Intermediate Filament Details

INTEGRATED SEQUENCE VIEW

Information last updated on 2009-07-21 16:58:31 * 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 Chromosome Strand + Chromosome GI 51511728 Chromosome RefSeq ID NC_000012.9 51629110 : TCCGGGGCGG GGGCGGGGCC TCACTCTGCG ATATAACTCG GGTCGCGCGG : 51629159 -115 : TCCGGGGCGG GGGCGGGGCC TCACTCTGCG ATATAACTCG GGTCGCGCGG : -66 51629160 : CTCGCGCAGG CCGCCACCGT CGTCCGCAAA GCCTGAGTCC TGTCCTTTCT : 51629209 -65 : CTCGCGCAGG CCGCCACCGT CGTCCGCAAA GCCTGAGTCC TGTCCTTTCT : -16 VARIANTS : T : VARIANTS 51629210 : CTCTCCCCGG ACAGCATGAG CTTCACCACT CGCTCCACCT TCTCCACCAA : 51629259 -15 : CTCTCCCCGG ACAGCATGAG CTTCACCACT CGCTCCACCT TCTCCACCAA : 35 1 : M S F T T R S T F S T N : 12 51629260 : CTACCGGTCC CTGGGCTCTG TCCAGGCGCC CAGCTACGGC GCCCGGCCGG : 51629309 36 : CTACCGGTCC CTGGGCTCTG TCCAGGCGCC CAGCTACGGC GCCCGGCCGG : 85 13 : Y R S L G S V Q A P S Y G A R P : 28 51629310 : TCAGCAGCGC GGCCAGCGTC TATGCAGGCG CTGGGGGCTC TGGTTCCCGG : 51629359 86 : TCAGCAGCGC GGCCAGCGTC TATGCAGGCG CTGGGGGCTC TGGTTCCCGG : 135 29 : V S S A A S V Y A G A G G S G S R : 45 51629360 : ATCTCCGTGT CCCGCTCCAC CAGCTTCAGG GGCGGCATGG GGTCCGGGGG : 51629409 136 : ATCTCCGTGT CCCGCTCCAC CAGCTTCAGG GGCGGCATGG GGTCCGGGGG : 185 46 : I S V S R S T S F R G G M G S G G : 62 VARIANTS : ddd dddddddddd dddddddddd d : VARIANTS 51629410 : CCTGGCCACC GGGATAGCCG GGGGTCTGGC AGGAATGGGA GGCATCCAGA : 51629459 186 : CCTGGCCACC GGGATAGCCG GGGGTCTGGC AGGAATGGGA GGCATCCAGA : 235 63 : L A T G I A G G L A G M G G I Q : 78 VARIANTS : dd dddddddddd dddddddddd : VARIANTS 51629460 : ACGAGAAGGA GACCATGCAA AGCCTGAACG ACCGCCTGGC CTCTTACCTG : 51629509 236 : ACGAGAAGGA GACCATGCAA AGCCTGAACG ACCGCCTGGC CTCTTACCTG : 285 79 : N E K E T M Q S L N D R L A S Y L : 95 VARIANTS : G : VARIANTS 51629510 : GACAGAGTGA GGAGCCTGGA GACCGAGAAC CGGAGGCTGG AGAGCAAAAT : 51629559 286 : GACAGAGTGA GGAGCCTGGA GACCGAGAAC CGGAGGCTGG AGAGCAAAAT : 335 96 : D R V R S L E T E N R R L E S K I : 112 VARIANTS : A : VARIANTS VARIANTS : T : VARIANTS 51629560 : CCGGGAGCAC TTGGAGAAGA AGGGACCCCA GGTCAGAGAC TGGAGCCATT : 51629609 336 : CCGGGAGCAC TTGGAGAAGA AGGGACCCCA GGTCAGAGAC TGGAGCCATT : 385 113 : R E H L E K K G P Q V R D W S H : 128 VARIANTS : L : VARIANTS 51629610 : ACTTCAAGAT CATCGAGGAC CTGAGGGCTC AGGTAAGGGG TAGGAGGGAC : 51629659 386 : ACTTCAAGAT CATCGAGGAC CTGAGGGCTC AG : 