Entity Details

Primary name MYPN_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ86TC9
EntryNameMYPN_HUMAN
FullNameMyopalladin
TaxID9606
Evidenceevidence at protein level
Length1320
SequenceStatuscomplete
DateCreated2006-06-27
DateModified2021-06-02

Ontological Relatives

GenesMYPN

GO terms

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GOName
GO:0003779 actin binding
GO:0005634 nucleus
GO:0005886 plasma membrane
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules
GO:0007411 axon guidance
GO:0008092 cytoskeletal protein binding
GO:0017124 SH3 domain binding
GO:0030018 Z disc
GO:0030424 axon
GO:0031674 I band
GO:0045214 sarcomere organization
GO:0051371 muscle alpha-actinin binding
GO:0070593 dendrite self-avoidance
GO:0098632 cell-cell adhesion mediator activity

Subcellular Location

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Subcellular Location
Cytoplasm
Nucleus

Domains

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DomainNameCategoryType
IPR003598 Immunoglobulin subtype 2DomainDomain
IPR003599 Immunoglobulin subtypeDomainDomain
IPR007110 Immunoglobulin-like domainDomainDomain
IPR013098 Immunoglobulin I-setDomainDomain
IPR013783 Immunoglobulin-like foldFamilyHomologous superfamily
IPR036179 Immunoglobulin-like domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
617336 OMIMNemaline myopathy 11 (NEM11)An autosomal recessive form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. NEM11 is characterized by slowly progressive muscle weakness and atrophy, mainly affecting the lower limbs and neck. Some patients may have mild cardiac or respiratory involvement, but they do not have respiratory failure. The disease is caused by variants affecting the gene represented in this entry.
615248 OMIMCardiomyopathy, dilated 1KK (CMD1KK)A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. The disease is caused by variants affecting the gene represented in this entry.
615248 OMIMCardiomyopathy, dilated 1KK (CMD1KK)A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. The disease is caused by variants affecting the gene represented in this entry.
615248 OMIMCardiomyopathy, dilated 1KK (CMD1KK)A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. The disease is caused by variants affecting the gene represented in this entry.