Human Gene KRT3 (ENST00000417996.2_7) from GENCODE V47lift37
  Description: keratin 3 (from RefSeq NM_057088.3)
Gencode Transcript: ENST00000417996.2_7
Gencode Gene: ENSG00000186442.7_8
Transcript (Including UTRs)
   Position: hg19 chr12:53,183,469-53,189,901 Size: 6,433 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg19 chr12:53,183,826-53,189,826 Size: 6,001 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:53,183,469-53,189,901)mRNA (may differ from genome)Protein (628 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: K2C3_HUMAN
DESCRIPTION: RecName: Full=Keratin, type II cytoskeletal 3; AltName: Full=65 kDa cytokeratin; AltName: Full=Cytokeratin-3; Short=CK-3; AltName: Full=Keratin-3; Short=K3; AltName: Full=Type-II keratin Kb3;
SUBUNIT: Heterotetramer of two type I and two type II keratins. Keratin-3 associates with keratin-12.
TISSUE SPECIFICITY: Cornea specific.
DISEASE: Defects in KRT3 are a cause of Meesmann corneal dystrophy (MECD) [MIM:122100]; also abbreviated as MCD and known as juvenile epithelial corneal dystrophy of Meesmann. MECD is an autosomal dominant disease that causes fragility of the anterior corneal epithelium. Patients are usually asymptomatic until adulthood when rupture of the corneal microcysts may cause erosions, producing clinical symptoms such as photophobia, contact lens intolerance and intermittent diminution of visual acuity. Rarely, subepithelial scarring causes irregular corneal astigmatism and permanent visual impairment. Histological examination shows a disorganized and thickened epithelium with widespread cytoplasmic vacuolation and numerous small, round, debris-laden intraepithelial cysts.
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=CAF31522.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
WEB RESOURCE: Name=Human Intermediate Filament Mutation Database; URL="http://www.interfil.org";
WEB RESOURCE: Name=Wikipedia; Note=Keratin-3 entry; URL="http://en.wikipedia.org/wiki/Keratin_3";

-  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: KRT3
Diseases sorted by gene-association score: meesmann corneal dystrophy* (1194), corneal dystrophy (24), corneal disease (20), limbal stem cell deficiency (19), iridocorneal endothelial syndrome (18), hymenolepiasis (16), glanders (15), corneal dystrophy, thiel-behnke type (9), corneal granular dystrophy (9), keratoconus (9), epithelial and subepithelial dystrophy (8), hepatic infarction (8), chandler syndrome (7), keratitis (6), tyrosinemia, type ii (6), hypersensitivity syndrome, carbamazepine-induced (5), astigmatism (5)
* = Manually curated disease association

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 1.62 RPKM in Esophagus - Mucosa
Total median expression: 2.79 RPKM



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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -2.4075-0.032 Picture PostScript Text
3' UTR -104.50357-0.293 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
69754 - Ribosome binding protein Y (YfiA homologue)
64593 - Intermediate filament protein, coiled coil region
90257 - Myosin rod fragments
57997 - Tropomyosin
58100 - Bacterial hemolysins

ModBase Predicted Comparative 3D Structure on P12035
FrontTopSide
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

Biological Process:
GO:0030855 epithelial cell differentiation
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
  AJ628418 - Homo sapiens mRNA for keratin 3 (KRT3 gene).
JD189575 - Sequence 170599 from Patent EP1572962.
JD162269 - Sequence 143293 from Patent EP1572962.
JD107832 - Sequence 88856 from Patent EP1572962.
JD125280 - Sequence 106304 from Patent EP1572962.
JD282817 - Sequence 263841 from Patent EP1572962.
JD464311 - Sequence 445335 from Patent EP1572962.
JD331470 - Sequence 312494 from Patent EP1572962.
BC172453 - Synthetic construct Homo sapiens clone IMAGE:100069147, MGC:199158 keratin 3 (KRT3) mRNA, encodes complete protein.
AK314987 - Homo sapiens cDNA, FLJ95909.
BC156125 - Synthetic construct Homo sapiens clone IMAGE:100062400, MGC:190505 keratin 3 (KRT3) mRNA, encodes complete protein.

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

Protein P12035 (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: A6NIS2, ENST00000417996.1, K2C3_HUMAN, NM_057088, P12035, Q701L8, uc319npy.1, uc319npy.2
UCSC ID: ENST00000417996.2_7
RefSeq Accession: NM_057088.3
Protein: P12035 (aka K2C3_HUMAN)

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