Entity Details

Primary name LNP_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9C0E8
EntryNameLNP_HUMAN
FullNameEndoplasmic reticulum junction formation protein lunapark
TaxID9606
Evidenceevidence at protein level
Length428
SequenceStatuscomplete
DateCreated2006-09-05
DateModified2021-06-02

Ontological Relatives

GenesLNPK

GO terms

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GOName
GO:0005654 nucleoplasm
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0007029 endoplasmic reticulum organization
GO:0007596 blood coagulation
GO:0016021 integral component of membrane
GO:0030176 integral component of endoplasmic reticulum membrane
GO:0032330 regulation of chondrocyte differentiation
GO:0035115 embryonic forelimb morphogenesis
GO:0042733 embryonic digit morphogenesis
GO:0042802 identical protein binding
GO:0046872 metal ion binding
GO:0060173 limb development
GO:0071782 endoplasmic reticulum tubular network
GO:0071786 endoplasmic reticulum tubular network organization
GO:0071788 endoplasmic reticulum tubular network maintenance
GO:0098826 endoplasmic reticulum tubular network membrane
GO:1903373 positive regulation of endoplasmic reticulum tubular network organization

Subcellular Location

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Subcellular Location
Endoplasmic reticulum membrane

Domains

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DomainNameCategoryType
IPR019273 Lunapark domainDomainDomain
IPR040115 Lunapark familyFamilyFamily

Diseases

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Disease IDSourceNameDescription
618090 OMIMNeurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum (NEDEHCC)An autosomal recessive disorder characterized by severe psychomotor delay, intellectual disability, hypotonia, epilepsy, and corpus callosum hypoplasia. Some patients show mild cerebellar hypoplasia and atrophy. The disease is caused by variants affecting the gene represented in this entry.