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P35527

- K1C9_HUMAN

UniProt

P35527 - K1C9_HUMAN

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Protein

Keratin, type I cytoskeletal 9

Gene
KRT9
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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.2 Publications

GO - Molecular functioni

  1. structural constituent of cytoskeleton Source: ProtInc

GO - Biological processi

  1. epidermis development Source: ProtInc
  2. intermediate filament organization Source: UniProtKB
  3. skin development Source: UniProtKB
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Keratin, type I cytoskeletal 9
Alternative name(s):
Cytokeratin-9
Short name:
CK-9
Keratin-9
Short name:
K9
Gene namesi
Name:KRT9
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:6447. KRT9.

Subcellular locationi

GO - Cellular componenti

  1. extracellular space Source: UniProt
  2. extracellular vesicular exosome Source: UniProt
  3. intermediate filament Source: UniProtKB-KW
  4. nucleus Source: UniProt
Complete GO annotation...

Keywords - Cellular componenti

Intermediate filament, Keratin

Pathology & Biotechi

Involvement in diseasei

Keratoderma, palmoplantar, epidermolytic (EPPK) [MIM:144200]: 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 knuckle pads, thick pads of skin appearing over the proximal phalangeal joints.
Note: The disease is caused by mutations affecting the gene represented in this entry.20 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti157 – 1571M → R in EPPK. 1 Publication
VAR_036805
Natural varianti157 – 1571M → T in EPPK. 1 Publication
Corresponds to variant rs59510579 [ dbSNP | Ensembl ].
VAR_010499
Natural varianti157 – 1571M → V in EPPK. 3 Publications
Corresponds to variant rs58597584 [ dbSNP | Ensembl ].
VAR_010500
Natural varianti160 – 1601L → F in EPPK; with knuckle pads. 1 Publication
Corresponds to variant rs28940896 [ dbSNP | Ensembl ].
VAR_035438
Natural varianti160 – 1601L → V in EPPK. 1 Publication
VAR_010501
Natural varianti161 – 1611N → H in EPPK. 2 Publications
VAR_036806
Natural varianti161 – 1611N → I in EPPK. 2 Publications
VAR_036807
Natural varianti161 – 1611N → K in EPPK. 1 Publication
Corresponds to variant rs57536312 [ dbSNP | Ensembl ].
VAR_003822
Natural varianti161 – 1611N → S in EPPK. 2 Publications
Corresponds to variant rs56707768 [ dbSNP | Ensembl ].
VAR_010502
Natural varianti161 – 1611N → Y in EPPK. 1 Publication
Corresponds to variant rs59296273 [ dbSNP | Ensembl ].
VAR_010503
Natural varianti163 – 1631R → P in EPPK. 1 Publication
VAR_036808
Natural varianti163 – 1631R → Q in EPPK. 5 Publications
Corresponds to variant rs57758262 [ dbSNP | Ensembl ].
VAR_003823
Natural varianti163 – 1631R → W in EPPK. 5 Publications
Corresponds to variant rs59616921 [ dbSNP | Ensembl ].
VAR_003824
Natural varianti167 – 1671Y → WL in EPPK.
VAR_036809
Natural varianti168 – 1681L → S in EPPK. 1 Publication
Corresponds to variant rs61157095 [ dbSNP | Ensembl ].
VAR_003825
Natural varianti171 – 1711V → M in EPPK. 1 Publication
Corresponds to variant rs57019720 [ dbSNP | Ensembl ].
VAR_035439
Natural varianti172 – 1721Q → P in EPPK. 1 Publication
Corresponds to variant rs59878153 [ dbSNP | Ensembl ].
VAR_010504
Natural varianti458 – 4581L → F in EPPK. 1 Publication
Corresponds to variant rs58120120 [ dbSNP | Ensembl ].
VAR_036810

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi163 – 1631R → QHA: Leads to aggregate formation. 1 Publication

Keywords - Diseasei

Disease mutation, Palmoplantar keratoderma

Organism-specific databases

MIMi144200. phenotype.
149100. phenotype.
Orphaneti2199. Epidermolytic palmoplantar keratoderma.
PharmGKBiPA30235.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 623623Keratin, type I cytoskeletal 9PRO_0000063640Add
BLAST

Proteomic databases

MaxQBiP35527.
PaxDbiP35527.
PeptideAtlasiP35527.
PRIDEiP35527.
ProMEXiP35527.

