Protein: Desmin (Q5XFN2)
Organism: Canis lupus familiaris (Dog) (Canis familiaris)
Function: Muscle-specific type III intermediate filament essential for proper muscular structure and function. Plays a crucial role in maintaining the structure of sarcomeres, inter-connecting the Z-disks and forming the myofibrils, linking them not only to the sarcolemmal cytoskeleton, but also to the nucleus and mitochondria, thus providing strength for the muscle fiber during activity. In adult striated muscle they form a fibrous network connecting myofibrils to each other and to the plasma membrane from the periphery of the Z-line structures. May act as a sarcomeric microtubule-anchoring protein: specifically associates with detyrosinated tubulin-alpha chains, leading to buckled microtubules and mechanical resistance to contraction. Contributes to the transcriptional regulation of the NKX2-5 gene in cardiac progenitor cells during a short period of cardiomyogenesis and in cardiac side population stem cells in the adult. Plays a role in maintaining an optimal conformation of nebulette (NEB) on heart muscle sarcomeres to bind and recruit cardiac alpha-actin.
Subcellular location: Cytoplasm, myofibril, sarcomere, Z line {ECO:0000269|PubMed:24413773}. Cytoplasm {ECO:0000250|UniProtKB:P17661}. Cell membrane, sarcolemma {ECO:0000250|UniProtKB:P17661}. Nucleus {ECO:0000250|UniProtKB:P31001}. Cell tip {ECO:0000250|UniProtKB:P31001}. Nucleus envelope {ECO:0000250|UniProtKB:P31001}. Note=Localizes in the intercalated disks which occur at the Z line of cardiomyocytes. Localizes in the nucleus exclusively in differentiating cardiac progenitor cells and premature cardiomyocytes. PKP2 is required for correct anchoring of DES at the cell tip and nuclear envelope (By similarity). {ECO:0000250|UniProtKB:P17661, ECO:0000250|UniProtKB:P31001}.
Sequence: MSQAYSSSQRVSSYRRTFGGAGGFPLGSPLGSPVFPRAGFGTKGSSSSVTSRVYQVSRTSGGAGGLGALRAGRLGTGRAPSYSAGELLDFSLADAVNQEFLTTRTNEKVELQELNDRFANYIEKVRFLEQQNAALAAEVNRLKGREPTRVAEIYEEELRELRRQVEVLTNQRARVDVERDNLLDDLQRLKAKLQEEIQLKEEAENNLAAFRADVDAATLARIDLERRIESLNEEIAFLKKVHEEEIRELQAQLQEQQVQVEMDMSKPDLTAALRDIRAQYETIAAKNISEAEEWYKSKVSDLTQAANKNNDALRQAKQEMMEYRHQIQSYTCEIDALKGTNDSLMRQMREMEDRFASEASGYQDNIARLEEEIRHLKDEMARHLREYQDLLNVKMALDVEIATYRKLLEGEESRINLPIQTYSALNFRETSPEQRGSEVHTKKTVMIKTIETRDGEVVSEATQQQHEVL
InterPro domains: - IPR050405: Intermediate filament structural protein (family) [5-460]
- IPR006821: Intermediate filament head, DNA-binding domain (domain) [9-105]
- IPR018039: Intermediate filament protein, conserved site (conserved_site) [401-409]
- IPR039008: Intermediate filament, rod domain (domain) [106-415]
Interaction partners: - Phosphate cytidylyltransferase 1, choline, alpha.
Gene Ontology annotations:
Molecular Function (MF): GO:0003674 (molecular function), GO:0005488 (binding), GO:0005515 (protein binding)
Biological Process (BP): GO:0008150 (biological process), GO:0009987 (cellular process), GO:0071840 (cellular component organization or biogenesis), GO:0045103 (intermediate filament-based process), GO:0045104 (intermediate filament cytoskeleton organization), GO:0016043 (cellular component organization), GO:0044085 (cellular component biogenesis), GO:0006996 (organelle organization), GO:0043933 (protein-containing complex organization), GO:0022607 (cellular component assembly), GO:0065003 (protein-containing complex assembly), GO:0007010 (cytoskeleton organization), GO:0051258 (protein polymerization)
Cellular Component (CC): GO:0005575 (cellular component), GO:0110165 (cellular anatomical entity), GO:0005622 (intracellular anatomical structure), GO:0043226 (organelle), GO:0005737 (cytoplasm), GO:0012505 (endomembrane system), GO:0031410 (cytoplasmic vesicle), GO:0043229 (intracellular organelle), GO:0043227 (membrane-bounded organelle), GO:0030133 (transport vesicle), GO:0070382 (exocytic vesicle), GO:0031982 (vesicle), GO:0099503 (secretory vesicle), GO:0043231 (intracellular membrane-bounded organelle), GO:0097708 (intracellular vesicle)