Entity Details

Primary name LORI_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP23490
EntryNameLORI_HUMAN
FullNameLoricrin
TaxID9606
Evidenceevidence at protein level
Length312
SequenceStatuscomplete
DateCreated1991-11-01
DateModified2021-06-02

Ontological Relatives

GenesLORICRIN

GO terms

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GOName
GO:0001533 cornified envelope
GO:0005200 structural constituent of cytoskeleton
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0018149 peptide cross-linking
GO:0030216 keratinocyte differentiation
GO:0030280 structural constituent of skin epidermis
GO:0070268 cornification

Subcellular Location

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Subcellular Location
Cytoplasm
Nucleus

Domains

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DomainNameCategoryType
IPR031700 LoricrinFamilyFamily

Diseases

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Disease IDSourceNameDescription
604117 OMIMVohwinkel syndrome with ichthyosis (VSI)A variant form of Vohwinkel syndrome without hearing loss and associated with ichthyosiform dermatosis. Clinical features include palmoplantar keratoderma, pseudoainhum and ichthyosis. Compact hyperkeratosis with round retained nuclei and hypergranulosis is observed on skin biopsies. The disease is caused by variants affecting the gene represented in this entry.