| Predicate | Object |
|---|---|
| rdf:type | |
| biopax3:comment |
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"; GENE SYNONYMS:KRT9. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.,
SEQUENCE 623 AA; 62064 MW; 45C833749B63873D CRC64;
|
| biopax3:xref |
urn:biopax:RelationshipXref:HGNC_HGNC:6447,
urn:biopax:RelationshipXref:NCBI GENE_3857,
urn:biopax:RelationshipXref:REFSEQ_NP_000217,
urn:biopax:UnificationXref:UNIPROT_O00109,
urn:biopax:UnificationXref:UNIPROT_P35527,
urn:biopax:UnificationXref:UNIPROT_Q0IJ47,
urn:biopax:UnificationXref:UNIPROT_Q14665
|
| biopax3:displayName |
K1C9_HUMAN
|
| biopax3:name |
CK-9,
Cytokeratin-9,
K9,
KRT9,
Keratin-9
|
| biopax3:organism | |
| biopax3:sequence |
MSCRQFSSSYLSRSGGGGGGGLGSGGSIRSSYSRFSSSGGGGGGGRFSSSSGYGGGSSRVCGRGGGGSFGYSYGGGSGGGFSASSLGGGFGGGSRGFGGASGGGYSSSGGFGGGFGGGSGGGFGGGYGSGFGGFGGFGGGAGGGDGGILTANEKSTMQELNSRLASYLDKVQALEEANNDLENKIQDWYDKKGPAAIQKNYSPYYNTIDDLKDQIVDLTVGNNKTLLDIDNTRMTLDDFRIKFEMEQNLRQGVDADINGLRQVLDNLTMEKSDLEMQYETLQEELMALKKNHKEEMSQLTGQNSGDVNVEINVAPGKDLTKTLNDMRQEYEQLIAKNRKDIENQYETQITQIEHEVSSSGQEVQSSAKEVTQLRHGVQELEIELQSQLSKKAALEKSLEDTKNRYCGQLQMIQEQISNLEAQITDVRQEIECQNQEYSLLLSIKMRLEKEIETYHNLLEGGQEDFESSGAGKIGLGGRGGSGGSYGRGSRGGSGGSYGGGGSGGGYGGGSGSRGGSGGSYGGGSGSGGGSGGGYGGGSGGGHSGGSGGGHSGGSGGNYGGGSGSGGGSGGGYGGGSGSRGGSGGSHGGGSGFGGESGGSYGGGEEASGSGGGYGGGSGKSSHS
|
| biopax3:standardName |
Keratin, type I cytoskeletal 9
|