UniProtKB - P23490 (LORI_HUMAN)
Protein
Loricrin
Gene
LORICRIN
Organism
Homo sapiens (Human)
Status
Functioni
Major keratinocyte cell envelope protein.
GO - Molecular functioni
- structural constituent of cytoskeleton Source: ProtInc
- structural constituent of skin epidermis Source: CAFA
GO - Biological processi
- cornification Source: Reactome
- keratinocyte differentiation Source: UniProtKB
- peptide cross-linking Source: UniProtKB
Keywordsi
Biological process | Keratinization |
Enzyme and pathway databases
PathwayCommonsi | P23490 |
Reactomei | R-HSA-6809371, Formation of the cornified envelope |
SIGNORi | P23490 |
Names & Taxonomyi
Protein namesi | Recommended name: LoricrinCurated |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000203782.5 |
HGNCi | HGNC:6663, LORICRIN |
MIMi | 152445, gene |
neXtProti | NX_P23490 |
Subcellular locationi
Nucleus
Other locations
Cytosol
- cytosol Source: Reactome
Nucleus
- nucleoplasm Source: UniProtKB-SubCell
Plasma Membrane
- cornified envelope Source: UniProtKB
Other locations
- cytoplasm Source: MGI
Keywords - Cellular componenti
Cytoplasm, NucleusPathology & Biotechi
Involvement in diseasei
Vohwinkel syndrome with ichthyosis (VSI)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMKeywords - Diseasei
Ichthyosis, Palmoplantar keratodermaOrganism-specific databases
DisGeNETi | 4014 |
MalaCardsi | LORICRIN |
MIMi | 604117, phenotype |
OpenTargetsi | ENSG00000203782 |
Orphaneti | 79395, Keratoderma hereditarium mutilans with ichthyosis 316, Progressive symmetric erythrokeratodermia |
PharmGKBi | PA30426 |
Miscellaneous databases
Pharosi | P23490, Tbio |
Polymorphism and mutation databases
BioMutai | LOR |
DMDMi | 215274015 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000084458 | 1 – 312 | LoricrinAdd BLAST | 312 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Cross-linki | 89 | Isoglutamyl lysine isopeptide (Lys-Gln) (interchain with Q-154); alternate1 Publication | ||
Cross-linki | 89 | Isoglutamyl lysine isopeptide (Lys-Gln) (interchain with Q-216); alternate1 Publication | ||
Cross-linki | 154 | Isoglutamyl lysine isopeptide (Gln-Lys) (interchain with K-89)1 Publication | ||
Cross-linki | 212 | Isoglutamyl lysine isopeptide (Gln-Lys) (interchain with K-312)1 Publication | ||
Cross-linki | 213 | Isoglutamyl lysine isopeptide (Gln-Lys) (interchain with K-312)1 Publication | ||
Cross-linki | 216 | Isoglutamyl lysine isopeptide (Gln-Lys) (interchain with K-89)1 Publication | ||
Cross-linki | 312 | Isoglutamyl lysine isopeptide (Lys-Gln) (interchain with Q-212); alternate1 Publication | ||
Cross-linki | 312 | Isoglutamyl lysine isopeptide (Lys-Gln) (interchain with Q-213); alternate1 Publication |
Post-translational modificationi
Substrate of transglutaminases. Some glutamines and lysines are cross-linked to other loricrin molecules and to SPRRs proteins.
Contains inter- or intramolecular disulfide-bonds.Curated
Keywords - PTMi
Disulfide bond, Isopeptide bondProteomic databases
MassIVEi | P23490 |
PaxDbi | P23490 |
PeptideAtlasi | P23490 |
PRIDEi | P23490 |
ProteomicsDBi | 54114 |
PTM databases
iPTMneti | P23490 |
PhosphoSitePlusi | P23490 |
Expressioni
Gene expression databases
Bgeei | ENSG00000203782, Expressed in upper arm skin and 100 other tissues |
Genevisiblei | P23490, HS |
Organism-specific databases
HPAi | ENSG00000203782, Tissue enriched (skin) |
Interactioni
Protein-protein interaction databases
BioGRIDi | 110198, 15 interactors |
IntActi | P23490, 6 interactors |
STRINGi | 9606.ENSP00000357731 |
Miscellaneous databases
RNActi | P23490, protein |
Family & Domainsi
Keywords - Domaini
RepeatPhylogenomic databases
eggNOGi | ENOG502RU07, Eukaryota |
GeneTreei | ENSGT00840000132175 |
HOGENOMi | CLU_891260_0_0_1 |
InParanoidi | P23490 |
OMAi | GAQEIKI |
OrthoDBi | 48717at2759 |
Family and domain databases
InterProi | View protein in InterPro IPR031700, Loricrin |
PANTHERi | PTHR39228, PTHR39228, 1 hit |
Pfami | View protein in Pfam PF15847, Loricrin, 1 hit |
i Sequence
Sequence statusi: Complete.
P23490-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MSYQKKQPTP QPPVDCVKTS GGGGGGGGSG GGGCGFFGGG GSGGGSSGSG
60 70 80 90 100
CGYSGGGGYS GGGCGGGSSG GGGGGGIGGC GGGSGGSVKY SGGGGSSGGG
110 120 130 140 150
SGCFSSGGGG SGCFSSGGGG SSGGGSGCFS SGGGGSSGGG SGCFSSGGGG
160 170 180 190 200
FSGQAVQCQS YGGVSSGGSS GGGSGCFSSG GGGGSVCGYS GGGSGCGGGS
210 220 230 240 250
SGGSGSGYVS SQQVTQTSCA PQPSYGGGSS GGGGSGGSGC FSSGGGGGSS
260 270 280 290 300
GCGGGSSGIG SGCIISGGGS VCGGGSSGGG GGGSSVGGSG SGKGVPICHQ
310
TQQKQAPTWP SK
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 29 | S → T in AAA36180 (PubMed:2007607).Curated | 1 | |
Sequence conflicti | 29 | S → T in AAA36181 (PubMed:1355480).Curated | 1 | |
Sequence conflicti | 29 | S → T in AAH34690 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 29 | S → T in AAI08291 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_047712 | 29 | S → G1 PublicationCorresponds to variant dbSNP:rs6661601Ensembl. | 1 | |
Natural variantiVAR_065891 | 189 | Y → YSGGG2 PublicationsCorresponds to variant dbSNP:rs11275959Ensembl. | 1 | |
Natural variantiVAR_061676 | 285 | S → F. Corresponds to variant dbSNP:rs56816110EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M61120 mRNA Translation: AAA36180.1 M94077 Genomic DNA Translation: AAA36181.1 AL161636 Genomic DNA No translation available. BC034690 mRNA Translation: AAH34690.1 BC108290 mRNA Translation: AAI08291.1 |
CCDSi | CCDS30870.1 |
PIRi | A38743 |
RefSeqi | NP_000418.2, NM_000427.2 |
Genome annotation databases
Ensembli | ENST00000368742; ENSP00000357731; ENSG00000203782 |
GeneIDi | 4014 |
KEGGi | hsa:4014 |
UCSCi | uc001fbm.4, human |
Keywords - Coding sequence diversityi
PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M61120 mRNA Translation: AAA36180.1 M94077 Genomic DNA Translation: AAA36181.1 AL161636 Genomic DNA No translation available. BC034690 mRNA Translation: AAH34690.1 BC108290 mRNA Translation: AAI08291.1 |
CCDSi | CCDS30870.1 |
PIRi | A38743 |
RefSeqi | NP_000418.2, NM_000427.2 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 110198, 15 interactors |
IntActi | P23490, 6 interactors |
STRINGi | 9606.ENSP00000357731 |
PTM databases
iPTMneti | P23490 |
PhosphoSitePlusi | P23490 |
Polymorphism and mutation databases
BioMutai | LOR |
DMDMi | 215274015 |
Proteomic databases
MassIVEi | P23490 |
PaxDbi | P23490 |
PeptideAtlasi | P23490 |
PRIDEi | P23490 |
ProteomicsDBi | 54114 |
Protocols and materials databases
Antibodypediai | 20374, 77 antibodies |
Genome annotation databases
Ensembli | ENST00000368742; ENSP00000357731; ENSG00000203782 |
GeneIDi | 4014 |
KEGGi | hsa:4014 |
UCSCi | uc001fbm.4, human |
Organism-specific databases
CTDi | 4014 |
DisGeNETi | 4014 |
EuPathDBi | HostDB:ENSG00000203782.5 |
GeneCardsi | LORICRIN |
HGNCi | HGNC:6663, LORICRIN |
HPAi | ENSG00000203782, Tissue enriched (skin) |
MalaCardsi | LORICRIN |
MIMi | 152445, gene 604117, phenotype |
neXtProti | NX_P23490 |
OpenTargetsi | ENSG00000203782 |
Orphaneti | 79395, Keratoderma hereditarium mutilans with ichthyosis 316, Progressive symmetric erythrokeratodermia |
PharmGKBi | PA30426 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502RU07, Eukaryota |
GeneTreei | ENSGT00840000132175 |
HOGENOMi | CLU_891260_0_0_1 |
InParanoidi | P23490 |
OMAi | GAQEIKI |
OrthoDBi | 48717at2759 |
Enzyme and pathway databases
PathwayCommonsi | P23490 |
Reactomei | R-HSA-6809371, Formation of the cornified envelope |
SIGNORi | P23490 |
Miscellaneous databases
BioGRID-ORCSi | 4014, 6 hits in 842 CRISPR screens |
ChiTaRSi | LOR, human |
GeneWikii | Loricrin |
GenomeRNAii | 4014 |
Pharosi | P23490, Tbio |
PROi | PR:P23490 |
RNActi | P23490, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000203782, Expressed in upper arm skin and 100 other tissues |
Genevisiblei | P23490, HS |
Family and domain databases
InterProi | View protein in InterPro IPR031700, Loricrin |
PANTHERi | PTHR39228, PTHR39228, 1 hit |
Pfami | View protein in Pfam PF15847, Loricrin, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | LORI_HUMAN | |
Accessioni | P23490Primary (citable) accession number: P23490 Secondary accession number(s): Q5T869, Q5XKF8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 1, 1991 |
Last sequence update: | November 25, 2008 | |
Last modified: | December 2, 2020 | |
This is version 160 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Direct protein sequencing, Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations