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Loricrin

 LORI_HUMAN              Reviewed;         312 AA.
P23490; Q5T869; Q5XKF8;
01-NOV-1991, integrated into UniProtKB/Swiss-Prot.
25-NOV-2008, sequence version 2.
12-SEP-2018, entry version 145.
RecName: Full=Loricrin;
Name=LOR; Synonyms=LRN;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA], PARTIAL PROTEIN SEQUENCE, GLN-LYS
CROSS-LINKS, AND VARIANT SER-GLY-GLY-GLY-189 INS.
TISSUE=Foreskin;
PubMed=2007607;
Hohl D., Mehrel T., Lichti U., Turner M.L., Roop D.R., Steinert P.M.;
"Characterization of human loricrin. Structure and function of a new
class of epidermal cell envelope proteins.";
J. Biol. Chem. 266:6626-6636(1991).
[2]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT SER-GLY-GLY-GLY-189
INS.
PubMed=1355480;
Yoneda K., Hohl D., McBride O.W., Wang M., Cehrs K.U., Idler W.W.,
Steinert P.M.;
"The human loricrin gene.";
J. Biol. Chem. 267:18060-18066(1992).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=16710414; DOI=10.1038/nature04727;
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.;
"The DNA sequence and biological annotation of human chromosome 1.";
Nature 441:315-321(2006).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS GLY-29 AND
SER-GLY-GLY-GLY-189 INS.
TISSUE=Skin;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[5]
INVOLVEMENT IN VSI.
PubMed=9326323; DOI=10.1086/515518;
Ishida-Yamamoto A., McGrath J.A., Lam H., Iizuka H., Friedman R.A.,
Christiano A.M.;
"The molecular pathology of progressive symmetric erythrokeratoderma:
a frameshift mutation in the loricrin gene and perturbations in the
cornified cell envelope.";
Am. J. Hum. Genet. 61:581-589(1997).
[6]
GLN-LYS CROSS-LINKS WITH SPRR PROTEINS.
PubMed=10066784; DOI=10.1074/jbc.274.11.7226;
Candi E., Tarcsa E., Idler W.W., Kartasova T., Marekov L.N.,
Steinert P.M.;
"Transglutaminase cross-linking properties of the small proline-rich 1
family of cornified cell envelope proteins. Integration with
loricrin.";
J. Biol. Chem. 274:7226-7237(1999).
[7]
INVOLVEMENT IN VSI.
PubMed=12072018; DOI=10.1046/j.1365-2230.2002.01031.x;
O'Driscoll J., Muston G.C., McGrath J.A., Lam H.M., Ashworth J.,
Christiano A.M.;
"A recurrent mutation in the loricrin gene underlies the ichthyotic
variant of Vohwinkel syndrome.";
Clin. Exp. Dermatol. 27:243-246(2002).
[8]
INVOLVEMENT IN VSI.
PubMed=12615358; DOI=10.1016/S0923-1811(02)00143-3;
Ishida-Yamamoto A.;
"Loricrin keratoderma: a novel disease entity characterized by nuclear
accumulation of mutant loricrin.";
J. Dermatol. Sci. 31:3-8(2003).
-!- FUNCTION: Major keratinocyte cell envelope protein.
-!- SUBCELLULAR LOCATION: Cytoplasm. Nucleus, nucleoplasm.
-!- PTM: Substrate of transglutaminases. Some glutamines and lysines
are cross-linked to other loricrin molecules and to SPRRs
proteins.
-!- PTM: Contains inter- or intramolecular disulfide-bonds.
{ECO:0000305}.
-!- 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.
{ECO:0000269|PubMed:12072018, ECO:0000269|PubMed:12615358,
ECO:0000269|PubMed:9326323}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
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EMBL; M61120; AAA36180.1; -; mRNA.
EMBL; M94077; AAA36181.1; -; Genomic_DNA.
EMBL; AL161636; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; BC034690; AAH34690.1; -; mRNA.
EMBL; BC108290; AAI08291.1; -; mRNA.
CCDS; CCDS30870.1; -.
PIR; A38743; A38743.
RefSeq; NP_000418.2; NM_000427.2.
UniGene; Hs.251680; -.
ProteinModelPortal; P23490; -.
BioGrid; 110198; 14.
IntAct; P23490; 2.
STRING; 9606.ENSP00000357731; -.
iPTMnet; P23490; -.
PhosphoSitePlus; P23490; -.
BioMuta; LOR; -.
DMDM; 215274015; -.
PaxDb; P23490; -.
PeptideAtlas; P23490; -.
PRIDE; P23490; -.
ProteomicsDB; 54114; -.
Ensembl; ENST00000368742; ENSP00000357731; ENSG00000203782.
GeneID; 4014; -.
KEGG; hsa:4014; -.
UCSC; uc001fbm.4; human.
CTD; 4014; -.
DisGeNET; 4014; -.
EuPathDB; HostDB:ENSG00000203782.5; -.
GeneCards; LOR; -.
H-InvDB; HIX0028739; -.
H-InvDB; HIX0160003; -.
HGNC; HGNC:6663; LOR.
HPA; HPA076123; -.
HPA; HPA077266; -.
MalaCards; LOR; -.
MIM; 152445; gene.
