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Protein

Loricrin

Gene

LOR

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Major keratinocyte cell envelope protein.

GO - Molecular functioni

  • protein binding, bridging Source: UniProtKB
  • structural constituent of cytoskeleton Source: ProtInc
  • structural constituent of epidermis Source: CAFA
  • structural molecule activity Source: UniProtKB

GO - Biological processi

Keywordsi

Biological processKeratinization

Enzyme and pathway databases

ReactomeiR-HSA-6809371 Formation of the cornified envelope
SIGNORiP23490

Names & Taxonomyi

Protein namesi
Recommended name:
Loricrin
Gene namesi
Name:LOR
Synonyms:LRN
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000203782.5
HGNCiHGNC:6663 LOR
MIMi152445 gene
neXtProtiNX_P23490

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & 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.
See also OMIM:604117

Keywords - Diseasei

Ichthyosis, Palmoplantar keratoderma

Organism-specific databases

DisGeNETi4014
MalaCardsiLOR
MIMi604117 phenotype
OpenTargetsiENSG00000203782
Orphaneti79395 Keratoderma hereditarium mutilans with ichthyosis
316 Progressive symmetric erythrokeratodermia
PharmGKBiPA30426

Polymorphism and mutation databases

BioMutaiLOR
DMDMi215274015

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000844581 – 312LoricrinAdd BLAST312

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Cross-linki89Isoglutamyl lysine isopeptide (Lys-Gln) (interchain with Q-154); alternate1 Publication
Cross-linki89Isoglutamyl lysine isopeptide (Lys-Gln) (interchain with Q-216); alternate1 Publication
Cross-linki154Isoglutamyl lysine isopeptide (Gln-Lys) (interchain with K-89)1 Publication
Cross-linki212Isoglutamyl lysine isopeptide (Gln-Lys) (interchain with K-312)1 Publication
Cross-linki213Isoglutamyl lysine isopeptide (Gln-Lys) (interchain with K-312)1 Publication
Cross-linki216Isoglutamyl lysine isopeptide (Gln-Lys) (interchain with K-89)1 Publication
Cross-linki312Isoglutamyl lysine isopeptide (Lys-Gln) (interchain with Q-212); alternate1 Publication
Cross-linki312Isoglutamyl 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 bond

Proteomic databases

PaxDbiP23490
PeptideAtlasiP23490
PRIDEiP23490
ProteomicsDBi54114

PTM databases

iPTMnetiP23490
PhosphoSitePlusiP23490

Expressioni

Gene expression databases

BgeeiENSG00000203782 Expressed in 94 organ(s), highest expression level in upper arm skin
CleanExiHS_LOR
GenevisibleiP23490 HS

Organism-specific databases

HPAiHPA076123
HPA077266

Interactioni

GO - Molecular functioni

Protein-protein interaction databases

BioGridi110198, 14 interactors
IntActiP23490, 2 interactors
STRINGi9606.ENSP00000357731

Structurei

3D structure databases

ProteinModelPortaliP23490
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Keywords - Domaini

Repeat

Phylogenomic databases

InParanoidiP23490
KOiK10385
OMAiTSCAPQQ

Family and domain databases

InterProiView protein in InterPro
IPR031700 Loricrin
PANTHERiPTHR39228 PTHR39228, 1 hit
PfamiView protein in Pfam
PF15847 Loricrin, 1 hit

Sequencei

Sequence statusi: Complete.

P23490-1 [UniParc]FASTAAdd to basket
« Hide
        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
Length:312
Mass (Da):25,761
Last modified:November 25, 2008 - v2
Checksum:iA64248C3E4FD698E
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti29S → T in AAA36180 (PubMed:2007607).Curated1
Sequence conflicti29S → T in AAA36181 (PubMed:1355480).Curated1
Sequence conflicti29S → T in AAH34690 (PubMed:15489334).Curated1
Sequence conflicti29S → T in AAI08291 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04771229S → G1 PublicationCorresponds to variant dbSNP:rs6661601Ensembl.1
Natural variantiVAR_065891189Y → YSGGG2 PublicationsCorresponds to variant dbSNP:rs11275959Ensembl.1
Natural variantiVAR_061676285S → F. Corresponds to variant dbSNP:rs56816110Ensembl.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
CCDSiCCDS30870.1
PIRiA38743
RefSeqiNP_000418.2, NM_000427.2
UniGeneiHs.251680

Genome annotation databases

EnsembliENST00000368742; ENSP00000357731; ENSG00000203782
GeneIDi4014
KEGGihsa:4014
UCSCiuc001fbm.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar 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
CCDSiCCDS30870.1
PIRiA38743
RefSeqiNP_000418.2, NM_000427.2
UniGeneiHs.251680

3D structure databases

ProteinModelPortaliP23490
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110198, 14 interactors
IntActiP23490, 2 interactors
STRINGi9606.ENSP00000357731

PTM databases

iPTMnetiP23490
PhosphoSitePlusiP23490

Polymorphism and mutation databases

BioMutaiLOR
DMDMi215274015

Proteomic databases

PaxDbiP23490
PeptideAtlasiP23490
PRIDEiP23490
ProteomicsDBi54114

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000368742; ENSP00000357731; ENSG00000203782
GeneIDi4014
KEGGihsa:4014
UCSCiuc001fbm.4 human

Organism-specific databases

CTDi4014
DisGeNETi4014
EuPathDBiHostDB:ENSG00000203782.5
GeneCardsiLOR
H-InvDBiHIX0028739
HIX0160003
HGNCiHGNC:6663 LOR
HPAiHPA076123
HPA077266
MalaCardsiLOR
MIMi152445 gene
604117 phenotype
neXtProtiNX_P23490
OpenTargetsiENSG00000203782
Orphaneti79395 Keratoderma hereditarium mutilans with ichthyosis
316 Progressive symmetric erythrokeratodermia
PharmGKBiPA30426
GenAtlasiSearch...

Phylogenomic databases

InParanoidiP23490
KOiK10385
OMAiTSCAPQQ

Enzyme and pathway databases

ReactomeiR-HSA-6809371 Formation of the cornified envelope
SIGNORiP23490

Miscellaneous databases

GeneWikiiLoricrin
GenomeRNAii4014
PROiPR:P23490
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000203782 Expressed in 94 organ(s), highest expression level in upper arm skin
CleanExiHS_LOR
GenevisibleiP23490 HS

Family and domain databases

InterProiView protein in InterPro
IPR031700 Loricrin
PANTHERiPTHR39228 PTHR39228, 1 hit
PfamiView protein in Pfam
PF15847 Loricrin, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiLORI_HUMAN
AccessioniPrimary (citable) accession number: P23490
Secondary accession number(s): Q5T869, Q5XKF8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1991
Last sequence update: November 25, 2008
Last modified: November 7, 2018
This is version 146 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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