2D gel databases

DOSAC-COBS-2DPAGEP35527.

PTM databases

PhosphoSiteiP35527.

Expressioni

Tissue specificityi

Expressed in the terminally differentiated epidermis of palms and soles.1 Publication

Inductioni

Induced by intrinsic regulatory mechanisms and by extrinsic signals from a subset of dermal palmoplantar fibroblasts.1 Publication

Gene expression databases

ArrayExpressiP35527.
BgeeiP35527.
CleanExiHS_KRT9.
GenevestigatoriP35527.

Organism-specific databases

HPAiHPA007261.
HPA009673.

Interactioni

Subunit structurei

Heterotetramer of two type I and two type II keratins.

Protein-protein interaction databases

BioGridi110055. 44 interactions.
IntActiP35527. 19 interactions.
MINTiMINT-4998976.
STRINGi9606.ENSP00000246662.

Structurei

3D structure databases

ProteinModelPortaliP35527.
SMRiP35527. Positions 160-188, 204-302, 318-460.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 152152HeadAdd
BLAST
Regioni153 – 461309RodAdd
BLAST
Regioni153 – 18836Coil 1AAdd
BLAST
Regioni189 – 20719Linker 1Add
BLAST
Regioni208 – 29992Coil 1BAdd
BLAST
Regioni300 – 32223Linker 12Add
BLAST
Regioni323 – 461139Coil 2Add
BLAST
Regioni462 – 623162TailAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi15 – 2612Poly-GlyAdd
BLAST

Sequence similaritiesi

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG148410.
HOGENOMiHOG000230975.
HOVERGENiHBG013015.
InParanoidiP35527.
KOiK07604.
OMAiEMQYETL.
OrthoDBiEOG7FV3Q8.
PhylomeDBiP35527.
TreeFamiTF332742.

Family and domain databases

InterProiIPR001664. IF.
IPR018039. Intermediate_filament_CS.
IPR002957. Keratin_I.
[Graphical view]
PANTHERiPTHR23239. PTHR23239. 1 hit.
PfamiPF00038. Filament. 1 hit.
[Graphical view]
PRINTSiPR01248. TYPE1KERATIN.
PROSITEiPS00226. IF. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P35527-1 [UniParc]FASTAAdd to Basket

