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Q06413

- MEF2C_HUMAN

UniProt

Q06413 - MEF2C_HUMAN

Protein

Myocyte-specific enhancer factor 2C

Gene

MEF2C

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 136 (01 Oct 2014)
      Sequence version 1 (01 Nov 1997)
      Previous versions | rss
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    Functioni

    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. Plays an essential role in hippocampal-dependent learning and memory by suppressing the number of excitatory synapses and thus regulating basal and evoked synaptic transmission. Crucial for normal neuronal development, distribution, and electrical activity in the neocortex. Necessary for proper development of megakaryocytes and platelets and for bone marrow B-lymphopoiesis. Required for B-cell survival and proliferation in response to BCR stimulation, efficient IgG1 antibody responses to T-cell-dependent antigens and for normal induction of germinal center B-cells. 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.By similarity6 Publications

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sitei432 – 4332CleavageCurated

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi58 – 8629Mef2-typeSequence AnalysisAdd
    BLAST

    GO - Molecular functioni

    1. activating transcription factor binding Source: UniProtKB
    2. AT DNA binding Source: UniProtKB
    3. chromatin binding Source: Ensembl
    4. core promoter proximal region sequence-specific DNA binding Source: Ensembl
    5. core promoter sequence-specific DNA binding Source: Ensembl
    6. DNA binding Source: UniProtKB
    7. miRNA binding Source: UniProtKB
    8. protein binding Source: UniProtKB
    9. protein heterodimerization activity Source: UniProtKB
    10. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: UniProtKB
    11. RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity Source: UniProtKB
    12. RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity Source: Ensembl
    13. RNA polymerase II regulatory region sequence-specific DNA binding Source: UniProtKB
    14. sequence-specific DNA binding RNA polymerase II transcription factor activity Source: UniProtKB
    15. sequence-specific DNA binding transcription factor activity Source: BHF-UCL
    16. transcription regulatory region DNA binding Source: BHF-UCL

