LORICRIN (loricrin cornified envelope precursor protein)

Gene

• Entrez ID: 4014
• Gene name: Loricrin cornified envelope precursor protein
• Gene symbol: LORICRIN
• Synonyms: LOR
• Chromosome: 1
• Chromosome location: 1q21.3
• 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 inh

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs886041212	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1571081028	->T	Likely-pathogenic	Coding sequence variant, frameshift variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001533	Component	Cornified envelope	IBA	21873635
GO:0001533	Component	Cornified envelope	IDA	7543090, 10908733, 11698679
GO:0001533	Component	Cornified envelope	TAS
GO:0005200	Function	Structural constituent of cytoskeleton	TAS	2007607
GO:0005515	Function	Protein binding	IPI	7592852
GO:0005654	Component	Nucleoplasm	IEA
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005737	Component	Cytoplasm	IDA	11698679
GO:0005829	Component	Cytosol	TAS
GO:0007010	Process	Cytoskeleton organization	IEA
GO:0018149	Process	Peptide cross-linking	IDA	10908733
GO:0030216	Process	Keratinocyte differentiation	IDA	10908733
GO:0030280	Function	Structural constituent of skin epidermis	IBA	21873635
GO:0030280	Function	Structural constituent of skin epidermis	IDA	7543090
GO:0070268	Process	Cornification	TAS

Other IDs

• MIM: 152445
• HGNC: 6663
• e!Ensembl: ENSG00000203782

Protein

• UniProt ID: P23490
• Protein name: Loricrin
• Protein function: Major keratinocyte cell envelope protein.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15847	Loricrin	1 → 312	Major keratinocyte cell envelope protein	Family

• Sequence:

  MSYQKKQPTPQPPVDCVKTSGGGGGGGGSGGGGCGFFGGGGSGGGSSGSGCGYSGGGGYS
  GGGCGGGSSGGGGGGGIGGCGGGSGGSVKYSGGGGSSGGGSGCFSSGGGGSGCFSSGGGG
  SSGGGSGCFSSGGGGSSGGGSGCFSSGGGGFSGQAVQCQSYGGVSSGGSSGGGSGCFSSG
  GGGGSVCGYSGGGSGCGGGSSGGSGSGYVSSQQVTQTSCAPQPSYGGGSSGGGGSGGSGC
  FSSGGGGGSSGCGGGSSGIGSGCIISGGGSVCGGGSSGGGGGGSSVGGSGSGKGVPICHQ
  TQQKQAPTWPSK

• Sequence length: 312

Pathways

Reactome:

Formation of the cornified envelope

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Carcinoma	Squamous cell carcinoma	rs121912654, rs555607708, rs786202962, rs1564055259	18572023
Erythrokeratodermia variabilis	Erythrokeratodermia variabilis	rs1114167450, rs1114167451, rs752611378, rs1114167452
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Palmoplantar keratoderma	Keratoderma, Palmoplantar	rs59616921, rs1568039793, rs746488412, rs200564757, rs1567027297, rs781596375, rs1567027610, rs398123054, rs398123055, rs398123056, rs398123057, rs398122949, rs398122950, rs397515639, rs398122951, rs397515640, rs397515641, rs142859678, rs797044479, rs577442939, rs672601344, rs568609861, rs1057518846, rs1182196436, rs1567037561

Unknown
Disease name	Disease term	dbSNP ID	References
Amniotic bands	Amniotic Bands
Congenital nonbullous ichthyosiform erythroderma	Congenital Nonbullous Ichthyosiform Erythroderma
Hyperkeratosis	Hyperkeratosis
Nail dystrophy	Dystrophia unguium
Onychogryposis	Onychogryposis
Parakeratosis	Parakeratosis
Skin cancer	Malignant neoplasm of skin		18572023
Skin neoplasms	Skin Neoplasms		18572023
Vohwinkel syndrome	Vohwinkel Syndrome, Variant Form		17953701, 12072018