Entity Details

Primary name NEXN_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ0ZGT2
EntryNameNEXN_HUMAN
FullNameNexilin
TaxID9606
Evidenceevidence at protein level
Length675
SequenceStatuscomplete
DateCreated2007-09-11
DateModified2021-06-02

Ontological Relatives

GenesNEXN

GO terms

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GOName
GO:0005886 plasma membrane
GO:0005912 adherens junction
GO:0005925 focal adhesion
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules
GO:0007411 axon guidance
GO:0008307 structural constituent of muscle
GO:0015629 actin cytoskeleton
GO:0030018 Z disc
GO:0030334 regulation of cell migration
GO:0030424 axon
GO:0051015 actin filament binding
GO:0051493 regulation of cytoskeleton organization
GO:0070593 dendrite self-avoidance
GO:0098632 cell-cell adhesion mediator activity

Subcellular Location

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Subcellular Location
Cell junction
Cytoplasm

Domains

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DomainNameCategoryType
IPR003599 Immunoglobulin subtypeDomainDomain
IPR007110 Immunoglobulin-like domainDomainDomain
IPR013098 Immunoglobulin I-setDomainDomain
IPR013783 Immunoglobulin-like foldFamilyHomologous superfamily
IPR036179 Immunoglobulin-like domain superfamilyFamilyHomologous superfamily
IPR043204 Basigin-likeFamilyFamily

Diseases

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Disease IDSourceNameDescription
613876 OMIMCardiomyopathy, familial hypertrophic 20 (CMH20)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. The disease is caused by variants affecting the gene represented in this entry.
613122 OMIMCardiomyopathy, dilated 1CC (CMD1CC)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.