Human Gene KRT10 (ENST00000269576.6_8) from GENCODE V47lift37
  Description: keratin 10, transcript variant 1 (from RefSeq NM_000421.5)
Gencode Transcript: ENST00000269576.6_8
Gencode Gene: ENSG00000186395.9_12
Transcript (Including UTRs)
   Position: hg19 chr17:38,974,369-38,978,866 Size: 4,498 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg19 chr17:38,974,728-38,978,837 Size: 4,110 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:38,974,369-38,978,866)mRNA (may differ from genome)Protein (584 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: K1C10_HUMAN
DESCRIPTION: RecName: Full=Keratin, type I cytoskeletal 10; AltName: Full=Cytokeratin-10; Short=CK-10; AltName: Full=Keratin-10; Short=K10;
SUBUNIT: Heterotetramer of two type I and two type II keratins. keratin-10 is generally associated with keratin-1.
TISSUE SPECIFICITY: Seen in all suprabasal cell layers including stratum corneum.
POLYMORPHISM: A number of alleles are known that mainly differ in the Gly-rich region (positions 490-560).
DISEASE: Defects in KRT10 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 KRT10 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 KRT10 are the cause of reticular congenital ichthyosiform erythroderma (CRIE) [MIM:609165]; also called ichthyosis with confetti (IWC) or reticular erythrokeratoderma. CRIE is a rare skin condition characterized by slowly enlarging islands of normal skin surrounded by erythematous ichthyotic patches in a reticulated pattern. The condition starts in infancy as a lamellar ichthyosis, with small islands of normal skin resembling confetti appearing in late childhood and at puberty. Histopathologic findings include band-like parakeratosis, psoriasiform acanthosis, and vacuolization of keratinocytes with binucleated cells in the upper epidermis, sometimes associated with amyloid deposition in the dermis. Ultrastructural abnormalities include perinuclear shells formed from a network of fine filaments in the upper epidermis.
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.
SEQUENCE CAUTION: Sequence=AAA59468.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
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/KRT10";
WEB RESOURCE: Name=Wikipedia; Note=Keratin-10 entry; URL="http://en.wikipedia.org/wiki/Keratin_10";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: KRT10
Diseases sorted by gene-association score: epidermolytic hyperkeratosis* (1635), ichthyosis, cyclic, with epidermolytic hyperkeratosis* (1571), ichthyosis with confetti* (1268), krt10-related epidermolytic hyperkeratosis* (100), cholesteatoma (21), ichthyosis bullosa of siemens (18), steatocystoma multiplex (18), pinguecula (18), epidermolytic acanthoma (17), keratoacanthoma (16), ichthyosis (16), african histoplasmosis (16), mucinous tubular and spindle renal cell carcinoma (15), epidermolysis bullosa simplex (14), inflammatory linear verrucous epidermal nevus (13), pericardial mesothelioma (12), bowen's disease (12), congenital ichthyosiform erythroderma (12), keratosis (11), verrucous carcinoma (11), epidermolysis bullosa simplex, dowling-meara type (11), large cell acanthoma (11), gastric squamous cell carcinoma (11), breast squamous cell carcinoma (10), lichen planus (10), skin disease (10), acanthoma (9), squamous cell carcinoma of the oral tongue (9), infundibulocystic basal cell carcinoma (9), nodular hidradenoma (9), hidradenitis suppurativa (8), papilloma (8), keratosis, seborrheic, somatic (8), hidradenitis (8), malignant biphasic mesothelioma (7), striate palmoplantar keratoderma (7), punctate palmoplantar keratoderma (7), ileum cancer (7), palmoplantar keratosis (7), epidermodysplasia verruciformis (7), intraneural perineurioma (7), meleda disease (6), pachyonychia congenita 1 (6), discoid lupus erythematosus (6), filamentary keratitis (6), white sponge nevus 1 (5), vulvar intraepithelial neoplasia (5), ichthyosis, x-linked (5), primary cutaneous amyloidosis (5), breast metaplastic carcinoma (4), colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas (4), popliteal pterygium syndrome 1 (4), psoriasis (4), basal cell carcinoma (3), autosomal recessive congenital ichthyosis (1)
* = Manually curated disease association

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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 11570.20 RPKM in Skin - Sun Exposed (Lower leg)
Total median expression: 21823.49 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 -2.3029-0.079 Picture PostScript Text
3' UTR -83.60359-0.233 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

SCOP Domains:
46579 - Prefoldin
46785 - "Winged helix" DNA-binding domain
64593 - Intermediate filament protein, coiled coil region
90257 - Myosin rod fragments

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3ASW - X-ray 4F1Z - X-ray


ModBase Predicted Comparative 3D Structure on P13645
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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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005198 structural molecule activity
GO:0030280 structural constituent of epidermis
GO:0046982 protein heterodimerization activity

Biological Process:
GO:0018149 peptide cross-linking
GO:0030216 keratinocyte differentiation
GO:0031424 keratinization
GO:0045684 positive regulation of epidermis development
GO:0051290 protein heterotetramerization
GO:0070268 cornification

Cellular Component:
GO:0001533 cornified envelope
GO:0005615 extracellular space
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005882 intermediate filament
GO:0016020 membrane
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  M77663 - Human keratin 10 mRNA, 3' end.
BC034697 - Homo sapiens keratin 10, mRNA (cDNA clone MGC:21369 IMAGE:4751594), complete cds.
J04029 - Homo sapiens keratin 10 type I intermediate filament (KRT10) mRNA, complete cds.
M19156 - Human acidic keratin-10 mRNA, complete cds.
JD430024 - Sequence 411048 from Patent EP1572962.
JD551346 - Sequence 532370 from Patent EP1572962.
JD530781 - Sequence 511805 from Patent EP1572962.
AB590331 - Synthetic construct DNA, clone: pFN21AB6122, Homo sapiens KRT10 gene for keratin 10, without stop codon, in Flexi system.
DQ893356 - Synthetic construct clone IMAGE:100005986; FLH196549.01X; RZPDo839E09156D keratin 10 (epidermolytic hyperkeratosis; keratosis palmaris et plantaris) (KRT10) gene, encodes complete protein.
DQ896675 - Synthetic construct Homo sapiens clone IMAGE:100011135; FLH196545.01L; RZPDo839E09155D keratin 10 (epidermolytic hyperkeratosis; keratosis palmaris et plantaris) (KRT10) gene, encodes complete protein.
LF383445 - JP 2014500723-A/190948: Polycomb-Associated Non-Coding RNAs.
LF209330 - JP 2014500723-A/16833: Polycomb-Associated Non-Coding RNAs.
JD158595 - Sequence 139619 from Patent EP1572962.
MA619022 - JP 2018138019-A/190948: Polycomb-Associated Non-Coding RNAs.
MA444907 - JP 2018138019-A/16833: Polycomb-Associated Non-Coding RNAs.

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

Protein P13645 (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: ENST00000269576.1, ENST00000269576.2, ENST00000269576.3, ENST00000269576.4, ENST00000269576.5, K1C10_HUMAN, KPP, NM_000421, P13645, Q14664, Q8N175, uc317isa.1, uc317isa.2
UCSC ID: ENST00000269576.6_8
RefSeq Accession: NM_000421.5
Protein: P13645 (aka K1C10_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

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