P04264 (K2C1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 151.
History...
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Keratin, type II cytoskeletal 1 Alternative name(s): 67 kDa cytokeratin Cytokeratin-1 Short name=CK-1 Hair alpha protein Keratin-1 Short name=K1 Type-II keratin Kb1 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 644 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| 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 kinase C (RACK1/GNB2L1). Ref.16 |
| Subunit structure | Heterotetramer of two type I and two type II keratins. Keratin-1 is generally associated with keratin-10. Interacts with ITGB1 in the presence of GNB2L1 and SRC, and with GNB2L1. Ref.16 |
| Subcellular location | Cell membrane. Note: Located on plasma membrane of neuroblastoma NMB7 cells. Ref.16 |
| Tissue specificity | The source of this protein is neonatal foreskin. The 67-kDa type II keratins are expressed in terminally differentiating epidermis. |
| Post-translational modification | Undergoes deimination of some arginine residues (citrullination). |
| Polymorphism | There are two size variants of KRT1, termed allele 1A and allele 1B with allelic frequencies of 0.61 and 0.39. Allele 1B lacks 7 residues compared to allele 1A. |
| Involvement in disease | Defects in KRT1 are a cause of bullous congenital ichthyosiform erythroderma (BCIE) [MIM:113800]; also known as epidermolytic hyperkeratosis (EHK) or bullous erythroderma ichthyosiformis congenita of Brocq. BCIE is an autosomal dominant skin disorder characterized by widespread blistering and an ichthyotic erythroderma at birth that persist into adulthood. Histologically there is a diffuse epidermolytic degeneration in the lower spinous layer of the epidermis. Within a few weeks from birth, erythroderma and blister formation diminish and hyperkeratoses develop. Ref.22 Ref.24 Ref.25 Ref.26 Ref.27 Ref.29 Ref.31 Ref.33 Ref.34 Ref.35 Ref.37 Defects in KRT1 are the cause of ichthyosis hystrix Curth-Macklin type (IHCM) [MIM:146590]. IHCM is a genodermatosis with severe verrucous hyperkeratosis. Affected individuals manifest congenital verrucous black scale on the scalp, neck, and limbs with truncal erythema, palmoplantar keratoderma and keratoses on the lips, ears, nipples and buttocks. Ref.12 Defects in KRT1 are a cause of palmoplantar keratoderma non-epidermolytic (NEPPK) [MIM:600962]. NEPKK is a dermatological disorder characterized by focal palmoplantar keratoderma with oral, genital, and follicular lesions. Ref.3 Ref.28 Defects in KRT1 are a cause of ichthyosis annular epidermolytic (AEI) [MIM:607602]; also known as cyclic ichthyosis with epidermolytic hyperkeratosis. AEI is a skin disorder resembling bullous congenital ichthyosiform erythroderma. Affected individuals present with bullous ichthyosis in early childhood and hyperkeratotic lichenified plaques in the flexural areas and extensor surfaces at later ages. The feature that distinguishes AEI from BCIE is dramatic episodes of flares of annular polycyclic plaques with scale, which coalesce to involve most of the body surface and can persist for several weeks or even months. Ref.30 Ref.32 Defects in KRT1 are the cause of palmoplantar keratoderma striate type 3 (SPPK3) [MIM:607654]; also known as keratosis palmoplantaris striata III. SPPK3 is a dermatological disorder affecting palm and sole skin where stratum corneum and epidermal layers are thickened. There is no involvement of non-palmoplantar skin, and both hair and nails are normal. Ref.14 |
| Miscellaneous | There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II (neutral to basic; 56-70 kDa). |
| Sequence similarities | Belongs to the intermediate filament family. |
