ID MEF2C_HUMAN STANDARD; PRT; 473 AA. AC Q06413; DT 01-NOV-1997 (Rel. 35, Created) DT 01-NOV-1997 (Rel. 35, Last sequence update) DT 07-FEB-2006 (Rel. 49, Last annotation update) DE Myocyte-specific enhancer factor 2C. GN Name=MEF2C; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Catarrhini; Hominidae; OC Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3). RC TISSUE=Fetal brain, and Muscle; RX MEDLINE=93165732; PubMed=7679508; RA Leifer D., Krainc D., Yu Y.-T., McDermott J., Breitbart R.E., Heng J., RA Neve R.L., Kosofsky B., Nadal-Ginard B., Lipton S.A.; RT "MEF2C, a MADS/MEF2-family transcription factor expressed in a laminar RT distribution in cerebral cortex."; RL Proc. Natl. Acad. Sci. U.S.A. 90:1546-1550(1993). RN [2] RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2). RC TISSUE=Skeletal muscle; RX MEDLINE=93205002; PubMed=8455629; RA McDermott J.C., Cardoso M.C., Yu Y.-T., Andres V., Leifer D., RA Krainc D., Lipton S.A., Nadal-Ginard B.; RT "hMEF2C gene encodes skeletal muscle- and brain-specific transcription RT factors."; RL Mol. Cell. Biol. 13:2564-2577(1993). RN [3] RP INTERACTION WITH HDAC4. RX MEDLINE=99455038; PubMed=10523670; RA Wang A.H., Bertos N.R., Vezmar M., Pelletier N., Crosato M., RA Heng H.H., Th'ng J., Han J., Yang X.-J.; RT "HDAC4, a human histone deacetylase related to yeast HDA1, is a RT transcriptional corepressor."; RL Mol. Cell. Biol. 19:7816-7827(1999). RN [4] RP PHOSPHORYLATION SITE SER-396, MASS SPECTROMETRY, MUTAGENESIS OF RP SER-396, AND FUNCTION OF ISOFORMS. RX PubMed=15340086; DOI=10.1128/MCB.24.18.8264-8275.2004; RA Zhu B., Gulick T.; RT "Phosphorylation and alternative pre-mRNA splicing converge to RT regulate myocyte enhancer factor 2C activity."; RL Mol. Cell. Biol. 24:8264-8275(2004). CC -!- FUNCTION: Transcription activator which binds specifically to the CC MEF2 element present in the regulatory regions of many muscle- CC specific genes. Controls cardiac morphogenesis and myogenesis, and CC is also involved in vascular development. May also be involved in CC neurogenesis and in the development of cortical architecture (By CC similarity). Isoform 3 and isoform 4, which lack the repressor CC domain, are more active than isoform 1 and isoform 2. CC -!- SUBUNIT: Interacts with HDAC7 and CARM1 (By similarity). Interacts CC with HDAC4. CC -!- SUBCELLULAR LOCATION: Nuclear. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=3; CC Comment=Additional isoforms seem to exist; CC Name=1; CC IsoId=Q06413-1; Sequence=Displayed; CC Name=2; Synonyms=Muscle; CC IsoId=Q06413-2; Sequence=VSP_006248; CC Name=3; Synonyms=hMEF2C-delta32, Brain; CC IsoId=Q06413-3; Sequence=VSP_006249; CC -!- TISSUE SPECIFICITY: Expressed in brain and skeletal muscle. CC -!- DEVELOPMENTAL STAGE: Expression is highest during the early stages CC of postnatal development, at later stages levels greatly decrease. CC -!- PTM: Ser-59 phosphorylation enhances DNA binding activity (By CC similarity). Ser-396 phosphorylation represses transcriptional CC activity. CC -!- SIMILARITY: Belongs to the MEF2 family. CC -!- SIMILARITY: Contains 1 MADS-box domain. CC -!- SIMILARITY: Contains 1 Mef2-type DNA-binding domain. 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; L08895; AAA59578.1; -; mRNA. DR EMBL; S57212; AAB25838.1; -; mRNA. DR PIR; A47284; A47284. DR HSSP; Q02078; 1EGW. DR SMR; Q06413; 2-93. DR TRANSFAC; T01766; -. DR TRANSFAC; T01767; -. DR TRANSFAC; T01768; -. DR TRANSFAC; T02504; -. DR Ensembl; ENSG00000081189; Homo sapiens. DR HGNC; HGNC:6996; MEF2C. DR MIM; 600662; gene. DR GO; GO:0003702; F:RNA polymerase II transcription factor acti...; TAS. DR GO; GO:0003700; F:transcription factor activity; NAS. DR GO; GO:0007517; P:muscle development; TAS. DR GO; GO:0007399; P:neurogenesis; TAS. DR InterPro; IPR002100; TF_MADSbox. DR Pfam; PF00319; SRF-TF; 1. DR PRINTS; PR00404; MADSDOMAIN. DR SMART; SM00432; MADS; 1. DR PROSITE; PS00350; MADS_BOX_1; 1. DR PROSITE; PS50066; MADS_BOX_2; 1. KW Activator; Alternative splicing; DNA-binding; Nuclear protein; KW Phosphorylation; Transcription; Transcription regulation. FT DOMAIN 3 57 MADS-box. FT DNA_BIND 58 86 Mef2-type (Potential). FT REGION 368 399 Transcription repressor. FT COMPBIAS 4 31 Lys-rich (basic). FT COMPBIAS 146 183 Ser-rich. FT MOD_RES 59 59 Phosphoserine (by CK2) (By similarity). FT MOD_RES 396 396 Phosphoserine. FT VARSPLIC 271 278 Missing (in isoform 2). FT /FTId=VSP_006248. FT VARSPLIC 368 399 Missing (in isoform 3). FT /FTId=VSP_006249. FT MUTAGEN 396 396 S->A,C: Enhanced transcriptional FT activity. FT MUTAGEN 396 396 S->E: No effect on transcriptional FT activity. SQ SEQUENCE 473 AA; 51221 MW; A7982020BB8C8949 CRC64; MGRKKIQITR IMDERNRQVT FTKRKFGLMK KAYELSVLCD CEIALIIFNS TNKLFQYAST DMDKVLLKYT EYNEPHESRT NSDIVETLRK KGLNGCDSPD PDADDSVGHS PESEDKYRKI NEDIDLMISR QRLCAVPPPN FEMPVSIPVS SHNSLVYSNP VSSLGNPNLL PLAHPSLQRN SMSPGVTHRP PSAGNTGGLM GGDLTSGAGT SAGNGYGNPR NSPGLLVSPG NLNKNMQAKS PPPMNLGMNN RKPDLRVLIP PGSKNTMPSV SEDVDLLLNQ RINNSQSAQS LATPVVSVAT PTLPGQGMGG YPSAISTTYG TEYSLSSADL SSLSGFNTAS ALHLGSVTGW QQQHLHNMPP SALSQLGACT STHLSQSSNL SLPSTQSLNI KSEPVSPPRD RTTTPSRYPQ HTRHEAGRSP VDSLSSCSSS YDGSDREDHR NEFHSPIGLT RPSPDERESP SVKRMRLSEG WAT //