KRT1 (keratin 1)

Gene

• Entrez ID: 3848
• Gene name: Keratin 1
• Gene symbol: KRT1
• Synonyms: AEI2, CK1, EHK, EHK1, EPPK, K1, KRT1A, NEPPK
• Chromosome: 12
• Chromosome location: 12q13.13
• Summary: The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified ep

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs57695159	A>G	Not-provided, pathogenic	Missense variant, coding sequence variant
rs57837128	A>G	Pathogenic	Missense variant, coding sequence variant
rs57959072	A>C,T	Not-provided, pathogenic	Missense variant, coding sequence variant
rs57977969	T>A	Not-provided, pathogenic	Missense variant, coding sequence variant
rs58420087	T>C	Not-provided, pathogenic	Missense variant, coding sequence variant
rs58949162	C>A,G	Not-provided, pathogenic	Missense variant, coding sequence variant
rs59151464	G>A	Pathogenic	Missense variant, coding sequence variant
rs59169454	CC>T	Not-provided, pathogenic	Frameshift variant, coding sequence variant
rs59429455	G>T	Not-provided, pathogenic	Missense variant, coding sequence variant
rs60297570	G>A	Pathogenic	Missense variant, coding sequence variant
rs61218439	T>A,C	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61616632	A>C,G	Not-provided, pathogenic	Missense variant, coding sequence variant
rs137853224	C>G	Pathogenic	Coding sequence variant, missense variant
rs137853225	A>G	Pathogenic	Coding sequence variant, missense variant
rs139428176	T>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs199877663	G>C,T	Likely-pathogenic	Missense variant, coding sequence variant
rs267607422	C>A,G,T	Pathogenic, not-provided	Splice donor variant
rs1555171158	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1555171247	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555171527	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1592264179	CCGCCGCC>-	Likely-pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT736922	hsa-miR-495-3p	Luciferase reporter assay, Western blotting, Immunoprecipitaion (IP), qRT-PCR, Flow cytometry	33675276
MIRT1101111	hsa-miR-103a	CLIP-seq
MIRT1101112	hsa-miR-107	CLIP-seq
MIRT1101113	hsa-miR-1266	CLIP-seq
MIRT1101114	hsa-miR-1301	CLIP-seq
MIRT1101115	hsa-miR-137	CLIP-seq
MIRT1101116	hsa-miR-208a	CLIP-seq
MIRT1101117	hsa-miR-208b	CLIP-seq
MIRT1101118	hsa-miR-25	CLIP-seq
MIRT1101119	hsa-miR-3133	CLIP-seq
MIRT1101120	hsa-miR-3150a-3p	CLIP-seq
MIRT1101121	hsa-miR-3153	CLIP-seq
MIRT1101122	hsa-miR-3175	CLIP-seq
MIRT1101123	hsa-miR-32	CLIP-seq
MIRT1101124	hsa-miR-330-3p	CLIP-seq
