Q60929
SS
Gene name |
Mef2a |
Protein name |
Myocyte-specific enhancer factor 2A |
Names |
|
Species |
Mus musculus (Mouse) |
KEGG Pathway |
mmu:17258 |
EC number |
|
Protein Class |
|
Descriptions
MEF2 factors regulate transcription during cardiac and skeletal myogenesis. Phosphorylation by p38 at Thr 293 and Thr 300 within a linker region, and Ser 387 within transcription repressor domain enhances MEF2C activity allosterically, which implicates potential mechanism of autoinhibition.
Autoinhibitory domains (AIDs)
Target domain |
1-61 (Transcription factor, MADS-box) |
Relief mechanism |
PTM |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q60929
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q60929-F1 | Predicted | AlphaFoldDB |
14 variants for Q60929
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs3388907857 | 16 | N>K | No | EVA | |
| rs3388918769 | 28 | L>M | No | EVA | |
| rs3388914614 | 36 | S>T | No | EVA | |
| rs3388918784 | 90 | K>E | No | EVA | |
| rs3388920940 | 110 | L>I | No | EVA | |
| rs3388896835 | 114 | R>S | No | EVA | |
| rs3388913428 | 159 | S>I | No | EVA | |
| rs3388896869 | 160 | S>T | No | EVA | |
| rs227338358 | 185 | L>I | No | EVA | |
| rs224878301 | 261 | S>N | No | EVA | |
| rs215479200 | 343 | A>T | No | EVA | |
| rs3388921777 | 374 | A>T | No | EVA | |
| rs3388896841 | 467 | D>E | No | EVA | |
| rs3388914645 | 490 | R>C | No | EVA |
No associated diseases with Q60929
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| transcription regulator complex | A protein complex that is capable of associating with DNA by direct binding, or via other DNA-binding proteins or complexes, and regulating transcription. |
15 GO annotations of molecular function
| Name | Definition |
|---|---|
| chromatin binding | Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase. |
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| DNA-binding transcription activator activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that activates or increases transcription of specific gene sets transcribed by RNA polymerase II. |
| DNA-binding transcription factor activity | A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons. |
| DNA-binding transcription factor activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II. |
| DNA-binding transcription factor binding | Binding to a DNA-binding transcription factor, a protein that interacts with a specific DNA sequence (sometimes referred to as a motif) within the regulatory region of a gene to modulate transcription. |
| histone acetyltransferase binding | Binding to an histone acetyltransferase. |
| histone deacetylase binding | Binding to histone deacetylase. |
| protein heterodimerization activity | Binding to a nonidentical protein to form a heterodimer. |
| protein kinase binding | Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. |
| RNA polymerase II cis-regulatory region sequence-specific DNA binding | Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II. |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | Binding to a specific sequence of DNA that is part of a regulatory region that controls the transcription of a gene or cistron by RNA polymerase II. |
| RNA polymerase II-specific DNA-binding transcription factor binding | Binding to a sequence-specific DNA binding RNA polymerase II transcription factor, any of the factors that interact selectively and non-covalently with a specific DNA sequence in order to modulate transcription. |
| sequence-specific DNA binding | Binding to DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding. |
| SMAD binding | Binding to a SMAD signaling protein. |
19 GO annotations of biological process
| Name | Definition |
|---|---|
| apoptotic process | A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. |
| cardiac conduction | Transfer of an organized electrical impulse across the heart to coordinate the contraction of cardiac muscles. The process begins with generation of an action potential (in the sinoatrial node (SA) in humans) and ends with a change in the rate, frequency, or extent of the contraction of the heart muscles. |
| cell differentiation | The cellular developmental process in which a relatively unspecialized cell, e.g. embryonic or regenerative cell, acquires specialized structural and/or functional features that characterize a specific cell. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
| cellular response to calcium ion | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a calcium ion stimulus. |
| dendrite morphogenesis | The process in which the anatomical structures of a dendrite are generated and organized. |
