Human Intermediate Filament Database

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Human Intermediate Filament Database - K4

Intermediate Filament Details

Protein Name	keratin 4, K4
Gene Symbol	KRT4
Intermediate Filament Type	II
HGNC ID	6441
OMIM ID	*123940
NCBI Gene ID	3851

INTEGRATED SEQUENCE VIEW
Information last updated on 2009-07-21 17:05:47
* 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
Chromosome Strand -
Chromosome GI 51511728
Chromosome RefSeq ID NC_000012.9
51494602 : GACTTGCTCC GGTTTGCAGA GCTAGGAGGT GGCAGGCTGT GCGCTCAAAC : 51494553 -271 : GACTTGCTCC GGTTTGCAGA GCTAGGAGGT GGCAGGCTGT GCGCTCAAAC : -222 51494552 : TCAGGCTGTC TAACTCCACA TTCTGTGGGG TGAGAGGATG GGTGATGGGG : 51494503 -221 : TCAGGCTGTC TAACTCCACA TTCTGTGGGG TGAGAGGATG GGTGATGGGG : -172 51494502 : TGTCTTTTCT GGAGGAGGGA GGTGCTGTGA GCCTAGCGAG ATGGAGGTAC : 51494453 -171 : TGTCTTTTCT GGAGGAGGGA GGTGCTGTGA GCCTAGCGAG ATGGAGGTAC : -122 51494452 : AGTGGGTGTG GGCCTGGAGC GCTGGGCCCA GGCAGGGGCT TCTGATTAGG : 51494403 -121 : AGTGGGTGTG GGCCTGGAGC GCTGGGCCCA GGCAGGGGCT TCTGATTAGG : -72 51494402 : AAGCCCTGGG GCACCAGTTC AGGTTCTCCC AGAGAGTAGT GTGATGGGAT : 51494353 -71 : AAGCCCTGGG GCACCAGTTC AGGTTCTCCC AGAGAGTAGT GTGATGGGAT : -22 51494352 : CCAGTAACCT GTGCCCTCCA GATGACTTCT GTAGGTGTGT TTAGTGACAT : 51494303 -21 : CCAGTAACCT GTGCCCTCCA GATGACTTCT GTAGGTGTGT TTAGTGACAT : 29 1 : M T S V G V F S D M : 10 51494302 : GCTCAACGGG TGCGGGAAGG ATGGGCTTGT GCCAAGGGCC AAGCCCAGAG : 51494253 30 : GCTCAACGGG TGCGGGAAGG ATGGGCTTGT GCCAAGGGCC AAGCCCAGAG : 79 11 : L N G C G K D G L V P R A K P R : 26 51494252 : ATGTTTCAGA TTTTTCCCTT TATGCCCCTG CAACCAAGCC CTGCTGCTCC : 51494203 80 : ATGTTTCAGA TTTTTCCCTT TATGCCCCTG CAACCAAGCC CTGCTGCTCC : 129 27 : D V S D F S L Y A P A T K P C C S : 43 51494202 : AGGACATATA AGAGACGAAG GCTGAGGGCT CCAGCACTCA CCGGCCTGGG : 51494153 130 : AGGACATATA AGAGACGAAG GCTGAGGGCT CCAGCACTCA CCGGCCTGGG : 179 44 : R T Y K R R R L R A P A L T G L G : 60 51494152 : CCCTGTCACT TCTCTGATAG CTCCCAGCTC GCTCTCTGCA GCCATGATTG : 51494103 180 : CCCTGTCACT TCTCTGATAG CTCCCAGCTC GCTCTCTGCA GCCATGATTG : 229 61 : P V T S L I A P S S L S A A M I : 76 51494102 : CCAGACAGCA GTGTGTCCGA GGCGGGCCCC GGGGCTTCAG CTGTGGCTCG : 51494053 230 : CCAGACAGCA GTGTGTCCGA GGCGGGCCCC GGGGCTTCAG CTGTGGCTCG : 279 77 : A R Q Q C V R G G P R G F S C G S : 93 51494052 : GCCATTGTAG GCGGTGGCAA GAGAGGTGCC TTCAGCTCAG TCTCCATGTC : 51494003 280 : GCCATTGTAG GCGGTGGCAA GAGAGGTGCC TTCAGCTCAG TCTCCATGTC : 329 94 : A I V G G G K R G A F S S V S M S : 110 51494002 : TGGAGGTGCT GGCCGATGCT CTTCTGGGGG ATTTGGCAGC AGAAGCCTCT : 51493953 330 : TGGAGGTGCT GGCCGATGCT CTTCTGGGGG ATTTGGCAGC AGAAGCCTCT : 379 111 : G G A G R C S S G G F G S R S L : 126 51493952 : ACAACCTCAG GGGGAACAAA AGCATCTCCA TGAGTGTGGC TGGGTCACGA : 51493903 380 : ACAACCTCAG GGGGAACAAA AGCATCTCCA TGAGTGTGGC TGGGTCACGA : 429 127 : Y N L R G N K S I S M S V A G S R : 143 51493902 : CAAGGTGCCT GCTTTGGGGG TGCTGGAGGC TTTGGCACTG GTGGCTTTGG : 51493853 430 : CAAGGTGCCT GCTTTGGGGG TGCTGGAGGC TTTGGCACTG GTGGCTTTGG : 479 144 : Q G A C F G G A G G F G T G G F G : 160 51493852 : TGGTGGATTT GGGGGCTCCT TCAGTGGTAA GGGTGGCCCT GGCTTCCCCG : 51493803 480 : TGGTGGATTT GGGGGCTCCT TCAGTGGTAA GGGTGGCCCT GGCTTCCCCG : 529 161 : G G F G G S F S G K G G P G F P : 176 51493802 : TCTGCCCCGC TGGGGGAATT CAGGAGGTCA CCATCAACCA GAGCTTGCTC : 51493753 530 : TCTGCCCCGC TGGGGGAATT CAGGAGGTCA CCATCAACCA GAGCTTGCTC : 579 177 : V C P A G G I Q E V T I N Q S L L : 193 51493752 : ACCCCCCTCC ACGTGGAGAT TGACCCTGAG ATCCAGAAAG TCCGGACGGA : 51493703 580 : ACCCCCCTCC ACGTGGAGAT TGACCCTGAG ATCCAGAAAG TCCGGACGGA : 629 194 : T P L H V E I D P E I Q K V R T E : 210 VARIANTS : ii ddd : VARIANTS 51493702 : AGAGCGCGAA CAGATCAAGC TCCTCAACAA CAAGTTTGCC TCCTTCATCG : 51493653 630 : AGAGCGCGAA CAGATCAAGC TCCTCAACAA CAAGTTTGCC TCCTTCATCG : 679 211 : E R E Q I K L L N N K F A S F I : 226 VARIANTS : ii ii d : VARIANTS 51493652 : ACAAGGTGAG CTGTGTCCTC GGCTGGAGAG GGGCAGTTAG AAGAGAGGGG : 51493603 680 : ACAAG : 684 227 : D K : 228 51493602 : TCCTGAGTCC TGGGGTCTCA GACCTGAGCC TGCCACAGGT GCTGGGGAGA : 51493553 51493552 : CCACTGAACT TCCCTGGGCC CCAATTCTCC AGCTGTTGAA GGGGCATCAT : 51493503 51493502 : GACTTTGAGC CTTCCTTTTT GTCCCGTGGC TGGTGGGAAG GTGGGATGCT : 51493453 51493452 : CAAGGCAGTT AAGTGTTTGG AATTCCCTAG ACAGGCTGTG GGATACTGGA : 51493403 51493402 : CAAATCATTT GGCTTTTCTG GCTCTAGTCA TCCCAGCTAT AAAGGGGGTT : 51493353 51493352 : CATTATTTCT CTGCTTTTTC TCAGATTTTG GTTTTGAATA TAATGCAGTT : 51493303 51493302 : AACCCCATTA ATCACTTAAC AGTGGCCACT TCTGTTCTTA GAACAGAAGA : 51493253 51493252 : CAACTAAGCT GATTTTGCAA ATGAAAAAGG GACTGGCTCC AGTGGCAGAT : 51493203 51493202 : TCTAGGTCTC ACCAAGGCCT TGGAAATTTA CTTTTTTCAT TCCTTTGACT : 51493153 51493152 : GGACAACACT GCTCATGTCT GGGTCTGTTT GAAGAAAGGA GACAGGTCTC : 51493103 51493102 : TTTTCTTTTT GTAGCCCAAC TTCCTTTTTC ATGCAACGTC TAGAAGTTCA : 51493053 51493052 : AGTTCTTTAA GCTCAGTTAT GGTCATGCAT GATGGATGAT AGTGAGCAGT : 51493003 51493002 : GCAGCCCCAG AGAGCCGAGT CATCCAAAGA TTGATGACTG GGTGGATGAG : 51492953 51492952 : TGCCTCCCTT TGGTCCAGGT TGCCCTGGTT CACCAGGCAT CAAAGTCTTG : 51492903 51492902 : GGCAGCTTCG ACATATGGGG CAAGAATGAA CACTTTTGGA ATAGAATAAG : 51492853 51492852 : GTGCATATTT GTTCTTCTTG CTAGTTTGAA TAAACCCATA GTAACTTAAA : 51492803 51492802 : GAGGTTTTAC TGTGACTATA GGACATGCAG ATGTGATAGC AAAAACTCAG : 51492753 51492752 : GGCTCTTTGA TGCATCCTTG TCTCATCTCA TCTCATTTTA CCTTTTGGGT : 51492703 51492702 : TCAAAATGTG ATCGGTCTGC CTTACCTGCT TTCCTTTCAA TTCTGAGGCT : 51492653 51492652 : CATAACATGG AAATGTCATG CTAAGCTGCT GTCCTGGTTT GTCTGGCTAG : 51492603 51492602 : ATTTTTTCAT AGAGAGAGGG AAAGTTCAGG AAAGTCCTTT GCAGAATGGA : 51492553 51492552 : GTTTAGGTGA GACAATGCGT ACAGGGCCCT TGTTTTAAAT ATCTATACTC : 51492503 51492502 : AGTTGTTCAC AGGTTCACAG GGACACGCCA GATCCATTGA TAAGTAAGCT : 51492453 51492452 : TATTTAAAAA GTCTGTAGTG ACTTTGTCTT TCATTTGCCT TGGGTCAGGA : 51492403 51492402 : TCACTTTGAA TGCAAGAGCC TCCAGATTGT GATGTCTCTT AATTTTATTT : 51492353 51492352 : TGTTATTTCA TAGAAGTTTA ATGTTCTTTG GGGCTTTGGG TGCCTGCGGC : 51492303 51492302 : TAGGAAGTTG TTCTTGTTGC ACTGTTAGGC CCTGCTTCTC TGGCTGTGCT : 51492253 51492252 : CTATTCTCCA CAACCTATGT GACCCCTTGG TGCTATGGGC TCGAGAATGG : 51492203 51492202 : GGCCATCATG TCAACCCGAG TGAATGGTGC CCTGGAGATG CAACATAGTG : 51492153 51492152 : GCCCTACTTG GGTGGTTCTT GGGCCGTGTA GTTCCCTGGG ATTGACTGGG : 51492103 51492102 : TTGGTGTTGC CTTGGCTGGC CCTCCTGCCA CACTTCAGGC CCTCATCACT : 51492053 51492052 : TGGCTGGTGC CTTTATCAAC ACAGGTGCAG TTCTTAGAGC AACAGAATAA : 51492003 685 : GTGCAG TTCTTAGAGC AACAGAATAA : 710 229 : V Q F L E Q Q N K : 237 51492002 : GGTCCTGGAG ACCAAATGGA ACCTGCTCCA GCAGCAGACG ACCACCACCT : 51491953 711 : GGTCCTGGAG ACCAAATGGA ACCTGCTCCA GCAGCAGACG ACCACCACCT : 760 238 : V L E T K W N L L Q Q Q T T T T : 253 51491952 : CCAGCAAAAA CCTTGAGCCC CTCTTTGAGA CCTACCTCAG TGTCCTGAGG : 51491903 761 : CCAGCAAAAA CCTTGAGCCC CTCTTTGAGA CCTACCTCAG TGTCCTGAGG : 810 254 : S S K N L E P L F E T Y L S V L R : 270 51491902 : AAGCAGCTAG ATACCTTGGG CAATGACAAA GGGCGCCTGC AGTCTGAGCT : 51491853 811 : AAGCAGCTAG ATACCTTGGG CAATGACAAA GGGCGCCTGC AGTCTGAGCT : 860 271 : K Q L D T L G N D K G R L Q S E L : 287 51491852 : GAAGACCATG CAGGACAGCG TGGAGGACTT CAAGACTAAG TACATGGGGA : 51491803 861 : GAAGACCATG CAGGACAGCG TGGAGGACTT CAAGACTAA : 899 288 : K T M Q D S V E D F K T K : 300 51491802 : GGAAGGAGGG GACGCCATCT GACACATGTG CCCAGCCACA CCCAGGCTCC : 51491753 51491752 : CGGGGCTCTC TCCAGTGGCT TAGAATCTCA GGCTCTGAAG GCGTCTAGGA : 51491703 51491702 : AGGCCCTCTA GTCTGTTTTG CTACATCCAC ATAGTCACGT TTTCTCAGGG : 51491653 51491652 : TGAGGTCTGG TAACCACAGA TTTTTCCGAA AGGAAATTTA ATGATAGATT : 51491603 51491602 : CAGGGATTTG GGTCTGCCAT ATACGAACAA GATCAGAACC CAAATAGATG : 51491553 51491552 : AAAAGCAGTA TAGTATGATT AGAAGAATAC AGACTGTAGA GACAGATGGA : 51491503 51491502 : GGTGGTTTGC ATACTGAGTC CTCACTTACT AGCTGTGTGA CCTTGGGTAA : 51491453 51491452 : ATAGCTGAAC CTCTCTGAGC TTCAGTTTTA TTCATCTTTG AAATGGGGAT : 51491403 51491402 : AATATTCCTA CTTTATGGGT TGTGAGAATT AAATGGAATT AAATGAAATA : 51491353 51491352 : GAGAAAGCAT GTGGCATATT TCAGGACACA GAGTGAACAC TGAATACACA : 51491303 51491302 : GCACCTCTCA TTAAACTCAC TATGGGATAG GACTGACAAA ATAAATACCA : 51491253 51491252 : ACCCTGTCTC TCAATTCACT CACCCACCAA ACAAAGGGAA ATGGAGTGTG : 51491203 51491202 : CTGATGACAT TGCTGAGAAT TTAATCTGCC AAAATGGCCA AAAGGACAGC : 51491153 51491152 : CCTTTCAGGG ACATTAAATC AACTACATCA TTGCTGGGTT TTCTATCGAA : 51491103 51491102 : AACAGTCTCT TTAAAGTTTG GTTTTCATGT ATCTGAATAA ACCCTGGCCT : 51491053 51491052 : AAACGGGTAC TTCCTATATT CAATGAATAT AGGTTAAATG AATATCTGTA : 51491003 51491002 : TGAATATGGG AAATGCAACT AATTACGTGG ATATTTCCAA ATTTGTTTGG : 51490953 51490952 : AAATGCTTGA AAACAAGCAG CAGAGATCTG AGAAACACCA GCTCACTGTG : 51490903 51490902 : GGTTTTTGTC TTTTTCTCCC CGTGCCCACC CCCAGGTATG AAGAGGAGAT : 51490853 900 : GTATG AAGAGGAGAT : 914 301 : Y E E E I : 305 51490852 : CAACAAACGC ACAGCAGCCG AGAATGACTT TGTGGTCCTA AAGAAGGTAA : 51490803 915 : CAACAAACGC ACAGCAGCCG AGAATGACTT TGTGGTCCTA AAGAAG : 960 306 : N K R T A A E N D F V V L K K : 320 51490802 : GAGACGAAGG ATGGTAGGGA GTGCCTTCAG GGTGCCCCTT CCCTTGGGGA : 51490753 51490752 : GTGGTCTTTG GCTGAAGTCA TGGGTTTGGT CCATCTCTGC CTCATCCCTG : 51490703 51490702 : CTTCACTTGG AACTATCTAG ATCTATATAG TCAAGGAAAG TGGGTAACCA : 51490653 51490652 : AACCAGGTTC TAAGAAATTA AGGTTGGGAG GAAAGCCTAT TTGCTTTTTT : 51490603 51490602 : TTTTGAGATG GAGCTTCACT CTTTTTGCCC AGGCTGCAGT GCAATGGCGC : 51490553 51490552 : GATCTTGGGT CACTGCAAGC TCCACCTACT GGGTTCAAGC GATTCTCCTG : 51490503 51490502 : CCTCAGCCTC CCGAGTAGCT GGGATTACAG GCATGCACCA CCACGCCTGG : 51490453 51490452 : CTAATTTTGT ATTTTTAGTA GAGACAGGGT TTTTCCATGT TGGTCAGGCT : 51490403 51490402 : GGTCTCAAAC TCCTGACCTC AGGTCATCCG CCTGCCTCAG CCTCCCAAAG : 51490353 51490352 : TGCTGGGGTT ACAGTTGTGA GCCACCGCAC CCAGCTGATT TTTATTTTTA : 51490303 51490302 : TAAATTCATG GGGTACAAGT GTAATTTTGT TACGTGGATA GTTTGTGTTG : 51490253 51490252 : TGGTGAAGTC AGGGCTTTTA GAGTATCCAT TGCTGGGATA ACATACATTA : 51490203 51490202 : TATCCAATAA GTAATTTCTC ATTATCCAGC CCCTCCCAGC CCTCCCTTTT : 51490153 51490152 : TCAAGTCTCC ATTGTCTATC ATTCCATGCT CTATGTCCAC ATGTACACAT : 51490103 51490102 : GATTTAGCTC CCACTTATAA GTGAGGACAT GTGTTATTTG TCTTTCTGTG : 51490053 51490052 : CCTGAGTTGT TTCACTTAAG ATAATGGCCT CCAGTTCCAT CCACATTGCT : 51490003 51490002 : GCAAAAAGAC ATAATTTCAT TCTCTTTTTA TGGCTGAGTA GTATTCTATT : 51489953 51489952 : GTGTATATGT ATCATATTTT CTTTATCCAA TCATCTGTTG ATGGACACTT : 51489903 51489902 : AGGTTGATTT GGTATCTTTG CTATTGTGAA TTGTGCTGCG ATAAACATGA : 51489853 51489852 : GTGCAGGTAT CCTTTTGTTA CAATGATTTC TTTTCCTTTG AGTGGAATTC : 51489803 51489802 : CAGCACTGGG ATTGCTGGAT CCAATGGTAG TTCTATTTTT AGTTCTTTGA : 51489753 51489752 : GAGATCTCCA TACTGTTAGA ATAGCCTATT TGGATAATCA ACTTCCATGT : 51489703 51489702 : CTTCAGGTGG CTCTAGGGAA GAATATATAA AATAATTGGT CTCCCACCAG : 51489653 51489652 : CTCCCCTGCT GCTGAGTAGT CTTTCCTAAA TGCTGCTGAG AACACCTGTC : 51489603 51489602 : GGTGTCACTT AGTAACCCGT CCTCCTACTG GCATTCCTGC TCCTCATCTC : 51489553 51489552 : TTATCCTCCT TACTCCTCTG CAGGACGTGG ATGCTGCCTA CCTGAACAAG : 51489503 961 : GACGTGG ATGCTGCCTA CCTGAACAAG : 987 321 : D V D A A Y L N K : 329 51489502 : GTGGAGTTGG AGGCCAAGGT GGACAGTCTT AATGACGAGA TCAACTTCCT : 51489453 988 : GTGGAGTTGG AGGCCAAGGT GGACAGTCTT AATGACGAGA TCAACTTCCT : 1037 330 : V E L E A K V D S L N D E I N F L : 346 51489452 : GAAGGTCCTC TATGATGCGG TGAGGGCTCC ATCCTCCCCT CCATCCAGGG : 51489403 1038 : GAAGGTCCTC TATGATGCG : 1056 347 : K V L Y D A : 352 51489402 : AAAGGGAATC CCCCATCTGT GACGCTGCTG GTTGGGATTC ACAGTTTTTT : 51489353 51489352 : GAAAGGACTC CAGCTCCCTT ATTTTAGGGC AGTGGGTTCT CATCAAGGTC : 51489303 51489302 : ATGCATAGAA AGGTTTGAAG TGGGAAATTC AACTGGGAGA TTCTTAGAAC : 51489253 51489252 : CAGATGTGGT CTTGGTCTTA GACGGGGTGA TTAGATCTAA AGAGTGCTTG : 51489203 51489202 : GAATAGAATT CATTGCTGTC TAGCATTTTT TTTCTGGTGA AATGGATCCA : 51489153 51489152 : TTCCCTTCCC TTCCATTCCA ACACACCGGC ACTCACTGCA TTAGAGTGGC : 51489103 51489102 : TTATGGTTCC TGGGGACCAG TAAAGACTAG AAGCATTGCT CTTCCATCCT : 51489053 51489052 : GAACTGTCAC AACCACTTGA TTTCTCCTTA GAACTTTACC TGTCTCTCCC : 51489003 51489002 : CTTCCTACAC ATTGTGAATG CCAGCTCTGC TCCTACTTGA GCCTGTATCA : 51488953 51488952 : GGTCAGTGAA GGCTTTCCTG GGGGGGCTGA TGTGAGACAT TTGCCCTGCA : 51488903 51488902 : GGAGCTGTCC CAGATGCAGA CCCATGTCAG CGACACGTCC GTGGTCCTTT : 51488853 1057 : GAGCTGTCC CAGATGCAGA CCCATGTCAG CGACACGTCC GTGGTCCTTT : 1105 353 : E L S Q M Q T H V S D T S V V L : 368 51488852 : CCATGGACAA CAACCGCAAC CTGGACCTGG ACAGCATTAT TGCCGAGGTC : 51488803 1106 : CCATGGACAA CAACCGCAAC CTGGACCTGG ACAGCATTAT TGCCGAGGTC : 1155 369 : S M D N N R N L D L D S I I A E V : 385 51488802 : CGTGCCCAGT ACGAGGAGAT TGCCCAGAGG AGCAAGGCTG AGGCTGAAGC : 51488753 1156 : CGTGCCCAGT ACGAGGAGAT TGCCCAGAGG AGCAAGGCTG AGGCTGAAGC : 1205 386 : R A Q Y E E I A Q R S K A E A E A : 402 51488752 : CCTGTACCAG ACCAAGGTGG GTGGTATGGA TCTCTCAGGA GATGGGGCTG : 51488703 1206 : CCTGTACCAG ACCAAG : 1221 403 : L Y Q T K : 407 51488702 : GCTCTGGGGC TCTGCTTTTG ATGTCTGTGA ACAGGTGATC ATTAGCTCAA : 51488653 51488652 : GCCCAATAGA AGTCAGATAT GAACAGACTC TCCCAGGCAT CGTTGGTCCT : 51488603 51488602 : GGTCTGATTT GAAACTACTT GACATTTGGT GCTATTCTTG CCACCTGTGG : 51488553 51488552 : CAATTCTCAC TGAGTTCACT TGAGAATGGA CCCTACCCAA ATGCCCCTAA : 51488503 51488502 : CACCTGGTTC TCTGTGTCTT CTTGAGTCTT AGGTCCAGCA GCTCCAGATC : 51488453 1222 : GTCCAGCA GCTCCAGATC : 1239 408 : V Q Q L Q I : 413 51488452 : TCGGTTGACC AACATGGTGA CAACCTGAAG AACACCAAGA GTGAAATTGC : 51488403 1240 : TCGGTTGACC AACATGGTGA CAACCTGAAG AACACCAAGA GTGAAATTGC : 1289 414 : S V D Q H G D N L K N T K S E I A : 430 51488402 : AGAGCTCAAC AGGATGATCC AGAGGCTGCG GGCAGAGATC GAGAACATCA : 51488353 1290 : AGAGCTCAAC AGGATGATCC AGAGGCTGCG GGCAGAGATC GAGAACATCA : 1339 431 : E L N R M I Q R L R A E I E N I : 446 51488352 : AGAAGCAGGT GGGTGTCACT CCCTTCCAGA TGGAGCACAA GGCCAGGGGC : 51488303 1340 : AGAAGCAG : 1347 447 : K K Q : 449 51488302 : CTCAGGCAGA CATCTCCAGA GTGGACAAGC AGATAAAGCA TCAGGCCAGA : 51488253 51488252 : AGACCCTGAG CTTGTTGCTG GGAATTCATA GCTCTTTGTG CAAGGCATAC : 51488203 51488202 : CCAGATTTTT TCAGCAATAT CCTAGTTGGC ACACCATGAC GCTCCTGTGC : 51488153 51488152 : ATAGGTTTCT TGGCTCTTCT TCATGGGTTT TTGCTCATTT TTATTTAATC : 51488103 51488102 : AGTCTGGTGG AGGCATTGGT GGGCTATGGC TGGAGTGAAT GAGATGCATA : 51488053 51488052 : AGTCTCAGGG AAAGTGGGCA GAACAGATAG AATCTTGACA TCCTAACCCA : 51488003 51488002 : AGGAAAGCTG GACCAGGGGA GGGGACAGGT GTAGAGGCCT TGAAGGCAGG : 51487953 51487952 : GCACTGCTGA CCACCTATCT AATGCCTTTG TCAATAGTGC CAGACTCTTC : 51487903 1348 : TGC CAGACTCTTC : 1360 450 : C Q T L : 453 51487902 : AGGTATCCGT GGCTGATGCA GAGCAGCGAG GTGAGAATGC CCTTAAAGAT : 51487853 1361 : AGGTATCCGT GGCTGATGCA GAGCAGCGAG GTGAGAATGC CCTTAAAGAT : 1410 454 : Q V S V A D A E Q R G E N A L K D : 470 51487852 : GCCCACAGCA AGCGCGTAGA GCTGGAGGCT GCCCTGCAGC AGGCCAAGGA : 51487803 1411 : GCCCACAGCA AGCGCGTAGA GCTGGAGGCT GCCCTGCAGC AGGCCAAGGA : 1460 471 : A H S K R V E L E A A L Q Q A K E : 487 51487802 : GGAGCTGGCA CGAATGCTGC GTGAGTACCA GGAGCTCATG AGTGTGAAGC : 51487753 1461 : GGAGCTGGCA CGAATGCTGC GTGAGTACCA GGAGCTCATG AGTGTGAAGC : 1510 488 : E L A R M L R E Y Q E L M S V K : 503 VARIANTS : A A : VARIANTS 51487752 : TGGCCTTGGA CATCGAGATC GCCACCTACC GCAAACTGCT GGAGGGCGAG : 51487703 1511 : TGGCCTTGGA CATCGAGATC GCCACCTACC GCAAACTGCT GGAGGGCGAG : 1560 504 : L A L D I E I A T Y R K L L E G E : 520 VARIANTS : K K : VARIANTS 51487702 : GAGTACAGGT GAGGGGTTAG GCAGGGTGTG AACATGAGGG CCAGAGAGGT : 51487653 1561 : GAGTACAG : 1568 521 : E Y R : 523 51487652 : CCAGGGCCAT GAGCTTATTT ATGCCTCTGC