InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: NEXN

Summary

InnateDB Protein

IDBP-99843.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

NEXN

Protein Name

nexilin (F actin binding protein)

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000333938

InnateDB Gene

IDBG-99841 (NEXN)

Protein Structure

UniProt Annotation

Function

Involved in regulating cell migration through association with the actin cytoskeleton. Has an essential role in the maintenance of Z line and sarcomere integrity. {ECO:0000269PubMed:12053183, ECO:0000269PubMed:15823560, ECO:0000269PubMed:19881492}.

Subcellular Localization

Cytoplasm, cytoskeleton {ECO:0000250}. Cell junction, adherens junction {ECO:0000250UniProtKB:Q9Z2J4}. Cytoplasm, myofibril, sarcomere, Z line {ECO:0000250}. Note=Localizes to the cell-matrix AJ. Not found at the cell-cell AJ (By similarity). {ECO:0000250UniProtKB:Q9Z2J4, ECO:0000269PubMed:15823560}.

Disease Associations

Cardiomyopathy, dilated 1CC (CMD1CC) [MIM:613122]: 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:19881492}. Note=The disease is caused by mutations affecting the gene represented in this entry.Cardiomyopathy, familial hypertrophic 20 (CMH20) [MIM:613876]: 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. {ECO:0000269PubMed:20970104}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Abundantly expressed in heart and skeletal muscle, and at lower levels in placenta, lung, liver and pancreas. Also expressed in HeLaS3 and MOLT-4 cell lines. {ECO:0000269PubMed:12053183, ECO:0000269PubMed:15823560, ECO:0000269PubMed:19881492}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.

Experimentally validated
Total	10 [view]
Protein-Protein	10 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004683	calmodulin-dependent protein kinase activity
GO:0005515	protein binding
GO:0008307	structural constituent of muscle
GO:0051015	actin filament binding

Biological Process

GO:0006468	protein phosphorylation
GO:0030334	regulation of cell migration
GO:0048739	cardiac muscle fiber development
GO:0051493	regulation of cytoskeleton organization