ID MSGN1_HUMAN Reviewed; 193 AA. AC A6NI15; DT 29-APR-2008, integrated into UniProtKB/Swiss-Prot. DT 24-JUL-2007, sequence version 1. DT 24-JAN-2024, entry version 126. DE RecName: Full=Mesogenin-1; DE AltName: Full=Paraxial mesoderm-specific mesogenin1; DE AltName: Full=pMesogenin1; DE Short=pMsgn1; GN Name=MSGN1; 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 GENOMIC DNA]. RX PubMed=15815621; DOI=10.1038/nature03466; RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., RA Wilson R.K.; RT "Generation and annotation of the DNA sequences of human chromosomes 2 and RT 4."; RL Nature 434:724-731(2005). CC -!- FUNCTION: Involved in specifying the paraxial, but not dorsal, CC mesoderm. May regulate the expression of T-box transcription factors CC required for mesoderm formation and differentiation (By similarity). CC {ECO:0000250}. CC -!- INTERACTION: CC A6NI15; Q10567-3: AP1B1; NbExp=3; IntAct=EBI-11991020, EBI-11978055; CC A6NI15; A0A0C4DG94: ATP11B; NbExp=3; IntAct=EBI-11991020, EBI-11990784; CC A6NI15; Q6PJG6: BRAT1; NbExp=3; IntAct=EBI-11991020, EBI-10826195; CC A6NI15; P0C7W6: CCDC172; NbExp=3; IntAct=EBI-11991020, EBI-2548868; CC A6NI15; P78358: CTAG1B; NbExp=3; IntAct=EBI-11991020, EBI-1188472; CC A6NI15; O14645: DNALI1; NbExp=3; IntAct=EBI-11991020, EBI-395638; CC A6NI15; Q9UPT5-1: EXOC7; NbExp=3; IntAct=EBI-11991020, EBI-6251402; CC A6NI15; P54257: HAP1; NbExp=3; IntAct=EBI-11991020, EBI-712814; CC A6NI15; P41134: ID1; NbExp=5; IntAct=EBI-11991020, EBI-1215527; CC A6NI15; Q02363: ID2; NbExp=3; IntAct=EBI-11991020, EBI-713450; CC A6NI15; Q02535: ID3; NbExp=3; IntAct=EBI-11991020, EBI-1387094; CC A6NI15; P24592: IGFBP6; NbExp=3; IntAct=EBI-11991020, EBI-947015; CC A6NI15; Q13352: ITGB3BP; NbExp=3; IntAct=EBI-11991020, EBI-712105; CC A6NI15; O95751: LDOC1; NbExp=3; IntAct=EBI-11991020, EBI-740738; CC A6NI15; P43360: MAGEA6; NbExp=3; IntAct=EBI-11991020, EBI-1045155; CC A6NI15; P13349: MYF5; NbExp=3; IntAct=EBI-11991020, EBI-17491620; CC A6NI15; P24844-2: MYL9; NbExp=3; IntAct=EBI-11991020, EBI-13066228; CC A6NI15; Q7Z6G3-2: NECAB2; NbExp=3; IntAct=EBI-11991020, EBI-10172876; CC A6NI15; P0C6T2: OST4; NbExp=3; IntAct=EBI-11991020, EBI-18397963; CC A6NI15; Q9UJW9: SERTAD3; NbExp=3; IntAct=EBI-11991020, EBI-748621; CC A6NI15; Q99081-3: TCF12; NbExp=3; IntAct=EBI-11991020, EBI-11952764; CC A6NI15; P15884-3: TCF4; NbExp=3; IntAct=EBI-11991020, EBI-13636688; CC A6NI15; Q96N21: TEPSIN; NbExp=3; IntAct=EBI-11991020, EBI-11139477; CC A6NI15; Q9BXU0: TEX12; NbExp=3; IntAct=EBI-11991020, EBI-12090309; CC A6NI15; Q13077: TRAF1; NbExp=3; IntAct=EBI-11991020, EBI-359224; CC A6NI15; Q6PF05: TTC23L; NbExp=5; IntAct=EBI-11991020, EBI-8656864; CC A6NI15; Q9H0C1: ZMYND12; NbExp=5; IntAct=EBI-11991020, EBI-12030590; CC A6NI15; O95229: ZWINT; NbExp=3; IntAct=EBI-11991020, EBI-1001132; CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00981}. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; AC093731; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR CCDS; CCDS42657.1; -. DR RefSeq; NP_001099039.1; NM_001105569.1. DR AlphaFoldDB; A6NI15; -. DR SMR; A6NI15; -. DR BioGRID; 131280; 40. DR IntAct; A6NI15; 28. DR STRING; 9606.ENSP00000281047; -. DR PhosphoSitePlus; A6NI15; -. DR BioMuta; MSGN1; -. DR MassIVE; A6NI15; -. DR PaxDb; 9606-ENSP00000281047; -. DR Antibodypedia; 64308; 84 antibodies from 13 providers. DR DNASU; 343930; -. DR Ensembl; ENST00000281047.4; ENSP00000281047.3; ENSG00000151379.4. DR GeneID; 343930; -. DR KEGG; hsa:343930; -. DR MANE-Select; ENST00000281047.4; ENSP00000281047.3; NM_001105569.3; NP_001099039.1. DR UCSC; uc010yjt.3; human. DR AGR; HGNC:14907; -. DR CTD; 343930; -. DR DisGeNET; 343930; -. DR GeneCards; MSGN1; -. DR HGNC; HGNC:14907; MSGN1. DR HPA; ENSG00000151379; Tissue enriched (choroid). DR MIM; 612209; gene. DR neXtProt; NX_A6NI15; -. DR OpenTargets; ENSG00000151379; -. DR PharmGKB; PA142671315; -. DR VEuPathDB; HostDB:ENSG00000151379; -. DR eggNOG; KOG4029; Eukaryota. DR GeneTree; ENSGT00530000063712; -. DR HOGENOM; CLU_084234_1_0_1; -. DR InParanoid; A6NI15; -. DR OMA; SSWDWKN; -. DR OrthoDB; 5354298at2759; -. DR PhylomeDB; A6NI15; -. DR TreeFam; TF325707; -. DR PathwayCommons; A6NI15; -. DR Reactome; R-HSA-9793380; Formation of paraxial mesoderm. DR Reactome; R-HSA-9824272; Somitogenesis. DR SignaLink; A6NI15; -. DR BioGRID-ORCS; 343930; 3 hits in 1159 CRISPR screens. DR GenomeRNAi; 343930; -. DR Pharos; A6NI15; Tbio. DR PRO; PR:A6NI15; -. DR Proteomes; UP000005640; Chromosome 2. DR RNAct; A6NI15; Protein. DR Bgee; ENSG00000151379; Expressed in bone marrow cell and 9 other cell types or tissues. DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB. DR GO; GO:0005634; C:nucleus; IBA:GO_Central. DR GO; GO:0003682; F:chromatin binding; IEA:Ensembl. DR GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; IEA:Ensembl. 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:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL. DR GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW. DR GO; GO:0001707; P:mesoderm formation; IBA:GO_Central. DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central. DR GO; GO:0007379; P:segment specification; IEA:Ensembl. DR GO; GO:0001756; P:somitogenesis; IEA:Ensembl. DR CDD; cd18939; bHLH_TS_Msgn1; 1. DR Gene3D; 4.10.280.10; Helix-loop-helix DNA-binding domain; 1. DR InterPro; IPR011598; bHLH_dom. DR InterPro; IPR036638; HLH_DNA-bd_sf. DR InterPro; IPR040259; Mesogenin/MesP. DR PANTHER; PTHR20937; IP14615P; 1. DR PANTHER; PTHR20937:SF4; MESOGENIN-1; 1. DR Pfam; PF00010; HLH; 1. DR SMART; SM00353; HLH; 1. DR SUPFAM; SSF47459; HLH, helix-loop-helix DNA-binding domain; 1. DR PROSITE; PS50888; BHLH; 1. PE 1: Evidence at protein level; KW Developmental protein; Differentiation; DNA-binding; Nucleus; KW Reference proteome; Transcription; Transcription regulation. FT CHAIN 1..193 FT /note="Mesogenin-1" FT /id="PRO_0000330028" FT DOMAIN 124..178 FT /note="bHLH" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00981" FT REGION 34..59 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 38..59 FT /note="Polar residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT VARIANT 80 FT /note="E -> D (in dbSNP:rs34069439)" FT /id="VAR_061259" FT VARIANT 104 FT /note="H -> Y (in dbSNP:rs35858730)" FT /id="VAR_061260" SQ SEQUENCE 193 AA; 20778 MW; B57034F9C39C84B1 CRC64; MDNLRETFLS LEDGLGSSDS PGLLSSWDWK DRAGPFELNQ ASPSQSLSPA PSLESYSSSP CPAVAGLPCE HGGASSGGSE GCSVGGASGL VEVDYNMLAF QPTHLQGGGG PKAQKGTKVR MSVQRRRKAS EREKLRMRTL ADALHTLRNY LPPVYSQRGQ PLTKIQTLKY TIKYIGELTD LLNRGREPRA QSA //