CGGGCTGCAA GCATCAGTGT : 51487603 51487602 : TGTGCCGGTG CATTACGAAC CAGGACAGCT CAGCTAATAG GTTCACACTG : 51487553 51487552 : GGCCCTCAAA CTCAGAGGCT GCTCAAGGAT AAGAGAGGTG AGTGAGGCAT : 51487503 51487502 : GCTTATTGAA CAAAATTCTG TGCTCCCTGA GGCTCACCGC CTTTTCTTTC : 51487453 51487452 : CCCTACAGAA TGTCTGGAGA ATGCCAGAGT GCCGTGAGCA TCTGTAAGTA : 51487403 1569 : AA TGTCTGGAGA ATGCCAGAGT GCCGTGAGCA TCT : 1603 524 : M S G E C Q S A V S I : 534 51487402 : CCTTCCACGC CTGCTGTAGT TGTTCATTCA CCCGGGTCTT GCCAGACCCC : 51487353 51487352 : TGGGGTGCTG GCAGCATTGG AATAACTGTG TCTTTTGTGT CTTTTCTGCA : 51487303 51487302 : GCTGTGGTCA GCGGTAGCAC CAGCACTGGA GGCATCAGCG GAGGATTAGG : 51487253 1604 : CTGTGGTCA GCGGTAGCAC CAGCACTGGA GGCATCAGCG GAGGATTAGG : 1652 535 : S V V S G S T S T G G I S G G L G : 551 51487252 : AAGTGGCTCC GGGTTTGGCC TGAGTAGTGG CTTTGGCTCC GGCTCTGGAA : 51487203 1653 : AAGTGGCTCC GGGTTTGGCC TGAGTAGTGG CTTTGGCTCC GGCTCTGGAA : 1702 552 : S G S G F G L S S G F G S G S G : 567 51487202 : GTGGCTTTGG GTTTGGTGGC AGTGTCTCTG GCAGTTCCAG CAGCAAGATC : 51487153 1703 : GTGGCTTTGG GTTTGGTGGC AGTGTCTCTG GCAGTTCCAG CAGCAAGATC : 1752 568 : S G F G F G G S V S G S S S S K I : 584 51487152 : ATCTCTACCA CCACCCTGAA CAAGAGACGA TAGAGGAGAC GAGGTCCCTG : 51487103 1753 : ATCTCTACCA CCACCCTGAA CAAGAGACGA TAGAGGAGAC GAGGTCCCTG : *17 585 : I S T T T L N K R R : 594 51487102 : CAGCTCACTG TGTCCAGCTG GGCCCAGCAC TGGTGTCTCT GTGCTTCCTT : 51487053 *18 : CAGCTCACTG TGTCCAGCTG GGCCCAGCAC TGGTGTCTCT GTGCTTCCTT : *67 51487052 : CACTTCACCT CCATCCTCTG TCTCTGGGGC TCATCTTACT AGTATCCCCT : 51487003 *68 : CACTTCACCT CCATCCTCTG TCTCTGGGGC TCATCTTACT AGTATCCCCT : *117 51487002 : CCACTATCCC ATGGGCTCTC TCTGCCCCAG GATGATCTTC TGTGCTGGGA : 51486953 *118 : CCACTATCCC ATGGGCTCTC TCTGCCCCAG GATGATCTTC TGTGCTGGGA : *167 51486952 : CAGGGACTCT GCCTCTTGGA GTTTGGTAGC TACTTCTTGA TTTGGGCCTG : 51486903 *168 : CAGGGACTCT GCCTCTTGGA GTTTGGTAGC TACTTCTTGA TTTGGGCCTG : *217 51486902 : GTGACCCACC TGGAATGGGA AGGATGTCAG CTGACCTCTC ACCTCCCATG : 51486853 *218 : GTGACCCACC TGGAATGGGA AGGATGTCAG CTGACCTCTC ACCTCCCATG : *267 VARIANTS : G : VARIANTS 51486852 : GACAGAGAAG AAAATGACCA GGAGTGTCAT CTCCAGAATT ATTGGGGTCA : 51486803 *268 : GACAGAGAAG AAAATGACCA GGAGTGTCAT CTCCAGAATT ATTGGGGTCA : *317 51486802 : CATATGTCCC TTCCCAGTCC AATGCCATCT CCCACTAGAT CCTGTATTAT : 51486753 *318 : CATATGTCCC TTCCCAGTCC AATGCCATCT CCCACTAGAT CCTGTATTAT : *367 51486752 : CCATCTACAT CAGAACCAAA CTACTTCTCC AACACCCGGC AGCACTTGGC : 51486703 *368 : CCATCTACAT CAGAACCAAA CTACTTCTCC AACACCCGGC AGCACTTGGC : *417 51486702 : CCTGCAAGCT TAGGATGAGA ACCACTTAGT GTCCCATTCT ACTCCTCTCA : 51486653 *418 : CCTGCAAGCT TAGGATGAGA ACCACTTAGT GTCCCATTCT ACTCCTCTCA : *467 51486652 : TTCCCTCTTA TCCATCTGCA GGTGAATCTT CAATAAAATG CTTTTGTCAT : 51486603 *468 : TTCCCTCTTA TCCATCTGCA GGTGAATCTT CAATAAAATG CTTTTGTCAT : *517 51486602 : TCA : 51486600 *518 : TCA : *520
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mRNA SEQUENCE
Reference sequence last updated on 2009-07-21 17:05:47
RefSeq ID NM_002272.2
GI 109255248
Length 2576 nucleotides
Download File | Text
Sequence
Legend: Blue = CDS, Red = UTR