Ontologies
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Initiator methionine | 1 | 1 | Removed Ref.7 | ||||||
| Chain | 2 – 644 | 643 | Keratin, type II cytoskeletal 1 | PRO_0000063709 | |||||
Regions | |||||||||
| Region | 2 – 179 | 178 | Head | ||||||
| Region | 180 – 489 | 310 | Rod | ||||||
| Region | 180 – 215 | 36 | Coil 1A | ||||||
| Region | 216 – 234 | 19 | Linker 1 | ||||||
| Region | 235 – 326 | 92 | Coil 1B | ||||||
| Region | 327 – 350 | 24 | Linker 12 | ||||||
| Region | 351 – 489 | 139 | Coil 2 | ||||||
| Region | 490 – 644 | 155 | Tail | ||||||
| Compositional bias | 2 – 151 | 150 | Gly/Phe/Ser-rich | ||||||
| Compositional bias | 502 – 641 | 140 | Gly/Ser-rich | ||||||
Sites | |||||||||
| Site | 433 | 1 | Stutter | ||||||
Amino acid modifications | |||||||||
| Modified residue | 21 | 1 | Phosphoserine Ref.15 Ref.19 Ref.20 | ||||||
| Modified residue | 66 | 1 | Phosphoserine Ref.18 Ref.19 | ||||||
| Modified residue | 82 | 1 | Omega-N-methylarginine Ref.8 | ||||||
| Modified residue | 276 | 1 | N6,N6-dimethyllysine Ref.8 | ||||||
| Modified residue | 295 | 1 | Phosphotyrosine Ref.17 | ||||||
| Modified residue | 297 | 1 | Phosphothreonine Ref.17 | ||||||
| Modified residue | 344 | 1 | Phosphoserine By similarity | ||||||
Natural variations | |||||||||
| Natural variant | 74 | 1 | K → I in NEPPK. Ref.28 Corresponds to variant rs57977969 [ dbSNP | Ensembl ]. | VAR_017819 | |||||
| Natural variant | 155 | 1 | V → D in BCIE. Ref.35 | VAR_017820 | |||||
| Natural variant | 155 | 1 | V → G in BCIE. Ref.26 Corresponds to variant rs57959072 [ dbSNP | Ensembl ]. | VAR_003853 | |||||
| Natural variant | 161 | 1 | L → P in BCIE. Ref.22 Corresponds to variant rs57695159 [ dbSNP | Ensembl ]. | VAR_003854 | |||||
| Natural variant | 176 – 197 | 22 | Missing in palmoplantar keratoderma; and mild ichthyosis largely limited to the flexural areas. | VAR_038627 | |||||
| Natural variant | 186 | 1 | S → P in BCIE. Ref.27 Corresponds to variant rs60022878 [ dbSNP | Ensembl ]. | VAR_003855 | |||||
| Natural variant | 188 | 1 | N → K in BCIE. Ref.37 Corresponds to variant rs59429455 [ dbSNP | Ensembl ]. | VAR_017821 | |||||
| Natural variant | 188 | 1 | N → S in BCIE. Ref.26 Ref.27 Corresponds to variant rs58928370 [ dbSNP | Ensembl ]. | VAR_003856 | |||||
| Natural variant | 188 | 1 | N → T in BCIE; severe. Ref.31 | VAR_017822 | |||||
| Natural variant | 193 | 1 | S → P in BCIE. Ref.26 Corresponds to variant rs60937700 [ dbSNP | Ensembl ]. | VAR_003857 | |||||
| Natural variant | 214 | 1 | L → P in BCIE. Ref.33 Corresponds to variant rs61549035 [ dbSNP | Ensembl ]. | VAR_017823 | |||||
| Natural variant | 312 | 1 | I → V. | VAR_003858 | |||||
| Natural variant | 330 | 1 | I → T. | VAR_003859 | |||||
| Natural variant | 340 | 1 | D → V in BCIE. Ref.29 Corresponds to variant rs58062863 [ dbSNP | Ensembl ]. | VAR_017824 | |||||
| Natural variant | 358 | 1 | Y → N. Ref.1 Ref.2 Corresponds to variant rs1050872 [ dbSNP | Ensembl ]. | VAR_003860 | |||||
| Natural variant | 454 | 1 | A → S. Corresponds to variant rs17678945 [ dbSNP | Ensembl ]. | VAR_038628 | |||||
| Natural variant | 459 – 466 | 8 | Missing in palmoplantar keratoderma; and mild ichthyosis largely limited to the flexural areas. | VAR_038629 | |||||
| Natural variant | 479 | 1 | I → F in AEI. Ref.30 Ref.32 Corresponds to variant rs61218439 [ dbSNP | Ensembl ]. | VAR_017825 | |||||
| Natural variant | 479 | 1 | I → T in AEI and BCIE. Ref.30 Ref.34 Corresponds to variant rs57837128 [ dbSNP | Ensembl ]. | VAR_017826 | |||||
| Natural variant | 482 | 1 | Y → C in BCIE. Ref.25 Corresponds to variant rs58420087 [ dbSNP | Ensembl ]. | VAR_017827 | |||||
