggNOGiKOG4029 Eukaryota
ENOG411227D LUCA
GeneTreeiENSGT00710000106684
HOGENOMiHOG000261670
HOVERGENiHBG105298
InParanoidiO60682
KOiK09072
OMAiEERCTLG
OrthoDBiEOG091G0N6P
PhylomeDBiO60682
TreeFamiTF350742

Family and domain databases

CDDicd00083 HLH, 1 hit
Gene3Di4.10.280.10, 1 hit
InterProiView protein in InterPro
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf
PfamiView protein in Pfam
PF00010 HLH, 1 hit
SMARTiView protein in SMART
SM00353 HLH, 1 hit
SUPFAMiSSF47459 SSF47459, 1 hit
PROSITEiView protein in PROSITE
PS50888 BHLH, 1 hit

Sequencei

Sequence statusi: Complete.

O60682-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MSTGSVSDPE EMELRGLQRE YPVPASKRPP LRGVERSYAS PSDNSSAEEE
60 70 80 90 100
DPDGEEERCA LGTAGSAEGC KRKRPRVAGG GGAGGSAGGG GKKPLPAKGS
110 120 130 140 150
AAECKQSQRN AANARERARM RVLSKAFSRL KTSLPWVPPD TKLSKLDTLR
160 170 180 190 200
LASSYIAHLR QLLQEDRYEN GYVHPVNLTW PFVVSGRPDS DTKEVSAANR

LCGTTA
Length:206
Mass (Da):22,068
Last modified:August 14, 2001 - v2
Checksum:i21066E02553EB80C
GO

Sequence cautioni

The sequence AAC15071 differs from that shown. Reason: Frameshift at position 189.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti77V → G in AAC69870 (PubMed:9767165).Curated1
Sequence conflicti189 – 191DSD → ASA (PubMed:9584154).Curated3

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF060154 mRNA Translation: AAC15071.1 Frameshift.
BT007169 mRNA Translation: AAP35833.1
CH471068 Genomic DNA Translation: EAW86984.1
BC006313 mRNA Translation: AAH06313.1
BC067827 mRNA Translation: AAH67827.1
AF087036 mRNA Translation: AAC69870.1
CCDSiCCDS43746.1
RefSeqiNP_005089.2, NM_005098.3
UniGeneiHs.442619

Genome annotation databases

EnsembliENST00000325509; ENSP00000321445; ENSG00000178860
GeneIDi9242
KEGGihsa:9242
UCSCiuc003xyx.2 human

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF060154 mRNA Translation: AAC15071.1 Frameshift.
BT007169 mRNA Translation: AAP35833.1
CH471068 Genomic DNA Translation: EAW86984.1
BC006313 mRNA Translation: AAH06313.1
BC067827 mRNA Translation: AAH67827.1
AF087036 mRNA Translation: AAC69870.1
CCDSiCCDS43746.1
RefSeqiNP_005089.2, NM_005098.3
UniGeneiHs.442619

3D structure databases

ProteinModelPortaliO60682
SMRiO60682
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114669, 3 interactors
IntActiO60682, 6 interactors
STRINGi9606.ENSP00000321445

PTM databases

iPTMnetiO60682
PhosphoSitePlusiO60682

Polymorphism and mutation databases

BioMutaiMSC

Proteomic databases

PaxDbiO60682
PeptideAtlasiO60682
PRIDEiO60682
ProteomicsDBi49524

Protocols and materials databases

DNASUi9242
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000325509; ENSP00000321445; ENSG00000178860
GeneIDi9242
KEGGihsa:9242
UCSCiuc003xyx.2 human

Organism-specific databases

CTDi9242
DisGeNETi9242
EuPathDBiHostDB:ENSG00000178860.8
GeneCardsiMSC
H-InvDBiHIX0025546
HGNCiHGNC:7321 MSC
HPAiHPA062878
MIMi603628 gene
neXtProtiNX_O60682
OpenTargetsiENSG00000178860
PharmGKBiPA31130
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4029 Eukaryota
ENOG411227D LUCA
GeneTreeiENSGT00710000106684
HOGENOMiHOG000261670
HOVERGENiHBG105298
InParanoidiO60682
KOiK09072
OMAiEERCTLG
OrthoDBiEOG091G0N6P
PhylomeDBiO60682
TreeFamiTF350742

Enzyme and pathway databases

SIGNORiO60682

Miscellaneous databases

ChiTaRSiMSC human
GeneWikiiMSC_(gene)
GenomeRNAii9242
PROiPR:O60682
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000178860 Expressed in 98 organ(s), highest expression level in left coronary artery
CleanExiHS_MSC
GenevisibleiO60682 HS

Family and domain databases

CDDicd00083 HLH, 1 hit
Gene3Di4.10.280.10, 1 hit
InterProiView protein in InterPro
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf
PfamiView protein in Pfam
PF00010 HLH, 1 hit
SMARTiView protein in SMART
SM00353 HLH, 1 hit
SUPFAMiSSF47459 SSF47459, 1 hit
PROSITEiView protein in PROSITE
PS50888 BHLH, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiMUSC_HUMAN
AccessioniPrimary (citable) accession number: O60682
Secondary accession number(s): O75946, Q53XZ2, Q9BRE7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 14, 2001
Last sequence update: August 14, 2001
Last modified: September 12, 2018
This is version 165 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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Main funding by: National Institutes of Health

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