LOCUS P35527 623 aa linear PRI 19-SEP-2006 DEFINITION Keratin, type I cytoskeletal 9 (Cytokeratin-9) (CK-9) (Keratin-9) (K9). ACCESSION P35527 VERSION P35527 GI:81175178 DBSOURCE swissprot: locus K1C9_HUMAN, accession P35527; class: standard. extra accessions:O00109,Q14665 created: Jun 1, 1994. sequence updated: Nov 8, 2005. annotation updated: Sep 19, 2006. xrefs: Z29074.1, CAA82315.1, S69510.1, AAC60619.1, X75015.1, CAA52924.1, AB001594.1, BAA19418.1, I37984 xrefs (non-sequence databases): HSSP:P08670, IntAct:P35527, Ensembl:ENSG00000171403, KEGG:hsa:3857, HGNC:6447, MIM:144200, MIM:607606, ArrayExpress:P35527, GO:0005200, GO:0008544, InterPro:IPR011000, InterPro:IPR001664, InterPro:IPR002957, Pfam:PF00038, PRINTS:PR01248, PROSITE:PS00226 KEYWORDS Coiled coil; Direct protein sequencing; Disease mutation; Intermediate filament; Keratin. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (residues 1 to 623) AUTHORS Langbein,L., Heid,H.W., Moll,I. and Franke,W.W. TITLE Molecular characterization of the body site-specific human epidermal cytokeratin 9: cDNA cloning, amino acid sequence, and tissue specificity of gene expression JOURNAL Differentiation 55 (1), 57-71 (1993) PUBMED 7507869 REMARK NUCLEOTIDE SEQUENCE [MRNA], AND PARTIAL PROTEIN SEQUENCE. TISSUE=Foot sole tissue Erratum:[Differentiation. 1994 Jan;55(2):164. PMID: 7511549] REFERENCE 2 (residues 1 to 623) AUTHORS Reis,A., Hennies,H.-C., Langbein,L., Digweed,M., Mischke,D., Dreschler,M., Schroek,E., Royer-Pokora,B., Franke,W.W., Sperling,K. and Kuester,W. TITLE Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK) JOURNAL Nat. Genet. 6 (2), 174-179 (1994) PUBMED 7512862 REMARK NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS EPPK LYS-161; GLN-163 AND TRP-163. REFERENCE 3 (residues 1 to 623) AUTHORS Bienvenut,W.V. JOURNAL Unpublished REMARK PROTEIN SEQUENCE OF 14-29, AND MASS SPECTROMETRY. TISSUE=Cervix carcinoma REFERENCE 4 (residues 1 to 623) AUTHORS Kobayashi,S., Tanaka,T., Matsuyoshi,N. and Imamura,S. TITLE Keratin 9 point mutation in the pedigree of epidermolytic hereditary palmoplantar keratoderma perturbs keratin intermediate filament network formation JOURNAL FEBS Lett. 386 (2-3), 149-155 (1996) PUBMED 8647270 REMARK NUCLEOTIDE SEQUENCE [MRNA] OF 147-372, AND VARIANT EPPK GLN-163. REFERENCE 5 (residues 1 to 623) AUTHORS Rosen,E.M., Meromsky,L., Romero,R., Setter,E. and Goldberg,I. TITLE Human placenta contains an epithelial scatter protein JOURNAL Biochem. Biophys. Res. Commun. 168 (3), 1082-1088 (1990) PUBMED 2140676 REMARK PROTEIN SEQUENCE OF 450-466. REFERENCE 6 (residues 1 to 623) AUTHORS Hennies,H.C., Zehender,D., Kunze,J., Kuster,W. and Reis,A. TITLE Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma JOURNAL Hum. Genet. 93 (6), 649-654 (1994) PUBMED 7516304 REMARK VARIANTS EPPK VAL-157 AND PRO-172. REFERENCE 7 (residues 1 to 623) AUTHORS Bonifas,J.M., Matsumura,K., Chen,M.A., Berth-Jones,J., Hutchison,P.E., Zloczower,M., Fritsch,P.O. and Epstein,E.H. Jr. TITLE Mutations of keratin 9 in two families with palmoplantar epidermolytic hyperkeratosis JOURNAL J. Invest. Dermatol. 