Human Gene KRT6C (ENST00000252250.7_7) from GENCODE V47lift37
  Description: keratin 6C (from RefSeq NM_173086.5)
Gencode Transcript: ENST00000252250.7_7
Gencode Gene: ENSG00000170465.10_9
Transcript (Including UTRs)
   Position: hg19 chr12:52,862,300-52,867,589 Size: 5,290 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg19 chr12:52,862,846-52,867,521 Size: 4,676 Coding Exon Count: 9 

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

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:52,862,300-52,867,589)mRNA (may differ from genome)Protein (564 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: K2C6C_HUMAN
DESCRIPTION: RecName: Full=Keratin, type II cytoskeletal 6C; AltName: Full=Cytokeratin-6C; Short=CK-6C; AltName: Full=Cytokeratin-6E; Short=CK-6E; AltName: Full=Keratin K6h; AltName: Full=Keratin-6C; Short=K6C; AltName: Full=Type-II keratin Kb12;
SUBUNIT: Heterodimer of a type I and a type II keratin. KRT6 isomers associate with KRT16 and/or KRT17.
TISSUE SPECIFICITY: Constitutively expressed in distinct types of epithelia such as those in oral mucosa, esophagus, papillae of tongue and hair follicle outer root sheath.
MISCELLANEOUS: There are at least six isoforms of human type II keratin-6 (K6).
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.

-  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: KRT6C
Diseases sorted by gene-association score: palmoplantar keratoderma, nonepidermolytic, focal or diffuse* (1650), palmoplantar keratoderma, nonepidermolytic, focal* (283)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  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: 263.04 RPKM in Esophagus - Mucosa
Total median expression: 332.85 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 -5.9068-0.087 Picture PostScript Text
3' UTR -123.70546-0.227 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
IPR003054 - Keratin_II

Pfam Domains:
PF00038 - Intermediate filament protein
PF16208 - Keratin type II head

SCOP Domains:
46579 - Prefoldin
103657 - BAR/IMD domain-like
158414 - HP0062-like
64593 - Intermediate filament protein, coiled coil region
90257 - Myosin rod fragments
57997 - Tropomyosin
58100 - Bacterial hemolysins

ModBase Predicted Comparative 3D Structure on P48668
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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 Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005198 structural molecule activity
GO:0005515 protein binding

Biological Process:
GO:0031424 keratinization
GO:0045104 intermediate filament cytoskeleton organization
GO:0070268 cornification

Cellular Component:
GO:0005829 cytosol
GO:0005882 intermediate filament
GO:0045095 keratin filament
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  BC110639 - Homo sapiens keratin 6C, mRNA (cDNA clone MGC:102925 IMAGE:4754834), complete cds.
L42611 - Homo sapiens keratin 6 isoform K6e (KRT6E) mRNA, complete cds.
JD111161 - Sequence 92185 from Patent EP1572962.
AK299478 - Homo sapiens cDNA FLJ54379 complete cds, highly similar to Keratin, type II cytoskeletal 6E.
JD511273 - Sequence 492297 from Patent EP1572962.
JD494426 - Sequence 475450 from Patent EP1572962.
JD526872 - Sequence 507896 from Patent EP1572962.
JD290393 - Sequence 271417 from Patent EP1572962.
BC130585 - Homo sapiens keratin 6C, mRNA (cDNA clone MGC:163457 IMAGE:40146616), complete cds.
BC130583 - Homo sapiens keratin 6C, mRNA (cDNA clone MGC:163455 IMAGE:40146614), complete cds.
JD131831 - Sequence 112855 from Patent EP1572962.
JD375255 - Sequence 356279 from Patent EP1572962.
AK313239 - Homo sapiens cDNA, FLJ93744, highly similar to Homo sapiens keratin 6E (KRT6E), mRNA.
KJ900597 - Synthetic construct Homo sapiens clone ccsbBroadEn_09991 KRT6C gene, encodes complete protein.
JD024952 - Sequence 5976 from Patent EP1572962.
CU679121 - Synthetic construct Homo sapiens gateway clone IMAGE:100020337 5' read KRT6A mRNA.
JD036276 - Sequence 17300 from Patent EP1572962.
JD019472 - Sequence 496 from Patent EP1572962.
JD029130 - Sequence 10154 from Patent EP1572962.
JD021879 - Sequence 2903 from Patent EP1572962.
JD030557 - Sequence 11581 from Patent EP1572962.
JD336197 - Sequence 317221 from Patent EP1572962.
JD317488 - Sequence 298512 from Patent EP1572962.

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

Protein P48668 (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: A1L4L5, ENST00000252250.1, ENST00000252250.2, ENST00000252250.3, ENST00000252250.4, ENST00000252250.5, ENST00000252250.6, K2C6C_HUMAN, KRT6E, NM_173086, P48666, P48668, Q2TAZ9, Q7RTN9, uc317fgo.1, uc317fgo.2
UCSC ID: ENST00000252250.7_7
RefSeq Accession: NM_173086.5
Protein: P48668 (aka K2C6C_HUMAN or K2CC_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene KRT6C:
pc (Pachyonychia Congenita)

-  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.