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Reviewed, UniProtKB/Swiss-Prot Q06413 (MEF2C_HUMAN)

Last modified November 25, 2008. Version 69. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    Myocyte-specific enhancer factor 2C
Gene names
Name: MEF2C
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length473 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence at protein level.

General annotation (Comments)

Function

Transcription activator which binds specifically to the MEF2 element present in the regulatory regions of many muscle-specific genes. Controls cardiac morphogenesis and myogenesis, and is also involved in vascular development. May also be involved in neurogenesis and in the development of cortical architecture By similarity. Isoform 3 and isoform 4, which lack the repressor domain, are more active than isoform 1 and isoform 2.

Subunit structure

Interacts with HDAC7 and CARM1 By similarity. Interacts with HDAC4 and HDAC9.

Subcellular location

Nucleus.

Tissue specificity

Expressed in brain and skeletal muscle.

Developmental stage

Expression is highest during the early stages of postnatal development, at later stages levels greatly decrease.

Post-translational modification

Phosphorylated on Ser-59; which enhances DNA binding activity By similarity. Phosphorylated on Ser-396; which is required for Lys-391 sumoylation and inhibits transcriptional activity.

Sumoylated on Ser-396 by SUMO2 but not SUMO1; which represses transcriptional activity.

Sequence similarities

Belongs to the MEF2 family.

Contains 1 MADS-box domain.

Contains 1 Mef2-type DNA-binding domain.

Ontologies

Keywords

   Biological processTranscription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityAlternative splicing
   LigandDNA-binding
   Molecular functionActivator
   PTMPhosphoprotein
Ubl conjugation

Gene Ontology (GO)

   Biological processmuscle development Ref.2

Traceable author statement. Source: ProtInc

nervous system development Ref.2

Traceable author statement. Source: ProtInc

   Cellular componentnucleus

Inferred from electronic annotation. Source: InterPro

   Molecular functionRNA polymerase II transcription factor activity Ref.2

Traceable author statement. Source: ProtInc

sequence-specific DNA binding

Inferred from electronic annotation. Source: InterPro

transcription factor activity

Non-traceable author statement. Source: ProtInc

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Notes: Additional isoforms seem to exist.
Isoform 1 (identifier: Q06413-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q06413-2)

Also known as: Muscle;

The sequence of this isoform differs from the canonical sequence as follows:
     271-278: Missing.
Isoform 3 (identifier: Q06413-3)

Also known as: hMEF2C-delta32; Brain;

The sequence of this isoform differs from the canonical sequence as follows:
     368-399: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 473473Myocyte-specific enhancer factor 2C
PRO_0000199433

Regions

Domain3 – 5755MADS-box
DNA binding58 – 8629Mef2-type Potential
Region368 – 39932Transcription repressor
Compositional bias4 – 3128Lys-rich (basic)
Compositional bias146 – 18338Ser-rich

Amino acid modifications

Modified residue591Phosphoserine; by CK2 By similarity
Modified residue3961Phosphoserine
Cross-link391Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)

Natural variations

Alternative sequence271 – 2788Missing in isoform 2.
VSP_006248
Alternative sequence368 – 39932Missing in isoform 3.
VSP_006249

Experimental info

Mutagenesis3911K → R: Abolishes sumoylation
Mutagenesis3961S → A or C: Abolishes sumoylation. Enhanced transcriptional activity
Mutagenesis3961S → E: No effect on sumoylation. No effect on transcriptional activity

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 1, 1997. Version 1.
Checksum: A7982020BB8C8949

FASTA47351,221
        10         20         30         40         50         60 
MGRKKIQITR IMDERNRQVT FTKRKFGLMK KAYELSVLCD CEIALIIFNS TNKLFQYAST 

        70         80         90        100        110        120 
DMDKVLLKYT EYNEPHESRT NSDIVETLRK KGLNGCDSPD PDADDSVGHS PESEDKYRKI 

       130        140        150        160        170        180 
NEDIDLMISR QRLCAVPPPN FEMPVSIPVS SHNSLVYSNP VSSLGNPNLL PLAHPSLQRN 

       190        200        210        220        230        240 
SMSPGVTHRP PSAGNTGGLM GGDLTSGAGT SAGNGYGNPR NSPGLLVSPG NLNKNMQAKS 

       250        260        270        280        290        300 
PPPMNLGMNN RKPDLRVLIP PGSKNTMPSV SEDVDLLLNQ RINNSQSAQS LATPVVSVAT 

       310        320        330        340        350        360 
PTLPGQGMGG YPSAISTTYG TEYSLSSADL SSLSGFNTAS ALHLGSVTGW QQQHLHNMPP 

       370        380        390        400        410        420 
SALSQLGACT STHLSQSSNL SLPSTQSLNI KSEPVSPPRD RTTTPSRYPQ HTRHEAGRSP 

       430        440        450        460        470 
VDSLSSCSSS YDGSDREDHR NEFHSPIGLT RPSPDERESP SVKRMRLSEG WAT 

« Hide

Isoform 2 (Muscle) [UniParc].

