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Protein

Musculin

Gene

MSC

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDNA-binding, Repressor
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

More...
SIGNORi
O60682

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:MSC
Synonyms:ABF1, BHLHA22
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 8

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000178860.8

Human Gene Nomenclature Database

More...
HGNCi
HGNC:7321 MSC

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
603628 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O60682

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...
DisGeNETi
9242

Open Targets

More...
OpenTargetsi
ENSG00000178860

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA31130

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
MSC

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001272831 – 206MusculinAdd BLAST206

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
O60682

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
O60682

PeptideAtlas

More...
PeptideAtlasi
O60682

PRoteomics IDEntifications database

More...
PRIDEi
O60682

ProteomicsDB human proteome resource

More...
ProteomicsDBi
49524

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O60682

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
O60682

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000178860 Expressed in 98 organ(s), highest expression level in left coronary artery

CleanEx database of gene expression profiles

More...
CleanExi
HS_MSC

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
O60682 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA062878

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
114669, 3 interactors

Protein interaction database and analysis system

More...
IntActi
O60682, 6 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000321445

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
O60682

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
O60682

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini107 – 159bHLHPROSITE-ProRule annotationAdd BLAST53

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi71 – 76Nuclear localization signalSequence analysis6

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi48 – 57Glu-rich (acidic)10
Compositional biasi79 – 91Gly-richAdd BLAST13
Compositional biasi79 – 85Poly-Gly7
Compositional biasi88 – 91Poly-Gly4

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG4029 Eukaryota
ENOG411227D LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000160438

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000261670

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG105298

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
O60682

KEGG Orthology (KO)

More...
KOi
K09072

Identification of Orthologs from Complete Genome Data

More...
OMAi
EERCTLG

Database of Orthologous Groups

More...
OrthoDBi
1374128at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
O60682

TreeFam database of animal gene trees

More...
TreeFami
TF350742

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00083 HLH, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
4.10.280.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00010 HLH, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00353 HLH, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF47459 SSF47459, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50888 BHLH, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i21066E02553EB80C
GO

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti77V → G in AAC69870 (PubMed:9767165).Curated1
Sequence conflicti189 – 191DSD → ASA (PubMed:9584154).Curated3

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS43746.1

NCBI Reference Sequences

More...
RefSeqi
NP_005089.2, NM_005098.3

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.442619

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000325509; ENSP00000321445; ENSG00000178860

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
9242

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:9242

UCSC genome browser

More...
UCSCi
uc003xyx.2 human

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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

jPOSTiO60682
PaxDbiO60682
PeptideAtlasiO60682
PRIDEiO60682
ProteomicsDBi49524

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
9242
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
9242
DisGeNETi9242
EuPathDBiHostDB:ENSG00000178860.8

GeneCards: human genes, protein and diseases

More...
GeneCardsi
MSC

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0025546
HGNCiHGNC:7321 MSC
HPAiHPA062878
MIMi603628 gene
neXtProtiNX_O60682
OpenTargetsiENSG00000178860
PharmGKBiPA31130

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4029 Eukaryota
ENOG411227D LUCA
GeneTreeiENSGT00940000160438
HOGENOMiHOG000261670
HOVERGENiHBG105298
InParanoidiO60682
KOiK09072
OMAiEERCTLG
OrthoDBi1374128at2759
PhylomeDBiO60682
TreeFamiTF350742

Enzyme and pathway databases

SIGNORiO60682

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
MSC human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
MSC_(gene)

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
9242

Protein Ontology

More...
PROi
PR:O60682

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

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

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiMUSC_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O60682
Secondary accession number(s): O75946, Q53XZ2, Q9BRE7
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 14, 2001
Last sequence update: August 14, 2001
Last modified: January 16, 2019
This is version 168 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>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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