    GO - Biological processi

    1. apoptotic process Source: UniProtKB-KW
    2. B cell homeostasis Source: UniProtKB
    3. B cell proliferation Source: UniProtKB
    4. B cell receptor signaling pathway Source: UniProtKB
    5. blood vessel development Source: UniProtKB
    6. blood vessel remodeling Source: UniProtKB
    7. cardiac muscle hypertrophy in response to stress Source: Ensembl
    8. cardiac ventricle formation Source: UniProtKB
    9. cartilage morphogenesis Source: Ensembl
    10. cell morphogenesis involved in neuron differentiation Source: Alzheimers_University_of_Toronto
    11. cellular response to calcium ion Source: UniProtKB
    12. cellular response to drug Source: UniProtKB
    13. cellular response to fluid shear stress Source: UniProtKB
    14. cellular response to glucose stimulus Source: Ensembl
    15. cellular response to lipopolysaccharide Source: UniProtKB
    16. cellular response to parathyroid hormone stimulus Source: UniProtKB
    17. cellular response to retinoic acid Source: Ensembl
    18. cellular response to transforming growth factor beta stimulus Source: UniProtKB
    19. cellular response to trichostatin A Source: UniProtKB
    20. chondrocyte differentiation Source: UniProtKB
    21. dentate gyrus development Source: Ensembl
    22. embryonic viscerocranium morphogenesis Source: Ensembl
    23. endochondral ossification Source: UniProtKB
    24. epithelial cell proliferation involved in renal tubule morphogenesis Source: UniProtKB
    25. germinal center formation Source: UniProtKB
    26. glomerulus morphogenesis Source: UniProtKB
    27. heart development Source: UniProtKB
    28. heart looping Source: UniProtKB
    29. humoral immune response Source: UniProtKB
    30. innate immune response Source: Reactome
    31. learning or memory Source: UniProtKB
    32. MAPK cascade Source: UniProtKB
    33. melanocyte differentiation Source: UniProtKB
    34. monocyte differentiation Source: Ensembl
    35. muscle cell differentiation Source: Reactome
    36. muscle cell fate determination Source: UniProtKB
    37. muscle organ development Source: ProtInc
    38. MyD88-dependent toll-like receptor signaling pathway Source: Reactome
    39. MyD88-independent toll-like receptor signaling pathway Source: Reactome
    40. myotube differentiation Source: UniProtKB
    41. negative regulation of epithelial cell proliferation Source: Ensembl
    42. negative regulation of gene expression Source: UniProtKB
    43. negative regulation of neuron apoptotic process Source: UniProtKB
    44. negative regulation of ossification Source: UniProtKB
    45. negative regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
    46. nephron tubule epithelial cell differentiation Source: UniProtKB
    47. nervous system development Source: ProtInc
    48. neural crest cell differentiation Source: UniProtKB
    49. neuron development Source: UniProtKB
    50. neuron differentiation Source: UniProtKB
    51. neuron migration Source: Alzheimers_University_of_Toronto
    52. neurotrophin TRK receptor signaling pathway Source: Reactome
    53. osteoblast differentiation Source: UniProtKB
    54. outflow tract morphogenesis Source: UniProtKB
    55. palate development Source: Ensembl
    56. platelet formation Source: UniProtKB
    57. positive regulation of alkaline phosphatase activity Source: UniProtKB
    58. positive regulation of B cell proliferation Source: UniProtKB
    59. positive regulation of behavioral fear response Source: UniProtKB
    60. positive regulation of bone mineralization Source: UniProtKB
    61. positive regulation of cardiac muscle cell differentiation Source: UniProtKB
    62. positive regulation of cardiac muscle cell proliferation Source: UniProtKB
    63. positive regulation of cardiac muscle hypertrophy Source: Ensembl
    64. positive regulation of cell proliferation in bone marrow Source: Ensembl
    65. positive regulation of gene expression Source: UniProtKB
    66. positive regulation of macrophage apoptotic process Source: UniProtKB
    67. positive regulation of MAP kinase activity Source: Alzheimers_University_of_Toronto
    68. positive regulation of muscle cell differentiation Source: Reactome
    69. positive regulation of myoblast differentiation Source: UniProtKB
    70. positive regulation of neuron differentiation Source: UniProtKB
    71. positive regulation of osteoblast differentiation Source: UniProtKB
    72. positive regulation of protein homodimerization activity Source: UniProtKB
    73. positive regulation of skeletal muscle cell differentiation Source: UniProtKB
    74. positive regulation of skeletal muscle tissue development Source: UniProtKB
    75. positive regulation of transcription, DNA-templated Source: UniProtKB
    76. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
    77. primary heart field specification Source: UniProtKB
    78. regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity Source: Alzheimers_University_of_Toronto
    79. regulation of dendritic spine development Source: Alzheimers_University_of_Toronto
    80. regulation of excitatory postsynaptic membrane potential Source: Alzheimers_University_of_Toronto
    81. regulation of germinal center formation Source: UniProtKB
    82. regulation of megakaryocyte differentiation Source: UniProtKB
    83. regulation of neuron apoptotic process Source: Alzheimers_University_of_Toronto
    84. regulation of neurotransmitter secretion Source: Alzheimers_University_of_Toronto
    85. regulation of N-methyl-D-aspartate selective glutamate receptor activity Source: Alzheimers_University_of_Toronto
    86. regulation of sarcomere organization Source: Ensembl
    87. regulation of synapse assembly Source: Alzheimers_University_of_Toronto
    88. regulation of synaptic activity Source: UniProtKB
    89. regulation of synaptic plasticity Source: Alzheimers_University_of_Toronto
    90. regulation of synaptic transmission, glutamatergic Source: Alzheimers_University_of_Toronto
    91. regulation of transcription, DNA-templated Source: Alzheimers_University_of_Toronto
    92. renal tubule morphogenesis Source: UniProtKB
    93. response to ischemia Source: Alzheimers_University_of_Toronto
    94. response to virus Source: UniProtKB
    95. response to vitamin E Source: Ensembl
    96. secondary heart field specification Source: UniProtKB
    97. sinoatrial valve morphogenesis Source: UniProtKB
    98. skeletal muscle tissue development Source: UniProtKB
    99. smooth muscle cell differentiation Source: UniProtKB
    100. stress-activated MAPK cascade Source: Reactome
    101. toll-like receptor 10 signaling pathway Source: Reactome
    102. toll-like receptor 2 signaling pathway Source: Reactome
    103. toll-like receptor 3 signaling pathway Source: Reactome
    104. toll-like receptor 4 signaling pathway Source: Reactome
    105. toll-like receptor 5 signaling pathway Source: Reactome
    106. toll-like receptor 9 signaling pathway Source: Reactome
    107. toll-like receptor signaling pathway Source: Reactome
    108. toll-like receptor TLR1:TLR2 signaling pathway Source: Reactome
    109. toll-like receptor TLR6:TLR2 signaling pathway Source: Reactome
    110. TRIF-dependent toll-like receptor signaling pathway Source: Reactome
    111. ventricular cardiac muscle cell differentiation Source: UniProtKB