Checksum: A2059C6AACB2F07B
Show »

46550,336
Isoform 3 (hMEF2C-delta32) (Brain) [UniParc].

Checksum: BF94FD79A54FEEB1
Show »

44147,872

References

[1]"MEF2C, a MADS/MEF2-family transcription factor expressed in a laminar distribution in cerebral cortex."
Leifer D., Krainc D., Yu Y.-T., McDermott J., Breitbart R.E., Heng J., Neve R.L., Kosofsky B., Nadal-Ginard B., Lipton S.A.
Proc. Natl. Acad. Sci. U.S.A. 90:1546-1550(1993) [PubMed: 7679508] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3).
Tissue: Fetal brain and Muscle.
[2]"hMEF2C gene encodes skeletal muscle- and brain-specific transcription factors."
McDermott J.C., Cardoso M.C., Yu Y.-T., Andres V., Leifer D., Krainc D., Lipton S.A., Nadal-Ginard B.
Mol. Cell. Biol. 13:2564-2577(1993) [PubMed: 8455629] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
Tissue: Skeletal muscle.
[3]"HDAC4, a human histone deacetylase related to yeast HDA1, is a transcriptional corepressor."
Wang A.H., Bertos N.R., Vezmar M., Pelletier N., Crosato M., Heng H.H., Th'ng J., Han J., Yang X.-J.
Mol. Cell. Biol. 19:7816-7827(1999) [PubMed: 10523670] [Abstract]
Cited for: INTERACTION WITH HDAC4.
[4]"Cloning and characterization of a histone deacetylase, HDAC9."
Zhou X., Marks P.A., Rifkind R.A., Richon V.M.
Proc. Natl. Acad. Sci. U.S.A. 98:10572-10577(2001) [PubMed: 11535832] [Abstract]
Cited for: INTERACTION WITH HDAC9.
[5]"Phosphorylation and alternative pre-mRNA splicing converge to regulate myocyte enhancer factor 2C activity."
Zhu B., Gulick T.
Mol. Cell. Biol. 24:8264-8275(2004) [PubMed: 15340086] [Abstract]
Cited for: PHOSPHORYLATION AT SER-396, MASS SPECTROMETRY, MUTAGENESIS OF SER-396, FUNCTION OF ISOFORMS.
[6]"Systematic identification and analysis of mammalian small ubiquitin-like modifier substrates."
Gocke C.B., Yu H., Kang J.
J. Biol. Chem. 280:5004-5012(2005) [PubMed: 15561718] [Abstract]
Cited for: SUMOYLATION.
[7]"Association with class IIa histone deacetylases upregulates the sumoylation of MEF2 transcription factors."
Gregoire S., Yang X.-J.
Mol. Cell. Biol. 25:2273-2287(2005) [PubMed: 15743823] [Abstract]
Cited for: SUMOYLATION AT LYS-391.
[8]"Phosphorylation-facilitated sumoylation of MEF2C negatively regulates its transcriptional activity."
Kang J., Gocke C.B., Yu H.
BMC Biochem. 7:5-5(2006) [PubMed: 16478538] [Abstract]
Cited for: SUMOYLATION AT LYS-391, MUTAGENESIS OF LYS-391 AND SER-396.
+Additional computationally mapped references.

Cross-references

Sequence databases

L08895 mRNA. Translation: AAA59578.1.
S57212 mRNA. Translation: AAB25838.1.
PIRA47284.
RefSeqNP_002388.2.
UniGeneHs.699175

3D structure databases

HSSPHSSP built from PDB template 1EGW based on UniProtKB Q02078.
SMRQ06413. Positions 2-93.
ModBaseSearch...

PTM databases

PhosphoSiteQ06413.

Genome annotation databases

EnsemblENSG00000081189. Homo sapiens. [Contig view]
GeneID4208.
KEGGhsa:4208.

Organism-specific databases

H-InvDBHIX0005020.
HGNCHGNC:6996. MEF2C.
HPAHPA005533.
MIM600662. gene.
PharmGKBPA30734.
GenAtlasSearch...
GeneCardsSearch...

Phylogenomic databases

HOGENOMQ06413.
HOVERGENQ06413.

Gene expression databases

ArrayExpressQ06413.
CleanExHS_MEF2C.
GermOnlineENSG00000081189. Homo sapiens.

Family and domain databases

InterProIPR002100. TF_MADSbox.
[Graphical view]
PfamPF00319. SRF-TF. 1 hit.
[Graphical view]
PRINTSPR00404. MADSDOMAIN.
SMARTSM00432. MADS. 1 hit.
[Graphical view]
PROSITEPS00350. MADS_BOX_1. 1 hit.
PS50066. MADS_BOX_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

LinkHubQ06413.
NextBio16578.
SOURCESearch...

Entry information

Entry nameMEF2C_HUMAN
AccessionPrimary (citable) accession number: Q06413
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1997
Last modified: November 25, 2008
This is version 69 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

Relevant documents

Human chromosome 5

Human chromosome 5: entries, gene names and cross-references to MIM

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents