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| Protein Name | keratin 1, K1 |
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| Gene Symbol | KRT1 |
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| Intermediate Filament Type | II |
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| HGNC ID | 6412 |
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| OMIM ID | *139350 |
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| NCBI Gene ID | 3848 |
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 INTEGRATED SEQUENCE VIEW |
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Information last updated on 2009-07-21 17:12:23 * 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 | 12q12-q13 |
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| Chromosome Strand | - |
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| Chromosome GI | 51511728 |
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| Chromosome RefSeq ID | NC_000012.9 |
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51360458 : AGAGGAGTGT TTAGCTCCTT CCCTTACTCT ACCTTGCTCC TACTTTTCTC : 51360409
-59 : AGAGGAGTGT TTAGCTCCTT CCCTTACTCT ACCTTGCTCC TACTTTTCTC : -10
51360408 : TAAGTCAACA TGAGTCGACA GTTTAGTTCC AGGTCTGGGT ACCGAAGTGG : 51360359
-9 : TAAGTCAACA TGAGTCGACA GTTTAGTTCC AGGTCTGGGT ACCGAAGTGG : 41
1 : M S R Q F S S R S G Y R S G : 14
51360358 : AGGGGGCTTC AGCTCTGGCT CTGCTGGGAT CATCAACTAC CAGCGCAGGA : 51360309
42 : AGGGGGCTTC AGCTCTGGCT CTGCTGGGAT CATCAACTAC CAGCGCAGGA : 91
15 : G G F S S G S A G I I N Y Q R R : 30
51360308 : CCACCAGCAG CTCCACACGC CGCAGTGGAG GAGGTGGTGG GAGATTTTCA : 51360259
92 : CCACCAGCAG CTCCACACGC CGCAGTGGAG GAGGTGGTGG GAGATTTTCA : 141
31 : T T S S S T R R S G G G G G R F S : 47
51360258 : AGCTGTGGTG GTGGTGGTGG TAGCTTTGGT GCTGGTGGTG GATTTGGAAG : 51360209
142 : AGCTGTGGTG GTGGTGGTGG TAGCTTTGGT GCTGGTGGTG GATTTGGAAG : 191
48 : S C G G G G G S F G A G G G F G S : 64
VARIANTS : T : VARIANTS
51360208 : TCGGAGTCTT GTTAACCTTG GTGGCAGTAA AAGCATCTCC ATAAGTGTGG : 51360159
192 : TCGGAGTCTT GTTAACCTTG GTGGCAGTAA AAGCATCTCC ATAAGTGTGG : 241
65 : R S L V N L G G S K S I S I S V : 80
VARIANTS : I : VARIANTS
51360158 : CTAGAGGAGG TGGACGTGGT AGTGGCTTTG GTGGTGGTTA TGGTGGTGGT : 51360109
242 : CTAGAGGAGG TGGACGTGGT AGTGGCTTTG GTGGTGGTTA TGGTGGTGGT : 291
81 : A R G G G R G S G F G G G Y G G G : 97
51360108 : GGCTTTGGTG GTGGTGGCTT TGGTGGTGGT GGCTTTGGTG GAGGTGGCAT : 51360059
292 : GGCTTTGGTG GTGGTGGCTT TGGTGGTGGT GGCTTTGGTG GAGGTGGCAT : 341
98 : G F G G G G F G G G G F G G G G I : 114
51360058 : TGGGGGTGGT GGCTTTGGTG GTTTTGGCAG TGGTGGTGGT GGTTTTGGTG : 51360009
342 : TGGGGGTGGT GGCTTTGGTG GTTTTGGCAG TGGTGGTGGT GGTTTTGGTG : 391
115 : G G G G F G G F G S G G G G F G : 130
51360008 : GAGGTGGCTT TGGGGGTGGT GGATATGGGG GTGGTTATGG TCCTGTCTGC : 51359959
392 : GAGGTGGCTT TGGGGGTGGT GGATATGGGG GTGGTTATGG TCCTGTCTGC : 441
131 : G G G F G G G G Y G G G Y G P V C : 147
VARIANTS : G : VARIANTS
VARIANTS : A C : VARIANTS
51359958 : CCTCCTGGTG GCATACAAGA AGTCACTATC AACCAGAGCC TTCTTCAGCC : 51359909
442 : CCTCCTGGTG GCATACAAGA AGTCACTATC AACCAGAGCC TTCTTCAGCC : 491
148 : P P G G I Q E V T I N Q S L L Q P : 164
VARIANTS : D P : VARIANTS
VARIANTS : G : VARIANTS
VARIANTS : dddd dddddddd T C : VARIANTS
51359908 : CCTCAATGTG GAGATTGACC CTGAGATCCA AAAGGTGAAG TCTCGAGAAA : 51359859
492 : CCTCAATGTG GAGATTGACC CTGAGATCCA AAAGGTGAAG TCTCGAGAAA : 541
165 : L N V E I D P E I Q K V K S R E : 180
VARIANTS : ddd ddddddd N P : VARIANTS
VARIANTS : ddddd dddddddddd : VARIANTS
VARIANTS : ddddd dddddddddd : VARIANTS
VARIANTS : C : VARIANTS
VARIANTS : C T GA A GG C : VARIANTS
51359858 : GGGAGCAAAT CAAGTCACTC AACAACCAAT TTGCCTCCTT CATTGACAAG : 51359809
