P23490 (LORI_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Loricrin

Gene names

Name:	LOR
Synonyms:	LRN

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	312 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Major keratinocyte cell envelope protein.
Subcellular location	Cytoplasm. Nucleus › nucleoplasm.
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	Progressive symmetric erythrokeratodermia (PSEK) [MIM:133200]: Erythrokeratodermas are a group of disorders characterized by widespread erythematous plaques, either stationary or migratory, associated with features that include palmoplantar keratoderma. PSEK is characterized by erythematous and hyperkeratotic plaques. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5 Vohwinkel syndrome with ichthyosis (VSI) [MIM:604117]: VSI is an ichthyotic variant of Vohwinkel syndrome characterized by progressive symmetric erythrokeratoderma or congenital ichthyosiform erythroderma born as a collodion baby. Common clinical features include hyperkeratosis of the palms and soles with digital constriction. Deafness is not a constant feature. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7 Ref.8

Ontologies

Keywords
Biological process	Keratinization
Cellular component	Cytoplasm Nucleus
Coding sequence diversity	Polymorphism
Disease	Ichthyosis Palmoplantar keratoderma
Domain	Repeat
PTM	Disulfide bond Isopeptide bond
Technical term	Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological_process	keratinization Inferred from electronic annotation. Source: UniProtKB-KW keratinocyte differentiation Inferred from direct assay PubMed 10908733. Source: UniProtKB peptide cross-linking Inferred from direct assay PubMed 10908733. Source: UniProtKB
Cellular_component	cornified envelope Inferred from direct assay PubMed 10908733. Source: UniProtKB cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell internal side of plasma membrane Inferred from electronic annotation. Source: Compara nucleoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	protein binding, bridging Inferred from direct assay PubMed 10908733. Source: UniProtKB structural constituent of cytoskeleton Traceable author statement Ref.1. Source: ProtInc structural constituent of epidermis Inferred from electronic annotation. Source: Compara
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 312	312	Loricrin		PRO_0000084458
Amino acid modifications
	Cross-link	89		Isoglutamyl lysine isopeptide (Lys-Gln) (interchain with Q-154); alternate
	Cross-link	89		Isoglutamyl lysine isopeptide (Lys-Gln) (interchain with Q-216); alternate
	Cross-link	154		Isoglutamyl lysine isopeptide (Gln-Lys) (interchain with K-89); partial
	Cross-link	212		Isoglutamyl lysine isopeptide (Gln-Lys) (interchain with K-312); partial
	Cross-link	213		Isoglutamyl lysine isopeptide (Gln-Lys) (interchain with K-312); partial
	Cross-link	216		Isoglutamyl lysine isopeptide (Gln-Lys) (interchain with K-89); partial
	Cross-link	312		Isoglutamyl lysine isopeptide (Lys-Gln) (interchain with Q-212); alternate
	Cross-link	312		Isoglutamyl lysine isopeptide (Lys-Gln) (interchain with Q-213); alternate
Natural variations
	Natural variant	29	1	S → G. Ref.4 Corresponds to variant rs6661601 [ dbSNP | Ensembl ].		VAR_047712
	Natural variant	189	1	Y → YSGGG. Corresponds to variant rs11275959 [ dbSNP | Ensembl ].		VAR_065891
	Natural variant	285	1	S → F. Corresponds to variant rs56816110 [ dbSNP | Ensembl ].		VAR_061676
Experimental info
	Sequence conflict	29	1	S → T in AAA36180. Ref.1
	Sequence conflict	29	1	S → T in AAA36181. Ref.2
	Sequence conflict	29	1	S → T in AAH34690. Ref.4
	Sequence conflict	29	1	S → T in AAI08291. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	P23490 [UniParc]. Last modified November 25, 2008. Version 2. Checksum: A64248C3E4FD698E	FASTA	312	25,761
	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

References

	« Hide 'large scale' referencesShow '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. , 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 PSEK.
[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.
IPI	IPI00011673.
PIR	A38743.
RefSeq	NP_000418.2. NM_000427.2.
UniGene	Hs.251680.
3D structure databases
ProteinModelPortal	P23490.
ModBase	Search...
Protein-protein interaction databases
IntAct	P23490. 1 interaction.
MINT	MINT-1397933.
STRING	9606.ENSP00000357731.
PTM databases
PhosphoSite	P23490.
Polymorphism databases
DMDM	215274015.
Proteomic databases
PaxDb	P23490.
PRIDE	P23490.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000368742; ENSP00000357731; ENSG00000203782.
GeneID	4014.
KEGG	hsa:4014.
UCSC	uc001fbm.3. human.
Organism-specific databases
CTD	4014.
GeneCards	GC01P153233.
H-InvDB	HIX0028739. HIX0160003.
HGNC	HGNC:6663. LOR.
MIM	133200. phenotype. 152445. gene. 604117. phenotype.
neXtProt	NX_P23490.
Orphanet	79395. Keratoderma hereditarium mutilans with ichthyosis. 316. Progressive symmetric erythrokeratodermia.
PharmGKB	PA30426.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG145891.
InParanoid	P23490.
KO	K10385.
OrthoDB	EOG42JNTR.
Gene expression databases
ArrayExpress	P23490.
Bgee	P23490.
CleanEx	HS_LOR.
Genevestigator	P23490.
GermOnline	ENSG00000203782. Homo sapiens.
Family and domain databases
ProtoNet	Search...
Other
GenomeRNAi	4014.
NextBio	15748.
SOURCE	Search...

Entry information

Entry name

LORI_HUMAN

Accession

Primary (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:	May 29, 2013
This is version 107 of the entry and version 2 of the sequence. [Complete history]

Entry status

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.