Human Intermediate Filament Database

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Human Intermediate Filament Database - K6c (K6e/h)

Intermediate Filament Details

Protein Name	keratin 6c, K6c
Former Protein Name	K6e/h
Gene Symbol	KRT6C
Intermediate Filament Type	II
HGNC ID	20406
NCBI Gene ID	286887

INTEGRATED SEQUENCE VIEW
Information last updated on 2009-07-21 17:12:45
* variant associated with disease as a risk factor rather than a causal factor.
Note: Sequences are numbered according to latest reference sequence information. Discrepancies may exist with some publications.
Chromosome 12q13.13
Chromosome Strand -
Chromosome GI 51511728
Chromosome RefSeq ID NC_000012.9
51153836 : CGCCTCCAGC CTCCAACGCT CGCCACAGCC CTCTCATCTC CTGGAACCAT : 51153787 -48 : CGCCTCCAGC CTCCAACGCT CGCCACAGCC CTCTCATCTC CTGGAACCAT : 2 1 : M : 1 51153786 : GGCCAGCACA TCCACCACCA TCAGGAGCCA CAGCAGCAGC CGCCGGGGTT : 51153737 3 : GGCCAGCACA TCCACCACCA TCAGGAGCCA CAGCAGCAGC CGCCGGGGTT : 52 2 : A S T S T T I R S H S S S R R G : 17 51153736 : TCAGTGCCAA CTCAGCCAGG CTCCCTGGGG TCAGCCGCTC TGGCTTCAGC : 51153687 53 : TCAGTGCCAA CTCAGCCAGG CTCCCTGGGG TCAGCCGCTC TGGCTTCAGC : 102 18 : F S A N S A R L P G V S R S G F S : 34 51153686 : AGCATCTCCG TGTCCCGCTC CAGGGGCAGT GGTGGCCTGG GTGGTGCATG : 51153637 103 : AGCATCTCCG TGTCCCGCTC CAGGGGCAGT GGTGGCCTGG GTGGTGCATG : 152 35 : S I S V S R S R G S G G L G G A C : 51 51153636 : TGGAGGAGCT GGCTTTGGCA GCCGCAGTCT GTATGGCCTG GGGGGCTCCA : 51153587 153 : TGGAGGAGCT GGCTTTGGCA GCCGCAGTCT GTATGGCCTG GGGGGCTCCA : 202 52 : G G A G F G S R S L Y G L G G S : 67 51153586 : AGAGGATCTC CATTGGAGGG GGCAGCTGTG CCATCAGTGG CGGCTATGGC : 51153537 203 : AGAGGATCTC CATTGGAGGG GGCAGCTGTG CCATCAGTGG CGGCTATGGC : 252 68 : K R I S I G G G S C A I S G G Y G : 84 51153536 : AGCAGAGCCG GAGGCAGCTA TGGCTTTGGT GGCGCCGGGA GTGGATTTGG : 51153487 253 : AGCAGAGCCG GAGGCAGCTA TGGCTTTGGT GGCGCCGGGA GTGGATTTGG : 302 85 : S R A G G S Y G F G G A G S G F G : 101 51153486 : TTTCGGTGGT GGAGCCGGCA TTGGCTTTGG TCTGGGTGGT GGAGCCGGCC : 51153437 303 : TTTCGGTGGT GGAGCCGGCA TTGGCTTTGG TCTGGGTGGT GGAGCCGGCC : 352 102 : F G G G A G I G F G L G G G A G : 117 51153436 : TTGCTGGTGG CTTTGGGGGC CCTGGCTTCC CTGTGTGCCC CCCTGGAGGC : 51153387 353 : TTGCTGGTGG CTTTGGGGGC CCTGGCTTCC CTGTGTGCCC CCCTGGAGGC : 402 118 : L A G G F G G P G F P V C P P G G : 134 51153386 : ATCCAAGAGG TCACCGTCAA CCAGAGTCTC CTGACTCCCC TCAACCTGCA : 51153337 403 : ATCCAAGAGG TCACCGTCAA CCAGAGTCTC CTGACTCCCC TCAACCTGCA : 452 135 : I Q E V T V N Q S L L T P L N L Q : 151 51153336 : AATTGACCCC GCCATCCAGC GGGTGCGGGC CGAGGAGCGT GAGCAGATCA : 51153287 453 : AATTGACCCC GCCATCCAGC