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[1]
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SEQUENCE FROM NUCLEIC ACID.
TISSUE=Skin;
MEDLINE=95355491; PubMed=7543104; [NCBI, ExPASy, EBI, Israel, Japan]
Takahashi K.,
Paladini R.D.,
Coulombe P.A.;
"Cloning and characterization of multiple human genes and cDNAs encoding highly related type II keratin 6 isoforms.";
J. Biol. Chem. 270:18581-18592(1995).
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[2]
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SEQUENCE FROM NUCLEIC ACID.
TISSUE=Ovary;
Strausberg R.;
Submitted (MAY-2001) to the EMBL/GenBank/DDBJ databases.
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[3]
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SEQUENCE OF 207-563 FROM NUCLEIC ACID.
MEDLINE=83259278; PubMed=6191871; [NCBI, ExPASy, EBI, Israel, Japan]
Hanukoglu I.,
Fuchs E.;
"The cDNA sequence of a Type II cytoskeletal keratin reveals constant and variable structural domains among keratins.";
Cell 33:915-924(1983).
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[4]
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VARIANT TYPE I PC ASN-170 DEL.
MEDLINE=95400309; PubMed=7545493; [NCBI, ExPASy, EBI, Israel, Japan]
Bowden P.E.,
Haley J.L.,
Kansky A.,
Rothnagel J.A.,
Jones D.O.,
Turner R.J.;
"Mutation of a type II keratin gene (K6a) in pachyonychia congenita.";
Nat. Genet. 10:363-365(1995).
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- FUNCTION: THERE ARE TWO TYPES OF CYTOSKELETAL AND MICROFIBRILLAR KERATIN: I (ACIDIC; 40-55 kDa) [K9 TO K20] AND II (NEUTRAL TO BASIC; 56-70 kDa) [K1 TO K8]. BOTH A BASIC AND AN ACIDIC KERATIN ARE REQUIRED FOR FILAMENT ASSEMBLY.
- SUBUNIT: HETERODIMER OF A TYPE I AND A TYPE II KERATIN. KRT6 ISOMERS ASSOCIATE WITH KRT16 AND/OR KRT17.
- TISSUE SPECIFICITY: CONSTITUTIVELY EXPRESSED IN DISTINCT TYPES OF EPITHELIA SUCH AS THOSE IN ORAL MUCOSA, ESOPHAGUS, PAPILLAE OF TONGUE AND HAIR FOLLICLE OUTER ROOT SHEATH.
- DISEASE: DEFECTS IN KRT6A, AS WELL AS IN KRT16, HAVE BEEN FOUND TO BE ASSOCIATED WITH TYPE 1 PACHYONYCHIA CONGENITA (PC) ALSO KNOWN AS JADASSOHN-LEWANDOWSKY SYNDROME. TYPE I PC IS CHARACTERIZED BY ONCHYOGRYPOSIS, PALMOPLANTAR AND FOLLICULAR HYPERKERATOSIS AND ORAL LEUKOKERATOSIS.
- MISCELLANEOUS: THERE ARE AT LEAST SIX ISOFORMS OF HUMAN TYPE II KERATIN 6 (K6), K6A BEING THE MOST ABUNDANT REPRESENTING ABOUT 77% OF ALL FORMS FOUND IN EPITHELIA.
- SIMILARITY: BELONGS TO THE INTERMEDIATE FILAMENT FAMILY.
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This SWISS-PROT entry is copyright. It is produced through a collaboration
between the Swiss Institute of Bioinformatics and the EMBL outstation -
the European Bioinformatics Institute. There are no restrictions on its
use by non-profit institutions as long as its content is in no way
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entities requires a license agreement (See http://www.isb-sib.ch/announce/
or send an email to license@isb-sib.ch).
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10 20 30 40 50 60
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ASTSTTIRSH SSSRRGFSAN SARLPGVSRS GFSSVSVSRS RGSGGLGGAC GGAGFGSRSL
70 80 90 100 110 120
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YGLGGSKRIS IGGGSCAISG GYGSRAGGSY GFGGAGSGFG FGGGAGIGFG LGGGAGLAGG
130 140 150 160 170 180
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FGGPGFPVCP PGGIQEVTVN QSLLTPLNLQ IDPTIQRVRA EEREQIKTLN NKFASFIDKV
190 200 210 220 230 240
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RFLEQQNKVL ETKWTLLQEQ GTKTVRQNLE PLFEQYINNL RRQLDSIVGE RGRLDSELRG
250 260 270 280 290 300
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MQDLVEDFKN KYEDEINKRT AAENEFVTLK KDVDAAYMNK VELQAKADTL TDEINFLRAL
310 320 330 340 350 360
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YDAELSQMQT HISDTSVVLS MDNNRNLDLD SIIAEVKAQY EEIAQRSRAE AESWYQTKYE
370 380 390 400 410 420
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ELQVTAGRHG DDLRNTKQEI AEINRMIQRL RSEIDHVKKQ CANLQAAIAD AEQRGEMALK
430 440 450 460 470 480
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DAKNKLEGLE DALQKAKQDL ARLLKEYQEL MNVKLALDVE IATYRKLLEG EECRLNGEGV
490 500 510 520 530 540
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GQVNISVVQS TVSSGYGGAS GVGSGLGLGG GSSYSYGSGL GVGGGFSSSS GRAIGGGLSS
550 560
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VGGGSSTIKY TTTSSSSRKS YKH
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P02538 in FASTA format |
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