    Keywords - Molecular functioni

    Activator, Developmental protein

    Keywords - Biological processi

    Apoptosis, Differentiation, Neurogenesis, Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Enzyme and pathway databases

    ReactomeiREACT_12599. ERK/MAPK targets.
    REACT_200608. Transcriptional activation of mitochondrial biogenesis.
    REACT_21402. CDO in myogenesis.
    REACT_24941. Circadian Clock.
    SignaLinkiQ06413.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Myocyte-specific enhancer factor 2C
    Gene namesi
    Name:MEF2C
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 5

    Organism-specific databases

    HGNCiHGNC:6996. MEF2C.

    Subcellular locationi

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB
    2. cytosol Source: Alzheimers_University_of_Toronto
    3. nuclear speck Source: BHF-UCL
    4. nucleoplasm Source: Reactome
    5. nucleus Source: UniProtKB
    6. protein complex Source: UniProtKB
    7. sarcomere Source: Ensembl

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Mental retardation, autosomal dominant 20 (MRD20) [MIM:613443]: A disorder characterized by severe mental retardation, absent speech, hypotonia, poor eye contact and stereotypic movements. Dysmorphic features include high broad forehead with variable small chin, short nose with anteverted nares, large open mouth, upslanted palpebral fissures and prominent eyebrows. Some patients have seizures.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi116 – 1161K → R: Reduced acetylation. Further reduction in acetylation; when associated with R-119. Complete loss of acetylation, 15% less transactivation activity and slightly reduced DNA binding; when associated with R-119; R-234; R-239; R-252 and R-262. 1 Publication
    Mutagenesisi119 – 1191K → R: Reduced acetylation. Further reduction in acetylation; when associated with R-119. Complete loss of acetylation, 15% less transactivation activity and slightly reduced DNA binding; when associated with R-116; R-234; R-239; R-252 and R-262. 1 Publication
    Mutagenesisi234 – 2341K → R: Reduced acetylation. Complete loss of acetylation, 15% less transactivation activity and slightly reduced DNA binding; when associated with R-116; R-119; R-239; R-252 and R-264. 1 Publication
    Mutagenesisi239 – 2391K → R: Reduced acetylation. Complete loss of acetylation, 15% less transactivation activity and slightly reduced DNA binding; when associated with R-116; R-119; R-234; R-252 and R-264. 1 Publication
    Mutagenesisi252 – 2521K → R: Reduced acetylation. Complete loss of acetylation, 15% less transactivation activity and slightly reduced DNA binding; when associated with R-116; R-119; R-234; R-239 and R-264. 1 Publication
    Mutagenesisi264 – 2641K → R: Reduced acetylation. Complete loss of acetylation, 15% less transactivation activity and slightly reduced DNA binding; when associated with R-116; R-119; R-234; R-239 and R-252. 1 Publication
    Mutagenesisi271 – 2711S → A: No effect on transcriptional activation. 1 Publication
    Mutagenesisi272 – 2721E → Q: Reduced transcriptional activation. Completely abolishes transcriptional activation; when associated with N-273 and N-275. 1 Publication
    Mutagenesisi273 – 2731D → N: Reduced transcriptional activation. Completely abolishes transcriptional activation; when associated with Q-272 and N-275. 1 Publication
    Mutagenesisi275 – 2751D → N: Reduced transcriptional activation. Completely abolishes transcriptional activation; when associated with Q-272 and N-273. 1 Publication
    Mutagenesisi293 – 2931T → A: Abolishes MAPK14-mediated phosphorylation. No effect on MAPK7-mediated phosphorylation; when associated with A-300. 2 Publications
    Mutagenesisi300 – 3001T → A: Abolishes MAPK14-mediated phosphorylation. No effect on MAPK7-mediated phosphorylation; when associated with A-293. 2 Publications
    Mutagenesisi387 – 3871S → A: No change in transactivational activation for isoforms with or without the beta domain. 1 Publication
    Mutagenesisi391 – 3911K → R: Abolishes sumoylation. 1 Publication
    Mutagenesisi396 – 3961S → A or C: Abolishes sumoylation. Enhanced transcriptional activity. 3 Publications
    Mutagenesisi396 – 3961S → A: No change in transactivational activation for isoforms with or without the beta domain. 3 Publications
    Mutagenesisi396 – 3961S → E: No effect on sumoylation. No effect on transcriptional activity. 3 Publications
    Mutagenesisi419 – 4191S → A: No effect on MAPK14-mediated phosphorylation. Abolishes MAPK7-mediated phosphorylation and reduces transactivation activity. 2 Publications
    Mutagenesisi432 – 4321D → A: Abolishes cleavage by caspase 7. 1 Publication

