MESP1_HUMAN
ID MESP1_HUMAN Reviewed; 268 AA.
AC Q9BRJ9; Q9NSF1; Q9NSF2;
DT 11-SEP-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2001, sequence version 1.
DT 03-AUG-2022, entry version 143.
DE RecName: Full=Mesoderm posterior protein 1;
DE AltName: Full=Class C basic helix-loop-helix protein 5;
DE Short=bHLHc5;
GN Name=MESP1; Synonyms=BHLHC5;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Lung;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 124-268.
RG The European IMAGE consortium;
RL Submitted (JUL-2000) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP REPEATS.
RX PubMed=15122512; DOI=10.1086/421053;
RA Whittock N.V., Sparrow D.B., Wouters M.A., Sillence D., Ellard S.,
RA Dunwoodie S.L., Turnpenny P.D.;
RT "Mutated MESP2 causes spondylocostal dysostosis in humans.";
RL Am. J. Hum. Genet. 74:1249-1254(2004).
CC -!- FUNCTION: Transcription factor. Plays a role in the epithelialization
CC of somitic mesoderm and in the development of cardiac mesoderm. Defines
CC the rostrocaudal patterning of the somites by participating in distinct
CC Notch pathways (By similarity). {ECO:0000250}.
CC -!- INTERACTION:
CC Q9BRJ9; Q7Z699: SPRED1; NbExp=3; IntAct=EBI-21944954, EBI-5235340;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- MISCELLANEOUS: The N- and C-terminal domains are separated by a 2-
CC repeat G-Q region.
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DR EMBL; BC006219; AAH06219.1; -; mRNA.
DR EMBL; AL357533; CAB93425.1; -; mRNA.
DR EMBL; AL357534; CAB93426.1; -; mRNA.
DR CCDS; CCDS10355.1; -.
DR RefSeq; NP_061140.1; NM_018670.3.
DR AlphaFoldDB; Q9BRJ9; -.
DR SMR; Q9BRJ9; -.
DR IntAct; Q9BRJ9; 3.
DR STRING; 9606.ENSP00000300057; -.
DR iPTMnet; Q9BRJ9; -.
DR PhosphoSitePlus; Q9BRJ9; -.
DR BioMuta; MESP1; -.
DR DMDM; 74732894; -.
DR PaxDb; Q9BRJ9; -.
DR PeptideAtlas; Q9BRJ9; -.
DR PRIDE; Q9BRJ9; -.
DR Antibodypedia; 28662; 328 antibodies from 31 providers.
DR DNASU; 55897; -.
DR Ensembl; ENST00000300057.5; ENSP00000300057.4; ENSG00000166823.6.
DR GeneID; 55897; -.
DR KEGG; hsa:55897; -.
DR MANE-Select; ENST00000300057.5; ENSP00000300057.4; NM_018670.4; NP_061140.1.
DR UCSC; uc002bol.4; human.
DR CTD; 55897; -.
DR DisGeNET; 55897; -.
DR GeneCards; MESP1; -.
DR HGNC; HGNC:29658; MESP1.
DR HPA; ENSG00000166823; Tissue enhanced (adipose tissue, prostate, skeletal muscle).
DR MIM; 608689; gene.
DR neXtProt; NX_Q9BRJ9; -.
DR OpenTargets; ENSG00000166823; -.
DR PharmGKB; PA142671468; -.
DR VEuPathDB; HostDB:ENSG00000166823; -.
DR eggNOG; KOG4029; Eukaryota.
DR GeneTree; ENSGT00530000063712; -.
DR HOGENOM; CLU_064749_1_0_1; -.
DR InParanoid; Q9BRJ9; -.
DR OMA; PLSESWM; -.
DR OrthoDB; 1072866at2759; -.
DR PhylomeDB; Q9BRJ9; -.
DR TreeFam; TF325707; -.
DR PathwayCommons; Q9BRJ9; -.
DR SignaLink; Q9BRJ9; -.
DR BioGRID-ORCS; 55897; 14 hits in 1092 CRISPR screens.
DR ChiTaRS; MESP1; human.
DR GenomeRNAi; 55897; -.
DR Pharos; Q9BRJ9; Tbio.
DR PRO; PR:Q9BRJ9; -.
DR Proteomes; UP000005640; Chromosome 15.
DR RNAct; Q9BRJ9; protein.
DR Bgee; ENSG00000166823; Expressed in mucosa of transverse colon and 135 other tissues.
DR Genevisible; Q9BRJ9; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; IEA:Ensembl.
DR GO; GO:0003700; F:DNA-binding transcription factor activity; IDA:BHF-UCL.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:0046983; F:protein dimerization activity; IEA:InterPro.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0000976; F:transcription cis-regulatory region binding; IDA:BHF-UCL.
DR GO; GO:0003210; P:cardiac atrium formation; IMP:BHF-UCL.