-271 GACTTGCTCC GGTTTGCAGA GCTAGGAGGT GGCAGGCTGT GCGCTCAAAC -222 -221 TCAGGCTGTC TAACTCCACA TTCTGTGGGG TGAGAGGATG GGTGATGGGG -172 -171 TGTCTTTTCT GGAGGAGGGA GGTGCTGTGA GCCTAGCGAG ATGGAGGTAC -122 -121 AGTGGGTGTG GGCCTGGAGC GCTGGGCCCA GGCAGGGGCT TCTGATTAGG -72 -71 AAGCCCTGGG GCACCAGTTC AGGTTCTCCC AGAGAGTAGT GTGATGGGAT -22 -21 CCAGTAACCT GTGCCCTCCA GATGACTTCT GTAGGTGTGT TTAGTGACAT 29 30 GCTCAACGGG TGCGGGAAGG ATGGGCTTGT GCCAAGGGCC AAGCCCAGAG 79 80 ATGTTTCAGA TTTTTCCCTT TATGCCCCTG CAACCAAGCC CTGCTGCTCC 129 130 AGGACATATA AGAGACGAAG GCTGAGGGCT CCAGCACTCA CCGGCCTGGG 179 180 CCCTGTCACT TCTCTGATAG CTCCCAGCTC GCTCTCTGCA GCCATGATTG 229 230 CCAGACAGCA GTGTGTCCGA GGCGGGCCCC GGGGCTTCAG CTGTGGCTCG 279 280 GCCATTGTAG GCGGTGGCAA GAGAGGTGCC TTCAGCTCAG TCTCCATGTC 329 330 TGGAGGTGCT GGCCGATGCT CTTCTGGGGG ATTTGGCAGC AGAAGCCTCT 379 380 ACAACCTCAG GGGGAACAAA AGCATCTCCA TGAGTGTGGC TGGGTCACGA 429 430 CAAGGTGCCT GCTTTGGGGG TGCTGGAGGC TTTGGCACTG GTGGCTTTGG 479 480 TGGTGGATTT GGGGGCTCCT TCAGTGGTAA GGGTGGCCCT GGCTTCCCCG 529 530 TCTGCCCCGC TGGGGGAATT CAGGAGGTCA CCATCAACCA GAGCTTGCTC 579 580 ACCCCCCTCC ACGTGGAGAT TGACCCTGAG ATCCAGAAAG TCCGGACGGA 629 630 AGAGCGCGAA CAGATCAAGC TCCTCAACAA CAAGTTTGCC TCCTTCATCG 679 680 ACAAGGTGCA GTTCTTAGAG CAACAGAATA AGGTCCTGGA GACCAAATGG 729 730 AACCTGCTCC AGCAGCAGAC GACCACCACC TCCAGCAAAA ACCTTGAGCC 779 780 CCTCTTTGAG ACCTACCTCA GTGTCCTGAG GAAGCAGCTA GATACCTTGG 829 830 GCAATGACAA AGGGCGCCTG CAGTCTGAGC TGAAGACCAT GCAGGACAGC 879 880 GTGGAGGACT TCAAGACTAA GTATGAAGAG GAGATCAACA AACGCACAGC 929 930 AGCCGAGAAT GACTTTGTGG TCCTAAAGAA GGACGTGGAT GCTGCCTACC 979 980 TGAACAAGGT GGAGTTGGAG GCCAAGGTGG ACAGTCTTAA TGACGAGATC 1029 1030 AACTTCCTGA AGGTCCTCTA TGATGCGGAG CTGTCCCAGA TGCAGACCCA 1079 1080 TGTCAGCGAC ACGTCCGTGG TCCTTTCCAT GGACAACAAC CGCAACCTGG 1129 1130 ACCTGGACAG CATTATTGCC GAGGTCCGTG CCCAGTACGA GGAGATTGCC 1179 1180 CAGAGGAGCA AGGCTGAGGC TGAAGCCCTG TACCAGACCA AGGTCCAGCA 1229 1230 GCTCCAGATC TCGGTTGACC AACATGGTGA CAACCTGAAG AACACCAAGA 1279 1280 GTGAAATTGC AGAGCTCAAC AGGATGATCC AGAGGCTGCG GGCAGAGATC 1329 1330 GAGAACATCA AGAAGCAGTG CCAGACTCTT CAGGTATCCG TGGCTGATGC 1379 1380 AGAGCAGCGA GGTGAGAATG CCCTTAAAGA TGCCCACAGC AAGCGCGTAG 1429 1430 AGCTGGAGGC TGCCCTGCAG CAGGCCAAGG AGGAGCTGGC ACGAATGCTG 1479 1480 CGTGAGTACC AGGAGCTCAT GAGTGTGAAG CTGGCCTTGG ACATCGAGAT 1529 1530 CGCCACCTAC CGCAAACTGC TGGAGGGCGA GGAGTACAGA ATGTCTGGAG 1579 1580 AATGCCAGAG TGCCGTGAGC ATCTCTGTGG TCAGCGGTAG CACCAGCACT 1629 1630 GGAGGCATCA GCGGAGGATT AGGAAGTGGC TCCGGGTTTG GCCTGAGTAG 1679 1680 TGGCTTTGGC TCCGGCTCTG GAAGTGGCTT TGGGTTTGGT GGCAGTGTCT 1729 1730 CTGGCAGTTC CAGCAGCAAG ATCATCTCTA CCACCACCCT GAACAAGAGA 1779 1780 CGATAGAGGA GACGAGGTCC CTGCAGCTCA CTGTGTCCAG CTGGGCCCAG *44 *45 CACTGGTGTC TCTGTGCTTC CTTCACTTCA CCTCCATCCT CTGTCTCTGG *94 *95 GGCTCATCTT ACTAGTATCC CCTCCACTAT CCCATGGGCT CTCTCTGCCC *144 *145 CAGGATGATC TTCTGTGCTG GGACAGGGAC TCTGCCTCTT GGAGTTTGGT *194 *195 AGCTACTTCT TGATTTGGGC CTGGTGACCC ACCTGGAATG GGAAGGATGT *244 *245 CAGCTGACCT CTCACCTCCC ATGGACAGAG AAGAAAATGA CCAGGAGTGT *294 *295 CATCTCCAGA ATTATTGGGG TCACATATGT CCCTTCCCAG TCCAATGCCA *344 *345 TCTCCCACTA GATCCTGTAT TATCCATCTA CATCAGAACC AAACTACTTC *394 *395 TCCAACACCC GGCAGCACTT GGCCCTGCAA GCTTAGGATG AGAACCACTT *444 *445 AGTGTCCCAT TCTACTCCTC TCATTCCCTC TTATCCATCT GCAGGTGAAT *494 *495 CTTCAATAAA ATGCTTTTGT CATTCA
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PROTEIN SEQUENCE AND DOMAIN INFORMATION
Reference sequence last updated on 2009-07-21 17:05:47
RefSeq ID NP_002263.2
GI 109255249
Isoelectric Point 6.5467
Molecular Weight 57285.1 Daltons
Length 594 amino acids
Download File | Text
Sequence
1 MTSVGVFSDM LNGCGKDGLV PRAKPRDVSD FSLYAPATKP CCSRTYKRRR 50 51 LRAPALTGLG PVTSLIAPSS LSAAMIARQQ CVRGGPRGFS CGSAIVGGGK 100 101 RGAFSSVSMS GGAGRCSSGG FGSRSLYNLR GNKSISMSVA GSRQGACFGG 150 151 AGGFGTGGFG GGFGGSFSGK GGPGFPVCPA GGIQEVTINQ SLLTPLHVEI 200 201 DPEIQKVRTE EREQIKLLNN KFASFIDKVQ FLEQQNKVLE TKWNLLQQQT 250 251 TTTSSKNLEP LFETYLSVLR KQLDTLGNDK GRLQSELKTM QDSVEDFKTK 300 301 YEEEINKRTA AENDFVVLKK DVDAAYLNKV ELEAKVDSLN DEINFLKVLY 350 351 DAELSQMQTH VSDTSVVLSM DNNRNLDLDS IIAEVRAQYE EIAQRSKAEA 400 401 EALYQTKVQQ LQISVDQHGD NLKNTKSEIA ELNRMIQRLR AEIENIKKQC 450 451 QTLQVSVADA EQRGENALKD AHSKRVELEA ALQQAKEELA RMLREYQELM 500 501 SVKLALDIEI ATYRKLLEGE EYRMSGECQS AVSISVVSGS TSTGGISGGL 550 551 GSGSGFGLSS GFGSGSGSGF GFGGSVSGSS SSKIISTTTL NKRR
Head L1 L12 L2 Tail
1A 1B 2A 2B
Domain Name Probable Starting Amino Acid Position Probable Ending Amino Acid Position
Head 1 211
1A 212 246
L1 247 258
1B 259 359
L12 360 376
2A 377 395
L2 396 403
2B 404 524
Tail 525 594
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MONOCLONAL ANTIBODIES
Information last updated on 2007-12-12 15:42:29
Clone Name Species Reported Specificity Epitope Reference
6B10 mouse K4 - van Muijen et al, 1986
FD11 mouse K4, K7 - Kovarík et al, 1988, Upasani et al, 2004
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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 20523.
Information last updated on 2007-08-17 12:27:24
Organism NCBI Gene ID mRNA Accession Protein Accession Taxonomy division
Gallus gallus 768882 XM_001231585.1 XP_001231586.1 Vertebrates
Rattus norvegicus 315323 NM_001008806.1 NP_001008806.1 Rodents
Mus musculus 16682 NM_008475.1 NP_032501.1 Rodents
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 2009-01-07 15:30:44
Click SEQUENCE VARIANTS to find individual mutations.
Disease Name Disease Abbreviation OMIM
White sponge nevus of Cannon WSN #193900
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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 2009-01-07 15:30:44

* 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
9370 c.638_639insACA Insertion p.Glu213_Gln214insGln Insertion 1A WSN Terrinoni et al, 2000
9369 c.657_659delCAA Deletion p.Asn220del Deletion 1A WSN Rugg et al, 1995
11295 c.657_659delCAA Deletion p.Asn220del Deletion 1A WSN Rugg et al, 1995
8637 c.1525G>A Substitution p.Glu509Lys Substitution 2B WSN Chao et al, 2003
13240 c.1558G>A Substitution p.Glu520Lys Substitution 2B WSN Zhang et al, 2008
13242 c.*269A>G Substitution p.= Silent Not affected WSN Zhang et al, 2008
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