Human Gene KRT16 (ENST00000301653.9) Description and Page Index
Description: Homo sapiens keratin 16 (KRT16), mRNA. (from RefSeq NM_005557) RefSeq Summary (NM_005557): The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. Most of the type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains and are clustered in a region of chromosome 17q12-q21. This keratin has been coexpressed with keratin 14 in a number of epithelial tissues, including esophagus, tongue, and hair follicles. Mutations in this gene are associated with type 1 pachyonychia congenita, non-epidermolytic palmoplantar keratoderma and unilateral palmoplantar verrucous nevus. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC039169.1, ERR279844.7639.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1968189, SAMEA1968968 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000301653.9/ ENSP00000301653.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Gencode Transcript: ENST00000301653.9 Gencode Gene: ENSG00000186832.9 Transcript (Including UTRs) Position: hg38 chr17:41,609,778-41,612,767 Size: 2,990 Total Exon Count: 8 Strand: - Coding Region Position: hg38 chr17:41,609,935-41,612,688 Size: 2,754 Coding Exon Count: 8
ID:K1C16_HUMAN DESCRIPTION: RecName: Full=Keratin, type I cytoskeletal 16; AltName: Full=Cytokeratin-16; Short=CK-16; AltName: Full=Keratin-16; Short=K16; SUBUNIT: Heterodimer of a type I and a type II keratin. KRT16 associates with KRT6 isomers. Interacts with TCHP. Interacts with TRADD (By similarity). TISSUE SPECIFICITY: Expressed in the hair follicle, nail bed and in mucosal stratified squamous epithelia and, suprabasally, in oral epithelium and palmoplantar epidermis. Also found in luminal cells of sweat and mammary gland ducts. MASS SPECTROMETRY: Mass=50924.66; Method=MALDI; Range=2-473; Source=PubMed:11840567; DISEASE: Defects in KRT16 are a cause of pachyonychia congenita type 1 (PC1) [MIM:167200]; also known as Jadassohn-Lewandowsky syndrome. PC1 is an autosomal dominant ectodermal dysplasia characterized by hypertrophic nail dystrophy resulting in onchyogryposis (thickening and increase in curvature of the nail), palmoplantar keratoderma, follicular hyperkeratosis, and oral leukokeratosis. Hyperhidrosis of the hands and feet is usually present. DISEASE: Defects in KRT16 are the cause of palmoplantar keratoderma non-epidermolytic focal (FNEPPK) [MIM:613000]. A dermatological disorder characterized by non-epidermolytic palmoplantar keratoderma limited to the pressure points on the balls of the feet, with later mild involvement on the palms. Oral, genital and follicular keratotic lesions are often present. DISEASE: Defects in KRT16 are a cause of unilateral palmoplantar verrucous nevus (UPVN) [MIM:144200]. UPVN is characterized by a localized thickening of the skin in parts of the right palm and the right sole. DISEASE: Note=KRT16 and KRT17 are coexpressed only in pathological situations such as metaplasias and carcinomas of the uterine cervix and in psoriasis vulgaris. MISCELLANEOUS: There are two types of cytoskeletal and microfibrillar keratin, I (acidic) and II (neutral to basic) (40- 55 and 56-70 kDa, respectively). 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/KRT16";
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 P08779
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
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.