GGGTGCGGGC CGAGGAGCGT GAGCAGATCA : 502 152 : I D P A I Q R V R A E E R E Q I : 167 51153286 : AGACCCTCAA CAACAAGTTT GCCTCCTTCA TCGACAAGGT GAGCCAGTGC : 51153237 503 : AGACCCTCAA CAACAAGTTT GCCTCCTTCA TCGACAAG : 540 168 : K T L N N K F A S F I D K : 180 51153236 : CATGCCCTCC ATCGGGCACT TCAGGGTCCC CAGACCAGAA GAGCAACACC : 51153187 51153186 : TTCCTGCTAG GGAGACCTAG GAGGGAGGGA GAAGGGGATT CAGCCCAGCT : 51153137 51153136 : CTGCAGAGAG TGCAGGTGGC TCTCGGTGCA CAGGAGGCAG CACAGATGGG : 51153087 51153086 : CATCACTCCC CCATGGGATC TCTGGAGTGG CCCTCACTCC TGCCTAGGGA : 51153037 51153036 : GAGCCGTAAC TTTTCATAAC CCTGAAGCAC AGATGAGGCC ATCAGAGAGT : 51152987 51152986 : GGAGTAGGTT AATTCTCCCC TCTGAAGTGT TTAAGAGATT ACAAAGCAAA : 51152937 51152936 : TGCCAGGAGT ATATGGGCTG GTAAATTACA CTCTGGGGTC TGGGTAAGAG : 51152887 51152886 : GAAAAAGATT TAGAAAGAAA AGGAAAAGAT AATCTGGCTG GATTAAGAAA : 51152837 51152836 : AAAAGGGACA TAGAAACAAC TGTAAAACAT GGATAAATGC TAATTAATTT : 51152787 51152786 : TAAAAACAGA GAATGACCAT AACATCAGAA TATTTGAGAG GAGACACTAA : 51152737 51152736 : ATGGGAAAGT AGACTGAAAT GTAATCATGA GTCAACATAT AATATCTCTC : 51152687 51152686 : CTAACTAAGA TCCTATCAGT AAAAAAACTG TGTACAATAT ATCAGGTAAT : 51152637 51152636 : TAGTATTTTT AAACTAGATT TGTGATTGTG CCTGGAAAAA GAAGAGAAGA : 51152587 51152586 : AATGTTGAAA CTCACTGATG ATCAATAGCT TACAGCGTGA GAACACCTCA : 51152537 51152536 : ATGGTCCATG GGACAATTTC TCTAGTGAGA CTGGTGGGGT GCAAAGGAGA : 51152487 51152486 : AGGGGTTGGG GGAGCAGAGC TCAGCCTGAG CCTCTCCACA TGCACTGTAG : 51152437 51152436 : TAGCCCAGCA CCATGGGGAC CTCCAAGACC TGCCAGGAAA CTGGATACCA : 51152387 51152386 : GACACTTTTT CTTCCTTCCT TTGCCTGGAA AATGACCATC TTGCTTCCCT : 51152337 51152336 : TCCAGGTGCG GTTCCTAGAG CAGCAGAACA AGGTTCTGGA CACCAAGTGG : 51152287 541 : GTGCG GTTCCTAGAG CAGCAGAACA AGGTTCTGGA CACCAAGTGG : 585 181 : V R F L E Q Q N K V L D T K W : 195 51152286 : ACCCTGCTGC AGGAGCAGGG CACCAAGACT GTGAGGCAGA ACCTGGAGCC : 51152237 586 : ACCCTGCTGC AGGAGCAGGG CACCAAGACT GTGAGGCAGA ACCTGGAGCC : 635 196 : T L L Q E Q G T K T V R Q N L E P : 212 51152236 : GTTGTTCGAG CAGTACATCA ACAACCTCAG GAGGCAGCTG GACAGCATCG : 51152187 636 : GTTGTTCGAG CAGTACATCA ACAACCTCAG GAGGCAGCTG GACAGCATCG : 685 213 : L F E Q Y I N N L R R Q L D S I : 228 51152186 : TCGGGGAACG GGGCCGCCTG GACTCGGAGC TGAGAAACAT GCAGGACCTG : 51152137 686 : TCGGGGAACG GGGCCGCCTG GACTCGGAGC TGAGAAACAT GCAGGACCTG : 735 229 : V G E R G R L D S E L R N M Q D L : 245 51152136 : GTGGAGGACC TCAAGAACAA GTGAGGACTC CATTTCCTGC AGCACACACT : 51152087 736 : GTGGAGGACC TCAAGAACAA : 755 246 : V E D L K N K : 252 51152086 : TCAAGACTAT TGGGTGACCA GGGCCAGATG TGTGTAGGAT TCCTAACAAC : 51152037 51152036 : CCATGTCCAT GGAAATGAAA