DR GO; GO:0060913; P:cardiac cell fate determination; ISS:BHF-UCL.
DR GO; GO:0055007; P:cardiac muscle cell differentiation; IMP:BHF-UCL.
DR GO; GO:0060947; P:cardiac vascular smooth muscle cell differentiation; IMP:BHF-UCL.
DR GO; GO:0003211; P:cardiac ventricle formation; IMP:BHF-UCL.
DR GO; GO:0003259; P:cardioblast anterior-lateral migration; ISS:BHF-UCL.
DR GO; GO:0060975; P:cardioblast migration to the midline involved in heart field formation; ISS:BHF-UCL.
DR GO; GO:0003143; P:embryonic heart tube morphogenesis; ISS:BHF-UCL.
DR GO; GO:0045446; P:endothelial cell differentiation; IMP:BHF-UCL.
DR GO; GO:0007369; P:gastrulation; ISS:BHF-UCL.
DR GO; GO:0010467; P:gene expression; IEA:Ensembl.
DR GO; GO:0003241; P:growth involved in heart morphogenesis; ISS:BHF-UCL.
DR GO; GO:0001947; P:heart looping; ISS:BHF-UCL.
DR GO; GO:0003007; P:heart morphogenesis; IBA:GO_Central.
DR GO; GO:0048368; P:lateral mesoderm development; ISS:BHF-UCL.
DR GO; GO:0001707; P:mesoderm formation; IBA:GO_Central.
DR GO; GO:0008078; P:mesodermal cell migration; IEA:Ensembl.
DR GO; GO:0042664; P:negative regulation of endodermal cell fate specification; ISS:BHF-UCL.
DR GO; GO:0042662; P:negative regulation of mesodermal cell fate specification; ISS:BHF-UCL.
DR GO; GO:0045892; P:negative regulation of transcription, DNA-templated; ISS:BHF-UCL.
DR GO; GO:0022008; P:neurogenesis; IMP:BHF-UCL.
DR GO; GO:0007219; P:Notch signaling pathway; IEA:UniProtKB-KW.
DR GO; GO:0090082; P:positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway; ISS:BHF-UCL.
DR GO; GO:0070368; P:positive regulation of hepatocyte differentiation; ISS:BHF-UCL.
DR GO; GO:0045747; P:positive regulation of Notch signaling pathway; ISS:BHF-UCL.
DR GO; GO:0035481; P:positive regulation of Notch signaling pathway involved in heart induction; IEA:Ensembl.
DR GO; GO:0051155; P:positive regulation of striated muscle cell differentiation; ISS:BHF-UCL.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IDA:BHF-UCL.
DR GO; GO:0045893; P:positive regulation of transcription, DNA-templated; ISS:BHF-UCL.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0003139; P:secondary heart field specification; ISS:BHF-UCL.
DR GO; GO:0023019; P:signal transduction involved in regulation of gene expression; IEA:Ensembl.
DR GO; GO:0060921; P:sinoatrial node cell differentiation; IMP:BHF-UCL.
DR GO; GO:0003236; P:sinus venosus morphogenesis; ISS:BHF-UCL.
DR GO; GO:0032525; P:somite rostral/caudal axis specification; IBA:GO_Central.
DR Gene3D; 4.10.280.10; -; 1.
DR InterPro; IPR011598; bHLH_dom.
DR InterPro; IPR036638; HLH_DNA-bd_sf.
DR InterPro; IPR040259; Mesogenin/MesP.
DR PANTHER; PTHR20937; PTHR20937; 1.
DR Pfam; PF00010; HLH; 1.
DR SMART; SM00353; HLH; 1.
DR SUPFAM; SSF47459; SSF47459; 1.
DR PROSITE; PS50888; BHLH; 1.
PE 1: Evidence at protein level;
KW Developmental protein; DNA-binding; Notch signaling pathway; Nucleus;
KW Reference proteome; Repeat; Transcription; Transcription regulation.
FT CHAIN 1..268
FT /note="Mesoderm posterior protein 1"
FT /id="PRO_0000304404"
FT DOMAIN 82..136
FT /note="bHLH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00981"
FT REPEAT 182..183
FT /note="1"
FT /evidence="ECO:0000269|PubMed:15122512"
FT REPEAT 184..185
FT /note="2"
FT /evidence="ECO:0000269|PubMed:15122512"
FT REGION 17..93
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 182..185
FT /note="2 X 2 AA tandem repeats of G-Q"
FT MOTIF 163..167
FT /note="CPLCP"
FT VARIANT 53
FT /note="A -> P (in dbSNP:rs6496598)"
FT /id="VAR_035021"
FT CONFLICT 223
FT /note="F -> L (in Ref. 2; CAB93425/CAB93426)"
FT /evidence="ECO:0000305"
SQ 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
