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 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesGeneReviewsMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:41,609,778-41,612,767)mRNA (may differ from genome)Protein (473 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
HPRDLynxMGIneXtProtOMIMPubMed
ReactomeStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  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";

-  MalaCards Disease Associations
  MalaCards Gene Search: KRT16
Diseases sorted by gene-association score: pachyonychia congenita 1* (1601), palmoplantar keratoderma, nonepidermolytic, focal* (1200), nonepidermolytic palmoplantar hyperkeratosis* (100), krt16-related pachyonychia congenita* (100), fissured tongue (16), bowen's disease (14), contact dermatitis (14), cholesteatoma (13), psoriasis (12), pachyonychia congenita 2 (11), palmoplantar keratoderma, epidermolytic (11), median rhomboid glossitis (11), monilethrix (11), hypertrophic scars (11), tinea corporis (10), steatocystoma multiplex (10), palmoplantar keratoderma, nonepidermolytic (10), pinguecula (10), palmoplantar keratoderma, bothnian type (9), palmoplantar keratosis (9), epidermolytic hyperkeratosis (9), discoid lupus erythematosus (8), irritant dermatitis (8), lichen planus (7), child syndrome (7), glossitis (7), keratoacanthoma (6), squamous cell carcinoma of the oral tongue (6), primary cutaneous amyloidosis (6), epidermodysplasia verruciformis (5), ichthyosis bullosa of siemens (5), white sponge nevus 1 (5), skin disease (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 247.74 RPKM in Esophagus - Mucosa
Total median expression: 518.12 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -9.5079-0.120 Picture PostScript Text
3' UTR -54.60157-0.348 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR016044 - F
IPR001664 - IF
IPR018039 - Intermediate_filament_CS
IPR002957 - Keratin_I

Pfam Domains:
PF00038 - Intermediate filament protein

ModBase Predicted Comparative 3D Structure on P08779
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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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGI     
Protein Sequence     
Alignment     

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005198 structural molecule activity
GO:0005200 structural constituent of cytoskeleton
GO:0005515 protein binding

Biological Process:
GO:0002009 morphogenesis of an epithelium
GO:0006954 inflammatory response
GO:0007010 cytoskeleton organization
GO:0007568 aging
GO:0008283 cell proliferation
GO:0008544 epidermis development
GO:0030216 keratinocyte differentiation
GO:0030336 negative regulation of cell migration
GO:0031424 keratinization
GO:0042633 hair cycle
GO:0045087 innate immune response
GO:0045104 intermediate filament cytoskeleton organization
GO:0051546 keratinocyte migration
GO:0061436 establishment of skin barrier
GO:0070268 cornification

Cellular Component:
GO:0005634 nucleus
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005882 intermediate filament
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  S72493 - keratin=keratin 16 homolog [human, tracheobronchial epithelial cells, mRNA Partial, 976 nt].
BC039169 - Homo sapiens keratin 16, mRNA (cDNA clone MGC:21296 IMAGE:4752995), complete cds.
AF061812 - Homo sapiens keratin 16 (KRT16A) mRNA, complete cds.
JD352738 - Sequence 333762 from Patent EP1572962.
JD554601 - Sequence 535625 from Patent EP1572962.
JD478057 - Sequence 459081 from Patent EP1572962.
AK290853 - Homo sapiens cDNA FLJ75925 complete cds, highly similar to Homo sapiens keratin 16 (focal non-epidermolytic palmoplantar keratoderma) (KRT16), mRNA.
JD157119 - Sequence 138143 from Patent EP1572962.
JD200427 - Sequence 181451 from Patent EP1572962.
S79867 - type I keratin 16 [human, epidermal keratinocytes, mRNA Partial, 1422 nt].
DQ891307 - Synthetic construct clone IMAGE:100003937; FLH170949.01X; RZPDo839D05100D keratin 16 (focal non-epidermolytic palmoplantar keratoderma) (KRT16) gene, encodes complete protein.
DQ896818 - Synthetic construct Homo sapiens clone IMAGE:100011278; FLH170945.01L; RZPDo839D0599D keratin 16 (focal non-epidermolytic palmoplantar keratoderma) (KRT16) gene, encodes complete protein.
AK309296 - Homo sapiens cDNA, FLJ99337.
AK309278 - Homo sapiens cDNA, FLJ99319.
JD172714 - Sequence 153738 from Patent EP1572962.
JD222820 - Sequence 203844 from Patent EP1572962.
JD274787 - Sequence 255811 from Patent EP1572962.
JD188688 - Sequence 169712 from Patent EP1572962.
JD334145 - Sequence 315169 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P08779 (Reactome details) participates in the following event(s):

R-HSA-6805546 Keratin type I binds keratin type II
R-HSA-6805573 Keratin type I/type II heterodimers form tetramers
R-HSA-6806613 Keratin tetramers bind to form unit length filaments
R-HSA-6805567 Keratinization
R-HSA-1266738 Developmental Biology

-  Other Names for This Gene
  Alternate Gene Symbols: A8K488, K1C16_HUMAN, KRT16A, NM_005557, P08779, P30654, Q16402, Q9UBG8, uc002hxg.1, uc002hxg.2, uc002hxg.3, uc002hxg.4, uc002hxg.5, uc002hxg.6
UCSC ID: uc002hxg.6
RefSeq Accession: NM_005557
Protein: P08779 (aka K1C16_HUMAN)
CCDS: CCDS11401.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene KRT16:
pc (Pachyonychia Congenita)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.