| Natural variant | 486 | 1 | L → P in BCIE. Ref.37 Corresponds to variant rs56914602 [ dbSNP | Ensembl ]. | VAR_017828 | |||||
| Natural variant | 490 | 1 | E → Q in BCIE. Ref.24 Corresponds to variant rs60279707 [ dbSNP | Ensembl ]. | VAR_003861 | |||||
| Natural variant | 537 | 1 | G → C. Ref.9 | VAR_003862 | |||||
| Natural variant | 560 – 566 | 7 | Missing in allele 1B. | VAR_003864 | |||||
| Natural variant | 633 | 1 | K → R. Ref.1 Ref.2 Ref.3 Ref.6 Ref.9 Corresponds to variant rs14024 [ dbSNP | Ensembl ]. | VAR_003863 | |||||
Experimental info | |||||||||
| Sequence conflict | 201 | 1 | L → M in AAA36153. Ref.9 | ||||||
| Sequence conflict | 206 | 1 | Q → K in AAA36153. Ref.9 | ||||||
| Sequence conflict | 238 | 1 | L → S in AAA36153. Ref.9 | ||||||
| Sequence conflict | 344 – 345 | 2 | SL → QF in AAA36153. Ref.9 | ||||||
| Sequence conflict | 403 | 1 | R → H in BAG36698. Ref.4 | ||||||
| Sequence conflict | 404 | 1 | V → M in AAA36153. Ref.9 | ||||||
| Sequence conflict | 447 | 1 | L → M in AAA36153. Ref.9 | ||||||
| Sequence conflict | 463 | 1 | R → C in AAA36153. Ref.9 | ||||||
| Sequence conflict | 466 | 1 | Q → H in AAA36153. Ref.9 | ||||||
| Sequence conflict | 504 | 1 | S → T in AAA36153. Ref.9 | ||||||
| Sequence conflict | 511 – 512 | 2 | TI → SM in AAA36153. Ref.9 | ||||||
| Sequence conflict | 564 | 1 | G → S in AAA36153. Ref.9 | ||||||
| Sequence conflict | 613 | 1 | I → S in AAA36153. Ref.9 | ||||||
| Sequence conflict | 638 | 1 | T → S in AAA36153. Ref.9 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Structure of a gene for the human epidermal 67-kDa keratin." Johnson L.D., Idler W.W., Zhou X.-M., Roop D.R., Steinert P.M. Proc. Natl. Acad. Sci. U.S.A. 82:1896-1900(1985) [PubMed: 2580302] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS ASN-358 AND ARG-633. |
| [2] | "Genomic organization and amplification of the human epidermal type II keratin genes K1 and K5." Whittock N.V., Eady R.A.J., McGrath J.A. Biochem. Biophys. Res. Commun. 274:149-152(2000) [PubMed: 10903910] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS ASN-358 AND ARG-633. |
| [3] | "Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds." Hatsell S.J., Eady R.A.J., Wennerstrand L., Dopping-Hepenstal P.J., Leigh I.M., Munro C., Kelsell D.P. J. Invest. Dermatol. 116:606-609(2001) [PubMed: 11286630] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], INVOLVEMENT IN NEPPK, VARIANT ARG-633. |
| [4] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Tongue. |
| [5] | "The finished DNA sequence of human chromosome 12." Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R. Gibbs R.A.Nature 440:346-351(2006) [PubMed: 16541075] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ARG-633. Tissue: Skin. |
| [7] | "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides." Gevaert K., Goethals M., Martens L., Van Damme J., Staes A., Thomas G.R., Vandekerckhove J. Nat. Biotechnol. 21:566-569(2003) [PubMed: 12665801] [Abstract] Cited for: PROTEIN SEQUENCE OF 2-8. Tissue: Platelet. |
| [8] | Bienvenut W.V., Lilla S., von Kriegsheim A., Lempens A., Kolch W. Submitted (DEC-2008) to UniProtKB Cited for: PROTEIN SEQUENCE OF 13-30; 66-82; 186-240; 258-276; 278-298; 344-355; 365-386; 396-403; 408-416; 418-432; 442-455 AND 461-588, METHYLATION AT ARG-82 AND LYS-276, MASS SPECTROMETRY. Tissue: Ovarian carcinoma. |
| [9] | "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." Steinert P.M., Parry D.A.D., Idler W.W., Johnson L.D., Steven A.C., Roop D.R. J. Biol. Chem. 260:7142-7149(1985) [PubMed: 2581964] [Abstract] Cited for: PRELIMINARY NUCLEOTIDE SEQUENCE [MRNA] OF 152-644, VARIANTS CYS-537 AND ARG-633. |
| [10] | Lubec G., Chen W.-Q., Sun Y. Submitted (DEC-2008) to UniProtKB Cited for: PROTEIN SEQUENCE OF 377-386, MASS SPECTROMETRY. Tissue: Fetal brain cortex. |
| [11] | "Preferential deimination of keratin K1 and filaggrin during the terminal differentiation of human epidermis." Senshu T., Kan S., Ogawa H., Manabe M., Asaga H. Biochem. Biophys. Res. Commun. 225:712-719(1996) [PubMed: 8780679] [Abstract] Cited for: CITRULLINATION. |
| [12] | "Evidence for novel functions of the keratin tail emerging from a mutation causing ichthyosis hystrix." Sprecher E., Ishida-Yamamoto A., Becker O.M., Marekov L.N., Miller C.J., Steinert P.M., Neldner K., Richard G. J. Invest. Dermatol. 116:511-519(2001) [PubMed: 11286616] [Abstract] Cited for: INVOLVEMENT IN IHCM. |
| [13] | "Sequential reorganization of cornified cell keratin filaments involving filaggrin-mediated compaction and keratin 1 deimination." Ishida-Yamamoto A., Senshu T., Eady R.A.J., Takahashi H., Shimizu H., Akiyama M., Iizuka H. J. Invest. Dermatol. 118:282-287(2002) [PubMed: 11841545] [Abstract] Cited for: CITRULLINATION. |
| [14] | "Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma." Whittock N.V., Smith F.J., Wan H., Mallipeddi R., Griffiths W.A.D., Dopping-Hepenstal P.J., Ashton G.H.S., Eady R.A.J., McLean W.H.I., McGrath J.A. J. Invest. Dermatol. 118:838-844(2002) [PubMed: 11982762] [Abstract] Cited for: INVOLVEMENT IN SPPK3. |
| [15] | "Phosphoproteome analysis of the human mitotic spindle." Nousiainen M., Sillje H.H.W., Sauer G., Nigg E.A., Koerner R. Proc. Natl. Acad. Sci. U.S.A. 103:5391-5396(2006) [PubMed: 16565220] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-21, MASS SPECTROMETRY. Tissue: Cervix adenocarcinoma. |
| [16] | "Interaction of integrin beta1 with cytokeratin 1 in neuroblastoma NMB7 cells." Chuang N.N., Huang C.C. Biochem. Soc. Trans. 35:1292-1294(2007) [PubMed: 17956333] [Abstract] Cited for: FUNCTION, INTERACTION WITH GNB2L1 AND ITGB1, SUBCELLULAR LOCATION, IDENTIFICATION BY MASS SPECTROMETRY. |
| [17] | "Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra." Yu L.-R., Zhu Z., Chan K.C., Issaq H.J., Dimitrov D.S., Veenstra T.D. J. Proteome Res. 6:4150-4162(2007) [PubMed: 17924679] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-295 AND THR-297, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [18] | "Evaluation of the low-specificity protease elastase for large-scale phosphoproteome analysis." Wang B., Malik R., Nigg E.A., Korner R. Anal. Chem. 80:9526-9533(2008) [PubMed: 19007248] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-66, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [19] | "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle." Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M. Mol. Cell 31:438-448(2008) [PubMed: 18691976] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-21 AND SER-66, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [20] | "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed: 19690332] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-21, MASS SPECTROMETRY. Tissue: Leukemic T-cell. |
| [21] | "Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed: 21269460] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| [22] | "A leucine-->proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis." Chipev C.C., Korge B.P., Markova N., Bale S.J., Digiovanna J.J., Compton J.G., Steinert P.M. Cell 70:821-828(1992) [PubMed: 1381288] [Abstract] Cited for: VARIANT BCIE PRO-161. |
| [23] | "The two size alleles of human keratin 1 are due to a deletion in the glycine-rich carboxyl-terminal V2 subdomain." Korge B.P., Compton J.G., Steinert P.M., Mischke D. J. Invest. Dermatol. 99:697-702(1992) [PubMed: 1281859] [Abstract] Cited for: VARIANT ALLELE 1B 560-GLY--TYR-566 DEL. |