    Keywords - Diseasei

    Epilepsy, Mental retardation

    Organism-specific databases

    MIMi613443. phenotype.
    Orphaneti228384. 5q14.3 microdeletion syndrome.
    PharmGKBiPA30734.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 473473Myocyte-specific enhancer factor 2CPRO_0000199433Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei4 – 41N6-acetyllysineBy similarity
    Modified residuei59 – 591Phosphoserine; by CK2By similarity
    Modified residuei116 – 1161N6-acetyllysine1 Publication
    Modified residuei119 – 1191N6-acetyllysine1 Publication
    Modified residuei234 – 2341N6-acetyllysine1 Publication
    Modified residuei239 – 2391N6-acetyllysine1 Publication
    Modified residuei252 – 2521N6-acetyllysine1 Publication
    Modified residuei264 – 2641N6-acetyllysine1 Publication
    Modified residuei293 – 2931Phosphothreonine; by MAPK143 Publications
    Modified residuei300 – 3001Phosphothreonine; by MAPK143 Publications
    Cross-linki391 – 391Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)
    Modified residuei396 – 3961Phosphoserine; by CDK52 Publications
    Modified residuei419 – 4191Phosphoserine; by MAPK73 Publications

    Post-translational modificationi

    Phosphorylation on Ser-59 enhances DNA binding activity By similarity. Phosphorylation on Ser-396 is required for Lys-391 sumoylation and inhibits transcriptional activity.By similarity7 Publications
    Acetylated by p300 on several sites in diffentiating myocytes. Acetylation on Lys-4 increases DNA binding and transactivation By similarity.By similarity
    Sumoylated on Lys-391 with SUMO2 but not by SUMO1 represses transcriptional activity.3 Publications
    Proteolytically cleaved in cerebellar granule neurons, probably by caspase 7, following neurotoxicity. Preferentially cleaves the CDK5-mediated hyperphosphorylated form which leads to neuron apoptosis and transcriptional inactivation.1 Publication

    Keywords - PTMi

    Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

    Proteomic databases

    MaxQBiQ06413.
    PaxDbiQ06413.
    PRIDEiQ06413.

    PTM databases

    PhosphoSiteiQ06413.

    Expressioni

    Tissue specificityi

    Expressed in brain and skeletal muscle.1 Publication

    Developmental stagei

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

    Gene expression databases

    ArrayExpressiQ06413.
    BgeeiQ06413.
    CleanExiHS_MEF2C.
    GenevestigatoriQ06413.

    Organism-specific databases

    HPAiHPA005533.

    Interactioni

    Subunit structurei

    Forms a complex with class II HDACs in undifferentiating cells. On myogenic differentiation, HDACs are released into the cytoplasm allowing MEF2s to interact with other proteins for activation. Interacts with EP300 in differentiating cells; the interaction acetylates MEF2C leading to increased DNA binding and activation. Interacts with HDAC7 and CARM1 By similarity. Interacts with HDAC4, HDAC7 AND HDAC9; the interaction WITH HDACs represses transcriptional activity. Interacts with MYOCD By similarity.By similarity

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    MYLK2Q9H1R32EBI-2684075,EBI-356910

    Protein-protein interaction databases

    BioGridi110372. 26 interactions.
    DIPiDIP-40857N.
    IntActiQ06413. 16 interactions.
    MINTiMINT-125556.
    STRINGi9606.ENSP00000396219.