542 : GGGAGCAAAT CAAGTCACTC AACAACCAAT TTGCCTCCTT CATTGACAAG : 591
181 : R E Q I K S L N N Q F A S F I D K : 197
VARIANTS : P F S I P : VARIANTS
VARIANTS : dddddddddd dddddddddd dddddddddd dddddddddd ddddddddd : VARIANTS
VARIANTS : dddddddddd dddddddddd dddddddddd dddddddddd ddddddddd : VARIANTS
VARIANTS : T C : VARIANTS
VARIANTS : K L : VARIANTS
VARIANTS : C : VARIANTS
VARIANTS : AAdddd : VARIANTS
51359808 : GTGAGTTTCT CTCTCATTGC ACTGGTAGGG CTGCCGCTGG TCCACTTGGG : 51359759
51359758 : ATTGGTGCAG TCAAAACACA GTAGGTTTGA ACCTCAAGTT TCCATGTTTA : 51359709
51359708 : CATGATTAAA AGGATGTTTT GTGGAATGGT CTCCTAGGAG ATATGTTAGA : 51359659
51359658 : TGTATGCTTG TGAATGGTGT TAATGACTCT CTCTTTGACA AAGGGTTCGT : 51359609
51359608 : GGTCGACCTA AAGGTGGGTC AGTGTGACAT TAACATTTAA GTGCTTTTTA : 51359559
51359558 : TTCAGCTCTT GAGCGGAATT GGGACTCATA TCTGTTGAAT GAAGATAATA : 51359509
51359508 : GAAATGGGGC TAACTGAACT TTCCAGGGTG CAAGTGAGAA CCCTGGAAAG : 51359459
51359458 : GTCTTCCTAA CCATAGAAAG GGAGTTGAGT GTGAACATAG TATAGAGTGT : 51359409
51359408 : TATTGTAGCA GAAAACATGT GGTCAGTCAG TGCCAAACAT CTTTTGCTGT : 51359359
51359358 : CAGAGGGGAG CTCTGCCTTC TAATAATTTT ACATTGGTAC TGGATGAGGC : 51359309
51359308 : TAGAGTTTTT TTATACTAAT ATCTCCAAAA ATCAGCTCTA AAAAACTCAG : 51359259
51359258 : ATAAACCATT TTTTTAATTT TTTGCTTAAT CATTAATAGT GCCAATCCAA : 51359209
51359208 : GGTTATCCAC AACAAATTTC AAATCCAATT TTGAATTTTC CTGATATACT : 51359159
51359158 : TTTGAAATGT GTGTGTGTCC TGGGGATGCA AACCAGTTTT TATGGTAATA : 51359109
51359108 : TACCTAACAA AATTTTGGAA GGCAAATCTC TTAAATACCA TGCACCTATT : 51359059
51359058 : TCAAAACATA ATTGCAATAA TTCTGTATGC GCTTTGCTAT TGGTATTTGT : 51359009
51359008 : TTAGTTACTC CCTTCCAAGC CCTCTCTGAA TTAACAAGTT GGGTTTTATT : 51358959
51358958 : ATGCAGATGA TATTAACTTG ATCATCTTCT TCCTATTTCT CTGTCATGGT : 51358909
51358908 : CAGAAGATAG GAATTGAGGT TCTTTTCCAA ATGAGGCACA GTTCTCCATG : 51358859
51358858 : GCTATGAGAC TCCATTTATG CATCAGGAGT AAAGGGGTCT TGTGTTTTTA : 51358809
VARIANTS : C : VARIANTS
51358808 : GGTGAGGTTC CTGGAGCAGC AGAACCAGGT ACTGCAAACA AAATGGGAGC : 51358759
592 : GTGAGGTTC CTGGAGCAGC AGAACCAGGT ACTGCAAACA AAATGGGAGC : 640
198 : V R F L E Q Q N Q V L Q T K W E : 213
VARIANTS : P : VARIANTS
VARIANTS : C : VARIANTS
51358758 : TGCTGCAGCA GGTAGATACC TCCACTAGAA CCCATAATTT AGAGCCCTAC : 51358709
641 : TGCTGCAGCA GGTAGATACC TCCACTAGAA CCCATAATTT AGAGCCCTAC : 690
214 : L L Q Q V D T S T R T H N L E P Y : 230
VARIANTS : P : VARIANTS
VARIANTS : T A : VARIANTS
51358708 : TTTGAGTCAT TCATCAACAA TCTCCGAAGG AGAGTGGACC AACTGAAGAG : 51358659
691 : TTTGAGTCAT TCATCAACAA TCTCCGAAGG AGAGTGGACC AACTGAAGAG : 740
231 : F E S F I N N L R R R V D Q L K S : 247
VARIANTS : L : VARIANTS
51358658 : TGATCAATCT CGGTTGGATT CGGAACTGAA GAACATGCAG GACATGGTGG : 51358609
741 : TGATCAATCT CGGTTGGATT CGGAACTGAA GAACATGCAG GACATGGTGG : 790
248 : D Q S R L D S E L K N M Q D M V : 263
VARIANTS : A : VARIANTS
51358608 : AGGATTACCG GAACAAGTAA GGGACCCTGT CTGGGCAGTT CTTAACTTTT : 51358559
791 : AGGATTACCG GAACAA : 806
264 : E D Y R N K : 269
VARIANTS : Q : VARIANTS
51358558 : GCTGTAAAAG AGTTCCAGAA AGTAATAAGC TAAGATCATG AAGCAGCATG : 51358509
51358508 : TAGCTATGTC TTTTCTTAGG TTAGAGGCAC ATCAGTTTGA CATTTTCAGA : 51358459
51358458 : AATCTTCATT TTCTCAGGAG ATGGAAATAG TCTAGTGGTT TTATTGCTCA : 51358409
51358408 : GTAGAAAGTA GTGGCCAATA TGTCCTAGGT TCATAATAGA AAGGCAGTGA : 51358359
51358358 : TAGGCAATGC CACCTTTAGT TTAGAATGCT GGACTTCAGG TCTTACCACC : 51358309
51358308 : TCTGAATCTC CTAATTGTTT CTGCTTTCCT GCAGGTATGA GGATGAAATC : 51358259
807 : GTATGA GGATGAAATC : 822
270 : Y E D E I : 274
51358258 : AACAAGCGGA CAAATGCAGA GAATGAATTT GTGACCATCA AGAAGGTAAG : 51358209
