Gene: Msc

Basic information

Tag Content
Uniprot ID O88940; Q3ZAZ1;
Entrez ID 17681
Genbank protein ID AAC69869.1; AAI03594.1; AAD10053.1; AAI03593.1; AAI03624.1; AAI03595.1;
Genbank nucleotide ID NM_010827.2
Ensembl protein ID ENSMUSP00000027062
Ensembl nucleotide ID ENSMUSG00000025930
Gene name Musculin
Gene symbol Msc
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CPO
Developmental stage
Data sources Manually collected
Reference 12493912
Functional description Transcription repressor that blocks myogenesis and activation of E-box dependent muscle genes.
Sequence
MSTGSVSDPE DSEMRGLQRV YPAPASKRPP LLRMERGYGS PSDISSAEEE DGEEEPGSLG 60
AAGGCKRKRL RGADAGGAGG RAGGAGKKPL PPKGSAAECK QSQRNAANAR ERARMRVLSK 120
AFSRLKTSLP WVPPDTKLSK LDTLRLASSY IAHLRQLLQE DRYEDSYVHP VNLTWPFVVS 180
GRPDSDSKDV SAANRLCGTS A 201

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologMSC507407G3X7V5Bos taurusPredictionMore>>
1:1 orthologMSC486992E2R7N0Canis lupus familiarisPredictionMore>>
1:1 orthologMSC108637528A0A452EHD7Capra hircusPredictionMore>>
1:1 orthologMSC9242O60682Homo sapiensPredictionMore>>
1:1 orthologMsc17681O88940CPOMus musculusPublicationMore>>
1:1 orthologMSCH2R068Pan troglodytesPredictionMore>>
1:1 orthologMSC100155518F1RWI0Sus scrofaPredictionMore>>
1:1 orthologMSC100338807G1SSJ5Oryctolagus cuniculusPredictionMore>>
1:1 orthologMsc312897D3ZWP1Rattus norvegicusPredictionMore>>

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA bindingIDA
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specificIDA
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specificIMP
GO:0046983 protein dimerization activityIEA

GO:Biological Process

GO ID GO Term Evidence
GO:0000122 negative regulation of transcription by RNA polymerase IIIDA
GO:0000122 negative regulation of transcription by RNA polymerase IIIMP
GO:0014707 branchiomeric skeletal muscle developmentIGI
GO:0060021 roof of mouth developmentIGI
GO:0060539 diaphragm developmentIGI
GO:1990830 cellular response to leukemia inhibitory factorIEP

GO:Cellular Component

GO ID GO Term Evidence
GO:0005634 nucleusIDA
GO:0005654 nucleoplasmISO

Reactome Pathway

Reactome ID Reactome Term Evidence

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0238 DNA-binding
KW-0539 Nucleus
KW-1185 Reference proteome
KW-0678 Repressor
KW-0804 Transcription
KW-0805 Transcription regulation

Interpro

InterPro ID InterPro Term
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf

PROSITE

PROSITE ID PROSITE Term
PS50888 BHLH

Pfam

Pfam ID Pfam Term
PF00010 HLH