AGCACAAATT AGTCCCTAGG AGCAAACCTG : 51151987 51151986 : CAAGAACCAC AGATGGTTAT GGGAGGATGG GGGGATTAAA GAAGTGGCAA : 51151937 51151936 : ATTTAGTAGT AGCAAAACTC ATCTCTTTGG CTCTCTGTGG CAGGAAAGCT : 51151887 51151886 : CAATTAGAAT ATATTCCATT CAGGAAATTG TTGAATCCCA AGCTGCTTTT : 51151837 51151836 : CTGTTTCATC CTACCCACTG GCTCATATGT GTCCTATGCC TTTCTTCCTG : 51151787 51151786 : TAGATATGAG GATGAAATCA ACAAGCGCAC AGCAGCAGAG AATGAATTTG : 51151737 756 : ATATGAG GATGAAATCA ACAAGCGCAC AGCAGCAGAG AATGAATTTG : 802 253 : Y E D E I N K R T A A E N E F : 267 51151736 : TGACTCTGAA GAAGGTGAGC AGATGAAGCC GGGGGTTCAA ATTCATTTAG : 51151687 803 : TGACTCTGAA GAAG : 816 268 : V T L K K : 272 51151686 : AAGGAGAGAA GTGGCTCTGT GTCCTCGCTC CCCTGGGAGA GAATTGGCAG : 51151637 51151636 : GAGGACTAGA AGATGGGTAG ATTGGAAAGG TGAGCTCAGG TAACTCCAGG : 51151587 51151586 : TTGTTGGCTC TTTCCCCAGG ATGTGGATGC TGCCTACATG AACAAGGTTG : 51151537 817 : G ATGTGGATGC TGCCTACATG AACAAGGTTG : 847 273 : D V D A A Y M N K V : 282 51151536 : AACTGCAAGC CAAGGCAGAC ACTCTCACAG ATGAGATCAA CTTCCTGAGA : 51151487 848 : AACTGCAAGC CAAGGCAGAC ACTCTCACAG ATGAGATCAA CTTCCTGAGA : 897 283 : E L Q A K A D T L T D E I N F L R : 299 51151486 : GCCTTGTATG ATGCAGTAAG CATCTCCACC ATCCTTCTGT TTACTCTGAT : 51151437 898 : GCCTTGTATG ATGCA : 912 300 : A L Y D A : 304 51151436 : GGGGTCTGCA AAGGGGAGAA GATGTATAGG GTTGGGTATC TCTGTAAATG : 51151387 51151386 : TCAGATGTGA AGTTGATCTT ATGACCTTCT GTTCTGCAGG AGCTGTCCCA : 51151337 913 : G AGCTGTCCCA : 923 305 : E L S Q : 308 51151336 : GATGCAGACC CACATCTCAG ACACATCCGT GGTGCTATCC ATGGACAACA : 51151287 924 : GATGCAGACC CACATCTCAG ACACATCCGT GGTGCTATCC ATGGACAACA : 973 309 : M Q T H I S D T S V V L S M D N : 324 51151286 : ACCGCAACCT GGACCTGGAC AGCATCATCG CTGAGGTCAA GGCCCAATAC : 51151237 974 : ACCGCAACCT GGACCTGGAC AGCATCATCG CTGAGGTCAA GGCCCAATAC : 1023 325 : N R N L D L D S I I A E V K A Q Y : 341 51151236 : GAGGAGATTG CTCAGAGGAG CCGGGCTGAG GCTGAGTCCT GGTACCAGAC : 51151187 1024 : GAGGAGATTG CTCAGAGGAG CCGGGCTGAG GCTGAGTCCT GGTACCAGAC : 1073 342 : E E I A Q R S R A E A E S W Y Q T : 358 51151186 : CAAGGTGAGC AGGGAGTGGG CAGCTGCTGA GGAATCCTTG TGTCCATCCT : 51151137 1074 : CAAG : 1077 359 : K : 359 51151136 : GGAATACCAG AGGACTGCAG ACTTCACTGG GGACATCCCC TGACAGGAAG : 51151087 51151086 : CTGGGGTCCT CTCACAGGAC ATGCACTCTG CACTATTAGA GTAGACATTT : 51151037 51151036 : GGGGAACTTA TGTGCAAGTC AAGGAGGAAA AAGAACCCAA TGCAGGAGGA : 51150987 51150986 : AAGCTGCCAT AGACAAGGAC ATAGTCATCT CTGCATTTAT CTTCACCCTG : 51150937 51150936 : ATTGCTGACT TTTAGAAATT GGTACAGAAT ATTTCTACTC CCTAAAGAAA : 51150887 51150886 : CTAGGCAGGC AGTGGTGCCA TAATGAGGAT CGTCTGTGAC TCCAGAGTTT : 51150837 