823 : AACAAGCGGA CAAATGCAGA GAATGAATTT GTGACCATCA AGAAG : 867
275 : N K R T N A E N E F V T I K K : 289
51358208 : CAAATTCTGT AGGACGGAAC TCACATTTGA AATAAATAAG GGAAGAGGGT : 51358159
51358158 : CTCCAATTAC TAAGCAGAAA GCAGCCATGA TATGGAGAGC CAGGTAGTAG : 51358109
51358108 : ACCTGGGGAG TATATGGAGT GGGGCTATAT TTTCACATCA TCATGGACCT : 51358059
51358058 : GGACTGATCC AGGCACTTGG CTTCTCCATA TTTCCCAGCA CCTTACATAG : 51358009
51358008 : TAAGTGGAGT GGCAGATTCT CAGCAAGCCA GGCACACTCC CTTGATGGTG : 51357959
51357958 : CTATCCGGGG GTGGGACAGT TAGGGAACTG TGATTTACCT GGGGCAAAAA : 51357909
51357908 : GGAGTGGAGT AGACCCAAAG CTCCTTTTTT TGCTTGGAGA ATCCCCTCAC : 51357859
51357858 : AGGTAATGAG AGGGACCTGC CCTGGAGAGA ATGTGCCTTC ATGATGTCCC : 51357809
51357808 : TTGTTCCTCT AGGATGTGGA TGGTGCTTAT ATGACCAAGG TGGACCTTCA : 51357759
868 : GATGTGGA TGGTGCTTAT ATGACCAAGG TGGACCTTCA : 905
290 : D V D G A Y M T K V D L Q : 302
51357758 : GGCCAAACTT GACAACTTGC AGCAGGAAAT TGATTTCCTT ACAGCACTCT : 51357709
906 : GGCCAAACTT GACAACTTGC AGCAGGAAAT TGATTTCCTT ACAGCACTCT : 955
303 : A K L D N L Q Q E I D F L T A L : 318
51357708 : ACCAAGCAGT AAGTCTTCCA GTTTCAACCA AGTTTATCTA AATGGAGAGT : 51357659
956 : ACCAAGCA : 963
319 : Y Q A : 321
51357658 : TTTTAAGCCT GAACCCACAA CGATTCAGAA GAATAGATAT TTATCTTTTA : 51357609
51357608 : TTTTCTGACT GCTTTCTCTG TCTAAGTTGT TTTTTGTTTT AGTGCTGTAA : 51357559
51357558 : GAGTCACTAA CCTATTATGT CTTGCAGGAG TTGTCTCAGA TGCAGACTCA : 51357509
964 : GAG TTGTCTCAGA TGCAGACTCA : 986
322 : E L S Q M Q T Q : 329
VARIANTS : T : VARIANTS
51357508 : AATCAGTGAA ACTAATGTCA TCCTCTCTAT GGACAACAAC CGCAGTCTCG : 51357459
987 : AATCAGTGAA ACTAATGTCA TCCTCTCTAT GGACAACAAC CGCAGTCTCG : 1036
330 : I S E T N V I L S M D N N R S L : 345
VARIANTS : V : VARIANTS
51357458 : ACCTGGACAG CATCATTGCT GAGGTCAAGG CCCAGTACGA GGATATAGCC : 51357409
1037 : ACCTGGACAG CATCATTGCT GAGGTCAAGG CCCAGTACGA GGATATAGCC : 1086
346 : D L D S I I A E V K A Q Y E D I A : 362
51357408 : CAGAAGAGCA AAGCTGAGGC CGAGTCCTTG TACCAGAGCA AGGTGAGTGG : 51357359
1087 : CAGAAGAGCA AAGCTGAGGC CGAGTCCTTG TACCAGAGCA AG : 1128
363 : Q K S K A E A E S L Y Q S K : 376
51357358 : GCTGAAAGCC TAGCCAGTTT CCCTGAAATG GCTTGTCTTG CTATCCTGTG : 51357309
51357308 : TTATCTCATG TATGTGTGCC TGTGCCATGC TGAGTTCTGC CTACATTTAA : 51357259
51357258 : CAAACGCTAT CTACCATCTT TAGTATGAAG AGCTGCAGAT CACTGCTGGC : 51357209
1129 : TATGAAG AGCTGCAGAT CACTGCTGGC : 1155
377 : Y E E L Q I T A G : 385
51357208 : AGACATGGGG ATAGTGTGAG AAATTCAAAG ATAGAAATTT CTGAGCTGAA : 51357159
1156 : AGACATGGGG ATAGTGTGAG AAATTCAAAG ATAGAAATTT CTGAGCTGAA : 1205
386 : R H G D S V R N S K I E I S E L N : 402
VARIANTS : A : VARIANTS
51357158 : TCGTGTGATC CAGAGACTTA GATCTGAAAT CGACAATGTC AAGAAGCAGG : 51357109
1206 : TCGTGTGATC CAGAGACTTA GATCTGAAAT CGACAATGTC AAGAAGCAG : 1254
403 : R V I Q R L R S E I D N V K K Q : 418
VARIANTS : iii : VARIANTS
51357108 : TATGTGCTTT CTCCTTCTAC CACTCAGCTG TATGGAATGG GGGTAACCCT : 51357059
VARIANTS : iiiiiiiiii iiiiiiiiii iiiiiiiiii iiiiiiiiii iiiiiiiiii : VARIANTS
51357058 : CAGGTAAAGG GCGAGTGCTT TCCTAGTTTT GAATCTTGCA ATTCATCCCA : 51357009
VARIANTS : iiiiiiiiii iiiiiiiiii iiiiiiiiii iiiiiiiiii iiiiiiiiii : VARIANTS
51357008 : AGGCTACATT ATTATCCCTG GTTCCTTTTG TGACTATGCT AGTTTCCAGA : 51356959
VARIANTS : iiiiiiiiii iiiiiiiiii iiiiiiiiii iiiiiiiiii iiiiiiiiii : VARIANTS
51356958 : ATGCAGCCAT CATGCTGGGT TCTCTTTAGG GAAATCTGTG AGAATGGCCT : 51356909
VARIANTS : iiiiiiiiii iiiiiiiiii iiiiiiiiii iiiiiiiiii iiiiiiiiii : VARIANTS
51356908 : AGTAGAGAAA GATGGGATGG TCAATGTGAG TGATCTAGCC TATGACCCAA : 51356859
VARIANTS : iiiiiiiiii iiiiiiiiii iiiiiiiiii iiiiiiiiii iiiiiiiiii : VARIANTS
51356858 : AGTGGACTTA AGAGTTGGGG AGTGAGAGGA AGGGCAGCCA GGAGGTTTTA : 51356809