103 (4), 474-477 (1994) PUBMED 7523529 REMARK VARIANT EPPK SER-161. REFERENCE 8 (residues 1 to 623) AUTHORS Torchard,D., Blanchet-Bardon,C., Serova,O., Langbein,L., Narod,S., Janin,N., Goguel,A.F., Bernheim,A., Franke,W.W., Lenoir,G.M. and Feunteun,J. TITLE Epidermolytic palmoplantar keratoderma cosegregates with a keratin 9 mutation in a pedigree with breast and ovarian cancer JOURNAL Nat. Genet. 6 (1), 106-110 (1994) PUBMED 7511021 REMARK VARIANT EPPK TYR-161. REFERENCE 9 (residues 1 to 623) AUTHORS Rothnagel,J.A., Wojcik,S., Liefer,K.M., Dominey,A.M., Huber,M., Hohl,D. and Roop,D.R. TITLE Mutations in the 1A domain of keratin 9 in patients with epidermolytic palmoplantar keratoderma JOURNAL J. Invest. Dermatol. 104 (3), 430-433 (1995) PUBMED 7532199 REMARK VARIANTS EPPK TRP-163 AND SER-168. REFERENCE 10 (residues 1 to 623) AUTHORS Endo,H., Hatamochi,A. and Shinkai,H. TITLE A novel mutation of a leucine residue in coil 1A of keratin 9 in epidermolytic palmoplantar keratoderma JOURNAL J. Invest. Dermatol. 109 (1), 113-115 (1997) PUBMED 9204965 REMARK VARIANT EPPK VAL-160. REFERENCE 11 (residues 1 to 623) AUTHORS Covello,S.P., Irvine,A.D., McKenna,K.E., Munro,C.S., Nevin,N.C., Smith,F.J., Uitto,J. and McLean,W.H. TITLE Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland JOURNAL J. Invest. Dermatol. 111 (6), 1207-1209 (1998) PUBMED 9856842 REMARK VARIANTS EPPK THR-157; VAL-157 AND GLN-163. COMMENT On Nov 8, 2005 this sequence version replaced gi:547748. [FUNCTION] May serve an important special function either in the mature palmar and plantar skin tissue or in the morphogenic program of the formation of these tissues. [SUBUNIT] Heterotetramer of two type I and two type II keratins. [TISSUE SPECIFICITY] Expressed in the terminally differentiated epidermis of palms and soles. [DISEASE] Defects in KRT9 are a cause of epidermolytic palmoplantar keratoderma (EPPK) [MIM:144200]; also abbreviated EHPPK. EPPK is an autosomal dominant disease characterized by diffuse thickening of the epidermis on the entire surface of palms and soles sharply bordered with erythematous margins. [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 (Ref.4) 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.genetests.org/query?gene=KRT9'. FEATURES Location/Qualifiers source 1..623 /organism="Homo sapiens" /db_xref="taxon:9606" gene 1..623 /gene="KRT9" Protein 1..623 /gene="KRT9" /product="Keratin, type I cytoskeletal 9" Region 1..623 /gene="KRT9" /region_name="Mature chain" /experiment="experimental evidence, no additional details recorded" /note="Keratin, type I cytoskeletal 9. /FTId=PRO_0000063640." Region 1..152 /gene="KRT9" /region_name="Region of interest in the sequence" /experiment="experimental evidence, no additional details recorded" /note="Head." Region 12..13 /gene="KRT9" /region_name="Conflict" /experiment="experimental evidence, no additional details recorded" /note="SR -> T (in Ref. 1; AAC60619 and 2)." Region 15..26 /gene="KRT9" /region_name="Compositionally biased region" /experiment="experimental evidence, no additional details recorded" /note="Poly-Gly." Region 152..463 /gene="KRT9" /region_name="Filament" /note="Intermediate filament protein; pfam00038" /db_xref="CDD:40140" Region 153..461 /gene="KRT9" /region_name="Region of interest in the sequence" /experiment="experimental evidence, no additional details recorded" /note="Rod." Region 153..188 /gene="KRT9" /region_name="Region