51150836 : AGTATCCACC CACCACATAA CATCAACTTT TCCTCAAGTT TCTTGAGGAG : 51150787 51150786 : AAGCCATTAG GTCCACTTCA TGACATGCAT GATACACAAG TGAAAGTCAT : 51150737 51150736 : CGCTCCCAGG TAAGAACCCG TAGACACTGT CTCTCTCTCC ACCTCTGGGC : 51150687 51150686 : TGCAGTACGA GGAGCTGCAG GTCACAGCAG GCAGACATGG GGACGACCTG : 51150637 1078 : TACGA GGAGCTGCAG GTCACAGCAG GCAGACATGG GGACGACCTG : 1122 360 : Y E E L Q V T A G R H G D D L : 374 51150636 : CGCAACACCA AGCAGGAGAT TGCTGAGATC AACCGCATGA TCCAGAGGCT : 51150587 1123 : CGCAACACCA AGCAGGAGAT TGCTGAGATC AACCGCATGA TCCAGAGGCT : 1172 375 : R N T K Q E I A E I N R M I Q R L : 391 51150586 : GAGATCTGAG ATCGACCATG TCAAGAAGCA GGTACAGTGA GGTGCAGTGG : 51150537 1173 : GAGATCTGAG ATCGACCATG TCAAGAAGCA G : 1203 392 : R S E I D H V K K Q : 401 51150536 : AGGAAAGAAG CATCATTTTT TGCTAGACCC ATCAGGCAGT CATTAGCCAT : 51150487 51150486 : TATTTGATAT AATTCCTGAA ACGTAAACCA ACACTAGGGT GAGGAACATG : 51150437 51150436 : TGTAGTTCTT GCCCTCAGTG AGAACTCAAT AGAGAAGTGA ATCCCACCCA : 51150387 51150386 : AGAGGATGAG CCTCTGAGGC ACAAGCAAGG CCAGGTCTCA ACAGTCAGGT : 51150337 51150336 : AAAAAGTTAC CACCTCCCCT ACAGATGGTC ATAATTTTGT ATATTTTAAT : 51150287 51150286 : GTGGCATCCA GATGTATTCC TCAAAATCAT TCTTGTAGTT TTGAAAACAG : 51150237 51150236 : CACTCAGTAC AAACCGAGCA TTCATCTTCC ATATGGCTTG TTTTTGGGTC : 51150187 51150186 : CATTGTAGTG TCTCCCATAA GATGCAACGC ACATTCTCAT GCGGGTGCTT : 51150137 51150136 : AATACAAGGG GCATAGGACT TTGTCACTTG ACTCCCAGAC TAGACAAATA : 51150087 51150086 : TTGCCAAATG GAGAAATACT GGACAGGAAG AGTCAAAGCT CATTCTCTGT : 51150037 51150036 : CAATTTTGGG TTACAGGACC CTGGTTCACT AAACAAGGGC CAGCCTCCTC : 51149987 51149986 : CGGAGGAGCA GACAAGAAGT TCCTTCTCTT CCTTTCCCCT CCTAGTGTGC : 51149937 1204 : TGTGC : 1208 402 : C A : 403 51149936 : CAGCCTGCAG GCTGCCATTG CTGATGCTGA GCAGCGTGGG GAGATGGCAC : 51149887 1209 : CAGCCTGCAG GCTGCCATTG CTGATGCTGA GCAGCGTGGG GAGATGGCAC : 1258 404 : S L Q A A I A D A E Q R G E M A : 419 51149886 : TCAAGGATGC TAAGAACAAG CTGGAAGGGC TGGAGGATGC CCTGCAGAAG : 51149837 1259 : TCAAGGATGC TAAGAACAAG CTGGAAGGGC TGGAGGATGC CCTGCAGAAG : 1308 420 : L K D A K N K L E G L E D A L Q K : 436 51149836 : GCCAAGCAGG ACCTGGCCCG GCTGCTGAAG GAGTACCAGG AGCTGATGAA : 51149787 1309 : GCCAAGCAGG ACCTGGCCCG GCTGCTGAAG GAGTACCAGG AGCTGATGAA : 1358 437 : A K Q D L A R L L K E Y Q E L M N : 453 51149786 : TGTCAAGCTG GCCCTGGATG TGGAGATCGC CACCTACCGC AAGCTGCTGG : 51149737 1359 : TGTCAAGCTG GCCCTGGATG TGGAGATCGC CACCTACCGC AAGCTGCTGG : 1408 454 : V K L A L D V E I A T Y R K L L : 469 51149736 : AGGGCGAGGA GTGCAGGTAG GTAACTGACG CGACTTCCTC CAACAGCTGA : 51149687 1409 : AGGGCGAGGA GTGCAG : 1424 470 : E G E E C R : 475 51149686 : GTCCATCTTC AAGGTTCCTG GCACTGAGCA CAATTCTAGG GTGCACTGCT : 51149637 51149636 : CATGGCCGTA ATTGCTCTTC TTGAGAGAAA ACTAAAAGAG CAGTTTCCCA : 51149587 51149586 : TGGACTCTTC CACCCACCGA GGCTGCCCAC ACTGGTCCAG GGAAGGAAGA : 51149537 51149536 : GCTCTCTGAG GTCTCACCCT CCCTGTGTTC CTCTCCACAG GCTGAATGGC : 51149487 1425 : GCTGAATGGC : 1434 476 : L N G : 478 51149486 : GAAGGCGTTG GACAAGTCAA CGTCTGTAAG TACCTTTGCT TGCCTTCCTC : 51149437 1435 : GAAGGCGTTG GACAAGTCAA CGTCT : 1459 479 : E G V G Q V N V : 486 51149436 : CCCTGCCCTC GCACTCTTCT GACTGGGCTC AGGCCGGCAG GATGAGCTCA : 51149387 51149386 : CCGTGGCTTC TTGTGTCCTT GTCCCCTCCC CACCACAGCT GTAGTACAGT : 51149337 1460 : CT GTAGTACAGT : 1471 487 : S V V Q : 490 51149336 : CCACCATCTC CAGTGGCTAT GGCGGTGCCA GCGGTGTCGG CAGTGGCTTA : 51149287 1472 : CCACCATCTC CAGTGGCTAT GGCGGTGCCA GCGGTGTCGG CAGTGGCTTA : 1521 491 : S T I S S G Y G G A S G V G S G L : 507 51149286 : GGCCTGGGTG GAGGAAGCAG CTACTCCTAT GGCAGTGGTC TTGGCATTGG : 51149237 1522 : GGCCTGGGTG GAGGAAGCAG CTACTCCTAT GGCAGTGGTC TTGGCATTGG : 1571 508 : G L G G G S S Y S Y G S G L G I G : 524 51149236 : AGGTGGCTTC AGTTCCAGCA GTGGCAGAGC CATTGGGGGT GGCCTCAGCT : 51149187 1572 : AGGTGGCTTC AGTTCCAGCA GTGGCAGAGC CATTGGGGGT GGCCTCAGCT : 1621 525 : G G F S S S S G R A I G G G L S : 540 51149186 : CTGTTGGAGG CGGCAGTTCC ACCATCAAGT ACACCACCAC CTCCTCCTCC : 51149137 1622 : CTGTTGGAGG CGGCAGTTCC ACCATCAAGT ACACCACCAC CTCCTCCTCC : 1671 541 : S V G G G S S T I K Y T T T S S S : 557 51149136 : AGCAGGAAGA GCTACAAGCA CTAAAGTGCT GCCTCCAGCT CTCGGTCCCA : 51149087 1672 : AGCAGGAAGA GCTACAAGCA CTAAAGTGCT GCCTCCAGCT CTCGGTCCCA : *26 558 : S R K S Y K H : 564 51149086 : CAGTCCTCAG GCCCTTCTCT GGCTGCAGAG CCGTCTCCTC AGGTTGCCTA : 51149037 *27 : CAGTCCTCAG GCCCTTCTCT GGCTGCAGAG CCGTCTCCTC AGGTTGCCTA : *76 51149036 : TCCTCTCCTG GCCTCTAGTC TTCCCTGCTC TCCGAGGTAG AGCTGGGTAT : 51148987 *77 : TCCTCTCCTG GCCTCTAGTC TTCCCTGCTC TCCGAGGTAG AGCTGGGTAT : *126 51148986 : GGATGCTTAG TGCCCTCACT TCTCTCTGTC TATACCTGCC CCATCTGAGC : 51148937 *127 : GGATGCTTAG TGCCCTCACT TCTCTCTGTC TATACCTGCC CCATCTGAGC : *176 51148936 : ACCCATTGCT CACCATCAGA TCAACCTTTG ATTTTACATC ATAATGTATT : 51148887 *177 : ACCCATTGCT CACCATCAGA TCAACCTTTG ATTTTACATC ATAATGTATT : *226 51148886 : CACCAATGGA GCTTCACTTT GTTACTAAAT TATTAATTTC TTGCCTCCAA : 51148837 *227 : CACCAATGGA GCTTCACTTT GTTACTAAAT TATTAATTTC TTGCCTCCAA : *276 51148836 : AATTGTTCTC TCTGAGGCTG AGCATTATAA GAAAATGATC TCTGTTCCTT : 51148787 *277 : AATTGTTCTC TCTGAGGCTG AGCATTATAA GAAAATGATC TCTGTTCCTT : *326 51148786 : TTCATTACTG AAAATCGCCT GGGGCTTATT TCAGAACAAC TTCCACTTAT : 51148737 *327 : TTCATTACTG AAAATCGCCT GGGGCTTATT TCAGAACAAC TTCCACTTAT : *376 51148736 : TTTCCATTGG CCCCCAAACT CCCTAAGTTA AAAGTATTGT GAACCCCCGC : 51148687 *377 : TTTCCATTGG CCCCCAAACT CCCTAAGTTA AAAGTATTGT GAACCCCCGC : *426 51148686 : CCCGCAGTAT GCATGGAAGC ACAAGTGACT AGTCGTATGA TGTACACAGT : 51148637 *427 : CCCGCAGTAT GCATGGAAGC ACAAGTGACT AGTCGTATGA TGTACACAGT : *476 51148636 : CTTTCTCCCT GTGATGATTT CTCTGCTCTT TGCTCTTTGT AATTTCTAAA : 51148587 *477 : CTTTCTCCCT GTGATGATTT CTCTGCTCTT TGCTCTTTGT AATTTCTAAA : *526 51148586 : TAAAGCAGGT TTTAGAATAA ---------- ---------- ---------- : 51148567 *527 : TAAAGCAGGT TTTAGAATAA AAAAAAAAAA AAAAAAAAAA AAAAAAAAAA : *576 51148567 : ---------- ---------- ------ : 51148567 *577 : AAAAAAAAAA AAAAAAAAAA AAAAAA : *602
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mRNA SEQUENCE
Reference sequence last updated on 2009-07-21 17:12:45
RefSeq ID NM_173086.4
GI 155969696
Length 2345 nucleotides
Download File | Text
Sequence
Legend: Blue = CDS, Red = UTR
-48 CGCCTCCAGC CTCCAACGCT CGCCACAGCC CTCTCATCTC CTGGAACCAT 2 3 GGCCAGCACA TCCACCACCA TCAGGAGCCA CAGCAGCAGC CGCCGGGGTT 52 53 TCAGTGCCAA CTCAGCCAGG CTCCCTGGGG TCAGCCGCTC TGGCTTCAGC 102 103 AGCATCTCCG TGTCCCGCTC CAGGGGCAGT GGTGGCCTGG GTGGTGCATG 152 153 TGGAGGAGCT GGCTTTGGCA GCCGCAGTCT GTATGGCCTG GGGGGCTCCA 202 203 AGAGGATCTC CATTGGAGGG GGCAGCTGTG CCATCAGTGG CGGCTATGGC 252 253 AGCAGAGCCG GAGGCAGCTA TGGCTTTGGT GGCGCCGGGA GTGGATTTGG 302 303 TTTCGGTGGT GGAGCCGGCA TTGGCTTTGG TCTGGGTGGT GGAGCCGGCC 352 353 TTGCTGGTGG CTTTGGGGGC CCTGGCTTCC CTGTGTGCCC CCCTGGAGGC 402 403 ATCCAAGAGG TCACCGTCAA CCAGAGTCTC CTGACTCCCC TCAACCTGCA 452 453 AATTGACCCC GCCATCCAGC GGGTGCGGGC CGAGGAGCGT GAGCAGATCA 502 503 AGACCCTCAA CAACAAGTTT GCCTCCTTCA TCGACAAGGT GCGGTTCCTA 552 553 GAGCAGCAGA ACAAGGTTCT GGACACCAAG TGGACCCTGC TGCAGGAGCA 602 603 GGGCACCAAG ACTGTGAGGC AGAACCTGGA GCCGTTGTTC GAGCAGTACA 652 653 TCAACAACCT CAGGAGGCAG CTGGACAGCA TCGTCGGGGA ACGGGGCCGC 702 703 CTGGACTCGG AGCTGAGAAA CATGCAGGAC CTGGTGGAGG ACCTCAAGAA 752 753 CAAATATGAG GATGAAATCA ACAAGCGCAC AGCAGCAGAG AATGAATTTG 802 803 TGACTCTGAA GAAGGATGTG GATGCTGCCT ACATGAACAA GGTTGAACTG 852 853 CAAGCCAAGG CAGACACTCT CACAGATGAG ATCAACTTCC TGAGAGCCTT 902 903 GTATGATGCA GAGCTGTCCC AGATGCAGAC CCACATCTCA GACACATCCG 952 953 TGGTGCTATC CATGGACAAC AACCGCAACC TGGACCTGGA CAGCATCATC 1002 1003 GCTGAGGTCA AGGCCCAATA CGAGGAGATT GCTCAGAGGA GCCGGGCTGA 1052 1053 GGCTGAGTCC TGGTACCAGA CCAAGTACGA GGAGCTGCAG GTCACAGCAG 1102 1103 GCAGACATGG GGACGACCTG CGCAACACCA AGCAGGAGAT TGCTGAGATC 1152 1153 AACCGCATGA TCCAGAGGCT GAGATCTGAG ATCGACCATG TCAAGAAGCA 1202 1203 GTGTGCCAGC CTGCAGGCTG CCATTGCTGA TGCTGAGCAG CGTGGGGAGA 1252 1253 TGGCACTCAA GGATGCTAAG AACAAGCTGG AAGGGCTGGA