    Structurei

    3D structure databases

    ProteinModelPortaliQ06413.
    SMRiQ06413. Positions 2-73.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini3 – 5755MADS-boxPROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni271 – 2788Beta domain
    Regioni368 – 39932Transcription repressorAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi4 – 3128Lys-rich (basic)Add
    BLAST
    Compositional biasi146 – 18338Ser-richAdd
    BLAST

    Domaini

    The beta domain, missing in a number of isoforms, is required for enhancement of transcriptional activity.By similarity

    Sequence similaritiesi

    Belongs to the MEF2 family.Curated
    Contains 1 MADS-box domain.PROSITE-ProRule annotation
    Contains 1 Mef2-type DNA-binding domain.Curated

    Phylogenomic databases

    eggNOGiCOG5068.
    HOGENOMiHOG000230620.
    HOVERGENiHBG053944.
    InParanoidiQ06413.
    KOiK04454.
    OMAiMQHSALS.
    OrthoDBiEOG793B7D.
    PhylomeDBiQ06413.
    TreeFamiTF314067.

    Family and domain databases

    InterProiIPR022102. HJURP_C.
    IPR002100. TF_MADSbox.
    [Graphical view]
    PfamiPF12347. HJURP_C. 1 hit.
    PF00319. SRF-TF. 1 hit.
    [Graphical view]
    PRINTSiPR00404. MADSDOMAIN.
    SMARTiSM00432. MADS. 1 hit.
    [Graphical view]
    SUPFAMiSSF55455. SSF55455. 1 hit.
    PROSITEiPS00350. MADS_BOX_1. 1 hit.
    PS50066. MADS_BOX_2. 1 hit.
    [Graphical view]

    Sequences (6)i

    Sequence statusi: Complete.

    This entry describes 6 isoformsi produced by alternative splicing. Align

    Note: Additional isoforms seem to exist.

    Isoform 1 (identifier: Q06413-1) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MGRKKIQITR IMDERNRQVT FTKRKFGLMK KAYELSVLCD CEIALIIFNS    50
    TNKLFQYAST DMDKVLLKYT EYNEPHESRT NSDIVETLRK KGLNGCDSPD 100
    PDADDSVGHS PESEDKYRKI NEDIDLMISR QRLCAVPPPN FEMPVSIPVS 150
    SHNSLVYSNP VSSLGNPNLL PLAHPSLQRN SMSPGVTHRP PSAGNTGGLM 200
    GGDLTSGAGT SAGNGYGNPR NSPGLLVSPG NLNKNMQAKS PPPMNLGMNN 250
    RKPDLRVLIP PGSKNTMPSV SEDVDLLLNQ RINNSQSAQS LATPVVSVAT 300
    PTLPGQGMGG YPSAISTTYG TEYSLSSADL SSLSGFNTAS ALHLGSVTGW 350
    QQQHLHNMPP SALSQLGACT STHLSQSSNL SLPSTQSLNI KSEPVSPPRD 400
    RTTTPSRYPQ HTRHEAGRSP VDSLSSCSSS YDGSDREDHR NEFHSPIGLT 450
    RPSPDERESP SVKRMRLSEG WAT 473
    Length:473
    Mass (Da):51,221
    Last modified:November 1, 1997 - v1
    Checksum:iA7982020BB8C8949
    GO
    Isoform 2 (identifier: Q06413-2) [UniParc]FASTAAdd to Basket

    Also known as: Muscle

    The sequence of this isoform differs from the canonical sequence as follows:
         271-278: Missing.

    Show »
    Length:465
    Mass (Da):50,336
    Checksum:iA2059C6AACB2F07B
    GO
    Isoform 3 (identifier: Q06413-3) [UniParc]FASTAAdd to Basket

    Also known as: hMEF2C-delta32, Brain

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

    Show »
    Length:441
    Mass (Da):47,872
    Checksum:iBF94FD79A54FEEB1
    GO
    Isoform 4 (identifier: Q06413-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         87-134: Missing.
         271-278: Missing.

