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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

Complete GO annotation...

Keywords - Molecular functioni

Repressor

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

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
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA31130.

Polymorphism and mutation databases

BioMutaiMSC.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 206206MusculinPRO_0000127283Add
BLAST

Proteomic databases

PaxDbiO60682.
PRIDEiO60682.

PTM databases

iPTMnetiO60682.
PhosphoSiteiO60682.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiO60682.
CleanExiHS_MSC.
GenevisibleiO60682. HS.

Organism-specific databases

HPAiHPA062893.

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.

Protein-protein interaction databases

BioGridi114669. 3 interactions.
IntActiO60682. 1 interaction.
MINTiMINT-1458979.
STRINGi9606.ENSP00000321445.

Structurei

3D structure databases

ProteinModelPortaliO60682.
SMRiO60682. Positions 107-164.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini107 – 15953bHLHPROSITE-ProRule annotationAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi71 – 766Nuclear localization signalSequence analysis

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi48 – 5710Glu-rich (acidic)
Compositional biasi79 – 9113Gly-richAdd
BLAST
Compositional biasi79 – 857Poly-Gly
Compositional biasi88 – 914Poly-Gly

Sequence similaritiesi

Contains 1 bHLH (basic helix-loop-helix) domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG4029. Eukaryota.
ENOG411227D. LUCA.
GeneTreeiENSGT00710000106684.
HOGENOMiHOG000261670.
HOVERGENiHBG105298.
InParanoidiO60682.
KOiK09072.
OMAiQRGYPVP.
OrthoDBiEOG7J181B.
PhylomeDBiO60682.
TreeFamiTF350742.

Family and domain databases

Gene3Di4.10.280.10. 1 hit.
InterProiIPR011598. bHLH_dom.
[Graphical view]
PfamiPF00010. HLH. 1 hit.
[Graphical view]
SMARTiSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMiSSF47459. SSF47459. 1 hit.
PROSITEiPS50888. BHLH. 1 hit.
[Graphical view]

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 AAC15071.1 differs from that shown. Reason: Frameshift at position 189. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti77 – 771V → G in AAC69870 (PubMed:9767165).Curated
Sequence conflicti189 – 1913DSD → ASA (PubMed:9584154).Curated

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.

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. Positions 107-164.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114669. 3 interactions.
IntActiO60682. 1 interaction.
MINTiMINT-1458979.
STRINGi9606.ENSP00000321445.

PTM databases

iPTMnetiO60682.
PhosphoSiteiO60682.

Polymorphism and mutation databases

BioMutaiMSC.

Proteomic databases

PaxDbiO60682.
PRIDEiO60682.

Protocols and materials databases

DNASUi9242.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi9242.
GeneCardsiMSC.
H-InvDBHIX0025546.
HGNCiHGNC:7321. MSC.
HPAiHPA062893.
MIMi603628. gene.
neXtProtiNX_O60682.
PharmGKBiPA31130.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4029. Eukaryota.
ENOG411227D. LUCA.
GeneTreeiENSGT00710000106684.
HOGENOMiHOG000261670.
HOVERGENiHBG105298.
InParanoidiO60682.
KOiK09072.
OMAiQRGYPVP.
OrthoDBiEOG7J181B.
PhylomeDBiO60682.
TreeFamiTF350742.

Enzyme and pathway databases

SIGNORiO60682.

Miscellaneous databases

ChiTaRSiMSC. human.
GeneWikiiMSC_(gene).
GenomeRNAii9242.
NextBioi34649.
PROiO60682.
SOURCEiSearch...

Gene expression databases

BgeeiO60682.
CleanExiHS_MSC.
GenevisibleiO60682. HS.

Family and domain databases

Gene3Di4.10.280.10. 1 hit.
InterProiIPR011598. bHLH_dom.
[Graphical view]
PfamiPF00010. HLH. 1 hit.
[Graphical view]
SMARTiSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMiSSF47459. SSF47459. 1 hit.
PROSITEiPS50888. BHLH. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Characterization of ABF-1, a novel basic helix-loop-helix transcription factor expressed in activated B lymphocytes."
    Massari M.E., Rivera R.R., Voland J.R., Quong M.W., Breit T.M., van Dongen J.J.M., de Smit O., Murre C.
    Mol. Cell. Biol. 18:3130-3139(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], CHARACTERIZATION.
    Tissue: B-cell.
  2. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
    Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
    Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Muscle and Placenta.
  5. "Musculin: a murine basic helix-loop-helix transcription factor gene expressed in embryonic skeletal muscle."
    Robb L., Hartley L., Wang C.-C., Harvey R.P., Begley C.G.
    Mech. Dev. 76:197-201(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 6-206.
    Tissue: Placenta.

Entry informationi

Entry nameiMUSC_HUMAN
AccessioniPrimary (citable) accession number: O60682
Secondary accession number(s): O75946, Q53XZ2, Q9BRE7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 14, 2001
Last sequence update: August 14, 2001
Last modified: May 11, 2016
This is version 146 of the entry and version 2 of the sequence. [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
  3. SIMILARITY comments
    Index of protein domains and families

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.