Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	3848
Gene name Gene Name - the full gene name approved by the HGNC.	Keratin 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	KRT1
Synonyms (NCBI Gene) Gene synonyms aliases	AEI2, CK1, EHK, EHK1, EPPK, K1, KRT1A, NEPPK
Chromosome Chromosome number	12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	12q13.13
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(21)

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

Show/Hide all(43)

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

Show/Hide all(37)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001533	Component	Cornified envelope	IDA	7543090
GO:0001533	Component	Cornified envelope	IEA
GO:0001867	Process	Complement activation, lectin pathway	IPI	11549596
GO:0005515	Function	Protein binding	IPI	11290596, 16923132, 20562859, 24940650, 25910212, 27595935, 32296183, 39009827
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	22664934, 23580065
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005737	Component	Cytoplasm	IDA	32179842
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	TAS	1381288
GO:0005882	Component	Intermediate filament	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0006979	Process	Response to oxidative stress	NAS	11549596
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IDA	11290596
GO:0016020	Component	Membrane	IEA
GO:0018149	Process	Peptide cross-linking	IDA	7543090
GO:0030246	Function	Carbohydrate binding	IPI	11549596
GO:0030280	Function	Structural constituent of skin epidermis	IBA
GO:0030280	Function	Structural constituent of skin epidermis	IDA	7543090
GO:0031424	Process	Keratinization	IBA
GO:0038023	Function	Signaling receptor activity	NAS	11290596
GO:0042730	Process	Fibrinolysis	NAS	11290596
GO:0045095	Component	Keratin filament	IBA
GO:0045095	Component	Keratin filament	IEA
GO:0045095	Component	Keratin filament	IPI	27595935
GO:0045109	Process	Intermediate filament organization	IBA
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:0070062	Component	Extracellular exosome	HDA	11487543, 19199708, 23533145
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:1904813	Component	Ficolin-1-rich granule lumen	TAS

MIM	HGNC	e!Ensembl
139350	6412	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

Tissue specificity

TISSUE SPECIFICITY: The source of this protein is neonatal foreskin. The 67-kDa type II keratins are expressed in terminally differentiating epidermis.

Sequence

MSRQFSSRSGYRSGGGFSSGSAGIINYQRRTTSSSTRRSGGGGGRFSSCGGGGGSFGAGG
GFGSRSLVNLGGSKSISISVARGGGRGSGFGGGYGGGGFGGGGFGGGGFGGGGIGGGGFG
GFGSGGGGFGGGGFGGGGYGGGYGPVCPPGGIQEVTINQSLLQPLNVEIDPEIQKVKSRE
REQIKSLNNQFASFIDKVRFLEQQNQVLQTKWELLQQVDTSTRTHNLEPYFESFINNLRR
RVDQLKSDQSRLDSELKNMQDMVEDYRNKYEDEINKRTNAENEFVTIKKDVDGAYMTKVD
LQAKLDNLQQEIDFLTALYQAELSQMQTQISETNVILSMDNNRSLDLDSIIAEVKAQYED
IAQKSKAEAESLYQSKYEELQITAGRHGDSVRNSKIEISELNRVIQRLRSEIDNVKKQIS
NLQQSISDAEQRGENALKDAKNKLNDLEDALQQAKEDLARLLRDYQELMNTKLALDLEIA
TYRTLLEGEESRMSGECAPNVSVSVSTSHTTISGGGSRGGGGGGYGSGGSSYGSGGGSYG
SGGGGGGGRGSYGSGGSSYGSGGGSYGSGGGGGGHGSYGSGSSSGGYRGGSGGGGGGSSG
GRGSGGGSSGGSIGGRGSSSGGVKSSGGSSSVKFVSTTYSGVTR

Sequence length

644

Interactions

View interactions

	Reactome
			Neutrophil degranulation Keratinization Formation of the cornified envelope

