• Gene id: 3848

Gene Summary

• Gene Symbol: KRT1   Gene   UCSC   Ensembl
• Aliases: CK1, EHK, EHK1, EPPK, K1, KRT1A, NEPPK
• Gene name: keratin 1
• Alternate names: keratin, type II cytoskeletal 1, 67 kDa cytokeratin, CK-1, cytokeratin 1, epidermolytic hyperkeratosis 1, hair alpha protein, keratin 1, type II, type-II keratin Kb1,
• Gene location: 12q13.13 (52680406: 52674735)     Exons: 9     NC_000012.12
• Gene summary(Entrez): 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
• OMIM: 139350

Protein Summary

• Protein general information: P04264  
  • Name: Keratin, type II cytoskeletal 1 (67 kDa cytokeratin) (Cytokeratin 1) (CK 1) (Hair alpha protein) (Keratin 1) (K1) (Type II keratin Kb1)
  • Length: 644  
  • Mass: 66,039
• Sequence:

  MSRQFSSRSGYRSGGGFSSGSAGIINYQRRTTSSSTRRSGGGGGRFSSCGGGGGSFGAGGGFGSRSLVNLGGSKS
  ISISVARGGGRGSGFGGGYGGGGFGGGGFGGGGFGGGGIGGGGFGGFGSGGGGFGGGGFGGGGYGGGYGPVCPPG
  GIQEVTINQSLLQPLNVEIDPEIQKVKSREREQIKSLNNQFASFIDKVRFLEQQNQVLQTKWELLQQVDTSTRTH
  NLEPYFESFINNLRRRVDQLKSDQSRLDSELKNMQDMVEDYRNKYEDEINKRTNAENEFVTIKKDVDGAYMTKVD
  LQAKLDNLQQEIDFLTALYQAELSQMQTQISETNVILSMDNNRSLDLDSIIAEVKAQYEDIAQKSKAEAESLYQS
  KYEELQITAGRHGDSVRNSKIEISELNRVIQRLRSEIDNVKKQISNLQQSISDAEQRGENALKDAKNKLNDLEDA
  LQQAKEDLARLLRDYQELMNTKLALDLEIATYRTLLEGEESRMSGECAPNVSVSVSTSHTTISGGGSRGGGGGGY
  GSGGSSYGSGGGSYGSGGGGGGGRGSYGSGGSSYGSGGGSYGSGGGGGGHGSYGSGSSSGGYRGGSGGGGGGSSG
  GRGSGGGSSGGSIGGRGSSSGGVKSSGGSSSVKFVSTTYSGVTR

• Structural information:
  • Protein Domains: IF (180-493)
  • Interpro: IPR001664  IPR018039  IPR032449  IPR032444  IPR003054  
  • Prosite: PS00226 PS51842
  • PDB: 4ZRY
  • PDBsum: 4ZRY
  • STRING: ENSP00000252244
• Other Databases: GeneCards:  KRT1  Malacards:  KRT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001867	complement activation, lectin pathway	IPI	biological process
GO:0001895	retina homeostasis	IEP	biological process
GO:0004872	receptor activity	NAS	molecular function
GO:0005198	structural molecule activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005856	cytoskeleton	TAS	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006979	response to oxidative stress	NAS	biological process
GO:0016020	membrane	IDA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0030246	carbohydrate binding	IPI	molecular function
GO:0031012	extracellular matrix	IDA	cellular component
GO:0042730	fibrinolysis	NAS	biological process
GO:0045095	keratin filament	IEA	cellular component
GO:0045765	regulation of angiogenesis	NAS	biological process
GO:0050728	negative regulation of inflammatory response	IEA	biological process
GO:0061436	establishment of skin barrier	IEA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0072562	blood microparticle	IDA	cellular component
GO:0001867	complement activation, lectin pathway	IPI	biological process
GO:0001895	retina homeostasis	IEP	biological process
GO:0004872	receptor activity	NAS	molecular function
GO:0005198	structural molecule activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005856	cytoskeleton	TAS	cellular component
GO:0005882	intermediate filament	IEA	cellular component
GO:0005882	intermediate filament	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006979	response to oxidative stress	NAS	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0030246	carbohydrate binding	IPI	molecular function
GO:0031012	extracellular matrix	IEA	cellular component
GO:0031012	extracellular matrix	IDA	cellular component
GO:0042730	fibrinolysis	NAS	biological process
GO:0045095	keratin filament	IEA	cellular component
GO:0045095	keratin filament	IEA	cellular component
GO:0045765	regulation of angiogenesis	NAS	biological process
GO:0050728	negative regulation of inflammatory response	IEA	biological process
GO:0061436	establishment of skin barrier	IEA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0072562	blood microparticle	IDA	cellular component
GO:0001867	complement activation, lectin pathway	IPI	biological process
GO:0001895	retina homeostasis	IEP	biological process
GO:0004872	receptor activity	NAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005856	cytoskeleton	TAS	cellular component
GO:0006979	response to oxidative stress	NAS	biological process
GO:0016020	membrane	IDA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0030246	carbohydrate binding	IPI	molecular function
GO:0031012	extracellular matrix	IDA	cellular component
GO:0042730	fibrinolysis	NAS	biological process
GO:0045765	regulation of angiogenesis	NAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0072562	blood microparticle	IDA	cellular component

Diseases

Associated diseases	References
Cancer (Chronic Lymphocytic Leukemia)	GAD: 21121903
Hutchinson-Gilford progeria syndrome	KEGG: H00601
Ichthyosis	OMIM: 139350
Epidermolytic palmoplantar keratoderma	KEGG: H00722
Epidermolytic hyperkeratosis	OMIM: 139350
Adenomyosis	INFBASE: 9689357
Endometriosis	INFBASE: 7540565
Asthenozoospermia	MIK: 25825237
Asthenozoospermia	MIK: 25825237
Male factor infertility	MIK: 7534453
Sertoli cell only syndrome (SCOS)	MIK: 8737044
Palmoplantar keratoderma	KEGG: H01673
Keratosis	OMIM: 139350
Bullous congenital ichthyosiform erythroderma	KEGG: H00691
Striate palmoplantar keratoderma	KEGG: H00717
Asthenozoospermia	MIK: 25825237
Male infertility	MIK: 7534453
Oligoasthenozoospermia	MIK: 7298226
Sertoli-cell-only syndrome (SCOS)	MIK: 8737044
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25825237	Asthenozoospermia				Male infertility	Tubulin beta 2B; glutathione S-transferase Mu 3; keratin type II cytoskeletal 1; outer dense fiber protein 2; voltage-dependent anion-selective channel protein 2; A-kinase anchor protein 4; cytochrome c oxidase subunit 6B; sperm protein associated with t
7534453	Male infertility			228 (10 normal spermatogenesis, 206 with mixed atrophy, 12 with Sertoli Cell Only Syndrome )	Male infertility	cytokeratin  vimentin
8737044	Sertoli-cell-only (SCO) syndrome				Male infertility	AMH  vimentin cytokeratin
7298226	Oligoasthenozoospermia			169 men (11 groups according to etiological diagnosis of infertility, 2 groups on the basis of the normal or abnormal spermiogram)	Male infertility	CK1
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray