Details for: KRT1

Gene ID: 3848

Symbol: KRT1

Ensembl ID: ENSG00000167768

Description: keratin 1

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 6.7
    Marker Score: 8282
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 2.43
    Marker Score: 4425.5
  • Cell Name: conventional dendritic cell (CL0000990)
    Fold Change: 2.15
    Marker Score: 1485
  • Cell Name: stem cell of epidermis (CL1000428)
    Fold Change: 2.11
    Marker Score: 714
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 1.62
    Marker Score: 1353
  • Cell Name: reticular cell (CL0000432)
    Fold Change: 1.33
    Marker Score: 485
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.16
    Marker Score: 7686
  • Cell Name: inflammatory cell (CL0009002)
    Fold Change: 1.05
    Marker Score: 453
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 1.05
    Marker Score: 802
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 1.04
    Marker Score: 251819
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71836
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48061
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.98
    Marker Score: 2495
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30409
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5352
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2742
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5293
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 0.85
    Marker Score: 1128
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.82
    Marker Score: 800
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1269
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 712
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 401
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: 0.74
    Marker Score: 207
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.7
    Marker Score: 180
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: 0.68
    Marker Score: 295
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.65
    Marker Score: 433
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.61
    Marker Score: 489
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.57
    Marker Score: 150
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.49
    Marker Score: 286
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.47
    Marker Score: 280
  • Cell Name: basophil (CL0000767)
    Fold Change: 0.44
    Marker Score: 210
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 0.44
    Marker Score: 274
  • Cell Name: promyelocyte (CL0000836)
    Fold Change: 0.43
    Marker Score: 215
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.42
    Marker Score: 184
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 0.36
    Marker Score: 3135
  • Cell Name: granulocyte (CL0000094)
    Fold Change: 0.36
    Marker Score: 160
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.33
    Marker Score: 331
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 0.33
    Marker Score: 533
  • Cell Name: group 2 innate lymphoid cell (CL0001069)
    Fold Change: 0.32
    Marker Score: 110
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.28
    Marker Score: 534
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.26
    Marker Score: 91
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.26
    Marker Score: 108
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.25
    Marker Score: 151
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.25
    Marker Score: 3900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.23
    Marker Score: 237
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 0.21
    Marker Score: 118
  • Cell Name: T-helper 22 cell (CL0001042)
    Fold Change: 0.21
    Marker Score: 908
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.21
    Marker Score: 133
  • Cell Name: non-classical monocyte (CL0000875)
    Fold Change: 0.21
    Marker Score: 499
  • Cell Name: reticulocyte (CL0000558)
    Fold Change: 0.2
    Marker Score: 85
  • Cell Name: T follicular helper cell (CL0002038)
    Fold Change: 0.18
    Marker Score: 153
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.18
    Marker Score: 363
  • Cell Name: eosinophil (CL0000771)
    Fold Change: 0.18
    Marker Score: 58
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 0.17
    Marker Score: 1366
  • Cell Name: pericyte (CL0000669)
    Fold Change: 0.15
    Marker Score: 86
  • Cell Name: CD4-positive helper T cell (CL0000492)
    Fold Change: 0.15
    Marker Score: 158
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.14
    Marker Score: 58
  • Cell Name: effector memory CD4-positive, alpha-beta T cell (CL0000905)
    Fold Change: 0.14
    Marker Score: 104
  • Cell Name: endothelial cell of lymphatic vessel (CL0002138)
    Fold Change: 0.14
    Marker Score: 88
  • Cell Name: gamma-delta T cell (CL0000798)
    Fold Change: 0.14
    Marker Score: 93
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.13
    Marker Score: 74.5
  • Cell Name: leukocyte (CL0000738)
    Fold Change: 0.13
    Marker Score: 75
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.13
    Marker Score: 97
  • Cell Name: transitional stage B cell (CL0000818)
    Fold Change: 0.13
    Marker Score: 45
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.12
    Marker Score: 119
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.12
    Marker Score: 122
  • Cell Name: effector memory CD8-positive, alpha-beta T cell (CL0000913)
    Fold Change: 0.12
    Marker Score: 74
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.12
    Marker Score: 716
  • Cell Name: naive thymus-derived CD4-positive, alpha-beta T cell (CL0000895)
    Fold Change: 0.12
    Marker Score: 199
  • Cell Name: group 3 innate lymphoid cell (CL0001071)
    Fold Change: 0.11
    Marker Score: 48
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.1
    Marker Score: 210
  • Cell Name: T cell (CL0000084)
    Fold Change: 0.1
    Marker Score: 168
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: 0.1
    Marker Score: 48
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.09
    Marker Score: 152
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.09
    Marker Score: 44
  • Cell Name: double-positive, alpha-beta thymocyte (CL0000809)
    Fold Change: 0.08
    Marker Score: 162
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.08
    Marker Score: 81
  • Cell Name: plasmacytoid dendritic cell (CL0000784)
    Fold Change: 0.07
    Marker Score: 40
  • Cell Name: activated CD4-positive, alpha-beta T cell, human (CL0001043)
    Fold Change: 0.07
    Marker Score: 33
  • Cell Name: erythroid progenitor cell, mammalian (CL0001066)
    Fold Change: 0.07
    Marker Score: 22
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.07
    Marker Score: 75
  • Cell Name: enucleated reticulocyte (CL0002422)
    Fold Change: 0.07
    Marker Score: 25
  • Cell Name: CD4-positive, alpha-beta memory T cell (CL0000897)
    Fold Change: 0.07
    Marker Score: 39
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.06
    Marker Score: 58
  • Cell Name: exhausted T cell (CL0011025)
    Fold Change: 0.06
    Marker Score: 34
  • Cell Name: epithelial cell of stratum germinativum of esophagus (CL1000447)
    Fold Change: 0.06
    Marker Score: 14
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.06
    Marker Score: 15
  • Cell Name: endothelial cell of sinusoid (CL0002262)
    Fold Change: 0.06
    Marker Score: 14
  • Cell Name: platelet (CL0000233)
    Fold Change: 0.06
    Marker Score: 26
  • Cell Name: oocyte (CL0000023)
    Fold Change: 0.06
    Marker Score: 14
  • Cell Name: innate lymphoid cell (CL0001065)
    Fold Change: 0.06
    Marker Score: 20
  • Cell Name: effector CD8-positive, alpha-beta T cell (CL0001050)
    Fold Change: 0.05
    Marker Score: 46
  • Cell Name: erythroid lineage cell (CL0000764)
    Fold Change: 0.05
    Marker Score: 27
  • Cell Name: CD8-positive, alpha-beta memory T cell (CL0000909)
    Fold Change: 0.05
    Marker Score: 45
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 0.05
    Marker Score: 55
  • Cell Name: late promyelocyte (CL0002151)
    Fold Change: 0.05
    Marker Score: 13
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.05
    Marker Score: 107
  • Cell Name: CD8-positive, alpha-beta T cell (CL0000625)
    Fold Change: 0.05
    Marker Score: 84
  • Cell Name: CD34-positive, CD56-positive, CD117-positive common innate lymphoid precursor, human (CL0001074)
    Fold Change: 0.05
    Marker Score: 14
  • Cell Name: NKp44-negative group 3 innate lymphoid cell, human (CL0001080)
    Fold Change: 0.05
    Marker Score: 11

