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Protein

Musculin

Gene

MSC

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

HGNCiHGNC:7321. MSC.

Subcellular locationi

GO - Cellular componenti

  • nucleoplasm Source: HPA
  • nucleus Source: ProtInc

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.

PTM databases

iPTMnetiO60682.
PhosphoSitePlusiO60682.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000178860.
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. 7 interactors.
MINTiMINT-1458979.
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.
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

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.

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: June 7, 2017
This is version 155 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