Q8VIM5
SS
Gene name |
Myocd (Bsac2, Mycd, Srfcp) |
Protein name |
Myocardin |
Names |
Basic SAP coiled-coil transcription activator 2 , SRF cofactor protein |
Species |
Mus musculus (Mouse) |
KEGG Pathway |
mmu:214384 |
EC number |
|
Protein Class |
|
Descriptions
Myocardin (MYOCD) is a transcriptional co-activator that promotes cardiac or smooth muscle gene programs through its interaction with myocyte-enhancing factor (MEF2) or serum-response factor (SRF). Isoforms of MYOCD with a truncated amino terminus show increased activity when compared with those with the full-length amino terminus. The cardiac-specific amino terminus acted in an autoinhibitory fashion to bind MYOCD via specific negatively charged residues and thereby repressed SRF-dependent MYOCD activity. Deletion of N-terminal MDH domain or mutagenesis of the residues within the domain disrupts autoinhibition.
Autoinhibitory domains (AIDs)
Target domain |
697-935 (TAD domain) |
Relief mechanism |
Others |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q8VIM5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8VIM5-F1 | Predicted | AlphaFoldDB |
43 variants for Q8VIM5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs3389154052 | 25 | Q>R | No | EVA | |
| rs3548628199 | 44 | G>C | No | EVA | |
| rs242407615 | 58 | A>T | No | EVA | |
| rs233976818 | 79 | T>N | No | EVA | |
| rs3389165379 | 92 | I>N | No | EVA | |
| rs3402488052 | 147 | A>V | No | EVA | |
| rs26970902 | 158 | S>N | No | EVA | |
| rs264276113 | 170 | E>K | No | EVA | |
| rs258819622 | 187 | A>T | No | EVA | |
| rs3389165597 | 208 | S>T | No | EVA | |
| rs3389160700 | 211 | G>S | No | EVA | |
| rs3389163714 | 226 | T>N | No | EVA | |
| rs3389168472 | 240 | G>A | No | EVA | |
| rs3389168438 | 248 | K>Q | No | EVA | |
| rs3389103488 | 248 | K>R | No | EVA | |
| rs3389154115 | 270 | K>M | No | EVA | |
| rs3389163749 | 282 | Y>N | No | EVA | |
| rs255824348 | 343 | P>L | No | EVA | |
| rs219198506 | 497 | D>E | No | EVA | |
| rs3389179718 | 517 | D>G | No | EVA | |
| rs3389165594 | 570 | T>I | No | EVA | |
| rs3389141980 | 583 | A>T | No | EVA | |
| rs254007255 | 584 | P>A | No | EVA | |
| rs3389165215 | 590 | K>M | No | EVA | |
| rs3389176251 | 592 | Q>H | No | EVA | |
| rs3389160776 | 599 | P>S | No | EVA | |
| rs3548732488 | 603 | C>R | No | EVA | |
| rs3389165614 | 618 | Q>H | No | EVA | |
| rs3402413626 | 626 | F>C | No | EVA | |
| rs3402333516 | 627 | L>I | No | EVA | |
| rs3389130199 | 628 | S>G | No | EVA | |
| rs212111122 | 640 | G>A | No | EVA | |
| rs235421737 | 640 | G>S | No | EVA | |
| rs3548725845 | 682 | A>T | No | EVA | |
| rs214939470 | 713 | D>E | No | EVA | |
| rs3389163693 | 719 | S>Y | No | EVA | |
| rs3389165201 | 733 | Q>R | No | EVA | |
| rs3389173548 | 749 | A>G | No | EVA | |
| rs3389137597 | 765 | P>S | No | EVA | |
| rs217227943 | 800 | S>N | No | EVA | |
| rs3389130215 | 843 | A>T | No | EVA | |
| rs3401109292 | 845 | E>* | No | EVA | |
| rs3389141954 | 919 | V>A | No | EVA |
No associated diseases with Q8VIM5
No regional properties for Q8VIM5
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q8VIM5 | |||
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| nuclear speck | A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy. |
| 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. |
| protein-DNA complex | A macromolecular complex containing both protein and DNA molecules. |
| SRF-myogenin-E12 complex | A transcription factor complex that contains the serum response factor (SRF) and the basic helix-loop-helix proteins myogenin and E12, and is involved in activating transcription of muscle-specific genes. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| histone acetyltransferase binding | Binding to an histone acetyltransferase. |
| histone deacetylase binding | Binding to histone deacetylase. |
| R-SMAD binding | Binding to a receptor-regulated SMAD signaling protein. |
| 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. |
| transcription coactivator activity | A transcription coregulator activity that activates or increases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Coactivators often act by altering chromatin structure and modifications. For example, one class of transcription coactivators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. A fourth class of coactivator activity is the bridging of a DNA-binding transcription factor to the general (basal) transcription machinery. The Mediator complex, which bridges sequence-specific DNA binding transcription factors and RNA polymerase, is also a transcription coactivator. |
47 GO annotations of biological process
| Name | Definition |
|---|---|
| cardiac muscle cell apoptotic process | A form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases, whose actions dismantle a cardiac muscle cell and result in its death. Cardiac muscle cells are striated muscle cells that are responsible for heart contraction. |
| cardiac muscle cell differentiation | The process in which a cardiac muscle precursor cell acquires specialized features of a cardiac muscle cell. Cardiac muscle cells are striated muscle cells that are responsible for heart contraction. |