Hover over a box to see details here...

Hover over a box to see details here...

Hover over a box to see details here...

Other Information

**Key characteristics:** * Protein type: Keratin * Ensembl ID: ENSG00000167768 * Protein function: Component of the skin's cornified envelope * Expression: Significantly expressed in oligodendrocyte precursor cell, microglial cell, conventional dendritic cell, stem cell of epidermis, keratinocyte, reticular cell, goblet cell, inflammatory cell, early T lineage precursor, fallopian tube secretory epithelial cell **Pathways and functions:** * Carbohydrate binding: Keratin 1 is a glycoprotein that binds to carbohydrates on the surface of cells. This binding is important for the stability and integrity of the cornified envelope. * Complement activation: Keratin 1 is a component of the complement system, a complex of proteins that is involved in the immune response. Activation of the complement system by keratin 1 is important for the inflammatory response to pathogens. * Lectin pathway: Keratin 1 is a lectin, a type of protein that binds to specific sugar molecules. This binding is important for the recognition of pathogens by immune cells. * Developmental biology: Keratin 1 is a key component of the skin's epidermis, the outermost layer of the skin. It is involved in the formation of the cornified envelope and provides protection for the underlying tissues. * Fibrinolysis: Keratin 1 is a component of the fibrinolytic cascade, a process that breaks down fibrin, a protein that is involved in blood clotting. Keratin 1 helps to regulate the fibrinolytic cascade and prevents excessive blood clotting. * Formation of the cornified envelope: Keratin 1 is a major component of the cornified envelope, a protective layer that covers the surface of skin. It is formed by the assembly of keratin filaments into a meshwork that provides strength and integrity to the skin. **Clinical significance:** Mutations in the KRT1 gene have been linked to a number of skin disorders, including psoriasis, eczema, and acne. These disorders are characterized by inflammation, dryness, and broken skin. Keratin 1 is also a target for cancer immunotherapy, as it is expressed on the surface of cancer cells. Inhibition of keratin 1 signaling has been shown to inhibit cancer growth, suggesting that it may be a potential treatment for cancer.

Genular Protein ID: 404953078

Symbol: K2C1_HUMAN

Name: Keratin, type II cytoskeletal 1

UniProtKB Accession Codes:

P04264 B2RA01 P85925 P86104 Q14720 Q6GSJ0 Q9H298

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChiTaRS 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 3 EMBL 7 EPD 1 Ensembl 1 GO 27 Gene3D 3 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 11 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 8 OrthoDB 1 PANTHER 2 PDB 6 PDBsum 3 PIR 1 PRIDE 1 PRINTS 1 PRO 1 PROSITE 2 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 REPRODUCTION-2DPAGE 1 RNAct 1 Reactome 3 RefSeq 1 SAM 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SWISS-2DPAGE 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 2580302

Title: Structure of a gene for the human epidermal 67-kDa keratin.

PubMed ID: 2580302

DOI: 10.1073/pnas.82.7.1896

PubMed ID: 10903910

Title: Genomic organization and amplification of the human epidermal type II keratin genes K1 and K5.

PubMed ID: 10903910

DOI: 10.1006/bbrc.2000.3110

PubMed ID: 11286630

Title: Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds.

PubMed ID: 11286630

DOI: 10.1046/j.1523-1747.2001.13041234.x

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16541075

Title: The finished DNA sequence of human chromosome 12.

PubMed ID: 16541075

DOI: 10.1038/nature04569

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 12665801

Title: Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.

PubMed ID: 12665801

DOI: 10.1038/nbt810

PubMed ID: 2581964

Title: Amino acid sequences of mouse and human epidermal type II keratins of Mr 67,000 provide a systematic basis for the structural and functional diversity of the end domains of keratin intermediate filament subunits.

PubMed ID: 2581964

DOI: 10.1016/s0021-9258(18)88900-1

PubMed ID: 8780679

Title: Preferential deimination of keratin K1 and filaggrin during the terminal differentiation of human epidermis.

PubMed ID: 8780679

DOI: 10.1006/bbrc.1996.1240

PubMed ID: 11286616

Title: Evidence for novel functions of the keratin tail emerging from a mutation causing ichthyosis hystrix.

PubMed ID: 11286616

DOI: 10.1046/j.1523-1747.2001.01292.x

PubMed ID: 11841545

Title: Sequential reorganization of cornified cell keratin filaments involving filaggrin-mediated compaction and keratin 1 deimination.

PubMed ID: 11841545

DOI: 10.1046/j.0022-202x.2001.01671.x

PubMed ID: 11982762

Title: Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma.

