Human Gene KRT1 (ENST00000252244.3) from GENCODE V38
Description: Homo sapiens keratin 1 (KRT1), mRNA. (from RefSeq NM_006121) RefSeq Summary (NM_006121): 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 epithelial tissues. This type II cytokeratin is specifically expressed in the spinous and granular layers of the epidermis with family member KRT10 and mutations in these genes have been associated with bullous congenital ichthyosiform erythroderma. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]. Gencode Transcript: ENST00000252244.3 Gencode Gene: ENSG00000167768.4 Transcript (Including UTRs) Position: hg38 chr12:52,674,736-52,680,407 Size: 5,672 Total Exon Count: 9 Strand: - Coding Region Position: hg38 chr12:52,675,193-52,680,348 Size: 5,156 Coding Exon Count: 9
ID:K2C1_HUMAN DESCRIPTION: RecName: Full=Keratin, type II cytoskeletal 1; AltName: Full=67 kDa cytokeratin; AltName: Full=Cytokeratin-1; Short=CK-1; AltName: Full=Hair alpha protein; AltName: Full=Keratin-1; Short=K1; AltName: Full=Type-II keratin Kb1; 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). SUBUNIT: 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. SUBCELLULAR LOCATION: Cell membrane. Note=Located on plasma membrane of neuroblastoma NMB7 cells. TISSUE SPECIFICITY: The source of this protein is neonatal foreskin. The 67-kDa type II keratins are expressed in terminally differentiating epidermis. PTM: 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. DISEASE: Defects in KRT1 are a cause of epidermolytic hyperkeratosis (EHK) [MIM:113800]. 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. DISEASE: 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. DISEASE: 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. DISEASE: 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. DISEASE: 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. MISCELLANEOUS: There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II (neutral to basic; 56-70 kDa). SIMILARITY: Belongs to the intermediate filament family. WEB RESOURCE: Name=Human Intermediate Filament Mutation Database; URL="http://www.interfil.org"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KRT1"; WEB RESOURCE: Name=Wikipedia; Note=Keratin-1 entry; URL="http://en.wikipedia.org/wiki/Keratin_1";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF00038 - Intermediate filament protein
ModBase Predicted Comparative 3D Structure on P04264
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.