GGATGCCCTG 1302 1303 CAGAAGGCCA AGCAGGACCT GGCCCGGCTG CTGAAGGAGT ACCAGGAGCT 1352 1353 GATGAATGTC AAGCTGGCCC TGGATGTGGA GATCGCCACC TACCGCAAGC 1402 1403 TGCTGGAGGG CGAGGAGTGC AGGCTGAATG GCGAAGGCGT TGGACAAGTC 1452 1453 AACGTCTCTG TAGTACAGTC CACCATCTCC AGTGGCTATG GCGGTGCCAG 1502 1503 CGGTGTCGGC AGTGGCTTAG GCCTGGGTGG AGGAAGCAGC TACTCCTATG 1552 1553 GCAGTGGTCT TGGCATTGGA GGTGGCTTCA GTTCCAGCAG TGGCAGAGCC 1602 1603 ATTGGGGGTG GCCTCAGCTC TGTTGGAGGC GGCAGTTCCA CCATCAAGTA 1652 1653 CACCACCACC TCCTCCTCCA GCAGGAAGAG CTACAAGCAC TAAAGTGCTG *7 *8 CCTCCAGCTC TCGGTCCCAC AGTCCTCAGG CCCTTCTCTG GCTGCAGAGC *57 *58 CGTCTCCTCA GGTTGCCTAT CCTCTCCTGG CCTCTAGTCT TCCCTGCTCT *107 *108 CCGAGGTAGA GCTGGGTATG GATGCTTAGT GCCCTCACTT CTCTCTGTCT *157 *158 ATACCTGCCC CATCTGAGCA CCCATTGCTC ACCATCAGAT CAACCTTTGA *207 *208 TTTTACATCA TAATGTATTC ACCAATGGAG CTTCACTTTG TTACTAAATT *257 *258 ATTAATTTCT TGCCTCCAAA ATTGTTCTCT CTGAGGCTGA GCATTATAAG *307 *308 AAAATGATCT CTGTTCCTTT TCATTACTGA AAATCGCCTG GGGCTTATTT *357 *358 CAGAACAACT TCCACTTATT TTCCATTGGC CCCCAAACTC CCTAAGTTAA *407 *408 AAGTATTGTG AACCCCCGCC CCGCAGTATG CATGGAAGCA CAAGTGACTA *457 *458 GTCGTATGAT GTACACAGTC TTTCTCCCTG TGATGATTTC TCTGCTCTTT *507 *508 GCTCTTTGTA ATTTCTAAAT AAAGCAGGTT TTAGAATAAA AAAAAAAAAA *557 *558 AAAAAAAAAA AAAAAAAAAA AAAAAAAAAA AAAAAAAAAA AAAAA
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PROTEIN SEQUENCE AND DOMAIN INFORMATION
Reference sequence last updated on 2009-07-21 17:12:45
RefSeq ID NP_775109.2
GI 155969697
Isoelectric Point 8.1636
Molecular Weight 60223 Daltons
Length 564 amino acids
Download File | Text
Sequence
1 MASTSTTIRS HSSSRRGFSA NSARLPGVSR SGFSSISVSR SRGSGGLGGA 50 51 CGGAGFGSRS LYGLGGSKRI SIGGGSCAIS GGYGSRAGGS YGFGGAGSGF 100 101 GFGGGAGIGF GLGGGAGLAG GFGGPGFPVC PPGGIQEVTV NQSLLTPLNL 150 151 QIDPAIQRVR AEEREQIKTL NNKFASFIDK VRFLEQQNKV LDTKWTLLQE 200 201 QGTKTVRQNL EPLFEQYINN LRRQLDSIVG ERGRLDSELR NMQDLVEDLK 250 251 NKYEDEINKR TAAENEFVTL KKDVDAAYMN KVELQAKADT LTDEINFLRA 300 301 LYDAELSQMQ THISDTSVVL SMDNNRNLDL DSIIAEVKAQ YEEIAQRSRA 350 351 EAESWYQTKY EELQVTAGRH GDDLRNTKQE IAEINRMIQR LRSEIDHVKK 400 401 QCASLQAAIA DAEQRGEMAL KDAKNKLEGL EDALQKAKQD LARLLKEYQE 450 451 LMNVKLALDV EIATYRKLLE GEECRLNGEG VGQVNVSVVQ STISSGYGGA 500 501 SGVGSGLGLG GGSSYSYGSG LGIGGGFSSS SGRAIGGGLS SVGGGSSTIK 550 551 YTTTSSSSRK SYKH
Head L1 L12 L2 Tail
1A 1B 2A 2B
Domain Name Probable Starting Amino Acid Position Probable Ending Amino Acid Position
Head 1 163
1A 164 198
L1 199 210
1B 211 311
L12 312 328
2A 329 347
L2 348 355
2B 356 476
Tail 477 564
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MONOCLONAL ANTIBODIES
Information last updated on 2008-08-26 15:29:10