| cardiac muscle cell myoblast differentiation | The process in which a relatively unspecialized cell acquires specialized features of a cardiac myoblast. A cardiac myoblast is a precursor cell that has been committed to a cardiac muscle cell fate but retains the ability to divide and proliferate throughout life. |
| cardiac vascular smooth muscle cell differentiation | The process in which a relatively unspecialized cell acquires specialized features of a cardiac vascular smooth muscle cell. A cardiac vascular smooth muscle cell covers the heart vasculature and lacks transverse striations in its constituent fibers. |
| cardiac ventricle development | The process whose specific outcome is the progression of a cardiac ventricle over time, from its formation to the mature structure. A cardiac ventricle receives blood from a cardiac atrium and pumps it out of the heart. |
| cell growth involved in cardiac muscle cell development | The growth of a cardiac muscle cell, where growth contributes to the progression of the cell over time from its initial formation to its mature state. |
| cellular component maintenance | The organization process that preserves a cellular component in a stable functional or structural state. |
| chromatin organization | The assembly or remodeling of chromatin composed of DNA complexed with histones, other associated proteins, and sometimes RNA. |
| digestive tract development | The process whose specific outcome is the progression of the digestive tract over time, from its formation to the mature structure. The digestive tract is the anatomical structure through which food passes and is processed. |
| ductus arteriosus closure | The morphogenesis process in which the ductus arteriosus changes to no longer permit blood flow after birth. The ductus arteriosus is the shunt between the aorta and the pulmonary artery which allows blood to bypass the fetus' lungs. |
| 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. |
| hepatic stellate cell activation | A change in the morphology or behavior of a hepatic stellate cell resulting from exposure to a cytokine, chemokine, hormone, cellular ligand or soluble factor. |
| lung alveolus development | The process whose specific outcome is the progression of the alveolus over time, from its formation to the mature structure. The alveolus is a sac for holding air in the lungs; formed by the terminal dilation of air passageways. |
| negative regulation of amyloid-beta clearance | Any process that stops, prevents or reduces the frequency, rate or extent of amyloid-beta clearance. |
| negative regulation of cardiac muscle cell apoptotic process | Any process that decreases the rate or extent of cardiac cell apoptotic process, a form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases whose actions dismantle a cardiac muscle cell and result in its death. |
| negative regulation of cell adhesion molecule production | Any process that decreases the rate, frequency or extent of cell adhesion molecule production. Cell adhesion molecule production is the appearance of a cell adhesion molecule as a result of its biosynthesis or a decrease in its catabolism. |
| negative regulation of myotube differentiation | Any process that decreases the frequency, rate or extent of myotube differentiation. Myotube differentiation is the process in which a relatively unspecialized cell acquires specialized features of a myotube cell. Myotubes are multinucleated cells that are formed when proliferating myoblasts exit the cell cycle, differentiate and fuse. |
| negative regulation of platelet-derived growth factor receptor-beta signaling pathway | Any process that stops, prevents or reduces the frequency, rate or extent of platelet-derived growth factor receptor-beta signaling pathway. |
| negative regulation of skeletal muscle cell differentiation | Any process that stops, prevents or reduces the frequency, rate or extent of skeletal muscle cell differentiation. |
| 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. |
| negative regulation of vascular associated smooth muscle cell migration | Any process that stops, prevents or reduces the frequency, rate or extent of vascular associated smooth muscle cell migration. |
| negative regulation of vascular associated smooth muscle cell proliferation | Any process that stops, prevents or reduces the frequency, rate or extent of vascular smooth muscle cell proliferation. |
| positive regulation of cardiac muscle cell differentiation | Any process that activates or increases the frequency, rate or extent of cardiac muscle cell differentiation. |
| positive regulation of cell population proliferation | Any process that activates or increases the rate or extent of cell proliferation. |
| 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 epithelial to mesenchymal transition | Any process that increases the rate, frequency, or extent of epithelial to mesenchymal transition. Epithelial to mesenchymal transition is where an epithelial cell loses apical/basolateral polarity, severs intercellular adhesive junctions, degrades basement membrane components and becomes a migratory mesenchymal cell. |
| 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 miRNA transcription | Any process that activates or increases the frequency, rate or extent of microRNA (miRNA) gene transcription. |
| positive regulation of smooth muscle cell differentiation | Any process that activates or increases the frequency, rate or extent of smooth muscle cell differentiation. |