MIRT1101125	hsa-miR-363	CLIP-seq
MIRT1101126	hsa-miR-3658	CLIP-seq
MIRT1101127	hsa-miR-3664-3p	CLIP-seq
MIRT1101128	hsa-miR-3667-5p	CLIP-seq
MIRT1101129	hsa-miR-367	CLIP-seq
MIRT1101130	hsa-miR-4270	CLIP-seq
MIRT1101131	hsa-miR-4441	CLIP-seq
MIRT1101132	hsa-miR-4518	CLIP-seq
MIRT1101133	hsa-miR-499-5p	CLIP-seq
MIRT1101134	hsa-miR-5047	CLIP-seq
MIRT1101135	hsa-miR-545	CLIP-seq
MIRT1101136	hsa-miR-548p	CLIP-seq
MIRT1101137	hsa-miR-92a	CLIP-seq
MIRT1101138	hsa-miR-92b	CLIP-seq
MIRT1101139	hsa-miR-939	CLIP-seq
MIRT1101111	hsa-miR-103a	CLIP-seq
MIRT1101112	hsa-miR-107	CLIP-seq
MIRT1101114	hsa-miR-1301	CLIP-seq
MIRT1101115	hsa-miR-137	CLIP-seq
MIRT1101118	hsa-miR-25	CLIP-seq
MIRT1101123	hsa-miR-32	CLIP-seq
MIRT1101125	hsa-miR-363	CLIP-seq
MIRT1101129	hsa-miR-367	CLIP-seq
MIRT1101134	hsa-miR-5047	CLIP-seq
MIRT1101135	hsa-miR-545	CLIP-seq
MIRT1101136	hsa-miR-548p	CLIP-seq
MIRT1101137	hsa-miR-92a	CLIP-seq
MIRT1101138	hsa-miR-92b	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001533	Component	Cornified envelope	IDA	7543090
GO:0001867	Process	Complement activation, lectin pathway	IPI	11549596
GO:0001895	Process	Retina homeostasis	HEP	23580065
GO:0005515	Function	Protein binding	IPI	11290596, 16923132, 25910212, 32296183
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	22664934, 23580065
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	TAS	1381288
GO:0006979	Process	Response to oxidative stress	NAS	11549596
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IDA	11290596
GO:0018149	Process	Peptide cross-linking	IDA	7543090
GO:0030246	Function	Carbohydrate binding	IPI	11549596
GO:0030280	Function	Structural constituent of skin epidermis	IDA	7543090
GO:0031424	Process	Keratinization	TAS
GO:0038023	Function	Signaling receptor activity	NAS	11290596
GO:0042730	Process	Fibrinolysis	NAS	11290596
GO:0043312	Process	Neutrophil degranulation	TAS
GO:0045095	Component	Keratin filament	IEA
GO:0045765	Process	Regulation of angiogenesis	NAS	11290596
GO:0046982	Function	Protein heterodimerization activity	IDA	27595935
GO:0050728	Process	Negative regulation of inflammatory response	IEA
GO:0051290	Process	Protein heterotetramerization	IDA	27595935
GO:0061436	Process	Establishment of skin barrier	IEA
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	23658023
GO:0070062	Component	Extracellular exosome	HDA	11487543, 19199708, 23533145
GO:0070268	Process	Cornification	TAS
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:1904813	Component	Ficolin-1-rich granule lumen	TAS

