ID MASTR_HUMAN Reviewed; 415 AA. AC Q6ZN01; B7ZKX4; Q3KQU9; Q8N9Y3; DT 26-FEB-2008, integrated into UniProtKB/Swiss-Prot. DT 05-JUL-2004, sequence version 1. DT 24-JAN-2024, entry version 138. DE RecName: Full=MEF2-activating motif and SAP domain-containing transcriptional regulator; DE AltName: Full=MEF2-activating SAP transcriptional regulatory protein; GN Name=MAMSTR; Synonyms=MASTR; 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] (ISOFORMS 1 AND 2). RC TISSUE=Skeletal muscle, and Testis; RX PubMed=14702039; DOI=10.1038/ng1285; RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S., RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., RA Isogai T., Sugano S.; RT "Complete sequencing and characterization of 21,243 full-length human RT cDNAs."; RL Nat. Genet. 36:40-45(2004). RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., RA Hunkapiller M.W., Myers E.W., Venter J.C.; RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases. RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3). RC TISSUE=Brain, and Uterus; 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 [4] RP TISSUE SPECIFICITY. RX PubMed=16818234; DOI=10.1016/j.molcel.2006.05.026; RA Creemers E.E., Sutherland L.B., Oh J., Barbosa A.C., Olson E.N.; RT "Coactivation of MEF2 by the SAP domain proteins myocardin and MASTR."; RL Mol. Cell 23:83-96(2006). CC -!- FUNCTION: Transcriptional coactivator. Stimulates the transcriptional CC activity of MEF2C. Stimulates MYOD1 activity in part via MEF2, CC resulting in an enhancement of skeletal muscle differentiation (By CC similarity). {ECO:0000250}. CC -!- SUBUNIT: Interacts with MEF2C. {ECO:0000250}. CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=3; CC Name=1; CC IsoId=Q6ZN01-1; Sequence=Displayed; CC Name=2; CC IsoId=Q6ZN01-2; Sequence=VSP_031554; CC Name=3; CC IsoId=Q6ZN01-3; Sequence=VSP_031554, VSP_031555; CC -!- TISSUE SPECIFICITY: Expressed in skeletal muscle, brain, placenta and CC spleen. {ECO:0000269|PubMed:16818234}. 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; AK093389; BAC04152.1; -; mRNA. DR EMBL; AK131427; BAD18574.1; -; mRNA. DR EMBL; CH471177; EAW52390.1; -; Genomic_DNA. DR EMBL; CH471177; EAW52392.1; -; Genomic_DNA. DR EMBL; BC105056; AAI05057.1; -; mRNA. DR EMBL; BC105058; AAI05059.1; -; mRNA. DR EMBL; BC106047; AAI06048.1; -; mRNA. DR EMBL; BC143443; AAI43444.1; -; mRNA. DR CCDS; CCDS12730.1; -. [Q6ZN01-2] DR CCDS; CCDS46137.1; -. [Q6ZN01-1] DR CCDS; CCDS74415.1; -. [Q6ZN01-3] DR RefSeq; NP_001124387.1; NM_001130915.1. [Q6ZN01-1] DR RefSeq; NP_001284682.1; NM_001297753.1. [Q6ZN01-3] DR RefSeq; NP_872380.1; NM_182574.2. [Q6ZN01-2] DR RefSeq; XP_011525109.1; XM_011526807.2. [Q6ZN01-2] DR RefSeq; XP_011525111.1; XM_011526809.2. [Q6ZN01-3] DR RefSeq; XP_016882134.1; XM_017026645.1. DR AlphaFoldDB; Q6ZN01; -. DR SMR; Q6ZN01; -. DR IntAct; Q6ZN01; 1. DR STRING; 9606.ENSP00000324175; -. DR GlyGen; Q6ZN01; 1 site, 1 O-linked glycan (1 site). DR iPTMnet; Q6ZN01; -. DR PhosphoSitePlus; Q6ZN01; -. DR BioMuta; MAMSTR; -. DR DMDM; 74722919; -. DR MassIVE; Q6ZN01; -. DR PaxDb; 9606-ENSP00000324175; -. DR PeptideAtlas; Q6ZN01; -. DR ProteomicsDB; 67946; -. [Q6ZN01-1] DR ProteomicsDB; 67947; -. [Q6ZN01-2] DR Antibodypedia; 45786; 100 antibodies from 14 providers. DR DNASU; 284358; -. DR Ensembl; ENST00000318083.11; ENSP00000324175.5; ENSG00000176909.12. [Q6ZN01-1] DR Ensembl; ENST00000356751.8; ENSP00000349192.3; ENSG00000176909.12. [Q6ZN01-2] DR Ensembl; ENST00000594582.1; ENSP00000471590.1; ENSG00000176909.12. [Q6ZN01-3] DR GeneID; 284358; -. DR KEGG; hsa:284358; -. DR MANE-Select; ENST00000318083.11; ENSP00000324175.5; NM_001130915.2; NP_001124387.1. DR UCSC; uc002pkf.3; human. [Q6ZN01-1] DR