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P23490

- LORI_HUMAN

UniProt

P23490 - LORI_HUMAN

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Protein
Loricrin
Gene
LOR, LRN
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Major keratinocyte cell envelope protein.

GO - Molecular functioni

  1. protein binding Source: UniProtKB
  2. protein binding, bridging Source: UniProtKB
  3. structural constituent of cytoskeleton Source: ProtInc
  4. structural molecule activity Source: UniProtKB

GO - Biological processi

  1. keratinization Source: UniProtKB-KW
  2. keratinocyte differentiation Source: UniProtKB
  3. 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: Chromosome 1

Organism-specific databases

HGNCiHGNC:6663. LOR.

Subcellular locationi

GO - Cellular componenti

  1. cornified envelope Source: UniProtKB
  2. cytoplasm Source: UniProtKB-SubCell
  3. nucleoplasm Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Vohwinkel syndrome with ichthyosis (VSI) [MIM:604117]: 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.3 Publications

Keywords - Diseasei

Ichthyosis, Palmoplantar keratoderma

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 312312Loricrin
PRO_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 Inferred.

Keywords - PTMi

Disulfide bond, Isopeptide bond

Proteomic databases

PaxDbiP23490.
PRIDEiP23490.

PTM databases

PhosphoSiteiP23490.

Expressioni

Gene expression databases

ArrayExpressiP23490.
BgeeiP23490.
CleanExiHS_LOR.
GenevestigatoriP23490.

Interactioni

Protein-protein interaction databases

BioGridi110198. 6 interactions.
IntActiP23490. 1 interaction.
MINTiMINT-1397933.
STRINGi9606.ENSP00000357731.

Structurei

3D structure databases

ProteinModelPortaliP23490.

Family & Domainsi

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiNOG145891.
InParanoidiP23490.
KOiK10385.
OMAiYVSSQQV.

Sequencei

Sequence statusi: Complete.

P23490-1 [UniParc]FASTAAdd to Basket

« Hide

MSYQKKQPTP QPPVDCVKTS GGGGGGGGSG GGGCGFFGGG GSGGGSSGSG    50
CGYSGGGGYS GGGCGGGSSG GGGGGGIGGC GGGSGGSVKY SGGGGSSGGG 100
SGCFSSGGGG SGCFSSGGGG SSGGGSGCFS SGGGGSSGGG SGCFSSGGGG 150
FSGQAVQCQS YGGVSSGGSS GGGSGCFSSG GGGGSVCGYS GGGSGCGGGS 200
SGGSGSGYVS SQQVTQTSCA PQPSYGGGSS GGGGSGGSGC FSSGGGGGSS 250
GCGGGSSGIG SGCIISGGGS VCGGGSSGGG GGGSSVGGSG SGKGVPICHQ 300
TQQKQAPTWP SK 312
Length:312
Mass (Da):25,761
Last modified:November 25, 2008 - v2
Checksum:iA64248C3E4FD698E
GO

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.
Corresponds to variant rs11275959 [ dbSNP | Ensembl ].
VAR_065891
Natural varianti285 – 2851S → F.
Corresponds to variant rs56816110 [ dbSNP | Ensembl ].
VAR_061676

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti29 – 291S → T in AAA36180. 1 Publication
Sequence conflicti29 – 291S → T in AAA36181. 1 Publication
Sequence conflicti29 – 291S → T in AAH34690. 1 Publication
Sequence conflicti29 – 291S → T in AAI08291. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.

Polymorphism databases

DMDMi215274015.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS30870.1.
PIRi A38743.
RefSeqi NP_000418.2. NM_000427.2.
UniGenei Hs.251680.

3D structure databases

ProteinModelPortali P23490.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 110198. 6 interactions.
IntActi P23490. 1 interaction.
MINTi MINT-1397933.
STRINGi 9606.ENSP00000357731.

PTM databases

PhosphoSitei P23490.

Polymorphism databases

DMDMi 215274015.

Proteomic databases

PaxDbi P23490.
PRIDEi P23490.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000368742 ; ENSP00000357731 ; ENSG00000203782 .
GeneIDi 4014.
KEGGi hsa:4014.
UCSCi uc001fbm.3. human.

Organism-specific databases

CTDi 4014.
GeneCardsi GC01P153233.
H-InvDB HIX0028739.
HIX0160003.
HGNCi HGNC:6663. LOR.
MIMi 152445. gene.
604117. phenotype.
neXtProti NX_P23490.
Orphaneti 79395. Keratoderma hereditarium mutilans with ichthyosis.
316. Progressive symmetric erythrokeratodermia.
PharmGKBi PA30426.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG145891.
InParanoidi P23490.
KOi K10385.
OMAi YVSSQQV.

Miscellaneous databases

GeneWikii Loricrin.
GenomeRNAii 4014.
NextBioi 15748.
PROi P23490.
SOURCEi Search...

Gene expression databases

ArrayExpressi P23490.
Bgeei P23490.
CleanExi HS_LOR.
Genevestigatori P23490.

Family and domain databases

ProtoNeti Search...

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: July 9, 2014
This is version 115 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

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