InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MYPN

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

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.

Experimentally validated
Total	13 [view]
Protein-Protein	13 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003779	actin binding
GO:0005515	protein binding
GO:0008092	cytoskeletal protein binding
GO:0017124	SH3 domain binding
GO:0051371	muscle alpha-actinin binding

Biological Process

GO:0045214

sarcomere organization

Cellular Component

GO:0005634	nucleus
GO:0030018	Z disc
GO:0031674	I band

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

PFAM

PF07679
PF07686
PF00047

PRINTS

PIRSF

SMART

SM00408
SM00409

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q86TC9