AGR; HGNC:26689; -. DR CTD; 284358; -. DR DisGeNET; 284358; -. DR GeneCards; MAMSTR; -. DR HGNC; HGNC:26689; MAMSTR. DR HPA; ENSG00000176909; Group enriched (adrenal gland, skeletal muscle, tongue). DR MIM; 610349; gene. DR neXtProt; NX_Q6ZN01; -. DR OpenTargets; ENSG00000176909; -. DR PharmGKB; PA165393645; -. DR VEuPathDB; HostDB:ENSG00000176909; -. DR eggNOG; ENOG502RJE6; Eukaryota. DR GeneTree; ENSGT00940000154181; -. DR HOGENOM; CLU_055830_0_0_1; -. DR InParanoid; Q6ZN01; -. DR OMA; PKISQHW; -. DR OrthoDB; 4273628at2759; -. DR PhylomeDB; Q6ZN01; -. DR PathwayCommons; Q6ZN01; -. DR SignaLink; Q6ZN01; -. DR BioGRID-ORCS; 284358; 15 hits in 1153 CRISPR screens. DR ChiTaRS; MAMSTR; human. DR GenomeRNAi; 284358; -. DR Pharos; Q6ZN01; Tbio. DR PRO; PR:Q6ZN01; -. DR Proteomes; UP000005640; Chromosome 19. DR RNAct; Q6ZN01; Protein. DR Bgee; ENSG00000176909; Expressed in hindlimb stylopod muscle and 122 other cell types or tissues. DR ExpressionAtlas; Q6ZN01; baseline and differential. DR GO; GO:0005634; C:nucleus; IBA:GO_Central. DR GO; GO:0003712; F:transcription coregulator activity; IBA:GO_Central. DR GO; GO:0010831; P:positive regulation of myotube differentiation; IEA:Ensembl. DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IEA:Ensembl. DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central. DR Gene3D; 1.10.720.30; SAP domain; 1. DR InterPro; IPR003034; SAP_dom. DR InterPro; IPR036361; SAP_dom_sf. DR PANTHER; PTHR23251; LYSINE-RICH CEACAM1 CO-ISOLATED PROTEIN LYRIC PROTEIN; 1. DR PANTHER; PTHR23251:SF1; MEF2-ACTIVATING MOTIF AND SAP DOMAIN-CONTAINING TRANSCRIPTIONAL REGULATOR; 1. DR Pfam; PF02037; SAP; 1. DR SMART; SM00513; SAP; 1. DR SUPFAM; SSF68906; SAP domain; 1. DR PROSITE; PS50800; SAP; 1. DR Genevisible; Q6ZN01; HS. PE 2: Evidence at transcript level; KW Activator; Alternative splicing; Nucleus; Reference proteome; KW Transcription; Transcription regulation. FT CHAIN 1..415 FT /note="MEF2-activating motif and SAP domain-containing FT transcriptional regulator" FT /id="PRO_0000319981" FT DOMAIN 172..206 FT /note="SAP" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00186" FT REGION 28..56 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 70..415 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 215..415 FT /note="Transcription activation" FT /evidence="ECO:0000250" FT MOTIF 12..28 FT /note="MEF2-binding" FT /evidence="ECO:0000250" FT COMPBIAS 74..95 FT /note="Basic and acidic residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 143..163 FT /note="Pro residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 204..222 FT /note="Basic and acidic residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 257..277 FT /note="Pro residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 341..369 FT /note="Polar residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT VAR_SEQ 1..103 FT /note="Missing (in isoform 2 and isoform 3)" FT /evidence="ECO:0000303|PubMed:14702039, FT ECO:0000303|PubMed:15489334" FT /id="VSP_031554" FT VAR_SEQ 178..242 FT /note="Missing (in isoform 3)" FT /evidence="ECO:0000303|PubMed:15489334" FT /id="VSP_031555" FT CONFLICT 271 FT /note="A -> T (in Ref. 3; AAI06048)" FT /evidence="ECO:0000305" SQ SEQUENCE 415 AA; 44632 MW; 61D6E8C60DCC2DE7 CRC64; MTLAASSQRS QIIRSKFRSV LQLRIHRRNQ EQISDPDPWI SASDPPLAPA LPSGTAPFLF SPGVLLPEPE YCPPWRSPKK ESPKISQRWR ESKPRGNLTY HQYMPPEPRQ GSRADPQAEG SALGPPGPSL WEGTDSQQPH PRMKPSPLTP CPPGVPSPSP PPHKLELQTL KLEELTVSEL RQQLRLRGLP VSGTKSMLLE RMRGGAPPRE RPKPRREDSP AGAPWPRLKP KALAAARRQG SVKPSAASHR PPLPRAADTP GTAPAPTPTP APAAAPALTP SSGPGSAALT LEEELQEAIR RAQLLPNRGI DDILEDQVEP DDPLPPIPLD FPGSFDVLSP SPDSEGLSSV FSSSLPSPTN SSSPSPRDPT DSLDWLEALS GGPPLGSGPP PPSIFSADLS DSSSSRLWDL LEDPW //