« Hide

MSCRQFSSSY LSRSGGGGGG GLGSGGSIRS SYSRFSSSGG GGGGGRFSSS    50
SGYGGGSSRV CGRGGGGSFG YSYGGGSGGG FSASSLGGGF GGGSRGFGGA 100
SGGGYSSSGG FGGGFGGGSG GGFGGGYGSG FGGFGGFGGG AGGGDGGILT 150
ANEKSTMQEL NSRLASYLDK VQALEEANND LENKIQDWYD KKGPAAIQKN 200
YSPYYNTIDD LKDQIVDLTV GNNKTLLDID NTRMTLDDFR IKFEMEQNLR 250
QGVDADINGL RQVLDNLTME KSDLEMQYET LQEELMALKK NHKEEMSQLT 300
GQNSGDVNVE INVAPGKDLT KTLNDMRQEY EQLIAKNRKD IENQYETQIT 350
QIEHEVSSSG QEVQSSAKEV TQLRHGVQEL EIELQSQLSK KAALEKSLED 400
TKNRYCGQLQ MIQEQISNLE AQITDVRQEI ECQNQEYSLL LSIKMRLEKE 450
IETYHNLLEG GQEDFESSGA GKIGLGGRGG SGGSYGRGSR GGSGGSYGGG 500
GSGGGYGGGS GSRGGSGGSY GGGSGSGGGS GGGYGGGSGG GHSGGSGGGH 550
SGGSGGNYGG GSGSGGGSGG GYGGGSGSRG GSGGSHGGGS GFGGESGGSY 600
GGGEEASGSG GGYGGGSGKS SHS 623
Length:623
Mass (Da):62,064
Last modified:June 16, 2009 - v3
Checksum:i45C833749B63873D
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti157 – 1571M → R in EPPK. 1 Publication
VAR_036805
Natural varianti157 – 1571M → T in EPPK. 1 Publication
Corresponds to variant rs59510579 [ dbSNP | Ensembl ].
VAR_010499
Natural varianti157 – 1571M → V in EPPK. 3 Publications
Corresponds to variant rs58597584 [ dbSNP | Ensembl ].
VAR_010500
Natural varianti160 – 1601L → F in EPPK; with knuckle pads. 1 Publication
Corresponds to variant rs28940896 [ dbSNP | Ensembl ].
VAR_035438
Natural varianti160 – 1601L → V in EPPK. 1 Publication
VAR_010501
Natural varianti161 – 1611N → H in EPPK. 2 Publications
VAR_036806
Natural varianti161 – 1611N → I in EPPK. 2 Publications
VAR_036807
Natural varianti161 – 1611N → K in EPPK. 1 Publication
Corresponds to variant rs57536312 [ dbSNP | Ensembl ].
VAR_003822
Natural varianti161 – 1611N → S in EPPK. 2 Publications
Corresponds to variant rs56707768 [ dbSNP | Ensembl ].
VAR_010502
Natural varianti161 – 1611N → Y in EPPK. 1 Publication
Corresponds to variant rs59296273 [ dbSNP | Ensembl ].
VAR_010503
Natural varianti163 – 1631R → P in EPPK. 1 Publication
VAR_036808
Natural varianti163 – 1631R → Q in EPPK. 5 Publications
Corresponds to variant rs57758262 [ dbSNP | Ensembl ].
VAR_003823
Natural varianti163 – 1631R → W in EPPK. 5 Publications
Corresponds to variant rs59616921 [ dbSNP | Ensembl ].
VAR_003824
Natural varianti167 – 1671Y → WL in EPPK.
VAR_036809
Natural varianti168 – 1681L → S in EPPK. 1 Publication
Corresponds to variant rs61157095 [ dbSNP | Ensembl ].
VAR_003825
Natural varianti171 – 1711V → M in EPPK. 1 Publication
Corresponds to variant rs57019720 [ dbSNP | Ensembl ].
VAR_035439
Natural varianti172 – 1721Q → P in EPPK. 1 Publication
Corresponds to variant rs59878153 [ dbSNP | Ensembl ].
VAR_010504
Natural varianti458 – 4581L → F in EPPK. 1 Publication
Corresponds to variant rs58120120 [ dbSNP | Ensembl ].
VAR_036810

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti12 – 132SR → T in AAC60619. 1 Publication
Sequence conflicti12 – 132SR → T in CAA52924. 1 Publication
Sequence conflicti41 – 411G → R in AAC60619. 1 Publication
Sequence conflicti41 – 411G → R in CAA82315. 1 Publication
Sequence conflicti41 – 411G → R in CAA52924. 1 Publication
Sequence conflicti134 – 1341F → L in AAC60619. 1 Publication
Sequence conflicti134 – 1341F → L in CAA82315. 1 Publication
Sequence conflicti134 – 1341F → L in CAA52924. 1 Publication
Sequence conflicti157 – 17014MQELN…SYLDK → HLGAGSTPITASQP in AAI21171. 1 PublicationAdd
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
Z29074 mRNA. Translation: CAA82315.1.
S69510 mRNA. Translation: AAC60619.1.
X75015 Genomic DNA. Translation: CAA52924.1.
AC019349 Genomic DNA. No translation available.
AB001594 mRNA. Translation: BAA19418.1.
BC121170 mRNA. Translation: AAI21171.1.
CCDSiCCDS32654.1.
PIRiI37984.
RefSeqiNP_000217.2. NM_000226.3.
UniGeneiHs.654569.