PubMed ID: 11982762

DOI: 10.1046/j.1523-1747.2002.01750.x

PubMed ID: 14654843

Title: Proteomic characterization of the human centrosome by protein correlation profiling.

PubMed ID: 14654843

DOI: 10.1038/nature02166

PubMed ID: 16923132

Title: Interactions between epiplakin and intermediate filaments.

PubMed ID: 16923132

DOI: 10.1111/j.1346-8138.2006.00127.x

PubMed ID: 16529377

Title: Proteomic comparison of needles from blister rust-resistant and susceptible Pinus strobus seedlings reveals upregulation of putative disease resistance proteins.

PubMed ID: 16529377

DOI: 10.1094/mpmi-19-0150

PubMed ID: 17956333

Title: Interaction of integrin beta1 with cytokeratin 1 in neuroblastoma NMB7 cells.

PubMed ID: 17956333

DOI: 10.1042/bst0351292

PubMed ID: 18602030

Title: A proteomics approach to identify proteins differentially expressed in Douglas-fir seedlings infected by Phellinus sulphurascens.

PubMed ID: 18602030

DOI: 10.1016/j.jprot.2008.06.004

PubMed ID: 18691976

Title: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.

PubMed ID: 18691976

DOI: 10.1016/j.molcel.2008.07.007

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 19412582

Title: Proteomics approach to identify unique xylem sap proteins in Pierce's disease-tolerant Vitis species.

PubMed ID: 19412582

DOI: 10.1007/s12010-009-8620-1

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21544310

Title: Interaction of high-molecular-weight kininogen with endothelial cell binding proteins suPAR, gC1qR and cytokeratin 1 determined by surface plasmon resonance (BiaCore).

PubMed ID: 21544310

DOI: 10.1160/th10-09-0591

PubMed ID: 23895828

Title: Incorrectly annotated keratin derived peptide sequences lead to misleading MS/MS data interpretation.

PubMed ID: 23895828

DOI: 10.1016/j.jprot.2013.07.009

PubMed ID: 24940650

Title: Interaction of plectin with keratins 5 and 14: dependence on several plectin domains and keratin quaternary structure.

PubMed ID: 24940650

DOI: 10.1038/jid.2014.255

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 32179842

Title: Serum lipids, retinoic acid and phenol red differentially regulate expression of keratins K1, K10 and K2 in cultured keratinocytes.

PubMed ID: 32179842

DOI: 10.1038/s41598-020-61640-9

PubMed ID: 27595935

Title: The X-Ray Crystal Structure of the Keratin1-Keratin 10 Helix 2B Heterodimer Reveals Molecular Surface Properties and Biochemical Insights into Human Skin Disease.

PubMed ID: 27595935

DOI: 10.1016/j.jid.2016.08.018

PubMed ID: 1381288

Title: A leucine-->proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis.

PubMed ID: 1381288

DOI: 10.1016/0092-8674(92)90315-4

PubMed ID: 1281859

Title: The two size alleles of human keratin 1 are due to a deletion in the glycine-rich carboxyl-terminal V2 subdomain.

PubMed ID: 1281859

DOI: 10.1111/1523-1747.ep12614149

PubMed ID: 1380725

Title: Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis.

PubMed ID: 1380725

DOI: 10.1126/science.257.5073.1128

PubMed ID: 7512983

Title: Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity.

PubMed ID: 7512983

DOI: 10.1172/jci117132

PubMed ID: 7507151

Title: Mutations in the H1 and 1A domains in the keratin 1 gene in epidermolytic hyperkeratosis.

PubMed ID: 7507151

DOI: 10.1111/1523-1747.ep12371725

PubMed ID: 7507152

Title: Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE).

PubMed ID: 7507152

DOI: 10.1111/1523-1747.ep12371726

PubMed ID: 7528239

Title: A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma.