VARIANTS : iiiiiiiiii iiiiiiiiii iiiiiiiiii iiiiiiiiii iiiiiiiiii : VARIANTS
51356808 : GAGTAGGTGT TTAGAAGAAT GTCAAGTCTG TAAGGGTTGT AGGAGCCTTG : 51356759
VARIANTS : iiiiiiiiii iiiiiiiiii iiiiiiiiii iiiiiiiiii iiiiiiiiii : VARIANTS
51356758 : ACTCAGGGCC AAGAGAGGCT GTTGAGTTAT CCCTAAGGTC TTTTAAGGAA : 51356709
VARIANTS : iiiiiiiiii iiiiiiiiii iiiiiiiiii iiiiiiiiii iiiiiiiiii : VARIANTS
51356708 : GTCAACATGG TGATGTGTTA TCTGGAGGTG GGTGTGAGAT GACTTAAGGC : 51356659
VARIANTS : iiiiiiiiii iiiiiiiiii iiiiiiiiii iiiiiiiiii iiiiiiiiii : VARIANTS
51356658 : CAAGTGGTTC TGTTGGACTC ATTATTGGCC TCACTGGAGT GGGGAGACCA : 51356609
VARIANTS : iiiiiiiiii iiiiiiiiii iiiiiiiiii iiiiiiiiii iiiiiiiiii : VARIANTS
51356608 : ATTGGGATGA GGAGGCCTAG TGGGGAATGC ATATTATGAG AGGGTGTCAT : 51356559
VARIANTS : iiiiiiiiii iiiiiiiiii iiiiiiiiii iiiiiiiiii iiiiiiiiii : VARIANTS
51356558 : ATTCTTTTTC AGATCTCCAA CTTGCAGCAG TCCATCAGTG ATGCAGAGCA : 51356509
1255 : ATCTCCAA CTTGCAGCAG TCCATCAGTG ATGCAGAGCA : 1292
419 : I S N L Q Q S I S D A E Q : 431
VARIANTS : iiiiiiiiii iiii : VARIANTS
51356508 : GCGTGGCGAG AATGCCCTCA AGGATGCCAA GAACAAGCTG AATGACCTGG : 51356459
1293 : GCGTGGCGAG AATGCCCTCA AGGATGCCAA GAACAAGCTG AATGACCTGG : 1342
432 : R G E N A L K D A K N K L N D L : 447
VARIANTS : T : VARIANTS
VARIANTS : ddddddd dddddddddd : VARIANTS
51356458 : AGGATGCCCT GCAGCAGGCC AAGGAAGACC TGGCCCGCCT GCTGCGCGAC : 51356409
1343 : AGGATGCCCT GCAGCAGGCC AAGGAAGACC TGGCCCGCCT GCTGCGCGAC : 1392
448 : E D A L Q Q A K E D L A R L L R D : 464
VARIANTS : ddddddd dddddddddd : VARIANTS
VARIANTS : ddddddd A A TTC C : VARIANTS
51356408 : TACCAGGAGC TGATGAACAC AAAGCTGGCC CTGGATCTGG AGATTGCCAC : 51356359
1393 : TACCAGGAGC TGATGAACAC CAAGCTGGCC CTGGATCTGG AGATTGCCAC : 1442
465 : Y Q E L M N T K L A L D L E I A T : 481
VARIANTS : ddddd D T P : VARIANTS
VARIANTS : K F : VARIANTS
VARIANTS : G C A CG : VARIANTS
51356358 : CTACAGGACC CTCCTGGAGG GAGAAGAAAG CAGGTGAGGA AGGGACGCTG : 51356309
1443 : CTACAGGACC CTCCTGGAGG GAGAAGAAAG CAG : 1475
482 : Y R T L L E G E E S R : 492
VARIANTS : C P K Q : VARIANTS
VARIANTS : G : VARIANTS
51356308 : GGAGTCGAAC CTCTTCTCAT GGTCTTCCTT CCTTGCAAGC TGATTGTTGT : 51356259
51356258 : TGAAGATGCA GCCATCTGAT TGCAGCTTGT GCTGGGTATG GGGAAATGAA : 51356209
51356208 : AAGTACACGG AGCAGGAGGA AGGACCTAGT TTTACTTTGG GAGCTGGAGT : 51356159
51356158 : CCCAAGCTGT TTATTTTTTT CTTCTAGGGC TGTAACATAT CTAGAAAGAG : 51356109
51356108 : CTTTGAGGTG GAGCAAATTA TTCTTTATCT GGGCTGCCTC AGATGGCAGC : 51356059
51356058 : TGGCCTAAAG TCGGCATCTT TAGAGGGGGC CTTCATTGGC TGCAAGGCTC : 51356009
51356008 : TTGTCTCGTT TATATGGGAA TTTCTCCGTG TTTGTACTCT TGCTGAGAAA : 51355959
51355958 : AAATGACAGG TCTGGGAGGC CAGAGGGGAT TGGATTAAGT TTCAGATTAA : 51355909
51355908 : GTGCATTGGA GAAGACCCAG ATGGGGAAAG TCTTCAAGGT GGTGGAGCGG : 51355859
51355858 : GGAATGGGGA AGCGGTTTGG GAAGCTGGAG TGTCCTGAGG AATTTTCTTA : 51355809
51355808 : TTTTCTCCTA CAGGATGTCT GGAGAATGTG CCCCGAACGT GAGTGTGTGT : 51355759
1476 : GATGTCT GGAGAATGTG CCCCGAACGT GAGTGTGT : 1510
493 : M S G E C A P N V S V : 503
51355758 : AAGTACAAGT CGATTTCTCA GGGGCATGTG CAGGCTTTGT TGGGCTGGAA : 51355709
51355708 : ACGGAGTTGA GGTTGAAAAT AACTGAGCTT CCTCTTGCAG CTGTGAGCAC : 51355659
1511 : CTGTGAGCAC : 1520
504 : S V S T : 507
VARIANTS : d d : VARIANTS
51355658 : AAGCCACACC ACCATCAGTG GAGGTGGCAG CCGAGGAGGT GGCGGCGGTG : 51355609
1521 : AAGCCACACC ACCATCAGTG GAGGTGGCAG CCGAGGAGGT GGCGGCGGTG : 1570
508 : S H T T I S G G G S R G G G G G : 523
VARIANTS : f : VARIANTS
VARIANTS : dddddddddd dddddddddd dddddd dd : VARIANTS
51355608 : GCTACGGCTC TGGAGGTAGC AGCTATGGCT CCGGAGGTGG TAGCTATGGT : 51355559
1571 : GCTACGGCTC TGGAGGTAGC AGCTATGGCT CCGGAGGTGG TAGCTATGGT : 1620
524 : G Y G S G G S S Y G S G G G S Y G : 540
VARIANTS : dddddddddd dddddddddd ddddd f : VARIANTS
VARIANTS : d dddd dddddddddd : VARIANTS
51355558 : TCTGGAGGTG GCGGCGGCGG CGGCCGTGGC AGCTATGGCT CCGGAGGTAG : 51355509
1621 : TCTGGAGGTG GCGGCGGCGG CGGCCGTGGC AGCTATGGCT CCGGAGGTAG : 1670
541 : S G G G G G G G R G S Y G S G G S : 557
VARIANTS : f ddd dddddddddd : VARIANTS
VARIANTS : ddddddd : VARIANTS
51355508 : CAGCTACGGC TCCGGAGGTG GCAGCTATGG CTCTGGAGGT GGCGGCGGCG : 51355459
1671 : CAGCTACGGC TCCGGAGGTG GCAGCTATGG CTCTGGAGGT GGCGGCGGCG : 1720
558 : S Y G S G G G S Y G S G G G G G : 573
VARIANTS : dddddd : VARIANTS
VARIANTS : ii : VARIANTS
51355458 : GCCATGGCAG CTACGGCTCC GGAAGCAGCA GTGGGGGCTA CAGAGGTGGC : 51355409
1721 : GCCATGGCAG CTACGGCTCC GGAAGCAGCA GTGGGGGCTA CAGAGGTGGC : 1770
574 : G H G S Y G S G S S S G G Y R G G : 590
VARIANTS : f : VARIANTS
51355408 : TCTGGAGGCG GCGGCGGCGG CAGCTCTGGC GGCCGGGGCT CTGGCGGCGG : 51355359
1771 : TCTGGAGGCG GCGGCGGCGG CAGCTCTGGC GGCCGGGGCT CTGGCGGCGG : 1820
591 : S G G G G G G S S G G R G S G G G : 607
51355358 : GAGCTCTGGA GGCTCCATAG GAGGCCGGGG ATCCAGCTCT GGGGGTGTCA : 51355309
1821 : GAGCTCTGGA GGCTCCATAG GAGGCCGGGG ATCCAGCTCT GGGGGTGTCA : 1870
608 : S S G G S I G G R G S S S G G V : 623
51355308 : AGTCCTCTGG TGGCAGTTCC AGCGTGAAGT TTGTTTCTAC CACTTATTCC : 51355259
1871 : AGTCCTCTGG TGGCAGTTCC AGCGTGAAGT TTGTTTCTAC CACTTATTCC : 1920
624 : K S S G G S S S V K F V S T T Y S : 640
51355258 : GGAGTAACCA GATAAAGAGA TGCCCTCTGT TTCATTAGCT CTAGTTCTCC : 51355209
1921 : GGAGTAACCA GATAAAGAGA TGCCCTCTGT TTCATTAGCT CTAGTTCTCC : *35
641 : G V T R : 644
51355208 : CCCAGCATCA CTAACAAATA TGCTTGGCAA GACCGAGGTC GATTTGTCCC : 51355159
*36 : CCCAGCATCA CTAACAAATA TGCTTGGCAA GACCGAGGTC GATTTGTCCC : *85
51355158 : AGCCTTACCG GAGAAAAGAG CTATGGTTAG TTACACTAGC TCATCCTATT : 51355109
*86 : AGCCTTACCG GAGAAAAGAG CTATGGTTAG TTACACTAGC TCATCCTATT : *135
51355108 : CCCCCAGCTC TTTCTTTTCT GCTGTTTCCC AATGAAGTTT TCAGATCAGT : 51355059
*136 : CCCCCAGCTC TTTCTTTTCT GCTGTTTCCC AATGAAGTTT TCAGATCAGT : *185
51355058 : GGCAATCTCA GTCCCCTGGC TATGACCCTG CTTTGTTCTT TCCCTGAGAA : 51355009
*186 : GGCAATCTCA GTCCCCTGGC TATGACCCTG CTTTGTTCTT TCCCTGAGAA : *235
51355008 : ACAGTTCAGC AGTGACCACC ACCCACATGA CATTTCAAAG CACCTCCTTA : 51354959
*236 : ACAGTTCAGC AGTGACCACC ACCCACATGA CATTTCAAAG CACCTCCTTA : *285
51354958 : AGCCAGCCAG AGTAGGACCA GTTAGACCCA GGGTGTGGAC AGCTCCTTAG : 51354909
*286 : AGCCAGCCAG AGTAGGACCA GTTAGACCCA GGGTGTGGAC AGCTCCTTAG : *335
51354908 : CATCTTATCT CTGTGCTGTT TTGGTTTTGT ACATAAGGTG TAAGCAAGTT : 51354859
*336 : CATCTTATCT CTGTGCTGTT TTGGTTTTGT ACATAAGGTG TAAGCAAGTT : *385
51354858 : GTTTTTCTTT TGTGGAGAGG TCTTAAACTC CCCATTTCCT TGTTTTGCTG : 51354809
*386 : GTTTTTCTTT TGTGGAGAGG TCTTAAACTC CCCATTTCCT TGTTTTGCTG : *435
51354808 : CAATAAACTG CATTTGAAAT TC : 51354787
*436 : CAATAAACTG CATTTGAAAT TC : *457
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| mRNA SEQUENCE |
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Reference sequence last updated on 2009-07-21 17:12:23 | RefSeq ID | NM_006121.3 |
|---|
| GI | 119395749 |
|---|
| Length | 2451 nucleotides |
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| Download | File | Text |
|---|
| Sequence | Legend: Blue = CDS, Red = UTR -59 AGAGGAGTGT TTAGCTCCTT CCCTTACTCT ACCTTGCTCC TACTTTTCTC -10
-9 TAAGTCAACA TGAGTCGACA GTTTAGTTCC AGGTCTGGGT ACCGAAGTGG 41
42 AGGGGGCTTC AGCTCTGGCT CTGCTGGGAT CATCAACTAC CAGCGCAGGA 91
92 CCACCAGCAG CTCCACACGC CGCAGTGGAG GAGGTGGTGG GAGATTTTCA 141
142 AGCTGTGGTG GTGGTGGTGG TAGCTTTGGT GCTGGTGGTG GATTTGGAAG 191
192 TCGGAGTCTT GTTAACCTTG GTGGCAGTAA AAGCATCTCC ATAAGTGTGG 241
