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Mesoderm posterior protein 1 (Class C basic helix-loop-helix protein 5) (bHLHc5)

 MESP1_HUMAN             Reviewed;         268 AA.
Q9BRJ9; Q9NSF1; Q9NSF2;
11-SEP-2007, integrated into UniProtKB/Swiss-Prot.
01-JUN-2001, sequence version 1.
20-JUN-2018, entry version 121.
RecName: Full=Mesoderm posterior protein 1;
AltName: Full=Class C basic helix-loop-helix protein 5;
Short=bHLHc5;
Name=MESP1; Synonyms=BHLHC5;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Lung;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 124-268.
The European IMAGE consortium;
Submitted (JUL-2000) to the EMBL/GenBank/DDBJ databases.
[3]
REPEATS.
PubMed=15122512; DOI=10.1086/421053;
Whittock N.V., Sparrow D.B., Wouters M.A., Sillence D., Ellard S.,
Dunwoodie S.L., Turnpenny P.D.;
"Mutated MESP2 causes spondylocostal dysostosis in humans.";
Am. J. Hum. Genet. 74:1249-1254(2004).
-!- FUNCTION: Transcription factor. Plays a role in the
epithelialization of somitic mesoderm and in the development of
cardiac mesoderm. Defines the rostrocaudal patterning of the
somites by participating in distinct Notch pathways (By
similarity). {ECO:0000250}.
-!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
-!- MISCELLANEOUS: The N- and C-terminal domains are separated by a 2-
repeat G-Q region.
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EMBL; BC006219; AAH06219.1; -; mRNA.
EMBL; AL357533; CAB93425.1; -; mRNA.
EMBL; AL357534; CAB93426.1; -; mRNA.
CCDS; CCDS10355.1; -.
RefSeq; NP_061140.1; NM_018670.3.
UniGene; Hs.447531; -.
ProteinModelPortal; Q9BRJ9; -.
SMR; Q9BRJ9; -.
STRING; 9606.ENSP00000300057; -.
iPTMnet; Q9BRJ9; -.
PhosphoSitePlus; Q9BRJ9; -.
BioMuta; MESP1; -.
DMDM; 74732894; -.
PaxDb; Q9BRJ9; -.
PeptideAtlas; Q9BRJ9; -.
PRIDE; Q9BRJ9; -.
ProteomicsDB; 78773; -.
DNASU; 55897; -.
Ensembl; ENST00000300057; ENSP00000300057; ENSG00000166823.
GeneID; 55897; -.
KEGG; hsa:55897; -.
UCSC; uc002bol.4; human.
CTD; 55897; -.
DisGeNET; 55897; -.
EuPathDB; HostDB:ENSG00000166823.5; -.
GeneCards; MESP1; -.
HGNC; HGNC:29658; MESP1.
HPA; HPA069981; -.
MIM; 608689; gene.
neXtProt; NX_Q9BRJ9; -.
OpenTargets; ENSG00000166823; -.
PharmGKB; PA142671468; -.
eggNOG; KOG4029; Eukaryota.
eggNOG; ENOG411227D; LUCA.
GeneTree; ENSGT00530000063712; -.
HOGENOM; HOG000113566; -.
HOVERGEN; HBG094949; -.
InParanoid; Q9BRJ9; -.
KO; K09076; -.
OMA; LETWMPL; -.
OrthoDB; EOG091G0LDC; -.
PhylomeDB; Q9BRJ9; -.
TreeFam; TF325707; -.
GenomeRNAi; 55897; -.
PRO; PR:Q9BRJ9; -.
Proteomes; UP000005640; Chromosome 15.
Bgee; ENSG00000166823; -.
CleanEx; HS_MESP1; -.
Genevisible; Q9BRJ9; HS.
GO; GO:0005634; C:nucleus; IBA:GO_Central.
GO; GO:0003700; F:DNA binding transcription factor activity; IDA:BHF-UCL.
GO; GO:0035326; F:enhancer binding; IEA:Ensembl.
GO; GO:0046983; F:protein dimerization activity; IEA:InterPro.
GO; GO:0000978; F:RNA polymerase II proximal promoter sequence-specific DNA binding; IBA:GO_Central.
GO; GO:0000981; F:RNA polymerase II transcription factor activity, sequence-specific DNA binding; ISA:NTNU_SB.
GO; GO:0044212; F:transcription regulatory region DNA binding; IDA:BHF-UCL.
GO; GO:0001077; F:transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding; IBA:GO_Central.
GO; GO:0003210; P:cardiac atrium formation; IMP:BHF-UCL.
GO; GO:0060913; P:cardiac cell fate determination; ISS:BHF-UCL.
GO; GO:0055007; P:cardiac muscle cell differentiation; IMP:BHF-UCL.
GO; GO:0060947; P:cardiac vascular smooth muscle cell differentiation; IMP:BHF-UCL.
