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Protein

Loricrin

Gene

LOR

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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 molecule activity Source: UniProtKB

GO - Biological processi

  • keratinization Source: UniProtKB-KW
  • keratinocyte differentiation Source: UniProtKB
  • peptide cross-linking Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Keratinization

Names & Taxonomyi

Protein namesi
Recommended name:
Loricrin
Gene namesi
Name:LOR
Synonyms:LRN
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:6663. LOR.

Subcellular locationi

GO - Cellular componenti

  • cornified envelope Source: UniProtKB
  • cytoplasm Source: MGI
  • nucleoplasm Source: UniProtKB-SubCell
Complete GO annotation...

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

MIMi604117. phenotype.
Orphaneti79395. Keratoderma hereditarium mutilans with ichthyosis.
316. Progressive symmetric erythrokeratodermia.
PharmGKBiPA30426.

Polymorphism and mutation databases

BioMutaiLOR.
DMDMi215274015.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 312312LoricrinPRO_0000084458Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Cross-linki89 – 89Isoglutamyl lysine isopeptide (Lys-Gln) (interchain with Q-154); alternate
Cross-linki89 – 89Isoglutamyl lysine isopeptide (Lys-Gln) (interchain with Q-216); alternate
Cross-linki154 – 154Isoglutamyl lysine isopeptide (Gln-Lys) (interchain with K-89); partial
Cross-linki212 – 212Isoglutamyl lysine isopeptide (Gln-Lys) (interchain with K-312); partial
Cross-linki213 – 213Isoglutamyl lysine isopeptide (Gln-Lys) (interchain with K-312); partial
Cross-linki216 – 216Isoglutamyl lysine isopeptide (Gln-Lys) (interchain with K-89); partial
Cross-linki312 – 312Isoglutamyl lysine isopeptide (Lys-Gln) (interchain with Q-212); alternate
Cross-linki312 – 312Isoglutamyl lysine isopeptide (Lys-Gln) (interchain with Q-213); alternate

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.
PRIDEiP23490.

PTM databases

PhosphoSiteiP23490.

Expressioni

Gene expression databases

BgeeiP23490.
CleanExiHS_LOR.
GenevisibleiP23490. HS.

Interactioni

Protein-protein interaction databases

BioGridi110198. 8 interactions.
IntActiP23490. 1 interaction.
MINTiMINT-1397933.
STRINGi9606.ENSP00000357731.

Structurei

3D structure databases

ProteinModelPortaliP23490.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiNOG145891.
InParanoidiP23490.
KOiK10385.
OMAiVGCVKTS.

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti29 – 291S → T in AAA36180 (PubMed:2007607).Curated
Sequence conflicti29 – 291S → T in AAA36181 (PubMed:1355480).Curated
Sequence conflicti29 – 291S → T in AAH34690 (PubMed:15489334).Curated
Sequence conflicti29 – 291S → T in AAI08291 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti29 – 291S → G.1 Publication
Corresponds to variant rs6661601 [ dbSNP | Ensembl ].
VAR_047712
Natural varianti189 – 1891Y → YSGGG.2 Publications
Corresponds to variant rs11275959 [ dbSNP | Ensembl ].
VAR_065891
Natural varianti285 – 2851S → F.
Corresponds to variant rs56816110 [ dbSNP | Ensembl ].
VAR_061676

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. Translation: CAI19560.1.
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.3. human.

Keywords - Coding sequence diversityi

Polymorphism

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. Translation: CAI19560.1.
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. 8 interactions.
IntActiP23490. 1 interaction.
MINTiMINT-1397933.
STRINGi9606.ENSP00000357731.

PTM databases

PhosphoSiteiP23490.

Polymorphism and mutation databases

BioMutaiLOR.
DMDMi215274015.

Proteomic databases

PaxDbiP23490.
PRIDEiP23490.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000368742; ENSP00000357731; ENSG00000203782.
GeneIDi4014.
KEGGihsa:4014.
UCSCiuc001fbm.3. human.

Organism-specific databases

CTDi4014.
GeneCardsiGC01P153233.
H-InvDBHIX0028739.
HIX0160003.
HGNCiHGNC:6663. LOR.
MIMi152445. gene.
604117. phenotype.
neXtProtiNX_P23490.
Orphaneti79395. Keratoderma hereditarium mutilans with ichthyosis.
316. Progressive symmetric erythrokeratodermia.
PharmGKBiPA30426.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG145891.
InParanoidiP23490.
KOiK10385.
OMAiVGCVKTS.

Miscellaneous databases

GeneWikiiLoricrin.
GenomeRNAii4014.
NextBioi15748.
PROiP23490.
SOURCEiSearch...

Gene expression databases

BgeeiP23490.
CleanExiHS_LOR.
GenevisibleiP23490. HS.

Family and domain databases

ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Characterization of human loricrin. Structure and function of a new class of epidermal cell envelope proteins."
    Hohl D., Mehrel T., Lichti U., Turner M.L., Roop D.R., Steinert P.M.
    J. Biol. Chem. 266:6626-6636(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], PARTIAL PROTEIN SEQUENCE, GLN-LYS CROSS-LINKS, VARIANT SER-GLY-GLY-GLY-189 INS.
    Tissue: Foreskin.
  2. "The human loricrin gene."
    Yoneda K., Hohl D., McBride O.W., Wang M., Cehrs K.U., Idler W.W., Steinert P.M.
    J. Biol. Chem. 267:18060-18066(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT SER-GLY-GLY-GLY-189 INS.
  3. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS GLY-29 AND SER-GLY-GLY-GLY-189 INS.
    Tissue: Skin.
  5. "The molecular pathology of progressive symmetric erythrokeratoderma: a frameshift mutation in the loricrin gene and perturbations in the cornified cell envelope."
    Ishida-Yamamoto A., McGrath J.A., Lam H., Iizuka H., Friedman R.A., Christiano A.M.
    Am. J. Hum. Genet. 61:581-589(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN VSI.
  6. "Transglutaminase cross-linking properties of the small proline-rich 1 family of cornified cell envelope proteins. Integration with loricrin."
    Candi E., Tarcsa E., Idler W.W., Kartasova T., Marekov L.N., Steinert P.M.
    J. Biol. Chem. 274:7226-7237(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: GLN-LYS CROSS-LINKS WITH SPRR PROTEINS.
  7. "A recurrent mutation in the loricrin gene underlies the ichthyotic variant of Vohwinkel syndrome."
    O'Driscoll J., Muston G.C., McGrath J.A., Lam H.M., Ashworth J., Christiano A.M.
    Clin. Exp. Dermatol. 27:243-246(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN VSI.
  8. "Loricrin keratoderma: a novel disease entity characterized by nuclear accumulation of mutant loricrin."
    Ishida-Yamamoto A.
    J. Dermatol. Sci. 31:3-8(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN VSI.

Entry informationi

Entry nameiLORI_HUMAN
AccessioniPrimary (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: June 24, 2015
This is version 121 of the entry and version 2 of the sequence. [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

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.