242 CTAGAGGAGG TGGACGTGGT AGTGGCTTTG GTGGTGGTTA TGGTGGTGGT 291
292 GGCTTTGGTG GTGGTGGCTT TGGTGGTGGT GGCTTTGGTG GAGGTGGCAT 341
342 TGGGGGTGGT GGCTTTGGTG GTTTTGGCAG TGGTGGTGGT GGTTTTGGTG 391
392 GAGGTGGCTT TGGGGGTGGT GGATATGGGG GTGGTTATGG TCCTGTCTGC 441
442 CCTCCTGGTG GCATACAAGA AGTCACTATC AACCAGAGCC TTCTTCAGCC 491
492 CCTCAATGTG GAGATTGACC CTGAGATCCA AAAGGTGAAG TCTCGAGAAA 541
542 GGGAGCAAAT CAAGTCACTC AACAACCAAT TTGCCTCCTT CATTGACAAG 591
592 GTGAGGTTCC TGGAGCAGCA GAACCAGGTA CTGCAAACAA AATGGGAGCT 641
642 GCTGCAGCAG GTAGATACCT CCACTAGAAC CCATAATTTA GAGCCCTACT 691
692 TTGAGTCATT CATCAACAAT CTCCGAAGGA GAGTGGACCA ACTGAAGAGT 741
742 GATCAATCTC GGTTGGATTC GGAACTGAAG AACATGCAGG ACATGGTGGA 791
792 GGATTACCGG AACAAGTATG AGGATGAAAT CAACAAGCGG ACAAATGCAG 841
842 AGAATGAATT TGTGACCATC AAGAAGGATG TGGATGGTGC TTATATGACC 891
892 AAGGTGGACC TTCAGGCCAA ACTTGACAAC TTGCAGCAGG AAATTGATTT 941
942 CCTTACAGCA CTCTACCAAG CAGAGTTGTC TCAGATGCAG ACTCAAATCA 991
992 GTGAAACTAA TGTCATCCTC TCTATGGACA ACAACCGCAG TCTCGACCTG 1041
1042 GACAGCATCA TTGCTGAGGT CAAGGCCCAG TACGAGGATA TAGCCCAGAA 1091
1092 GAGCAAAGCT GAGGCCGAGT CCTTGTACCA GAGCAAGTAT GAAGAGCTGC 1141
1142 AGATCACTGC TGGCAGACAT GGGGATAGTG TGAGAAATTC AAAGATAGAA 1191
1192 ATTTCTGAGC TGAATCGTGT GATCCAGAGA CTTAGATCTG AAATCGACAA 1241
1242 TGTCAAGAAG CAGATCTCCA ACTTGCAGCA GTCCATCAGT GATGCAGAGC 1291
1292 AGCGTGGCGA GAATGCCCTC AAGGATGCCA AGAACAAGCT GAATGACCTG 1341
1342 GAGGATGCCC TGCAGCAGGC CAAGGAAGAC CTGGCCCGCC TGCTGCGCGA 1391
1392 CTACCAGGAG CTGATGAACA CCAAGCTGGC CCTGGATCTG GAGATTGCCA 1441
1442 CCTACAGGAC CCTCCTGGAG GGAGAAGAAA GCAGGATGTC TGGAGAATGT 1491
1492 GCCCCGAACG TGAGTGTGTC TGTGAGCACA AGCCACACCA CCATCAGTGG 1541
1542 AGGTGGCAGC CGAGGAGGTG GCGGCGGTGG CTACGGCTCT GGAGGTAGCA 1591
1592 GCTATGGCTC CGGAGGTGGT AGCTATGGTT CTGGAGGTGG CGGCGGCGGC 1641
1642 GGCCGTGGCA GCTATGGCTC CGGAGGTAGC AGCTACGGCT CCGGAGGTGG 1691
1692 CAGCTATGGC TCTGGAGGTG GCGGCGGCGG CCATGGCAGC TACGGCTCCG 1741
1742 GAAGCAGCAG TGGGGGCTAC AGAGGTGGCT CTGGAGGCGG CGGCGGCGGC 1791
1792 AGCTCTGGCG GCCGGGGCTC TGGCGGCGGG AGCTCTGGAG GCTCCATAGG 1841
1842 AGGCCGGGGA TCCAGCTCTG GGGGTGTCAA GTCCTCTGGT GGCAGTTCCA 1891
1892 GCGTGAAGTT TGTTTCTACC ACTTATTCCG GAGTAACCAG ATAAAGAGAT *6
*7 GCCCTCTGTT TCATTAGCTC TAGTTCTCCC CCAGCATCAC TAACAAATAT *56
*57 GCTTGGCAAG ACCGAGGTCG ATTTGTCCCA GCCTTACCGG AGAAAAGAGC *106
*107 TATGGTTAGT TACACTAGCT CATCCTATTC CCCCAGCTCT TTCTTTTCTG *156
*157 CTGTTTCCCA ATGAAGTTTT CAGATCAGTG GCAATCTCAG TCCCCTGGCT *206
*207 ATGACCCTGC TTTGTTCTTT CCCTGAGAAA CAGTTCAGCA GTGACCACCA *256
*257 CCCACATGAC ATTTCAAAGC ACCTCCTTAA GCCAGCCAGA GTAGGACCAG *306
*307 TTAGACCCAG GGTGTGGACA GCTCCTTAGC ATCTTATCTC TGTGCTGTTT *356
*357 TGGTTTTGTA CATAAGGTGT AAGCAAGTTG TTTTTCTTTT GTGGAGAGGT *406
*407 CTTAAACTCC CCATTTCCTT GTTTTGCTGC AATAAACTGC ATTTGAAATT *456
*457 C
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| MONOCLONAL ANTIBODIES |
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Information last updated on 2008-08-26 14:09:19 | Clone Name | Species | Reported Specificity | Epitope | Reference |
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| 17βG3 | mouse | GFAP, K1, K10, vimentin | - | Gown and Vogel, 1984 | | 34βE12 | mouse | K1, K5 | - | Gown and Vogel, 1982, Miettinen and Fetsch, 2000 | | 34βB4 | mouse | K1 | - | Gown and Vogel, 1984 | | AE2 | mouse | K1, K2, K10 | - | Dhouailly et al, 1989, Cooper and Sun, 1986 | | CK2E | mouse | K1, K2, K5 | - | Collin et al, 1992 | | DE-SCK | mouse | Degraded K1, Degraded K10 | - | Ivanyi et al, 1989 | | KA5 | mouse | K1, K10 | - | Hormia et al, 1987 | | LL017 | mouse | K1 | VSTTYSGVTR (C-terminal) | Leigh et al, 1993 | | TS4 | mouse | K1, K5, K7, K8, K15 | - | Sundström et al, 1989, Upasani et al, 2004 |