417 129 : Y F K I I E D L R A Q : 139 51629660 : CTCAACTCCC AGCCTTGTCT GACCCTCCAA TTATACACTC CTTTGCCTCT : 51629709 51629710 : TTCCGTCATT CCATAACCAC CCAACCCCTA CTCCACCGGG AGGGGGTTGG : 51629759 51629760 : GCATACCTGG ATTTCCATCC GCGCACCTAG CCACAGGGTC CCTAAGAGCA : 51629809 51629810 : GCAGCTAGGC ATGGGAGGGC TCTTTCCCAG GAGAGAGGGG GAAGGGGACA : 51629859 51629860 : GGGTTGAGAG CTTTACAGAG GAAGTGGACA GCATGGAGGG AGGTAAGGAA : 51629909 51629910 : AGGCCTGTAA AGAGGAGGAG ACACTGGCTC TGGCGGAATG GGGACTATTG : 51629959 51629960 : GAGGGTTAAG CGGATGTGGC TAAGGCTGAG TCATCTAGGA GTAAACAAGA : 51630009 51630010 : GGCCTTCCTT TGGGAGGAGC CAATCCAGGG TGTAGGGGGC CCAGAGTGAC : 51630059 51630060 : CAGGTGCACT AGGGAAAAAA TGCCAGGAGA GGGCCAGGAA GAGGACTTGT : 51630109 51630110 : TAGTAGCGAC TCACTTCTGG GCAGGCAGGC CAGCCAGCTA GCCAGCCTGC : 51630159 51630160 : TGAGGCTTCC CAAGAGGGGC AGAGTGCTGG GATCTGGGAA TCCAGGAAAG : 51630209 51630210 : GAGGGAATGG GGTGGGGCTA GATGAAAAGG GATAGGTGTC CAGGGAGAGC : 51630259 51630260 : CTCTGGCTAT TCCTGGGACC AGGAAGTTTT CACTAGGATA CATAACACTT : 51630309 51630310 : TTTACACACT CACCCCACCC ATCCCTGGCT TTCTATTCAT GGAACAACCT : 51630359 VARIANTS : G G : VARIANTS 51630360 : CTCTCTACAA TCCCTCCAGA TCTTCGCAAA TACTGTGGAC AATGCCCGCA : 51630409 418 : A TCTTCGCAAA TACTGTGGAC AATGCCCGCA : 448 140 : I F A N T V D N A R : 149 51630410 : TCGTTCTGCA GATTGACAAT GCCCGTCTTG CTGCTGATGA CTTTAGAGTC : 51630459 449 : TCGTTCTGCA GATTGACAAT GCCCGTCTTG CTGCTGATGA CTTTAGAGTC : 498 150 : I V L Q I D N A R L A A D D F R V : 166 VARIANTS : V : VARIANTS VARIANTS : A : VARIANTS 51630460 : AAGTAAGTTT GGGGGCTAGA GAGCTGGGGG TCCAGGGGTG GAGCTAAGAA : 51630509 499 : AA : 500 167 : K : 167 51630510 : GGATCTGCTC CCCAGGCTGG GTCAGTTAGG GGCTCACAGT GGGATCCTGT : 51630559 51630560 : TAGGTGTGGG TGGATGAGAG TCAGGGTCCA TCAGTGTATT CATTTAACTG : 51630609 51630610 : TTCATTTGTA TAACCCCGTT TAAGAATACT GTCCTCCAAG TGCCAAGAAT : 51630659 51630660 : GGTGCTCAGG GGATTACCAC CTAATTGCTG ACTCAAGTTG CTGGTTTGCA : 51630709 51630710 : ATGGGCACAG AACTTCTCTT AGTAGGTGGC ATGAGTTGAG AAGGTTCTGG : 51630759 51630760 : ATCAGAGATA GGGGCCCCTC TGATCACCTC CACTCCTATA GGTATGAGAC : 51630809 501 : GTATGAGAC : 509 168 : Y E T : 170 51630810 : AGAGCTGGCC ATGCGCCAGT CTGTGGAGAA CGACATCCAT GGGCTCCGCA : 51630859 510 : AGAGCTGGCC ATGCGCCAGT CTGTGGAGAA CGACATCCAT GGGCTCCGCA : 559 171 : E L A M R Q S V E N D I H G L R : 186 51630860 : AGGTCATTGA TGACACCAAT ATCACACGAC TGCAGCTGGA GACAGAGATC : 51630909 560 : AGGTCATTGA TGACACCAAT ATCACACGAC TGCAGCTGGA GACAGAGATC : 609 187 : K V I D D T N I T R L Q L E T E I : 203 51630910 : GAGGCTCTCA AGGAGGAGCT GCTCTTCATG AAGAAGAACC ACGAAGAGGC : 51630959 610 : GAGGCTCTCA AGGAGGAGCT GCTCTTCATG AAGAAGAACC ACGAAGAG : 657 204 : E A L K E E L L F M K K N H E E : 219 51630960 : AAGCAGGGGC CACTGGCCAG GCCAGGGATT GAGGGGCCAA GAGAAGTCTG : 51631009 51631010 : GGTCGGAGAA TAGACAAGAC AAACCAACTG CAAGTAGCCT TGCTAAGACG : 51631059 51631060 : TTTAGAAATA GCAGCCTGGG CTCTTCTTAA ATAAGACCGT TCTGATGAAG : 51631109 51631110 : AGCATTCTCA GGGGGTCGAG TACACCCTGG CTCACCTGAA TTACAGGTCA : 51631159 51631160 : AAATGATATG GGTTAGAAAA TGAGATGAGA ACAGAAGTAG AAGCAGCTAA : 51631209 51631210 : CACTAGGAGC TGGGGGTGAT AAAGGAATGA CAGCAGATGG AGTTGGCAGC : 51631259 51631260 : GCTTCCTAAA AGATGGTAGA AGGAGCAGGT TTGTGAAGGG GAGGGTGGAT : 51631309 51631310 : AAAGGAACAG GGTGAAGTTA CAGAGAAACC ATCAGTGAGT GGGTGGCATT : 51631359 51631360 : TCTACCCACT GGAGTAGAAA GGCCAGAACT GGCATTGCCC TGAGTGCAAG : 51631409 51631410 : CCAAGGGGTT CCTCCTGTCT CTTCTCCAAC TGTAGGCCTC CTAGAAGAGG : 51631459 51631460 : CAATCACAGA AGAAAGGCCT TGTTGGAGCT CTGACCCTGA ACCCTCCTCA : 51631509 51631510 : CTTTTGCCCC TGTCACCTTT AGGAAGTAAA AGGCCTACAA GCCCAGATTG : 51631559 658 : GAAGTAAA AGGCCTACAA GCCCAGATTG : 685 220 : E V K G L Q A Q I : 228 VARIANTS : C : VARIANTS 51631560 : CCAGCTCTGG GTTGACCGTG GAGGTAGATG CCCCCAAATC TCAGGACCTC : 51631609 686 : CCAGCTCTGG GTTGACCGTG GAGGTAGATG CCCCCAAATC TCAGGACCTC : 735 229 : A S S G L T V E V D A P K S Q D L : 245 VARIANTS : T : VARIANTS VARIANTS : A : VARIANTS 51631610 : GCCAAGATCA TGGCAGACAT CCGGGCCCAA TATGACGAGC TGGCTCGGAA : 51631659 736 : GCCAAGATCA TGGCAGACAT CCGGGCCCAA TATGACGAGC TGGCTCGGAA : 785 246 : A K I M A D I R A Q Y D E L A R K : 262 VARIANTS : Q : VARIANTS 51631660 : GAACCGAGAG GAGCTAGACA AGTACTGGTC TCAGCAGGTG CGTGAGGGGA : 51631709 786 : GAACCGAGAG GAGCTAGACA AGTACTGGTC TCAGCAG : 822 263 : N R E E L D K Y W S Q Q : 274 51631710 : GGGGATGGCT GCCAAGGTGT GGGAGGGAGG CAGACGGAAT GAGGGGCCTG : 51631759 VARIANTS : G : VARIANTS 51631760 : ATGGACTGTC CCCATCCTGC AGATTGAGGA GAGCACCACA GTGGTCACCA : 51631809 823 : ATTGAGGA GAGCACCACA GTGGTCACCA : 850 275 : I E E S T T V V T : 283 VARIANTS : G : VARIANTS VARIANTS : G T T : VARIANTS 51631810 : CACAGTCTGC TGAGGTTGGA GCTGCTGAGA CGACGCTCAC AGAGCTGAGA : 51631859 851 : CACAGTCTGC TGAGGTTGGA GCTGCTGAGA CGACGCTCAC AGAGCTGAGA : 900 284 : T Q S A E V G A A E T T L T E L R : 300 VARIANTS : R M I : VARIANTS 51631860 : CGTACAGTCC AGTCCTTGGA GATCGACCTG GACTCCATGA GAAATCTGGT : 51631909 901 : CGTACAGTCC AGTCCTTGGA GATCGACCTG GACTCCATGA GAAATCTG : 948 301 : R T V Q S L E I D L D S M R N L : 316 51631910 : GAGTGCCTTC ACATCACCTG CCCAGCTCCT CCTTCACTTG GCCTCAGACC : 51631959 51631960 : CAACCCTGTC TCAACCCAAA TCCTATCCCT CATATCATGA GTTCCTTTAG : 51632009 51632010 : CTCAGAAAGA GTCAGTTTCC TCTTTGCATT TCCCTCCACT CCTATCCCTT : 51632059 51632060 : ATCCCAGTAC TTGGCACATA GCAGGTGCCC AAAAAAGTTT CCAAAAGTGA : 51632109 51632110 : AGGGATGAGC AGTCCTGGGA CTCTGGGCTC ACCCTGCCCC TCCTCTCTGT : 51632159 51632160 : GCCCCTGCAG AAGGCCAGCT TGGAGAACAG CCTGAGGGAG GTGGAGGCCC : 51632209 949 : AAGGCCAGCT TGGAGAACAG CCTGAGGGAG GTGGAGGCCC : 988 317 : K A S L E N S L R E V E A : 329 VARIANTS : T A : VARIANTS 51632210 : GCTACGCCCT ACAGATGGAG CAGCTCAACG GGATCCTGCT GCACCTTGAG : 51632259 989 : GCTACGCCCT ACAGATGGAG CAGCTCAACG GGATCCTGCT GCACCTTGAG : 1038 330 : R Y A L Q M E Q L N G I L L H L E : 346 VARIANTS : R : VARIANTS 51632260 : TCAGAGCTGG CACAGACCCG GGCAGAGGGA CAGCGCCAGG CCCAGGAGTA : 51632309 1039 : TCAGAGCTGG CACAGACCCG GGCAGAGGGA CAGCGCCAGG CCCAGGAGTA : 1088 347 : S E L A Q T R A E G Q R Q A Q E Y : 363 51632310 : TGAGGCCCTG CTGAACATCA AGGTCAAGCT GGAGGCTGAG ATCGCCACCT : 51632359 1089 : TGAGGCCCTG CTGAACATCA AGGTCAAGCT GGAGGCTGAG ATCGCCACCT : 1138 364 : E A L L N I K V K L E A E I A T : 379 51632360 : ACCGCCGCCT GCTGGAAGAT GGCGAGGACT TTAAGTGAGT GGGGCTCTCC : 51632409 1139 : ACCGCCGCCT GCTGGAAGAT GGCGAGGACT TTAA : 1172 380 : Y R R L L E D G E D F N : 391 51632410 : TACCCACACG TGCTGGGATC AGGAGATCAC TTCTCCCCAA AGTCTGAGCT : 51632459 51632460 : TTTGGAAGCA CCCCATGTGT CTGTTCACTG GTATCCACTG AGCACTGGGC : 51632509 51632510 : CGTTGCTCCG TGGGTGCTCC TGTGTCTTCA AGGGAGTAAC AGTTACAGAG : 51632559 51632560 : GTCTCCCCCT TGAAGAAAGC AAACTAAGTA TTGTCCCTAG CTGTACTTAG : 51632609 51632610 : TATGCAAATG AAGTTTGGCC TTGAGTTTCC CTTTTCTGGA GGAAGAGGCT : 51632659 51632660 : GAGGGTGATT TGGAGATAAA GGTAGAGGTC AGGAGGCTTT TTCCCTCTAC : 51632709 51632710 : CTTTCTTGTC TCCCTTCTAC TCCACGGGGC TGTTTATAAC TTGGGCTTGG : 51632759 51632760 : TCTTCTGTTA CAGTCTTGGT GATGCCTTGG ACAGCAGCAA CTCCATGCAA : 51632809 1173 : TCTTGGT GATGCCTTGG ACAGCAGCAA