Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

P23490 (LORI_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 115. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Loricrin
Gene names
Name:LOR
Synonyms:LRN
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length312 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Major keratinocyte cell envelope protein.

Subcellular location

Cytoplasm. Nucleusnucleoplasm.

Post-translational modification

Substrate of transglutaminases. Some glutamines and lysines are cross-linked to other loricrin molecules and to SPRRs proteins.

Contains inter- or intramolecular disulfide-bonds Probable.

Involvement in disease

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. Ref.5 Ref.7 Ref.8

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 312312Loricrin
PRO_0000084458

Amino acid modifications

Cross-link89Isoglutamyl lysine isopeptide (Lys-Gln) (interchain with Q-154); alternate
Cross-link89Isoglutamyl lysine isopeptide (Lys-Gln) (interchain with Q-216); alternate
Cross-link154Isoglutamyl lysine isopeptide (Gln-Lys) (interchain with K-89); partial
Cross-link212Isoglutamyl lysine isopeptide (Gln-Lys) (interchain with K-312); partial
Cross-link213Isoglutamyl lysine isopeptide (Gln-Lys) (interchain with K-312); partial
Cross-link216Isoglutamyl lysine isopeptide (Gln-Lys) (interchain with K-89); partial
Cross-link312Isoglutamyl lysine isopeptide (Lys-Gln) (interchain with Q-212); alternate
Cross-link312Isoglutamyl lysine isopeptide (Lys-Gln) (interchain with Q-213); alternate

Natural variations

Natural variant291S → G. Ref.4
Corresponds to variant rs6661601 [ dbSNP | Ensembl ].
VAR_047712
Natural variant1891Y → YSGGG.
Corresponds to variant rs11275959 [ dbSNP | Ensembl ].
VAR_065891
Natural variant2851S → F.
Corresponds to variant rs56816110 [ dbSNP | Ensembl ].
VAR_061676

Experimental info

Sequence conflict291S → T in AAA36180. Ref.1
Sequence conflict291S → T in AAA36181. Ref.2
Sequence conflict291S → T in AAH34690. Ref.4
Sequence conflict291S → T in AAI08291. Ref.4

Sequences

Sequence LengthMass (Da)Tools
P23490 [UniParc].

Last modified November 25, 2008. Version 2.
Checksum: A64248C3E4FD698E

FASTA31225,761
        10         20         30         40         50         60 
MSYQKKQPTP QPPVDCVKTS GGGGGGGGSG GGGCGFFGGG GSGGGSSGSG CGYSGGGGYS 

        70         80         90        100        110        120 
GGGCGGGSSG GGGGGGIGGC GGGSGGSVKY SGGGGSSGGG SGCFSSGGGG SGCFSSGGGG 

       130        140        150        160        170        180 
SSGGGSGCFS SGGGGSSGGG SGCFSSGGGG FSGQAVQCQS YGGVSSGGSS GGGSGCFSSG 

       190        200        210        220        230        240 
GGGGSVCGYS GGGSGCGGGS SGGSGSGYVS SQQVTQTSCA PQPSYGGGSS GGGGSGGSGC 

       250        260        270        280        290        300 
FSSGGGGGSS GCGGGSSGIG SGCIISGGGS VCGGGSSGGG GGGSSVGGSG SGKGVPICHQ 

       310 
TQQKQAPTWP SK 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS30870.1.
PIRA38743.
RefSeqNP_000418.2. NM_000427.2.
UniGeneHs.251680.

3D structure databases

ProteinModelPortalP23490.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid110198. 6 interactions.
IntActP23490. 1 interaction.
MINTMINT-1397933.
STRING9606.ENSP00000357731.

PTM databases

PhosphoSiteP23490.

Polymorphism databases

DMDM215274015.

Proteomic databases

PaxDbP23490.
PRIDEP23490.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000368742; ENSP00000357731; ENSG00000203782.
GeneID4014.
KEGGhsa:4014.
UCSCuc001fbm.3. human.

Organism-specific databases

CTD4014.
GeneCardsGC01P153233.
H-InvDBHIX0028739.
HIX0160003.
HGNCHGNC:6663. LOR.
MIM152445. gene.
604117. phenotype.
neXtProtNX_P23490.
Orphanet79395. Keratoderma hereditarium mutilans with ichthyosis.
316. Progressive symmetric erythrokeratodermia.
PharmGKBPA30426.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG145891.
InParanoidP23490.
KOK10385.
OMAYVSSQQV.

Gene expression databases

ArrayExpressP23490.
BgeeP23490.
CleanExHS_LOR.
GenevestigatorP23490.

Family and domain databases

ProtoNetSearch...

Other

GeneWikiLoricrin.
GenomeRNAi4014.
NextBio15748.
PROP23490.
SOURCESearch...

Entry information

Entry nameLORI_HUMAN
AccessionPrimary (citable) accession number: P23490
Secondary accession number(s): Q5T869, Q5XKF8
Entry history
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 statusReviewed (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.

Relevant documents

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM