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P23490

- LORI_HUMAN

UniProt

P23490 - LORI_HUMAN

Protein

Loricrin

Gene

LOR

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 116 (01 Oct 2014)
      Sequence version 2 (25 Nov 2008)
      Previous versions | rss
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    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

    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

    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.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    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 – 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

    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.
    ModBaseiSearch...
    MobiDBiSearch...

    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

    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:
    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

    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: October 1, 2014
    This is version 116 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