Genome annotation databases

EnsembliENST00000246662; ENSP00000246662; ENSG00000171403.
GeneIDi3857.
KEGGihsa:3857.
UCSCiuc002hxe.4. human.

Polymorphism databases

DMDMi239938886.

Cross-referencesi

Web resourcesi

Human Intermediate Filament Mutation Database

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
Z29074 mRNA. Translation: CAA82315.1 .
S69510 mRNA. Translation: AAC60619.1 .
X75015 Genomic DNA. Translation: CAA52924.1 .
AC019349 Genomic DNA. No translation available.
AB001594 mRNA. Translation: BAA19418.1 .
BC121170 mRNA. Translation: AAI21171.1 .
CCDSi CCDS32654.1.
PIRi I37984.
RefSeqi NP_000217.2. NM_000226.3.
UniGenei Hs.654569.

3D structure databases

ProteinModelPortali P35527.
SMRi P35527. Positions 160-188, 204-302, 318-460.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 110055. 44 interactions.
IntActi P35527. 19 interactions.
MINTi MINT-4998976.
STRINGi 9606.ENSP00000246662.

PTM databases

PhosphoSitei P35527.

Polymorphism databases

DMDMi 239938886.

2D gel databases

DOSAC-COBS-2DPAGE P35527.

Proteomic databases

MaxQBi P35527.
PaxDbi P35527.
PeptideAtlasi P35527.
PRIDEi P35527.
ProMEXi P35527.

Protocols and materials databases

DNASUi 3857.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000246662 ; ENSP00000246662 ; ENSG00000171403 .
GeneIDi 3857.
KEGGi hsa:3857.
UCSCi uc002hxe.4. human.

Organism-specific databases

CTDi 3857.
GeneCardsi GC17M039722.
H-InvDB HIX0039018.
HGNCi HGNC:6447. KRT9.
HPAi HPA007261.
HPA009673.
MIMi 144200. phenotype.
149100. phenotype.
607606. gene.
neXtProti NX_P35527.
Orphaneti 2199. Epidermolytic palmoplantar keratoderma.
PharmGKBi PA30235.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG148410.
HOGENOMi HOG000230975.
HOVERGENi HBG013015.
InParanoidi P35527.
KOi K07604.
OMAi EMQYETL.
OrthoDBi EOG7FV3Q8.
PhylomeDBi P35527.
TreeFami TF332742.

Miscellaneous databases

GeneWikii Keratin_9.
GenomeRNAii 3857.
NextBioi 15177.
PROi P35527.
SOURCEi Search...

Gene expression databases

ArrayExpressi P35527.
Bgeei P35527.
CleanExi HS_KRT9.
Genevestigatori P35527.