Show/Hide Causal Diseases (4)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Congenital Reticular Ichthyosiform Erythroderma	congenital reticular ichthyosiform erythroderma	rs1555171158	N/A
Ichthyosis with epidermolytic hyperkeratosis	annular epidermolytic ichthyosis	rs57837128	N/A
Nonepidermolytic palmoplantar keratoderma	Diffuse nonepidermolytic palmoplantar keratoderma	rs57977969, rs60447237, rs267607424	N/A
Ichthyosis Hystrix	ichthyosis hystrix of curth-macklin	rs59169454, rs58373389	N/A

Show/Hide Unknown Diseases (4)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Angioedema	Hereditary angioedema with normal C1Inh	N/A	N/A	ClinVar
Congenital Ichthyosis	autosomal recessive congenital ichthyosis 11	N/A	N/A	GenCC
Epidermolytic Ichthyosis	epidermolytic ichthyosis	N/A	N/A	GenCC
Striate Palmoplantar Keratoderma	striate palmoplantar keratoderma	N/A	N/A	GenCC

Show/Hide Text Mining Associations (45)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Alopecia congenita keratosis palmoplantaris	Associate	24346896
Ascites	Associate	30345303
Basal Cell Nevus Syndrome	Associate	11558869
Blister	Associate	40453098
Carcinoma Basal Cell	Associate	31047981
Cataract and congenital ichthyosis	Associate	35964051
Cholesteatoma	Associate	30021014
Encephalitis Herpes Simplex	Associate	8751983
Epidermal Cyst	Associate	11286616
Epidermal Nevus	Associate	17255957
Epidermolysis Bullosa	Associate	11286630, 30152556
Epidermolysis Bullosa Simplex	Associate	12648226, 9856846
Erythema	Associate	30859768
HID Syndrome	Associate	11286616, 29689068
Hyperkeratosis Epidermolytic	Associate	10084317, 11558869, 12406346, 12648226, 14594577, 14708600, 17255957, 24346896, 26581228, 27617465, 28121638, 30152556, 30288772, 30859768, 32898404 View all (15 more)
Hyperkeratosis of the palms and soles and esophageal papillomas	Associate	7528239
Ichthyosiform Erythroderma Congenital	Associate	11286630, 12406346
Ichthyosis	Associate	12406346, 17255957, 26581228, 33081034, 33562614, 7521372
Ichthyosis Cyclic with Epidermolytic Hyperkeratosis	Associate	14594577, 30152556
Ichthyosis Exfoliativa	Associate	7521372
Ichthyosis hystrix Curth Macklin type	Associate	11286616, 16417221, 29689068
Keratoderma Palmoplantar	Associate	11286630, 11558869, 12406346, 16417221, 27617465, 30288772, 34199056, 36076978, 9833037
Keratoderma Palmoplantar Epidermolytic	Associate	11286630, 12406346, 16439967, 25299193, 30288772, 31036554, 32898404, 34199056, 9833037
Keratosis palmoplantaris striata 1	Associate	11982762, 19157795
Lichen Planus Oral	Associate	24608215
Lupus Erythematosus Systemic	Inhibit	19089296
Lupus Erythematosus Systemic	Associate	29028840
Lymphedema	Associate	35964051
Melanoma	Associate	33441834
Myasthenia Gravis	Associate	35802752
Neoplasms	Inhibit	15140235
Neoplasms	Associate	33441834, 35361846
Neoplasms Glandular and Epithelial	Associate	23264211
Nevus	Associate	34199056
Periapical Diseases	Associate	23264211
Pneumonia Ventilator Associated	Associate	30128143
Porokeratosis punctata palmaris et plantaris	Associate	9482839
Scleroderma Systemic	Associate	29028840
Skin Diseases	Associate	29028840
Thymoma	Associate	35802752
Trichilemmal Cyst 1	Associate	17091763
Triple Negative Breast Neoplasms	Associate	40595898
Tubular Sweat Gland Adenomas	Associate	16222893
Ulcer	Inhibit	18373736
Urinary Bladder Neoplasms	Associate	12778082, 25050384

KRT1 (keratin 1)