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JOURNAL Unpublished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
//