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  JOURNAL   Unpublished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
//