GO; GO:0003211; P:cardiac ventricle formation; IMP:BHF-UCL.
GO; GO:0003259; P:cardioblast anterior-lateral migration; ISS:BHF-UCL.
GO; GO:0060975; P:cardioblast migration to the midline involved in heart field formation; ISS:BHF-UCL.
GO; GO:0003143; P:embryonic heart tube morphogenesis; ISS:BHF-UCL.
GO; GO:0009880; P:embryonic pattern specification; IBA:GO_Central.
GO; GO:0045446; P:endothelial cell differentiation; IMP:BHF-UCL.
GO; GO:0007369; P:gastrulation; ISS:BHF-UCL.
GO; GO:0003241; P:growth involved in heart morphogenesis; ISS:BHF-UCL.
GO; GO:0001947; P:heart looping; ISS:BHF-UCL.
GO; GO:0048368; P:lateral mesoderm development; ISS:BHF-UCL.
GO; GO:0001707; P:mesoderm formation; IBA:GO_Central.
GO; GO:0008078; P:mesodermal cell migration; IEA:Ensembl.
GO; GO:0042664; P:negative regulation of endodermal cell fate specification; ISS:BHF-UCL.
GO; GO:0042662; P:negative regulation of mesodermal cell fate specification; ISS:BHF-UCL.
GO; GO:0045892; P:negative regulation of transcription, DNA-templated; ISS:BHF-UCL.
GO; GO:0022008; P:neurogenesis; IMP:BHF-UCL.
GO; GO:0007219; P:Notch signaling pathway; IEA:UniProtKB-KW.
GO; GO:0090082; P:positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway; ISS:BHF-UCL.
GO; GO:0070368; P:positive regulation of hepatocyte differentiation; ISS:BHF-UCL.
GO; GO:0045747; P:positive regulation of Notch signaling pathway; ISS:BHF-UCL.
GO; GO:0035481; P:positive regulation of Notch signaling pathway involved in heart induction; IEA:Ensembl.
GO; GO:0051155; P:positive regulation of striated muscle cell differentiation; ISS:BHF-UCL.
GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IDA:BHF-UCL.
GO; GO:0045893; P:positive regulation of transcription, DNA-templated; ISS:BHF-UCL.
GO; GO:0003139; P:secondary heart field specification; ISS:BHF-UCL.
GO; GO:0023019; P:signal transduction involved in regulation of gene expression; IEA:Ensembl.
GO; GO:0060921; P:sinoatrial node cell differentiation; IMP:BHF-UCL.
GO; GO:0003236; P:sinus venosus morphogenesis; ISS:BHF-UCL.
GO; GO:0001756; P:somitogenesis; IBA:GO_Central.
CDD; cd00083; HLH; 1.
Gene3D; 4.10.280.10; -; 1.
InterPro; IPR011598; bHLH_dom.
InterPro; IPR036638; HLH_DNA-bd_sf.
Pfam; PF00010; HLH; 1.
SMART; SM00353; HLH; 1.
SUPFAM; SSF47459; SSF47459; 1.
PROSITE; PS50888; BHLH; 1.
2: Evidence at transcript level;
Complete proteome; Developmental protein; DNA-binding;
Notch signaling pathway; Nucleus; Polymorphism; Reference proteome;
Repeat; Transcription; Transcription regulation.
CHAIN 1 268 Mesoderm posterior protein 1.
/FTId=PRO_0000304404.
DOMAIN 82 136 bHLH. {ECO:0000255|PROSITE-
ProRule:PRU00981}.
REPEAT 182 183 1. {ECO:0000269|PubMed:15122512}.
REPEAT 184 185 2. {ECO:0000269|PubMed:15122512}.
REGION 182 185 2 X 2 AA tandem repeats of G-Q.
MOTIF 163 167 CPLCP.
VARIANT 53 53 A -> P (in dbSNP:rs6496598).
/FTId=VAR_035021.
CONFLICT 223 223 F -> L (in Ref. 2; CAB93425/CAB93426).
{ECO:0000305}.
SEQUENCE 268 AA; 28501 MW; 50508D4AF6EA7CE2 CRC64;
MAQPLCPPLS ESWMLSAAWG PTRRPPPSDK DCGRSLVSSP DSWGSTPADS PVASPARPGT
LRDPRAPSVG RRGARSSRLG SGQRQSASER EKLRMRTLAR ALHELRRFLP PSVAPAGQSL
TKIETLRLAI RYIGHLSAVL GLSEESLQRR CRQRGDAGSP RGCPLCPDDC PAQMQTRTQA
EGQGQGRGLG LVSAVRAGAS WGSPPACPGA RAAPEPRDPP ALFAEAACPE GQAMEPSPPS
PLLPGDVLAL LETWMPLSPL EWLPEEPK


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