Clone Name Species Reported Specificity Epitope Reference
2.1.D7 rat K5, K6a, K6b, K6c, K8 - Purkis et al, 1990
693-1 rabbit K6a, K6b, K6c - Reichelt et al, 1997
C-10 mouse K6a, K6b, K6c, K8 - Upasani et al, 2004, Kovarík et al, 1988, Macák and Unger, 1991
D5/16 B4 mouse K5, K6a, K6b, K6c - Turashvili et al, 2007, Clover et al, 1997
LHK6 mouse K6a, K6b, K6c - Machesney et al, 1998
LL020 mouse K6a, K6b, K6c - Broekaert et al, 1993
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RELATED SEQUENCES AND MULTIPLE SEQUENCE ALIGNMENT
The following table shows the orthologous sequences in other organisms as indicated by NCBI HomoloGene ID 89226.
Information last updated on 2007-08-17 12:31:22
Organism NCBI Gene ID mRNA Accession Protein Accession Taxonomy division
Pan troglodytes 738560 XM_001143262.1 XP_001143262.1 Primates
Vertebrate ClustalW multiple sequence alignments
Multiple sequence alignments were created using ClustalW for vertebrate sequences and the results available for viewing, download and visualization. Please use the analysis tools to include other sequences.
Type of ClustalW alignment Download in FASTA format View file in FASTA format
Nucleotide file view
Protein file view

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ASSOCIATED DISEASES
Information last updated on 2009-07-23 16:49:39
Click SEQUENCE VARIANTS to find individual mutations.
Disease Name Disease Abbreviation OMIM
Palmoplantar keratoderma, nonepidermolytic (focal) FNEPPK #600962
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SEQUENCE VARIANTS

Note that a single record in the following table may represent multiple people with that particular variant who are in the same family.

Click here to download an Excel spreadsheet of this data.

Click here to open table in a new window (for ease of viewing and printing).

Information last updated on 2009-07-23 16:49:39

* variant associated with disease as a risk factor rather than a causal factor.
Note: Sequences are numbered according to latest reference sequence information. Discrepancies may exist with some publications.

ID DNA Sequence Variant DNA Sequence Variant Type Protein Sequence Variant Protein Sequence Variant Type Domain Associated Disease Reference
13527 c.513_515delCAA Deletion p.Asn172del Deletion - FNEPPK Wilson et al, 2009
13524 c.1384_1410del27 Deletion p.Ile462_Glu470del Deletion - FNEPPK Terheyden et al, 2009
13528 c.513_515delCAA Deletion p.Asn172del Deletion - FNEPPK Wilson et al, 2009
13531 c.1384_1410del27 Deletion p.Ile462_Glu470del Deletion - FNEPPK Wilson et al, 2009
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