Family and domain databases

InterProi IPR001664. IF.
IPR018039. Intermediate_filament_CS.
IPR002957. Keratin_I.
[Graphical view ]
PANTHERi PTHR23239. PTHR23239. 1 hit.
Pfami PF00038. Filament. 1 hit.
[Graphical view ]
PRINTSi PR01248. TYPE1KERATIN.
PROSITEi PS00226. IF. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular characterization of the body site-specific human epidermal cytokeratin 9: cDNA cloning, amino acid sequence, and tissue specificity of gene expression."
    Langbein L., Heid H.W., Moll I., Franke W.W.
    Differentiation 55:57-72(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], PARTIAL PROTEIN SEQUENCE, FUNCTION, TISSUE SPECIFICITY.
    Tissue: Foot sole tissue.
  2. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS EPPK LYS-161; GLN-163 AND TRP-163.
  3. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
    Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
    , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
    Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Bienvenut W.V.
    Submitted (AUG-2005) to UniProtKB
    Cited for: PROTEIN SEQUENCE OF 14-29, IDENTIFICATION BY MASS SPECTROMETRY.
    Tissue: Cervix carcinoma.
  5. "Keratin 9 point mutation in the pedigree of epidermolytic hereditary palmoplantar keratoderma perturbs keratin intermediate filament network formation."
    Kobayashi S., Tanaka T., Matsuyoshi N., Imamura S.
    FEBS Lett. 386:149-155(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 147-372, VARIANT EPPK GLN-163.
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 157-623.
  7. Cited for: PROTEIN SEQUENCE OF 450-466.
  8. "Demonstration of the pathogenic effect of point mutated keratin 9 in vivo."
    Kobayashi S., Kore-eda S., Tanaka T.
    FEBS Lett. 447:39-43(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, MUTAGENESIS OF ARG-163.
  9. "Regulation of keratin 9 in nonpalmoplantar keratinocytes by palmoplantar fibroblasts through epithelial-mesenchymal interactions."
    Yamaguchi Y., Itami S., Tarutani M., Hosokawa K., Miura H., Yoshikawa K.
    J. Invest. Dermatol. 112:483-488(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: INDUCTION.
  10. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  11. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  12. "Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma."
    Hennies H.-C., Zehender D., Kunze J., Kuester W., Reis A.
    Hum. Genet. 93:649-654(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS EPPK VAL-157 AND PRO-172.
  13. "Mutations of keratin 9 in two families with palmoplantar epidermolytic hyperkeratosis."
    Bonifas J.M., Matsumura K., Chen M.A., Berth-Jones J., Hutchinson P.E., Zloczower M., Fritsch P.O., Epstein E.H. Jr.
    J. Invest. Dermatol. 103:474-477(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT EPPK SER-161.
  14. "Epidermolytic palmoplantar keratoderma cosegregates with a keratin 9 mutation in a pedigree with breast and ovarian cancer."
    Torchard D., Blanchet-Bardon C., Serova O., Langbein L., Narod S., Janin N., Goguel A.F., Bernheim A., Franke W.W., Lenoir G.M., Feunteun J.
    Nat. Genet. 6:106-110(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT EPPK TYR-161.
  15. "Mutations in the 1A domain of keratin 9 in patients with epidermolytic palmoplantar keratoderma."
    Rothnagel J.A., Wojcik S., Liefer K.M., Dominey A.M., Huber M., Hohl D., Roop D.R.
    J. Invest. Dermatol. 104:430-433(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS EPPK TRP-163 AND SER-168.
  16. "A novel mutation of a leucine residue in coil 1A of keratin 9 in epidermolytic palmoplantar keratoderma."
    Endo H., Hatamochi A., Shinkai H.
    J. Invest. Dermatol. 109:113-115(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT EPPK VAL-160.
  17. "Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland."
    Covello S.P., Irvine A.D., McKenna K.E., Munro C.S., Nevin N.C., Smith F.J.D., Uitto J., McLean W.H.I.
    J. Invest. Dermatol. 111:1207-1209(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS EPPK THR-157; VAL-157 AND GLN-163.
  18. "Keratin 9 mutations in the coil 1A region in epidermolytic palmoplantar keratoderma."
    Szalai S., Szalai C., Becker K., Torok E.
