Human Gene KRT8 (ENST00000552150.5) from GENCODE V44
Description: Homo sapiens keratin 8 (KRT8), transcript variant 1, mRNA. (from RefSeq NM_001256282) RefSeq Summary (NM_001256282): This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. The product of this gene typically dimerizes with keratin 18 to form an intermediate filament in simple single-layered epithelial cells. This protein plays a role in maintaining cellular structural integrity and also functions in signal transduction and cellular differentiation. Mutations in this gene cause cryptogenic cirrhosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]. Gencode Transcript: ENST00000552150.5 Gencode Gene: ENSG00000170421.13 Transcript (Including UTRs) Position: hg38 chr12:52,897,297-52,926,469 Size: 29,173 Total Exon Count: 9 Strand: - Coding Region Position: hg38 chr12:52,897,428-52,926,449 Size: 29,022 Coding Exon Count: 9
ID:K2C8_HUMAN DESCRIPTION: RecName: Full=Keratin, type II cytoskeletal 8; AltName: Full=Cytokeratin-8; Short=CK-8; AltName: Full=Keratin-8; Short=K8; AltName: Full=Type-II keratin Kb8; FUNCTION: Together with KRT19, helps to link the contractile apparatus to dystrophin at the costameres of striated muscle. SUBUNIT: Heterotetramer of two type I and two type II keratins. KRT8 associates with KRT18. Associates with KRT20. Interacts with HCV core protein and PNN. When associated with KRT19, interacts with DMD. Interacts with TCHP. Interacts with APEX1. INTERACTION: P62993:GRB2; NbExp=3; IntAct=EBI-297852, EBI-401755; Q9Y6K9:IKBKG; NbExp=2; IntAct=EBI-297852, EBI-81279; P05783:KRT18; NbExp=8; IntAct=EBI-297852, EBI-297888; SUBCELLULAR LOCATION: Cytoplasm. Nucleus, nucleoplasm (By similarity). Nucleus matrix (By similarity). TISSUE SPECIFICITY: Observed in muscle fibers accumulating in the costameres of myoplasm at the sarcolemma membrane in structures that contain dystrophin and spectrin. Expressed in gingival mucosa and hard palate of the oral cavity. PTM: Phosphorylation on serine residues is enhanced during EGF stimulation and mitosis. Ser-74 phosphorylation plays an important role in keratin filament reorganization. PTM: O-glycosylated. O-GlcNAcylation at multiple sites increases solubility, and decreases stability by inducing proteasomal degradation. DISEASE: Defects in KRT8 are a cause of cirrhosis (CIRRH) [MIM:215600]. 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. WEB RESOURCE: Name=Human Intermediate Filament Mutation Database; URL="http://www.interfil.org";
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 P05787
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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.
US Server