| DNA-templated transcription | The synthesis of an RNA transcript from a DNA template. |
| ERK5 cascade | An intracellular protein kinase cascade containing at least ERK5 (also called BMK1; a MAPK), a MEK (a MAPKK) and a MAP3K. The cascade can also contain an additional tier |
| heart development | The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. |
| MAPK cascade | An intracellular protein kinase cascade containing at least a MAPK, a MAPKK and a MAP3K. The cascade can also contain an additional tiers |
| mitochondrial genome maintenance | The maintenance of the structure and integrity of the mitochondrial genome; includes replication and segregation of the mitochondrial chromosome. |
| mitochondrion distribution | Any process that establishes the spatial arrangement of mitochondria between and within cells. |
| negative regulation of transcription by RNA polymerase II | Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| positive regulation of cardiac muscle hypertrophy | Any process that increases the rate, frequency or extent of the enlargement or overgrowth of all or part of the heart due to an increase in size (not length) of individual cardiac muscle fibers, without cell division. |
| positive regulation of DNA-templated transcription | Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. |
| positive regulation of gene expression | Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| positive regulation of glucose import | Any process that activates or increases the frequency, rate or extent of the import of the hexose monosaccharide glucose into a cell or organelle. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| regulation of DNA-templated transcription | Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. |
| ventricular cardiac myofibril assembly | The process whose specific outcome is the progression of the ventricular cardiac myofibril over time, from its formation to the mature structure. A cardiac myofibril is a myofibril specific to cardiac muscle cells. |
17 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A2VDZ3 | MEF2A | Myocyte-specific enhancer factor 2A | Bos taurus (Bovine) | SS |
| Q9W6U8 | MEF2A | Myocyte-specific enhancer factor 2A | Gallus gallus (Chicken) | SS |
| Q06413 | MEF2C | Myocyte-specific enhancer factor 2C | Homo sapiens (Human) | EV |
| Q02078 | MEF2A | Myocyte-specific enhancer factor 2A | Homo sapiens (Human) | SS |
| Q8CFN5 | Mef2c | Myocyte-specific enhancer factor 2C | Mus musculus (Mouse) | SS |
| A4UTP7 | MEF2C | Myocyte-specific enhancer factor 2C | Sus scrofa (Pig) | SS |
| A2ICN5 | MEF2A | Myocyte-specific enhancer factor 2A | Sus scrofa (Pig) | SS |
| A0A096MJY4 | Mef2c | Myocyte-specific enhancer factor 2C | Rattus norvegicus (Rat) | SS |
| Q2MJT0 | Mef2a | Myocyte-specific enhancer factor 2A | Rattus norvegicus (Rat) | SS |
| Q40702 | MADS2 | MADS-box transcription factor 2 | Oryza sativa subsp japonica (Rice) | PR |
| Q5K4R0 | MADS47 | MADS-box transcription factor 47 | Oryza sativa subsp japonica (Rice) | PR |
| Q655V4 | MADS30 | MADS-box transcription factor 30 | Oryza sativa subsp japonica (Rice) | PR |
| P35632 | AP3 | Floral homeotic protein APETALA 3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| P29383 | AGL3 | Agamous-like MADS-box protein AGL3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q683D7 | MAF5 | Protein MADS AFFECTING FLOWERING 5 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q1PFA4 | AGL30 | Agamous-like MADS-box protein AGL30 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9FUY6 | J | MADS-box protein JOINTLESS | Solanum lycopersicum (Tomato) (Lycopersicon esculentum) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGRKKIQITR | IMDERNRQVT | FTKRKFGLMK | KAYELSVLCD | CEIALIIFNS | SNKLFQYAST |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DMDKVLLKYT | EYNEPHESRT | NSDIVETLRK | KGLNGCESPD | ADDYFEHSPL | SEDRFSKLNE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DSDFIFKRGP | PGLPPQNFSM | SVTVPVTSPN | ALSYTNPGSS | LVSPSLAASS | TLADSSMLSP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PPATLHRNVS | PGAPQRPPST | GSASGMLSTT | DLTVPNGAGN | SPVGNGFVNS | RASPNLIGNT |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GANSLGKVMP | TKSPPPPGGG | SLGMNSRKPD | LRVVIPPSSK | GMMPPLSEEE | ELELNAQRIS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SSQATQPLAT | PVVSVTTPSL | PPQGLVYSAM | PTAYNTDYSL | TSADLSALQG | FTSPGMLSLG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QASAWQQHHL | GQAALSSLVA | GGQLSQGSNL | SINTNQNINI | KSEPISPPRD | RMTPSGFQQQ |
| 430 | 440 | 450 | 460 | 470 | 480 |
| QQQPQQQPPP | QPPQPQPRQE | MGRSPVDSLS | SSSSSYDGSD | REDPRGDFHS | PIVLGRPPNT |
| 490 | |||||
| EDRESPSVKR | MRMDTWVT |