MIM; 604117; phenotype.
neXtProt; NX_P23490; -.
OpenTargets; ENSG00000203782; -.
Orphanet; 79395; Keratoderma hereditarium mutilans with ichthyosis.
Orphanet; 316; Progressive symmetric erythrokeratodermia.
PharmGKB; PA30426; -.
InParanoid; P23490; -.
KO; K10385; -.
OMA; SSGTVCY; -.
Reactome; R-HSA-6809371; Formation of the cornified envelope.
SIGNOR; P23490; -.
GeneWiki; Loricrin; -.
GenomeRNAi; 4014; -.
PRO; PR:P23490; -.
Proteomes; UP000005640; Chromosome 1.
Bgee; ENSG00000203782; Expressed in 94 organ(s), highest expression level in upper arm skin.
CleanEx; HS_LOR; -.
Genevisible; P23490; HS.
GO; GO:0001533; C:cornified envelope; IDA:UniProtKB.
GO; GO:0005737; C:cytoplasm; IDA:MGI.
GO; GO:0005829; C:cytosol; TAS:Reactome.
GO; GO:0005654; C:nucleoplasm; IEA:UniProtKB-SubCell.
GO; GO:0030674; F:protein binding, bridging; IDA:UniProtKB.
GO; GO:0005200; F:structural constituent of cytoskeleton; TAS:ProtInc.
GO; GO:0030280; F:structural constituent of epidermis; IDA:CAFA.
GO; GO:0005198; F:structural molecule activity; IDA:UniProtKB.
GO; GO:0070268; P:cornification; TAS:Reactome.
GO; GO:0030216; P:keratinocyte differentiation; IDA:UniProtKB.
GO; GO:0018149; P:peptide cross-linking; IDA:UniProtKB.
InterPro; IPR031700; Loricrin.
PANTHER; PTHR39228; PTHR39228; 1.
Pfam; PF15847; Loricrin; 1.
1: Evidence at protein level;
Complete proteome; Cytoplasm; Direct protein sequencing;
Disulfide bond; Ichthyosis; Isopeptide bond; Keratinization; Nucleus;
Palmoplantar keratoderma; Polymorphism; Reference proteome; Repeat.
CHAIN 1 312 Loricrin.
/FTId=PRO_0000084458.
CROSSLNK 89 89 Isoglutamyl lysine isopeptide (Lys-Gln)
(interchain with Q-154); alternate.
{ECO:0000269|PubMed:10066784}.
CROSSLNK 89 89 Isoglutamyl lysine isopeptide (Lys-Gln)
(interchain with Q-216); alternate.
{ECO:0000269|PubMed:10066784}.
CROSSLNK 154 154 Isoglutamyl lysine isopeptide (Gln-Lys)
(interchain with K-89).
{ECO:0000269|PubMed:10066784}.
CROSSLNK 212 212 Isoglutamyl lysine isopeptide (Gln-Lys)
(interchain with K-312).
{ECO:0000269|PubMed:10066784}.
CROSSLNK 213 213 Isoglutamyl lysine isopeptide (Gln-Lys)
(interchain with K-312).
{ECO:0000269|PubMed:10066784}.
CROSSLNK 216 216 Isoglutamyl lysine isopeptide (Gln-Lys)
(interchain with K-89).
{ECO:0000269|PubMed:10066784}.
CROSSLNK 312 312 Isoglutamyl lysine isopeptide (Lys-Gln)
(interchain with Q-212); alternate.
{ECO:0000269|PubMed:10066784}.
CROSSLNK 312 312 Isoglutamyl lysine isopeptide (Lys-Gln)
(interchain with Q-213); alternate.
{ECO:0000269|PubMed:10066784}.
VARIANT 29 29 S -> G (in dbSNP:rs6661601).
{ECO:0000269|PubMed:15489334}.
/FTId=VAR_047712.
VARIANT 189 189 Y -> YSGGG (in dbSNP:rs11275959).
{ECO:0000269|PubMed:1355480,
ECO:0000269|PubMed:2007607}.
/FTId=VAR_065891.
VARIANT 285 285 S -> F (in dbSNP:rs56816110).
/FTId=VAR_061676.
CONFLICT 29 29 S -> T (in Ref. 1; AAA36180, 2; AAA36181
and 4; AAH34690/AAI08291). {ECO:0000305}.
SEQUENCE 312 AA; 25761 MW; A64248C3E4FD698E CRC64;
MSYQKKQPTP QPPVDCVKTS GGGGGGGGSG GGGCGFFGGG GSGGGSSGSG CGYSGGGGYS
GGGCGGGSSG GGGGGGIGGC GGGSGGSVKY SGGGGSSGGG SGCFSSGGGG SGCFSSGGGG
SSGGGSGCFS SGGGGSSGGG SGCFSSGGGG FSGQAVQCQS YGGVSSGGSS GGGSGCFSSG
GGGGSVCGYS GGGSGCGGGS SGGSGSGYVS SQQVTQTSCA PQPSYGGGSS GGGGSGGSGC
FSSGGGGGSS GCGGGSSGIG SGCIISGGGS VCGGGSSGGG GGGSSVGGSG SGKGVPICHQ
TQQKQAPTWP SK


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