| positive regulation of smooth muscle contraction | Any process that activates or increases the frequency, rate or extent of smooth muscle contraction. |
| 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. |
| positive regulation of transforming growth factor beta receptor signaling pathway | Any process that activates or increases the frequency, rate or extent of TGF-beta receptor signaling pathway activity. |
| positive regulation of vascular associated smooth muscle cell migration | Any process that activates or increases the frequency, rate or extent of vascular associated smooth muscle cell migration. |
| regulation of cell growth by extracellular stimulus | Any process in which external signals modulate the frequency, rate or extent of cell growth, the irreversible increase in size of a cell over time. |
| regulation of myoblast differentiation | Any process that modulates the frequency, rate or extent of myoblast differentiation. A myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into skeletal muscle fibers. |
| regulation of phenotypic switching | Any process that modulates the frequency, rate or extent of phenotypic switching. |
| regulation of smooth muscle cell differentiation | Any process that modulates the frequency, rate or extent of smooth muscle cell differentiation. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| response to hypoxia | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level. |
| smooth muscle cell differentiation | The process in which a relatively unspecialized cell acquires specialized features of a smooth muscle cell; smooth muscle lacks transverse striations in its constituent fibers and are almost always involuntary. |
| transcription by RNA polymerase II | The synthesis of RNA from a DNA template by RNA polymerase II (RNAP II), originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs). |
| transcription initiation-coupled chromatin remodeling | An epigenetic mechanism of regulation of gene expression that involves chromatin remodeling to capacitate gene expression by either modifying the chromatin fiber, the nucleosomal histones, or the DNA. |
| urinary bladder development | The process whose specific outcome is the progression of the urinary bladder over time, from its formation to the mature structure. The urinary bladder is an elastic, muscular sac situated in the anterior part of the pelvic cavity in which urine collects before excretion. |
| uterus development | The reproductive developmental process whose specific outcome is the progression of the uterus over time, from its formation to the mature structure. |
| vascular associated smooth muscle cell differentiation | The process in which a relatively unspecialized cell acquires specialized features of a vascular smooth muscle cell. |
| vasculogenesis | The differentiation of endothelial cells from progenitor cells during blood vessel development, and the de novo formation of blood vessels and tubes. |
| ventricular cardiac muscle cell differentiation | The process in which a relatively unspecialized cell acquires specialized features of a ventricular cardiac muscle cell. Cardiac muscle cells are striated muscle cells that are responsible for heart contraction. The ventricle is the part of the heart that pumps blood out of the organ. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTLLGSEHSL | LIRRKFRSVL | QLRLQQRRTQ | EQLANQGLIP | PLKGPTEFHD | PRKQLDSAKT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EDSLRRKGRN | RSDRASLVTM | HILQASTAER | SIPTAQMKLK | RARLADDLNE | KIALRPGPLE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LVEKNILPMD | SSVKEAIKGT | EVSLSKAADA | FAFEDDSSRD | GLSPDQARSE | DPQGSTGSTP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DIKSTEAPLD | TIQDLTPGSE | SDKNDAASQP | GNQSDPGKQV | LGPLSTPIPV | HTAVKSKSLG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DSKNRHKKPK | DPKPKVKKLK | YHQYIPPDQK | AEKSPPPMDS | AYARLLQQQQ | LFLQLQILSQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QQQQQQQQQQ | QQQQQQQQQQ | RFSYPGMHQT | HLKEPNEQMA | RNPNPSSTPL | SNTPLSPVKN |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SISGQTGVSS | LKPGPLPPNL | DDLKVSELRQ | QLRIRGLPVS | GTKTALVDRL | RPFQDCAGNP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VPNFGDITTV | TFPVTPNTLP | SYQSSPTGFY | HFGSTSSSPP | ISPASSDLSA | AGSLPDTFTD |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ASPGFGLHAS | PVPACTDESL | LSSLNGGSGP | SEPDGLDSEK | DKMLVEKQKV | INQLTWKLRQ |
| 550 | 560 | 570 | 580 | 590 | 600 |
| EQRQVEELRM | QLQKQKSSCS | DQKPLPFLAT | TIKQEDVSSC | PFAPQQASGK | GQGHSSDSPP |
| 610 | 620 | 630 | 640 | 650 | 660 |
| PACETAQLLP | HCVESSGQTH | VLSSTFLSPQ | CSPQHSPLGG | LKSPQHISLP | PSPNNHYFLA |
| 670 | 680 | 690 | 700 | 710 | 720 |
| SSSGAQRENH | GVSSPSSSQG | CAQMTGLQSS | DKVGPTFSIP | SPTFSKSSSA | VSDITQPPSY |
| 730 | 740 | 750 | 760 | 770 | 780 |
| EDAVKQQMTR | SQQMDELLDV | LIESGEMPAD | AREDHSCLQK | IPKIPGSSCS | PTAIPPKPSA |
| 790 | 800 | 810 | 820 | 830 | 840 |
| SFEQASSGGQ | MAFDHYANDS | DEHLEVLLNS | HSPIGKVSDV | TLLKIGSEEP | PFDSIMDGFP |
| 850 | 860 | 870 | 880 | 890 | 900 |
| GKAAEDLFSA | HELLPGPLSP | MHAQLSPPSV | DSSGLQLSFT | ESPWETMEWL | DLTPPSSTPG |
| 910 | 920 | 930 | |||
| FSNLTSSGPS | IFNIDFLDVT | DLNLNSPMDL | HLQQW |