of interest in the sequence" /experiment="experimental evidence, no additional details recorded" /note="Coil 1A." Region 157 /gene="KRT9" /region_name="Variant" /experiment="experimental evidence, no additional details recorded" /note="M -> T (in EPPK). /FTId=VAR_010499." Region 157 /gene="KRT9" /region_name="Variant" /experiment="experimental evidence, no additional details recorded" /note="M -> V (in EPPK). /FTId=VAR_010500." Region 160 /gene="KRT9" /region_name="Variant" /experiment="experimental evidence, no additional details recorded" /note="L -> V (in EPPK). /FTId=VAR_010501." Region 161 /gene="KRT9" /region_name="Variant" /experiment="experimental evidence, no additional details recorded" /note="N -> K (in EPPK). /FTId=VAR_003822." Region 161 /gene="KRT9" /region_name="Variant" /experiment="experimental evidence, no additional details recorded" /note="N -> S (in EPPK). /FTId=VAR_010502." Region 161 /gene="KRT9" /region_name="Variant" /experiment="experimental evidence, no additional details recorded" /note="N -> Y (in EPPK). /FTId=VAR_010503." Region 163 /gene="KRT9" /region_name="Variant" /experiment="experimental evidence, no additional details recorded" /note="R -> Q (in EPPK). /FTId=VAR_003823." Region 163 /gene="KRT9" /region_name="Variant" /experiment="experimental evidence, no additional details recorded" /note="R -> W (in EPPK). /FTId=VAR_003824." Region 168 /gene="KRT9" /region_name="Variant" /experiment="experimental evidence, no additional details recorded" /note="L -> S (in EPPK). /FTId=VAR_003825." Region 172 /gene="KRT9" /region_name="Variant" /experiment="experimental evidence, no additional details recorded" /note="Q -> P (in EPPK). /FTId=VAR_010504." Region 189..207 /gene="KRT9" /region_name="Region of interest in the sequence" /experiment="experimental evidence, no additional details recorded" /note="Linker 1." Region 208..299 /gene="KRT9" /region_name="Region of interest in the sequence" /experiment="experimental evidence, no additional details recorded" /note="Coil 1B." Region 300..322 /gene="KRT9" /region_name="Region of interest in the sequence" /experiment="experimental evidence, no additional details recorded" /note="Linker 12." Region 323..461 /gene="KRT9" /region_name="Region of interest in the sequence" /experiment="experimental evidence, no additional details recorded" /note="Coil 2." Region 462..623 /gene="KRT9" /region_name="Region of interest in the sequence" /experiment="experimental evidence, no additional details recorded" /note="Tail." ORIGIN 1 mscrqfsssy lsrsgggggg glgsggsirs sysrfsssgg rggggrfsss sgygggssrv 61 cgrggggsfg ysygggsggg fsasslgggf gggsrgfgga sgggysssgg fgggfgggsg 121 ggfgggygsg fgglggfggg agggdggilt anekstmqel nsrlasyldk vqaleeannd 181 lenkiqdwyd kkgpaaiqkn yspyyntidd lkdqivdltv gnnktlldid ntrmtlddfr 241 ikfemeqnlr qgvdadingl rqvldnltme ksdlemqyet lqeelmalkk nhkeemsqlt 301 gqnsgdvnve invapgkdlt ktlndmrqey eqliaknrkd ienqyetqit qiehevsssg 361 qevqssakev tqlrhgvqel eielqsqlsk kaaleksled tknrycgqlq miqeqisnle 421 aqitdvrqei ecqnqeysll lsikmrleke ietyhnlleg gqedfessga gkiglggrgg 481 sggsygrgsr ggsggsyggg gsgggygggs gsrggsggsy gggsgsgggs gggygggsgg 541 ghsggsgggh sggsggnygg gsgsgggsgg gygggsgsrg gsggshgggs gfggesggsy 601 gggeeasgsg ggygggsgks shs //