Description: Homo sapiens keratin 9 (KRT9), mRNA. RefSeq Summary (NM_000226): This gene encodes the type I keratin 9, an intermediate filament chain expressed only in the terminally differentiated epidermis of palms and soles. Mutations in this gene cause epidermolytic palmoplantar keratoderma. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Transcript (Including UTRs) Position: hg19 chr17:39,722,094-39,728,310 Size: 6,217 Total Exon Count: 8 Strand: - Coding Region Position: hg19 chr17:39,723,525-39,728,244 Size: 4,720 Coding Exon Count: 7
ID:K1C9_HUMAN DESCRIPTION: RecName: Full=Keratin, type I cytoskeletal 9; AltName: Full=Cytokeratin-9; Short=CK-9; AltName: Full=Keratin-9; Short=K9; FUNCTION: May serve an important special function either in the mature palmar and plantar skin tissue or in the morphogenetic program of the formation of these tissues. Plays a role in keratin filament assembly. SUBUNIT: Heterotetramer of two type I and two type II keratins. TISSUE SPECIFICITY: Expressed in the terminally differentiated epidermis of palms and soles. INDUCTION: Induced by intrinsic regulatory mechanisms and by extrinsic signals from a subset of dermal palmoplantar fibroblasts. DISEASE: Defects in KRT9 are a cause of palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200]; also abbreviated as EHPPK. EPPK is a dermatological disorder characterized by diffuse thickening of the epidermis on the entire surface of palms and soles sharply bordered with erythematous margins. Some patients may present with knuckle pads, thick pads of skin appearing over the proximal phalangeal joints. 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. CAUTION: Was originally (PubMed:2140676) thought to be a 60 kDa chain of placental scatter protein. 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/KRT9";
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 P35527
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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