    Show »
    Length:417
    Mass (Da):44,935
    Checksum:i35B8B495FAB6FA3C
    GO
    Isoform 5 (identifier: Q06413-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         107-134: VGHSPESEDKYRKINEDIDLMISRQRLC → ALNKKENKGCESPDPDSSYALTPRTEEKYKKINEEFDNMIKSHKIP
         271-278: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:483
    Mass (Da):52,328
    Checksum:i54ECDC4D04211C48
    GO
    Isoform 6 (identifier: Q06413-6) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         87-134: TLRKKGLNGC...DLMISRQRLC → ALNKKENKGC...DNMIKSHKIP
         271-278: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:463
    Mass (Da):50,242
    Checksum:iB78282622DC98CE5
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti390 – 3901I → T in AL833268. (PubMed:17974005)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei87 – 13448Missing in isoform 4. 1 PublicationVSP_043339Add
    BLAST
    Alternative sequencei87 – 13448TLRKK…RQRLC → ALNKKENKGCESPDPDSSYA LTPRTEEKYKKINEEFDNMI KSHKIP in isoform 6. 1 PublicationVSP_046251Add
    BLAST
    Alternative sequencei107 – 13428VGHSP…RQRLC → ALNKKENKGCESPDPDSSYA LTPRTEEKYKKINEEFDNMI KSHKIP in isoform 5. 1 PublicationVSP_045478Add
    BLAST
    Alternative sequencei271 – 2788Missing in isoform 2, isoform 4, isoform 5 and isoform 6. 4 PublicationsVSP_006248
    Alternative sequencei368 – 39932Missing in isoform 3. 1 PublicationVSP_006249Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L08895 mRNA. Translation: AAA59578.1.
    S57212 mRNA. Translation: AAB25838.1.
    FM163484 mRNA. Translation: CAQ57795.2.
    AL833268 mRNA. No translation available.
    AL833274 mRNA. No translation available.
    AC008525 Genomic DNA. No translation available.
    AC008835 Genomic DNA. No translation available.
    CCDSiCCDS47244.1. [Q06413-6]
    CCDS47245.1. [Q06413-1]
    CCDS54877.1. [Q06413-4]
    CCDS54878.1. [Q06413-5]
    PIRiA47284.
    RefSeqiNP_001124477.1. NM_001131005.2. [Q06413-6]
    NP_001180276.1. NM_001193347.1. [Q06413-5]
    NP_001180277.1. NM_001193348.1. [Q06413-4]
    NP_001180278.1. NM_001193349.1.
    NP_001180279.1. NM_001193350.1. [Q06413-1]
    NP_002388.2. NM_002397.4. [Q06413-1]
    XP_005248568.1. XM_005248511.1. [Q06413-1]
    XP_006714681.1. XM_006714618.1. [Q06413-1]
    XP_006714682.1. XM_006714619.1. [Q06413-1]
    XP_006714684.1. XM_006714621.1. [Q06413-2]
    XP_006714685.1. XM_006714622.1. [Q06413-6]
    XP_006714686.1. XM_006714623.1. [Q06413-3]
    XP_006714688.1. XM_006714625.1. [Q06413-5]
    UniGeneiHs.649965.

    Genome annotation databases

    EnsembliENST00000340208; ENSP00000340874; ENSG00000081189. [Q06413-5]
    ENST00000424173; ENSP00000389610; ENSG00000081189. [Q06413-6]
    ENST00000437473; ENSP00000396219; ENSG00000081189. [Q06413-1]
    ENST00000510942; ENSP00000422390; ENSG00000081189. [Q06413-2]
    ENST00000514015; ENSP00000424606; ENSG00000081189. [Q06413-3]
    ENST00000514028; ENSP00000426665; ENSG00000081189. [Q06413-1]
    GeneIDi4208.
    KEGGihsa:4208.
    UCSCiuc003kji.2. human. [Q06413-2]
    uc003kjj.3. human. [Q06413-1]
    uc021ybh.1. human. [Q06413-4]

    Polymorphism databases

    DMDMi2500875.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L08895 mRNA. Translation: AAA59578.1 .
    S57212 mRNA. Translation: AAB25838.1 .
    FM163484 mRNA. Translation: CAQ57795.2 .
    AL833268 mRNA. No translation available.
    AL833274 mRNA. No translation available.
    AC008525 Genomic DNA. No translation available.
    AC008835 Genomic DNA. No translation available.
    CCDSi CCDS47244.1. [Q06413-6 ]
    CCDS47245.1. [Q06413-1 ]
    CCDS54877.1. [Q06413-4 ]
    CCDS54878.1. [Q06413-5 ]
    PIRi A47284.
    RefSeqi NP_001124477.1. NM_001131005.2. [Q06413-6 ]
    NP_001180276.1. NM_001193347.1. [Q06413-5 ]
    NP_001180277.1. NM_001193348.1. [Q06413-4 ]
    NP_001180278.1. NM_001193349.1.
    NP_001180279.1. NM_001193350.1. [Q06413-1 ]
    NP_002388.2. NM_002397.4. [Q06413-1 ]
    XP_005248568.1. XM_005248511.1. [Q06413-1 ]
    XP_006714681.1. XM_006714618.1. [Q06413-1 ]
    XP_006714682.1. XM_006714619.1. [Q06413-1 ]
    XP_006714684.1. XM_006714621.1. [Q06413-2 ]
    XP_006714685.1. XM_006714622.1. [Q06413-6 ]
    XP_006714686.1. XM_006714623.1. [Q06413-3 ]
    XP_006714688.1. XM_006714625.1. [Q06413-5 ]
    UniGenei Hs.649965.