    Pediatr. Dermatol. 16:430-435(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS EPPK GLN-163 AND STOP-170.
  19. "Epidermolytic palmoplantar keratoderma in a Hispanic kindred resulting from a mutation in the keratin 9 gene."
    Warmuth I., Cserhalmi-Friedman P.B., Schneiderman P., Grossman M.E., Christiano A.M.
    Clin. Exp. Dermatol. 25:244-246(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT EPPK TRP-163.
  20. "Epidermolytic palmoplantar keratoderma of Vorner: re-evaluation of Vorner's original family and identification of a novel keratin 9 mutation."
    Kuster W., Reis A., Hennies H.C.
    Arch. Dermatol. Res. 294:268-272(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT EPPK ILE-161.
  21. "Diagnosis and confirmation of epidermolytic palmoplantar keratoderma by the identification of mutations in keratin 9 using denaturing high-performance liquid chromatography."
    Rugg E.L., Common J.E., Wilgoss A., Stevens H.P., Buchan J., Leigh I.M., Kelsell D.P.
    Br. J. Dermatol. 146:952-957(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS EPPK VAL-157; TRP-163; GLN-163 AND MET-171.
  22. "Novel N160I mutation of keratin 9 in a large pedigree from Hungary with epidermolytic palmoplantar keratoderma."
    Csikos M., Hollo P., Becker K., Racz E., Horvath A., Karpati S.
    Acta Derm. Venereol. 83:303-305(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT EPPK ILE-161.
  23. "A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads."
    Lu Y., Guo C., Liu Q., Zhang X., Cheng L., Li J., Chen B., Gao G., Zhou H., Guo Y., Li Y., Gong Y.
    Am. J. Med. Genet. A 120:345-349(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT EPPK PHE-160.
  24. "Keratin 9 gene mutations in five Korean families with epidermolytic palmoplantar keratoderma."
    Lee J.-H., Ahn K.-S., Lee C.-H., Youn S.-J., Kim J.-W., Lee D.-Y., Lee E.-S., Steinert P.M., Yang J.-M.
    Exp. Dermatol. 12:876-881(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS EPPK HIS-161; SER-161 AND TRP-163.
  25. "A novel mutation of keratin 9 in a large Chinese family with epidermolytic palmoplantar keratoderma."
    He X.-H., Zhang X.-N., Mao W., Chen H.-P., Xu L.-R., Chen H., He X.-L., Le Y.-P.
    Br. J. Dermatol. 150:647-651(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT EPPK TYR-167 DEL TRP-LEU INS.
  26. "A novel keratin 9 gene mutation (Asn160His) in a Taiwanese family with epidermolytic palmoplantar keratoderma."
    Lin J.-H., Lin M.-H., Yang M.-H., Chao S.-C.
    Clin. Exp. Dermatol. 29:308-310(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT EPPK HIS-161.
  27. "A novel mutation of keratin 9 gene (R162P) in a Japanese family with epidermolytic palmoplantar keratoderma."
    Kon A., Itagaki K., Yoneda K., Takagaki K.
    Arch. Dermatol. Res. 296:375-378(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT EPPK PRO-163.
  28. "L457F missense mutation within the 2B rod domain of keratin 9 in a Japanese family with epidermolytic palmoplantar keratoderma."
    Kon A., Ito N., Kudo Y., Nomura K., Yoneda K., Hanada K., Hashimoto I., Takagaki K.
    Br. J. Dermatol. 155:624-626(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT EPPK PHE-458.
  29. "A novel keratin 9 gene mutation (Met156Arg) in a Japanese patient with epidermolytic palmoplantar keratoderma."
    Shimazu K., Tsunemi Y., Hattori N., Saeki H., Komine M., Adachi M., Tamaki K.
    Int. J. Dermatol. 45:1128-1130(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT EPPK ARG-157.

Entry informationi

Entry nameiK1C9_HUMAN
AccessioniPrimary (citable) accession number: P35527
Secondary accession number(s): O00109, Q0IJ47, Q14665
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: June 16, 2009
Last modified: September 3, 2014
This is version 146 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Miscellaneous

There are two types of cytoskeletal and microfibrillar keratin, I (acidic) and II (neutral to basic) (40-55 and 56-70 kDa, respectively).

Caution

Was originally (1 Publication) thought to be a 60 kDa chain of placental scatter protein.

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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