PubMed ID: 7528239

DOI: 10.1111/1523-1747.ep12412771

PubMed ID: 9856846

Title: An atypical form of bullous congenital ichthyosiform erythroderma is caused by a mutation in the L12 linker region of keratin 1.

PubMed ID: 9856846

DOI: 10.1046/j.1523-1747.1998.00389.x

PubMed ID: 10053007

Title: Cyclic ichthyosis with epidermolytic hyperkeratosis: a phenotype conferred by mutations in the 2B domain of keratin K1.

PubMed ID: 10053007

DOI: 10.1086/302278

PubMed ID: 10232403

Title: An asparagine to threonine substitution in the 1A domain of keratin 1: a novel mutation that causes epidermolytic hyperkeratosis.

PubMed ID: 10232403

DOI: 10.1111/j.1600-0625.1999.tb00359.x

PubMed ID: 10597140

Title: Epidermolytic hyperkeratosis with polycyclic psoriasiform plaques resulting from a mutation in the keratin 1 gene.

PubMed ID: 10597140

DOI: 10.1111/j.1600-0625.1999.tb00309.x

PubMed ID: 10844506

Title: Epidermolytic hyperkeratosis in a Hispanic family resulting from a mutation in the keratin 1 gene.

PubMed ID: 10844506

DOI: 10.1046/j.1365-2230.2000.00625.x

PubMed ID: 10688370

Title: Identification of a novel mutation in keratin 1 in a family with epidermolytic hyperkeratosis.

PubMed ID: 10688370

DOI: 10.1034/j.1600-0625.2000.009001016.x

PubMed ID: 11531804

Title: New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens.

PubMed ID: 11531804

DOI: 10.1046/j.1365-2133.2001.04327.x

PubMed ID: 12406346

Title: Two cases of primarily palmoplantar keratoderma associated with novel mutations in keratin 1.

PubMed ID: 12406346

DOI: 10.1046/j.1523-1747.2002.00186.x

PubMed ID: 12406348

Title: Two novel mutations in the keratin 1 gene in epidermolytic hyperkeratosis.

PubMed ID: 12406348

DOI: 10.1046/j.1523-1747.2002.00061.x

PubMed ID: 21271994

Title: Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis.

PubMed ID: 21271994

DOI: 10.1111/j.1365-2133.2010.10096.x

Sequence Information:

  • Length: 644
  • Mass: 66039
  • Checksum: CE5DDE97388F5017
  • Sequence:
    • MSRQFSSRSG YRSGGGFSSG SAGIINYQRR TTSSSTRRSG GGGGRFSSCG GGGGSFGAGG 
GFGSRSLVNL GGSKSISISV ARGGGRGSGF GGGYGGGGFG GGGFGGGGFG GGGIGGGGFG 
GFGSGGGGFG GGGFGGGGYG GGYGPVCPPG GIQEVTINQS LLQPLNVEID PEIQKVKSRE 
REQIKSLNNQ FASFIDKVRF LEQQNQVLQT KWELLQQVDT STRTHNLEPY FESFINNLRR 
RVDQLKSDQS RLDSELKNMQ DMVEDYRNKY EDEINKRTNA ENEFVTIKKD VDGAYMTKVD 
LQAKLDNLQQ EIDFLTALYQ AELSQMQTQI SETNVILSMD NNRSLDLDSI IAEVKAQYED 
IAQKSKAEAE SLYQSKYEEL QITAGRHGDS VRNSKIEISE LNRVIQRLRS EIDNVKKQIS 
NLQQSISDAE QRGENALKDA KNKLNDLEDA LQQAKEDLAR LLRDYQELMN TKLALDLEIA 
TYRTLLEGEE SRMSGECAPN VSVSVSTSHT TISGGGSRGG GGGGYGSGGS SYGSGGGSYG 
SGGGGGGGRG SYGSGGSSYG SGGGSYGSGG GGGGHGSYGS GSSSGGYRGG SGGGGGGSSG 
GRGSGGGSSG GSIGGRGSSS GGVKSSGGSS SVKFVSTTYS GVTR

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.