| [24] | "Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis." Rothnagel J.A., Dominey A.M., Dempsey L.D., Longley M.A., Greenhalgh D.A., Gagne T.A., Huber M., Frenk E., Hohl D., Roop D.R. Science 257:1128-1130(1992) [PubMed: 1380725] [Abstract] Cited for: VARIANT BCIE GLN-490. |
| [25] | "Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity." Syder A.J., Yu Q.-C., Paller A.S., Giudice G., Pearson R., Fuchs E. J. Clin. Invest. 93:1533-1542(1994) [PubMed: 7512983] [Abstract] Cited for: VARIANT BCIE CYS-482. |
| [26] | "Mutations in the H1 and 1A domains in the keratin 1 gene in epidermolytic hyperkeratosis." Yang J.-M., Chipev C.C., Digiovanna J.J., Bale S.J., Marekov L.N., Steinert P.M., Compton J.G. J. Invest. Dermatol. 102:17-23(1994) [PubMed: 7507151] [Abstract] Cited for: VARIANTS BCIE GLY-155; SER-188 AND PRO-193. |
| [27] | "Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE)." McLean W.H.I., Eady R.A.J., Dopping-Hepenstal P.J.C., McMillan J.R., Leigh I.M., Navsaria H.A., Higgins C., Harper J.I., Paige D.G., Morley S.M. J. Invest. Dermatol. 102:24-30(1994) [PubMed: 7507152] [Abstract] Cited for: VARIANTS BCIE PRO-186 AND SER-188. |
| [28] | "A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma." Kimonis V., DiGiovanna J.J., Yang J.-M., Doyle S.Z., Bale S.J., Compton J.G. J. Invest. Dermatol. 103:764-769(1994) [PubMed: 7528239] [Abstract] Cited for: VARIANT NEPPK ILE-74. |
| [29] | "An atypical form of bullous congenital ichthyosiform erythroderma is caused by a mutation in the L12 linker region of keratin 1." Kremer H., Lavrijsen A.P., McLean W.H.I., Lane E.B., Melchers D., Ruiter D.J., Mariman E.C., Steijlen P.M. J. Invest. Dermatol. 111:1224-1226(1998) [PubMed: 9856846] [Abstract] Cited for: VARIANT BCIE VAL-340. |
| [30] | "Cyclic ichthyosis with epidermolytic hyperkeratosis: a phenotype conferred by mutations in the 2B domain of keratin K1." Sybert V.P., Francis J.S., Corden L.D., Smith L.T., Weaver M., Stephens K., McLean W.H.I. Am. J. Hum. Genet. 64:732-738(1999) [PubMed: 10053007] [Abstract] Cited for: VARIANTS AEI PHE-479 AND THR-479. |
| [31] | "An asparagine to threonine substitution in the 1A domain of keratin 1: a novel mutation that causes epidermolytic hyperkeratosis." Arin M.J., Longley M.A., Kuster W., Huber M., Hohl D., Rothnagel J.A., Roop D.R. Exp. Dermatol. 8:124-127(1999) [PubMed: 10232403] [Abstract] Cited for: VARIANT BCIE THR-188. |
| [32] | "Epidermolytic hyperkeratosis with polycyclic psoriasiform plaques resulting from a mutation in the keratin 1 gene." Michael E.J., Schneiderman P., Grossman M.E., Christiano A.M. Exp. Dermatol. 8:501-503(1999) [PubMed: 10597140] [Abstract] Cited for: VARIANT AEI PHE-479. |
| [33] | "Epidermolytic hyperkeratosis in a Hispanic family resulting from a mutation in the keratin 1 gene." Cserhalmi-Friedman P.B., Squeo R., Gordon D., Garzon M., Schneiderman P., Grossman M.E., Christiano A.M. Clin. Exp. Dermatol. 25:241-243(2000) [PubMed: 10844506] [Abstract] Cited for: VARIANT BCIE PRO-214. |
| [34] | "Identification of a novel mutation in keratin 1 in a family with epidermolytic hyperkeratosis." Arin M.J., Longley M.A., Epstein E.H. Jr., Rothnagel J.A., Roop D.R. Exp. Dermatol. 9:16-19(2000) [PubMed: 10688370] [Abstract] Cited for: VARIANT BCIE THR-479. |
| [35] | "New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens." Whittock N.V., Ashton G.H.S., Griffiths W.A.D., Eady R.A.J., McGrath J.A. Br. J. Dermatol. 145:330-335(2001) [PubMed: 11531804] [Abstract] Cited for: VARIANT BCIE ASP-155. |