Other IDs

• MIM: 139350
• HGNC: 6412
• e!Ensembl: ENSG00000167768

Protein

• UniProt ID: P04264
• Protein name: Keratin, type II cytoskeletal 1 (67 kDa cytokeratin) (Cytokeratin-1) (CK-1) (Hair alpha protein) (Keratin-1) (K1) (Type-II keratin Kb1)
• Protein function: May regulate the activity of kinases such as PKC and SRC via binding to integrin beta-1 (ITB1) and the receptor of activated protein C kinase 1 (RACK1). In complex with C1QBP is a high affinity receptor for kininogen-1/HMWK. {ECO:0000269|PubMed:
• PDB: 4ZRY, 6E2J, 6UUI
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16208	Keratin_2_head	16 → 176	Keratin type II head	Family
  PF00038	Filament	179 → 492	Intermediate filament protein	Coiled-coil
  PF16210	Keratin_2_tail	493 → 640	Keratin type II cytoskeletal 1 tail	Family

• Sequence:

  MSRQFSSRSGYRSGGGFSSGSAGIINYQRRTTSSSTRRSGGGGGRFSSCGGGGGSFGAGG
  GFGSRSLVNLGGSKSISISVARGGGRGSGFGGGYGGGGFGGGGFGGGGFGGGGIGGGGFG
  GFGSGGGGFGGGGFGGGGYGGGYGPVCPPGGIQEVTINQSLLQPLNVEIDPEIQKVKSRE
  REQIKSLNNQFASFIDKVRFLEQQNQVLQTKWELLQQVDTSTRTHNLEPYFESFINNLRR
  RVDQLKSDQSRLDSELKNMQDMVEDYRNKYEDEINKRTNAENEFVTIKKDVDGAYMTKVD
  LQAKLDNLQQEIDFLTALYQAELSQMQTQISETNVILSMDNNRSLDLDSIIAEVKAQYED
  IAQKSKAEAESLYQSKYEELQITAGRHGDSVRNSKIEISELNRVIQRLRSEIDNVKKQIS
  NLQQSISDAEQRGENALKDAKNKLNDLEDALQQAKEDLARLLRDYQELMNTKLALDLEIA
  TYRTLLEGEESRMSGECAPNVSVSVSTSHTTISGGGSRGGGGGGYGSGGSSYGSGGGSYG
  SGGGGGGGRGSYGSGGSSYGSGGGSYGSGGGGGGHGSYGSGSSSGGYRGGSGGGGGGSSG
  GRGSGGGSSGGSIGGRGSSSGGVKSSGGSSSVKFVSTTYSGVTR

• Sequence length: 644

Pathways

Reactome:

Neutrophil degranulation
Keratinization
Formation of the cornified envelope

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Ichthyosis with epidermolytic hyperkeratosis	Annular epidermolytic ichthyosis	rs59075499, rs57837128
Carcinoma	Squamous cell carcinoma	rs121912654, rs555607708, rs786202962, rs1564055259	18572023
Congenital reticular ichthyosiform erythroderma	Congenital reticular ichthyosiform erythroderma	rs587776815, rs587776816, rs587776817, rs267607384, rs1555171158	25774499
Erythrokeratoderma	Erythrokeratoderma, Reticular	rs753293188, rs1278993777	25774499
Ichthyosis	Ichthyoses	rs199766569, rs587776996, rs587777262, rs863223405, rs370031870, rs1569044747, rs200806519
Ichthyosis hystrix	Ichthyosis hystrix of Curth-Macklin, Ichthyosis hystrix, Curth Macklin type	rs59169454, rs58373389	7528239, 11286630
Keratosis palmoplantaris striata	Keratosis palmoplantaris striata 3	rs121912991, rs727504443
Palmoplantar keratoderma	Keratoderma, Palmoplantar, Diffuse, 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	7528239, 11286630, 17255957
Nonepidermolytic palmoplantar keratoderma	PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC	rs59856285, rs60723330, rs1555573633, rs57977969, rs60447237, rs267607424, rs587777292	11286630, 7528239, 29489036

Unknown
Disease name	Disease term	dbSNP ID	References
Conjunctival hamartoma	Conjunctival hamartoma
Eczema	Eczema
Epidermolytic ichthyosis	Autosomal dominant epidermolytic ichthyosis
Epidermolytic palmoplantar keratoderma	Epidermolytic palmoplantar keratoderma, Keratoderma, Palmoplantar, Epidermolytic		16439967
Epidermolytic palmoplantar keratoderma of vorner	Epidermolytic palmoplantar keratoderma of Vorner, Epidermolytic palmoplantar keratoderma Vorner type		16439967
Exfoliative dermatitis	Exfoliative dermatitis
Hyperkeratosis, epidermolytic	Hyperkeratosis, Epidermolytic		1380725, 7512983, 1381288, 17255957, 7528239, 7507151, 12406348, 10232403, 21271994, 11286630, 9856846, 10688370, 10844506, 11531804, 7507152
Ichthyosis, cyclic, with epidermolytic hyperkeratosis	Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis		10053007, 11286630, 7528239, 10597140
Keratoderma palmoplantar spastic paralysis	Keratoderma palmoplantar spastic paralysis		27639257
Keratosis of greither	Keratosis of Greither
Nail dystrophy	Dystrophia unguium
Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome	Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome
Palmoplantar keratosis	Palmoplantar Keratosis
Skin cancer	Malignant neoplasm of skin		18572023
Skin neoplasms	Skin Neoplasms		18572023
Striate palmoplantar keratoderma	Striate palmoplantar keratoderma		11982762