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1 LOCUS P35527 623 aa linear PRI 19-SEP-2006
2 DEFINITION Keratin, type I cytoskeletal 9 (Cytokeratin-9) (CK-9) (Keratin-9)
3 (K9).
4 ACCESSION P35527
5 VERSION P35527 GI:81175178
6 DBSOURCE swissprot: locus K1C9_HUMAN, accession P35527;
7 class: standard.
8 extra accessions:O00109,Q14665
9 created: Jun 1, 1994.
10 sequence updated: Nov 8, 2005.
11 annotation updated: Sep 19, 2006.
12 xrefs: Z29074.1, CAA82315.1, S69510.1, AAC60619.1, X75015.1,
13 CAA52924.1, AB001594.1, BAA19418.1, I37984
14 xrefs (non-sequence databases): HSSP:P08670, IntAct:P35527,
15 Ensembl:ENSG00000171403, KEGG:hsa:3857, HGNC:6447, MIM:144200,
16 MIM:607606, ArrayExpress:P35527, GO:0005200, GO:0008544,
17 InterPro:IPR011000, InterPro:IPR001664, InterPro:IPR002957,
18 Pfam:PF00038, PRINTS:PR01248, PROSITE:PS00226
19 KEYWORDS Coiled coil; Direct protein sequencing; Disease mutation;
20 Intermediate filament; Keratin.
21 SOURCE Homo sapiens (human)
22 ORGANISM Homo sapiens
23 Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
24 Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
25 Catarrhini; Hominidae; Homo.
26 REFERENCE 1 (residues 1 to 623)
27 AUTHORS Langbein,L., Heid,H.W., Moll,I. and Franke,W.W.
28 TITLE Molecular characterization of the body site-specific human
29 epidermal cytokeratin 9: cDNA cloning, amino acid sequence, and
30 tissue specificity of gene expression
31 JOURNAL Differentiation 55 (1), 57-71 (1993)
32 PUBMED 7507869
33 REMARK NUCLEOTIDE SEQUENCE [MRNA], AND PARTIAL PROTEIN SEQUENCE.
34 TISSUE=Foot sole tissue
35 Erratum:[Differentiation. 1994 Jan;55(2):164. PMID: 7511549]
36 REFERENCE 2 (residues 1 to 623)
37 AUTHORS Reis,A., Hennies,H.-C., Langbein,L., Digweed,M., Mischke,D.,
38 Dreschler,M., Schroek,E., Royer-Pokora,B., Franke,W.W., Sperling,K.
39 and Kuester,W.
40 TITLE Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma
41 (EPPK)
42 JOURNAL Nat. Genet. 6 (2), 174-179 (1994)
43 PUBMED 7512862
44 REMARK NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS EPPK LYS-161;
45 GLN-163 AND TRP-163.
46 REFERENCE 3 (residues 1 to 623)
47 AUTHORS Bienvenut,W.V.
48 JOURNAL Unpublished
49 REMARK PROTEIN SEQUENCE OF 14-29, AND MASS SPECTROMETRY.
50 TISSUE=Cervix carcinoma
51 REFERENCE 4 (residues 1 to 623)
52 AUTHORS Kobayashi,S., Tanaka,T., Matsuyoshi,N. and Imamura,S.
53 TITLE Keratin 9 point mutation in the pedigree of epidermolytic
54 hereditary palmoplantar keratoderma perturbs keratin intermediate
55 filament network formation
56 JOURNAL FEBS Lett. 386 (2-3), 149-155 (1996)
57 PUBMED 8647270
58 REMARK NUCLEOTIDE SEQUENCE [MRNA] OF 147-372, AND VARIANT EPPK GLN-163.
59 REFERENCE 5 (residues 1 to 623)
60 AUTHORS Rosen,E.M., Meromsky,L., Romero,R., Setter,E. and Goldberg,I.
61 TITLE Human placenta contains an epithelial scatter protein
62 JOURNAL Biochem. Biophys. Res. Commun. 168 (3), 1082-1088 (1990)
63 PUBMED 2140676
64 REMARK PROTEIN SEQUENCE OF 450-466.
65 REFERENCE 6 (residues 1 to 623)
66 AUTHORS Hennies,H.C., Zehender,D., Kunze,J., Kuster,W. and Reis,A.
67 TITLE Keratin 9 gene mutational heterogeneity in patients with
68 epidermolytic palmoplantar keratoderma
69 JOURNAL Hum. Genet. 93 (6), 649-654 (1994)
70 PUBMED 7516304
71 REMARK VARIANTS EPPK VAL-157 AND PRO-172.
72 REFERENCE 7 (residues 1 to 623)
73 AUTHORS Bonifas,J.M., Matsumura,K., Chen,M.A., Berth-Jones,J.,
74 Hutchison,P.E., Zloczower,M., Fritsch,P.O. and Epstein,E.H. Jr.
75 TITLE Mutations of keratin 9 in two families with palmoplantar
76 epidermolytic hyperkeratosis
77 JOURNAL J. Invest. Dermatol. 103 (4), 474-477 (1994)
78 PUBMED 7523529
79 REMARK VARIANT EPPK SER-161.
80 REFERENCE 8 (residues 1 to 623)
81 AUTHORS Torchard,D., Blanchet-Bardon,C., Serova,O., Langbein,L., Narod,S.,
82 Janin,N., Goguel,A.F., Bernheim,A., Franke,W.W., Lenoir,G.M. and
83 Feunteun,J.
84 TITLE Epidermolytic palmoplantar keratoderma cosegregates with a keratin
85 9 mutation in a pedigree with breast and ovarian cancer
86 JOURNAL Nat. Genet. 6 (1), 106-110 (1994)
87 PUBMED 7511021
88 REMARK VARIANT EPPK TYR-161.
89 REFERENCE 9 (residues 1 to 623)
90 AUTHORS Rothnagel,J.A., Wojcik,S., Liefer,K.M., Dominey,A.M., Huber,M.,
91 Hohl,D. and Roop,D.R.
92 TITLE Mutations in the 1A domain of keratin 9 in patients with
93 epidermolytic palmoplantar keratoderma
94 JOURNAL J. Invest. Dermatol. 104 (3), 430-433 (1995)
95 PUBMED 7532199
96 REMARK VARIANTS EPPK TRP-163 AND SER-168.
97 REFERENCE 10 (residues 1 to 623)
98 AUTHORS Endo,H., Hatamochi,A. and Shinkai,H.
99 TITLE A novel mutation of a leucine residue in coil 1A of keratin 9 in
100 epidermolytic palmoplantar keratoderma
101 JOURNAL J. Invest. Dermatol. 109 (1), 113-115 (1997)
102 PUBMED 9204965
103 REMARK VARIANT EPPK VAL-160.
104 REFERENCE 11 (residues 1 to 623)
105 AUTHORS Covello,S.P., Irvine,A.D., McKenna,K.E., Munro,C.S., Nevin,N.C.,
106 Smith,F.J., Uitto,J. and McLean,W.H.
107 TITLE Mutations in keratin K9 in kindreds with epidermolytic palmoplantar
108 keratoderma and epidemiology in Northern Ireland
109 JOURNAL J. Invest. Dermatol. 111 (6), 1207-1209 (1998)
110 PUBMED 9856842
111 REMARK VARIANTS EPPK THR-157; VAL-157 AND GLN-163.
112 COMMENT On Nov 8, 2005 this sequence version replaced gi:547748.
113 [FUNCTION] May serve an important special function either in the
114 mature palmar and plantar skin tissue or in the morphogenic program
115 of the formation of these tissues.
116 [SUBUNIT] Heterotetramer of two type I and two type II keratins.
117 [TISSUE SPECIFICITY] Expressed in the terminally differentiated
118 epidermis of palms and soles.
119 [DISEASE] Defects in KRT9 are a cause of epidermolytic palmoplantar
120 keratoderma (EPPK) [MIM:144200]; also abbreviated EHPPK. EPPK is an
121 autosomal dominant disease characterized by diffuse thickening of
122 the epidermis on the entire surface of palms and soles sharply
123 bordered with erythematous margins.
124 [MISCELLANEOUS] There are two types of cytoskeletal and
125 microfibrillar keratin, I (acidic) and II (neutral to basic) (40-55
126 and 56-70 kDa, respectively).
127 [SIMILARITY] Belongs to the intermediate filament family.
128 [CAUTION] Was originally (Ref.4) thought to be a 60 kDa chain of
129 placental scatter protein.
130 [WEB RESOURCE] NAME=Human Intermediate Filament Mutation Database;
131 URL='http://www.interfil.org'.
132 [WEB RESOURCE] NAME=GeneReviews;
133 URL='http://www.genetests.org/query?gene=KRT9'.
134 FEATURES Location/Qualifiers
135 source 1..623
136 /organism="Homo sapiens"
137 /db_xref="taxon:9606"
138 gene 1..623
139 /gene="KRT9"
140 Protein 1..623
141 /gene="KRT9"
142 /product="Keratin, type I cytoskeletal 9"
143 Region 1..623
144 /gene="KRT9"
145 /region_name="Mature chain"
146 /experiment="experimental evidence, no additional details
147 recorded"
148 /note="Keratin, type I cytoskeletal 9.
149 /FTId=PRO_0000063640."
150 Region 1..152
151 /gene="KRT9"
152 /region_name="Region of interest in the sequence"
153 /experiment="experimental evidence, no additional details
154 recorded"
155 /note="Head."
156 Region 12..13
157 /gene="KRT9"
158 /region_name="Conflict"
159 /experiment="experimental evidence, no additional details
160 recorded"
161 /note="SR -> T (in Ref. 1; AAC60619 and 2)."
162 Region 15..26
163 /gene="KRT9"
164 /region_name="Compositionally biased region"
165 /experiment="experimental evidence, no additional details
166 recorded"
167 /note="Poly-Gly."
168 Region 152..463
169 /gene="KRT9"
170 /region_name="Filament"
171 /note="Intermediate filament protein; pfam00038"
172 /db_xref="CDD:40140"
173 Region 153..461
174 /gene="KRT9"
175 /region_name="Region of interest in the sequence"
176 /experiment="experimental evidence, no additional details
177 recorded"
178 /note="Rod."
179 Region 153..188
180 /gene="KRT9"
181 /region_name="Region of interest in the sequence"
182 /experiment="experimental evidence, no additional details
183 recorded"
184 /note="Coil 1A."
185 Region 157
186 /gene="KRT9"
187 /region_name="Variant"
188 /experiment="experimental evidence, no additional details
189 recorded"
190 /note="M -> T (in EPPK). /FTId=VAR_010499."
191 Region 157
192 /gene="KRT9"
193 /region_name="Variant"
194 /experiment="experimental evidence, no additional details
195 recorded"
196 /note="M -> V (in EPPK). /FTId=VAR_010500."
197 Region 160
198 /gene="KRT9"
199 /region_name="Variant"
200 /experiment="experimental evidence, no additional details
201 recorded"
202 /note="L -> V (in EPPK). /FTId=VAR_010501."
203 Region 161
204 /gene="KRT9"
205 /region_name="Variant"
206 /experiment="experimental evidence, no additional details
207 recorded"
208 /note="N -> K (in EPPK). /FTId=VAR_003822."
209 Region 161
210 /gene="KRT9"
211 /region_name="Variant"
212 /experiment="experimental evidence, no additional details
213 recorded"
214 /note="N -> S (in EPPK). /FTId=VAR_010502."
215 Region 161
216 /gene="KRT9"
217 /region_name="Variant"
218 /experiment="experimental evidence, no additional details
219 recorded"
220 /note="N -> Y (in EPPK). /FTId=VAR_010503."
221 Region 163
222 /gene="KRT9"
223 /region_name="Variant"
224 /experiment="experimental evidence, no additional details
225 recorded"
226 /note="R -> Q (in EPPK). /FTId=VAR_003823."
227 Region 163
228 /gene="KRT9"
229 /region_name="Variant"
230 /experiment="experimental evidence, no additional details
231 recorded"
232 /note="R -> W (in EPPK). /FTId=VAR_003824."
233 Region 168
234 /gene="KRT9"
235 /region_name="Variant"
236 /experiment="experimental evidence, no additional details
237 recorded"
238 /note="L -> S (in EPPK). /FTId=VAR_003825."
239 Region 172
240 /gene="KRT9"
241 /region_name="Variant"
242 /experiment="experimental evidence, no additional details
243 recorded"
244 /note="Q -> P (in EPPK). /FTId=VAR_010504."
245 Region 189..207
246 /gene="KRT9"
247 /region_name="Region of interest in the sequence"
248 /experiment="experimental evidence, no additional details
249 recorded"
250 /note="Linker 1."
251 Region 208..299
252 /gene="KRT9"
253 /region_name="Region of interest in the sequence"
254 /experiment="experimental evidence, no additional details
255 recorded"
256 /note="Coil 1B."
257 Region 300..322
258 /gene="KRT9"
259 /region_name="Region of interest in the sequence"
260 /experiment="experimental evidence, no additional details
261 recorded"
262 /note="Linker 12."
263 Region 323..461
264 /gene="KRT9"
265 /region_name="Region of interest in the sequence"
266 /experiment="experimental evidence, no additional details
267 recorded"
268 /note="Coil 2."
269 Region 462..623
270 /gene="KRT9"
271 /region_name="Region of interest in the sequence"
272 /experiment="experimental evidence, no additional details
273 recorded"
274 /note="Tail."
275 ORIGIN
276 1 mscrqfsssy lsrsgggggg glgsggsirs sysrfsssgg rggggrfsss sgygggssrv
277 61 cgrggggsfg ysygggsggg fsasslgggf gggsrgfgga sgggysssgg fgggfgggsg
278 121 ggfgggygsg fgglggfggg agggdggilt anekstmqel nsrlasyldk vqaleeannd
279 181 lenkiqdwyd kkgpaaiqkn yspyyntidd lkdqivdltv gnnktlldid ntrmtlddfr
280 241 ikfemeqnlr qgvdadingl rqvldnltme ksdlemqyet lqeelmalkk nhkeemsqlt
281 301 gqnsgdvnve invapgkdlt ktlndmrqey eqliaknrkd ienqyetqit qiehevsssg
282 361 qevqssakev tqlrhgvqel eielqsqlsk kaaleksled tknrycgqlq miqeqisnle
283 421 aqitdvrqei ecqnqeysll lsikmrleke ietyhnlleg gqedfessga gkiglggrgg
284 481 sggsygrgsr ggsggsyggg gsgggygggs gsrggsggsy gggsgsgggs gggygggsgg
285 541 ghsggsgggh sggsggnygg gsgsgggsgg gygggsgsrg gsggshgggs gfggesggsy
286 601 gggeeasgsg ggygggsgks shs
287 //