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LOR loricrin [ Homo sapiens (human) ]

Gene ID: 4014, updated on 23-Sep-2014
Official Symbol
LORprovided by HGNC
Official Full Name
loricrinprovided by HGNC
Primary source
HGNC:HGNC:6663
See related
Ensembl:ENSG00000203782; HPRD:01070; MIM:152445; Vega:OTTHUMG00000013938
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This gene encodes loricrin, a major protein component of the cornified cell envelope found in terminally differentiated epidermal cells. Mutations in this gene are associated with Vohwinkel's syndrome and progressive symmetric erythrokeratoderma, both inherited skin diseases. [provided by RefSeq, Jul 2008]
Location:
1q21
Exon count:
2
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 1 NC_000001.11 (153259703..153262124)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (153232179..153234600)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene proline rich 9 Neighboring gene ribosomal protein, large, P0 pseudogene 4 Neighboring gene peptidoglycan recognition protein 3 Neighboring gene peptidoglycan recognition protein 4

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Clone Names

  • MGC111513

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding, bridging IDA
Inferred from Direct Assay
more info
PubMed 
structural constituent of cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
structural molecule activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
keratinization IEA
Inferred from Electronic Annotation
more info
 
keratinocyte differentiation IDA
Inferred from Direct Assay
more info
PubMed 
peptide cross-linking IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cornified envelope IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IEA
Inferred from Electronic Annotation
more info
 

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011818.1 

    Range
    5001..7422
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000427.2NP_000418.2  loricrin

    See proteins identical to NP_000418.2

    Status: REVIEWED

    Source sequence(s)
    AL161636, BC108290
    Consensus CDS
    CCDS30870.1
    UniProtKB/Swiss-Prot
    P23490
    Related
    ENSP00000357731, OTTHUMP00000015823, ENST00000368742, OTTHUMT00000039107

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000001.11 

    Range
    153259703..153262124
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000133.1 

    Range
    124595566..124597999
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 

    Range
    154627959..154630380
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)