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| RELATED SEQUENCES AND MULTIPLE SEQUENCE ALIGNMENT |
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The following table shows the orthologous sequences in other organisms as indicated by NCBI HomoloGene ID 38146. Information last updated on 2007-08-17 12:30:53 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 |
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| Nucleotide | file | view | | Protein | file | view |
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| SEQUENCE VARIANTS |
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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 2009-08-05 16:00:01
* 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 |
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| 13513 | c.1310T>C | Substitution | p.Leu437Pro | Substitution | - | NEPPK | Liu et al, 2009 | | 13536 | c.698C>T | Substitution | p.Ser233Leu | Substitution | - | NEPPK | Grimberg et al, 2009 | | 13538 | c.698C>T | Substitution | p.Ser233Leu | Substitution | - | NEPPK | Grimberg et al, 2009 | | 13541 | c.693T>G | Substitution | p.Phe231Leu | Substitution | - | NEPPK | Grimberg et al, 2009 | | 8714 | c.221A>T | Substitution | p.Lys74Ile | Substitution | Head | NEPPK | Kimonis et al, 1994 | | 9437 | c.464T>G | Substitution | p.Val155Gly | Substitution | Head | BCIE/EHK | Yang et al, 1994 | | 8724 | c.464T>A | Substitution | p.Val155Asp | Substitution | Head | BCIE/EHK | Whittock et al, 2001 | | 8707 | c.482T>C | Substitution | p.Leu161Pro | Substitution | Head | BCIE/EHK | Chipev et al, 1992 | | 9593 | c.502_513del12 | Deletion | p.Glu168_Pro171del | Deletion | Head | - | Virtanen et al, 2001 | | 8959 | c.508_519del12 | Deletion | p.Asp170_Ile173del | Deletion | Head | BCIE/EHK | Virtanen et al, 2003 | | 8725 | c.531G>T | Substitution | p.Lys177Asn | Substitution | Head | BCIE/EHK | Virtanen et al, 2001 | | 9267 | c.531G>T | Substitution | p.Lys177Asn | Substitution | Head | BCIE/EHK | Virtanen et al, 2003 | | 9482 | c.536G>C | Substitution | p.Arg179Pro | Substitution | Head | BCIE/EHK | Yang et al, 1996 | | 8711 | c.556T>C | Substitution | p.Ser186Pro | Substitution | 1A | BCIE/EHK | McLean et al, 1994 | | 9085 | c.559C>T | Substitution | p.Leu187Phe | Substitution | 1A | BCIE/EHK | Uezato et al, 2005 | | 11733 | c.559C>T | Substitution | p.Leu187Phe | Substitution | 1A | BCIE/EHK | Math et al, 2006 | | 8708 | c.563A>G | Substitution | p.Asn188Ser | Substitution | 1A | BCIE/EHK | Yang et al, 1994 | | 8712 | c.563A>G | Substitution | p.Asn188Ser | Substitution | 1A | BCIE/EHK | McLean et al, 1994 | | 8720 | c.563A>C | Substitution | p.Asn188Thr | Substitution | 1A | BCIE/EHK | Arin et al, 1999 | | 8727 | c.563A>G | Substitution | p.Asn188Ser | Substitution | 1A | BCIE/EHK | Nomura et al, 2001 | | 9238 | c.563A>G | Substitution | p.Asn188Ser | Substitution | 1A | GS | Gach et al, 2005 | | 8729 | c.564C>A | Substitution | p.Asn188Lys | Substitution | 1A | BCIE/EHK | Lee et al, 2002 | | 11727 | c.571T>A | Substitution | p.Phe191Ile | Substitution | 1A | BCIE/EHK | Chassaing et al, 2006 | | 8958 | c.572T>G | Substitution | p.Phe191Cys | Substitution | 1A | BCIE/EHK | Virtanen et al, 2003 | | 8726 | c.573T>G | Substitution | p.Phe191Leu | Substitution | 1A | BCIE/EHK | Virtanen et al, 2001 | | 8709 | c.577T>C | Substitution | p.Ser193Pro | Substitution | 1A | BCIE/EHK | Yang et al, 1994 | | 9591 | c.591+1G>C | Substitution | p.? | Unknown | Unknown | BCIE/EHK | Virtanen et al, 2001 | | 9592 | c.591+1G>A | Substitution | p.? | Unknown | Unknown | BCIE/EHK | Virtanen et al, 2001 | | 9595 | c.591+2T>A | Substitution | p.Val176_Lys197del | Deletion | Head, 1A | PPK | Terron-Kwiatkowski et al, 2002 | | 11778 | c.591+2T>A | Substitution | p.Val176_Lys197del | Deletion | Head, 1A | BCIE/EHK | Tsubota et al, 2007 | | 9280 | c.591+3_591+6delGAGT | Deletion | p.Val176_Lys197del | Deletion | Head, 1A | BCIE/EHK | Tal et al, 2005 | | 9094 | c.623T>C | Substitution | p.Leu208Pro | Substitution | 1A | BCIE/EHK | Liu et al, 2006 | | 8723 | c.641T>C | Substitution | p.Leu214Pro | Substitution | 1A | BCIE/EHK | Cserhalmi-Friedman et al, 2000 | | 9091 | c.698C>T | Substitution | p.Ser233Leu | Substitution | 1B | EPPK | Terron-Kwiatkowski et al, 2006 | | 11520 | c.698C>T | Substitution | p.Ser233Leu | Substitution | 1B | EPPK | Terron-Kwiatkowski et al, 2006 | | 8716 | c.1019A>T | Substitution | p.Asp340Val | Substitution | L12 | BCIE/EHK | Kremer et al, 1998 | | 9210 | c.1072A>T | Substitution | p.Asn358Tyr | Substitution | 2A | - | Terron-Kwiatkowski et al, 2006 | | 9338 | c.1254+1G>A | Substitution | p.Gln418_Ile419ins18 | Insertion | 2B | EPPK | Hatsell et al, 2001 | | 11402 | c.1254+1G>A | Substitution | p.Gln418_Ile419ins18 | Insertion | 2B | EPPK | Hatsell et al, 2001 | | 11403 | c.1254+1G>A | Substitution | p.Gln418_Ile419ins18 | Insertion | 2B | EPPK | Hatsell et al, 2001 | | 11425 | c.1376_1399del24 | Deletion | p.Ala459_Gln466del | Deletion | 2B | PPK | Terron-Kwiatkowski et al, 2002 | | 8728 | c.1432G>A | Substitution | p.Glu478Lys | Substitution | 2B | BCIE/EHK | Sun et al, 2002 | | 9489 | c.1434G>T | Substitution | p.Glu478Asp | Substitution | 2B | BCIE/EHK | Yang et al, 1999 | | 12616 | c.1434G>T | Substitution | p.Glu478Asp | Substitution | 2B | BCIE/EHK | Tsubota et al, 2008 | | 8718 | c.1435A>T | Substitution | p.Ile479Phe | Substitution | 2B | BCIE/EHK | Sybert et al, 1999 | | 8721 | c.1435A>T | Substitution | p.Ile479Phe | Substitution | 2B | BCIE/EHK | Michael et al, 1999 | | 8717 | c.1436T>C | Substitution | p.Ile479Thr | Substitution | 2B | BCIE/EHK | Sybert et al, 1999 | | 8722 | c.1436T>C | Substitution | p.Ile479Thr | Substitution | 2B | BCIE/EHK | Arin et al, 2000 | | 9084 | c.1436T>C | Substitution | p.Ile479Thr | Substitution | 2B | EPPK | Terron-Kwiatkowski et al, 2004 | | 8957 | c.1441A>C | Substitution | p.Thr481Pro | Substitution | 2B | BCIE/EHK | Muramatsu et al, 2005 | | 8713 | c.1445A>G | Substitution | p.Tyr482Cys | Substitution | 2B | BCIE/EHK | Syder et al, 1994 | | 8730 | c.1457T>C | Substitution | p.Leu486Pro | Substitution | 2B | BCIE/EHK | Lee et al, 2002 | | 11728 | c.1465G>A | Substitution | p.Glu489Lys | Substitution | 2B | BCIE/EHK | Chassaing et al, 2006 | | 8706 | c.1468G>C | Substitution | p.Glu490Gln | Substitution | 2B | BCIE/EHK | Rothnagel et al, 1992 | | 9093 | c.1469A>G | Substitution | p.Glu490Gly | Substitution | 2B | BCIE/EHK | Shimomura et al, 2006 | | 9089 | c.1556_1556delG | Deletion | p.Gly519GlufsX94 | Frame shift | Tail | IHCM | Richardson et al, 2006 | | 9337 | c.1609_1610delGGinsA | Indel | p.Gly537IlefsX77 | Frame shift | Tail | IHCM | Sprecher et al, 2001 | | 9594 | c.1628delG | Deletion | p.Gly543ValfsX70 | Frame shift | Tail | SPPK | Whittock et al, 2002 | | 9596 | c.1751_1752insG | Insertion | p.Tyr587LeufsX67 | Frame shift | Tail | BCIE/EHK | Sprecher et al, 2003 |
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| ALLELIC VARIANTS |
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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 2006-11-13 15:44:00
* 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.
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