    3D structure databases

    ProteinModelPortali Q06413.
    SMRi Q06413. Positions 2-73.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110372. 26 interactions.
    DIPi DIP-40857N.
    IntActi Q06413. 16 interactions.
    MINTi MINT-125556.
    STRINGi 9606.ENSP00000396219.

    PTM databases

    PhosphoSitei Q06413.

    Polymorphism databases

    DMDMi 2500875.

    Proteomic databases

    MaxQBi Q06413.
    PaxDbi Q06413.
    PRIDEi Q06413.

    Protocols and materials databases

    DNASUi 4208.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000340208 ; ENSP00000340874 ; ENSG00000081189 . [Q06413-5 ]
    ENST00000424173 ; ENSP00000389610 ; ENSG00000081189 . [Q06413-6 ]
    ENST00000437473 ; ENSP00000396219 ; ENSG00000081189 . [Q06413-1 ]
    ENST00000510942 ; ENSP00000422390 ; ENSG00000081189 . [Q06413-2 ]
    ENST00000514015 ; ENSP00000424606 ; ENSG00000081189 . [Q06413-3 ]
    ENST00000514028 ; ENSP00000426665 ; ENSG00000081189 . [Q06413-1 ]
    GeneIDi 4208.
    KEGGi hsa:4208.
    UCSCi uc003kji.2. human. [Q06413-2 ]
    uc003kjj.3. human. [Q06413-1 ]
    uc021ybh.1. human. [Q06413-4 ]

    Organism-specific databases

    CTDi 4208.
    GeneCardsi GC05M088051.
    HGNCi HGNC:6996. MEF2C.
    HPAi HPA005533.
    MIMi 600662. gene.
    613443. phenotype.
    neXtProti NX_Q06413.
    Orphaneti 228384. 5q14.3 microdeletion syndrome.
    PharmGKBi PA30734.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5068.
    HOGENOMi HOG000230620.
    HOVERGENi HBG053944.
    InParanoidi Q06413.
    KOi K04454.
    OMAi MQHSALS.
    OrthoDBi EOG793B7D.
    PhylomeDBi Q06413.
    TreeFami TF314067.

    Enzyme and pathway databases

    Reactomei REACT_12599. ERK/MAPK targets.
    REACT_200608. Transcriptional activation of mitochondrial biogenesis.
    REACT_21402. CDO in myogenesis.
    REACT_24941. Circadian Clock.
    SignaLinki Q06413.

    Miscellaneous databases

    ChiTaRSi MEF2C. human.
    GeneWikii MEF2C.
    GenomeRNAii 4208.
    NextBioi 16578.
    PROi Q06413.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q06413.
    Bgeei Q06413.
    CleanExi HS_MEF2C.
    Genevestigatori Q06413.