| [36] | "Two cases of primarily palmoplantar keratoderma associated with novel mutations in keratin 1." Terron-Kwiatkowski A., Paller A.S., Compton J., Atherton D.J., McLean W.H., Irvine A.D. J. Invest. Dermatol. 119:966-971(2002) [PubMed: 12406346] [Abstract] Cited for: VARIANTS PALMOPLANTAR KERATODERMA VAL-176--LYS-197 DEL AND ALA-459--466-GLN DEL. |
| [37] | "Two novel mutations in the keratin 1 gene in epidermolytic hyperkeratosis." Lee D.-Y., Ahn K.-S., Lee C.-H., Rho N.-K., Lee J.-H., Lee E.-S., Steinert P.M., Yang J.-M. J. Invest. Dermatol. 119:976-977(2002) [PubMed: 12406348] [Abstract] Cited for: VARIANTS BCIE LYS-188 AND PRO-486. |
| + | Additional computationally mapped references. |
Web resources
| Human Intermediate Filament Mutation Database |
| GeneReviews |
| Wikipedia Keratin-1 entry |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | M98776 Genomic DNA. Translation: AAB47721.1. AF237621 Genomic DNA. Translation: AAF60327.1. AF304164 Genomic DNA. Translation: AAG41947.1. AK313986 mRNA. Translation: BAG36698.1. AC055716 Genomic DNA. No translation available. BC063697 mRNA. Translation: AAH63697.1. M10938 mRNA. Translation: AAA36153.1. |
| IPI | IPI00220327. |
| PIR | KRHU2. A22940. |
| RefSeq | NP_006112.3. NM_006121.3. |
| UniGene | Hs.80828. |
3D structure databases | |
| ProteinModelPortal | P04264. |
| SMR | P04264. Positions 178-215, 223-329, 346-491. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | P04264. 16 interactions. |
| MINT | MINT-4990403. |
| STRING | P04264. |
PTM databases | |
| PhosphoSite | P04264. |
Polymorphism databases | |
| DMDM | 238054406. |
2D gel databases | |
| SWISS-2DPAGE | P04264. |
| Aarhus/Ghent-2DPAGE | 4606. NEPHGE. |
| REPRODUCTION-2DPAGE | P04264. |
Proteomic databases | |
| PRIDE | P04264. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000252244; ENSP00000252244; ENSG00000167768. |
| GeneID | 3848. |
| KEGG | hsa:3848. |
Organism-specific databases | |
| CTD | 3848. |
| GeneCards | GC12M053069. |
| H-InvDB | HIX0036813. |
| HGNC | HGNC:6412. KRT1. |
| HPA | CAB002153. HPA017917. |
| MIM | 113800. phenotype. 139350. gene. 146590. phenotype. 600962. phenotype. 607602. phenotype. 607654. phenotype. |
| neXtProt | NX_P04264. |
| Orphanet | 312. Congenital bullous ichthyosiform erythroderma. 79503. Ichthyosis hystrix, Curth-Macklin type. 50942. Keratosis palmoplantaris striata. 313. Lamellar ichthyosis. 2199. Localized epidermolytic palmoplantar hyperkeratosis. 496. Thost-Unna palmoplantar keratoderma. |
| PharmGKB | PA30199. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG11445. |
| GeneTree | ENSGT00550000074491. |
| HOGENOM | HBG715391. |
| HOVERGEN | HBG013015. |
| InParanoid | P04264. |
| OMA | INYQRRT. |
| OrthoDB | EOG48GW3H. |
| PhylomeDB | P04264. |
Gene expression databases | |
| ArrayExpress | P04264. |
| Bgee | P04264. |
| CleanEx | HS_KRT1. |
| Genevestigator | P04264. |
| GermOnline | ENSG00000167768. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR016044. F. IPR001664. IF. IPR018039. Intermediate_filament_CS. IPR003054. Keratin_II. IPR009053. Prefoldin. [Graphical view] |
| KO | K07605. |
| PANTHER | PTHR23239. IF. 1 hit. PTHR23239:SF18. Keratin_II. 1 hit. |
| Pfam | PF00038. Filament. 1 hit. [Graphical view] |
| PRINTS | PR01276. TYPE2KERATIN. |
| SUPFAM | SSF46579. Prefoldin. 1 hit. |
| PROSITE | PS00226. IF. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| NextBio | 15141. |
| SOURCE | Search... |
Entry information
| Entry name | K2C1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P04264 Secondary accession number(s): B2RA01 Q9H298 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 12 Human chromosome 12: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with