Homo sapiens Protein: MYPN | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-75918.7 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | MYPN | ||||||||||||||||||
Protein Name | myopalladin | ||||||||||||||||||
Synonyms | |||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Protein | ENSP00000346369 | ||||||||||||||||||
InnateDB Gene | IDBG-75914 (MYPN) | ||||||||||||||||||
Protein Structure |
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UniProt Annotation | |||||||||||||||||||
Function | Component of the sarcomere that tethers together nebulin (skeletal muscle) and nebulette (cardiac muscle) to alpha-actinin, at the Z lines. {ECO:0000269PubMed:11309420}. | ||||||||||||||||||
Subcellular Localization | Cytoplasm. Nucleus {ECO:0000250}. Cytoplasm, myofibril, sarcomere. Note=Bound to sarcomere both at the Z-line periphery and in the central I-band region. | ||||||||||||||||||
Disease Associations | Cardiomyopathy, dilated 1KK (CMD1KK) [MIM:615248]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269PubMed:18006477, ECO:0000269PubMed:22286171, ECO:0000269PubMed:22892539}. Note=The disease is caused by mutations affecting the gene represented in this entry.Cardiomyopathy, familial hypertrophic 22 (CMH22) [MIM:615248]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. Note=The disease is caused by mutations affecting the gene represented in this entry.Cardiomyopathy, familial restrictive 4 (RCM4) [MIM:615248]: A heart disorder characterized by impaired filling of the ventricles with reduced diastolic volume, in the presence of normal or near normal wall thickness and systolic function. {ECO:0000269PubMed:22286171}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||
Tissue Specificity | Expressed in adult skeletal muscle and fetal heart. {ECO:0000269PubMed:11309420}. | ||||||||||||||||||
Comments | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 13 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||
PDB ID | |||||||||||||||||||
InterPro |
IPR003598
Immunoglobulin subtype 2 IPR003599 Immunoglobulin subtype IPR007110 Immunoglobulin-like domain IPR013098 Immunoglobulin I-set IPR013106 Immunoglobulin V-set domain IPR013151 Immunoglobulin |
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PFAM |
PF07679
PF07686 PF00047 |
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PRINTS | |||||||||||||||||||
PIRSF | |||||||||||||||||||
SMART |
SM00408
SM00409 |
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TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | Q86TC9 | ||||||||||||||||||
PhosphoSite | PhosphoSite-Q86TC9 | ||||||||||||||||||
TrEMBL | |||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 84665 | ||||||||||||||||||
UniGene | Hs.741064 | ||||||||||||||||||
RefSeq | |||||||||||||||||||
HUGO | HGNC:23246 | ||||||||||||||||||
OMIM | 608517 | ||||||||||||||||||
CCDS | |||||||||||||||||||
HPRD | 10536 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AC016395 AC024258 AF328296 AK027343 AL512429 AL832002 AL832379 AL834247 | ||||||||||||||||||
GenPept | AAK50625 BAB55048 CAD38923 CAD89906 CAD91155 CAH73747 CAH73748 | ||||||||||||||||||