    Family and domain databases

    InterProi IPR022102. HJURP_C.
    IPR002100. TF_MADSbox.
    [Graphical view ]
    Pfami PF12347. HJURP_C. 1 hit.
    PF00319. SRF-TF. 1 hit.
    [Graphical view ]
    PRINTSi PR00404. MADSDOMAIN.
    SMARTi SM00432. MADS. 1 hit.
    [Graphical view ]
    SUPFAMi SSF55455. SSF55455. 1 hit.
    PROSITEi PS00350. MADS_BOX_1. 1 hit.
    PS50066. MADS_BOX_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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] [Europe PMC] [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] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
      Tissue: Skeletal muscle.
    3. "Identification and characterization of a new splice variant of human MEF2C."
      Infantino V., Convertini P., Palmieri F., Iacobazzi V.
      Submitted (MAY-2008) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4).
      Tissue: Skeletal muscle.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 5 AND 6).
      Tissue: Skeletal muscle.
    5. "The DNA sequence and comparative analysis of human chromosome 5."
      Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.
      , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
      Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "BMK1/ERK5 regulates serum-induced early gene expression through transcription factor MEF2C."
      Kato Y., Kravchenko V.V., Tapping R.I., Han J., Ulevitch R.J., Lee J.-D.
      EMBO J. 16:7054-7066(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION AT THR-293; THR-300 AND SER-419, FUNCTION, MUTAGENESIS OF THR-293; THR-300 AND SER-419.
    7. "Activation of the transcription factor MEF2C by the MAP kinase p38 in inflammation."
      Han J., Jiang Y., Li Z., Kravchenko V.V., Ulevitch R.J.
      Nature 386:296-299(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION AT THR-293; THR-300 AND SER-419, FUNCTION, MUTAGENESIS OF THR-293; THR-300 AND SER-419.
    8. "Characterization of myocyte enhancer factor 2 (MEF2) expression in B and T cells: MEF2C is a B cell-restricted transcription factor in lymphocytes."
      Swanson B.J., Jaeck H.-M., Lyons G.E.
      Mol. Immunol. 35:445-458(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.
    9. "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] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH HDAC4.
    10. "Big mitogen-activated kinase regulates multiple members of the MEF2 protein family."
      Kato Y., Zhao M., Morikawa A., Sugiyama T., Chakravortty D., Koide N., Yoshida T., Tapping R.I., Yang Y., Yokochi T., Lee J.D.
      J. Biol. Chem. 275:18534-18540(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION BY MAPK7.
    11. "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] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH HDAC9.
    12. "Dominant-interfering forms of MEF2 generated by caspase cleavage contribute to NMDA-induced neuronal apoptosis."
      Okamoto S., Li Z., Ju C., Scholzke M.N., Mathews E., Cui J., Salvesen G.S., Bossy-Wetzel E., Lipton S.A.
      Proc. Natl. Acad. Sci. U.S.A. 99:3974-3979(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: PROTEOLYTIC PROCESSING AT ASP-432, FUNCTION, MUTAGENESIS OF ASP-432.
    13. "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] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION AT SER-396, IDENTIFICATION BY MASS SPECTROMETRY, MUTAGENESIS OF SER-396, FUNCTION OF ISOFORMS.
    14. "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] [Europe PMC] [Abstract]
      Cited for: SUMOYLATION.
    15. "Alternative pre-mRNA splicing governs expression of a conserved acidic transactivation domain in myocyte enhancer factor 2 factors of striated muscle and brain."
      Zhu B., Ramachandran B., Gulick T.
      J. Biol. Chem. 280:28749-28760(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION OF BETA DOMAIN, MUTAGENESIS OF SER-271; GLU-272; ASP-273; ASP-275; SER-387 AND SER-396.
    16. "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] [Europe PMC] [Abstract]
      Cited for: SUMOYLATION AT LYS-391.
    17. "Myocyte enhancer factor 2 acetylation by p300 enhances its DNA binding activity, transcriptional activity, and myogenic differentiation."
      Ma K., Chan J.K., Zhu G., Wu Z.
      Mol. Cell. Biol. 25:3575-3582(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: ACETYLATION AT LYS-116; LYS-119; LYS-234; LYS-239; LYS-252 AND LYS-264, INTERACTION WITH EP300, FUNCTION, DNA-BINDING, MUTAGENESIS OF LYS-116; LYS-119; LYS-234; LYS-239; LYS-252 AND LYS-264.
    18. "Phosphorylation-facilitated sumoylation of MEF2C negatively regulates its transcriptional activity."
      Kang J., Gocke C.B., Yu H.
      BMC Biochem. 7:5-5(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUMOYLATION AT LYS-391, MUTAGENESIS OF LYS-391 AND SER-396.
    19. "MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations."
      Le Meur N., Holder-Espinasse M., Jaillard S., Goldenberg A., Joriot S., Amati-Bonneau P., Guichet A., Barth M., Charollais A., Journel H., Auvin S., Boucher C., Kerckaert J.P., David V., Manouvrier-Hanu S., Saugier-Veber P., Frebourg T., Dubourg C., Andrieux J., Bonneau D.
      J. Med. Genet. 47:22-29(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN MRD20.

    Entry informationi

    Entry nameiMEF2C_HUMAN
    AccessioniPrimary (citable) accession number: Q06413
    Secondary accession number(s): C9JMZ0, D7F7N5, F8W7V7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1997
    Last sequence update: November 1, 1997
    Last modified: October 1, 2014
    This is version 136 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 5
      Human chromosome 5: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3