CTCCATGCAA : 1209 392 : L G D A L D S S N S M Q : 403 51632810 : ACCATCCAAA AGACCACCAC CCGCCGGATA GTGGATGGCA AAGTGGTGTC : 51632859 1210 : ACCATCCAAA AGACCACCAC CCGCCGGATA GTGGATGGCA AAGTGGTGTC : 1259 404 : T I Q K T T T R R I V D G K V V S : 420 51632860 : TGAGACCAAT GACACCAAAG TTCTGAGGCA TTAAGCCAGC AGAAGCAGGG : 51632909 1260 : TGAGACCAAT GACACCAAAG TTCTGAGGCA TTAAGCCAGC AGAAGCAGGG : *16 421 : E T N D T K V L R H : 430 51632910 : TACCCTTTGG GGAGCAGGAG GCCAATAAAA AGTTCAGAGT TCA------- : 51632952 *17 : TACCCTTTGG GGAGCAGGAG GCCAATAAAA AGTTCAGAGT TCAAAAAAAA : *66 51632952 : ---------- - : 51632952 *67 : AAAAAAAAAA A : *77 Back to top

mRNA SEQUENCE

Reference sequence last updated on 2009-07-21 16:58:31 RefSeq ID NM_000224.2 GI 40354193 Length 1485 nucleotides Download File | Text Sequence Legend: Blue = CDS, Red = UTR -115 TCCGGGGCGG GGGCGGGGCC TCACTCTGCG ATATAACTCG GGTCGCGCGG -66 -65 CTCGCGCAGG CCGCCACCGT CGTCCGCAAA GCCTGAGTCC TGTCCTTTCT -16 -15 CTCTCCCCGG ACAGCATGAG CTTCACCACT CGCTCCACCT TCTCCACCAA 35 36 CTACCGGTCC CTGGGCTCTG TCCAGGCGCC CAGCTACGGC GCCCGGCCGG 85 86 TCAGCAGCGC GGCCAGCGTC TATGCAGGCG CTGGGGGCTC TGGTTCCCGG 135 136 ATCTCCGTGT CCCGCTCCAC CAGCTTCAGG GGCGGCATGG GGTCCGGGGG 185 186 CCTGGCCACC GGGATAGCCG GGGGTCTGGC AGGAATGGGA GGCATCCAGA 235 236 ACGAGAAGGA GACCATGCAA AGCCTGAACG ACCGCCTGGC CTCTTACCTG 285 286 GACAGAGTGA GGAGCCTGGA GACCGAGAAC CGGAGGCTGG AGAGCAAAAT 335 336 CCGGGAGCAC TTGGAGAAGA AGGGACCCCA GGTCAGAGAC TGGAGCCATT 385 386 ACTTCAAGAT CATCGAGGAC CTGAGGGCTC AGATCTTCGC AAATACTGTG 435 436 GACAATGCCC GCATCGTTCT GCAGATTGAC AATGCCCGTC TTGCTGCTGA 485 486 TGACTTTAGA GTCAAGTATG AGACAGAGCT GGCCATGCGC CAGTCTGTGG 535 536 AGAACGACAT CCATGGGCTC CGCAAGGTCA TTGATGACAC CAATATCACA 585 586 CGACTGCAGC TGGAGACAGA GATCGAGGCT CTCAAGGAGG AGCTGCTCTT 635 636 CATGAAGAAG AACCACGAAG AGGAAGTAAA AGGCCTACAA GCCCAGATTG 685 686 CCAGCTCTGG GTTGACCGTG GAGGTAGATG CCCCCAAATC TCAGGACCTC 735 736 GCCAAGATCA TGGCAGACAT CCGGGCCCAA TATGACGAGC TGGCTCGGAA 785 786 GAACCGAGAG GAGCTAGACA AGTACTGGTC TCAGCAGATT GAGGAGAGCA 835 836 CCACAGTGGT CACCACACAG TCTGCTGAGG TTGGAGCTGC TGAGACGACG 885 886 CTCACAGAGC TGAGACGTAC AGTCCAGTCC TTGGAGATCG ACCTGGACTC 935 936 CATGAGAAAT CTGAAGGCCA GCTTGGAGAA CAGCCTGAGG GAGGTGGAGG 985 986 CCCGCTACGC CCTACAGATG GAGCAGCTCA ACGGGATCCT GCTGCACCTT 1035 1036 GAGTCAGAGC TGGCACAGAC CCGGGCAGAG GGACAGCGCC AGGCCCAGGA 1085 1086 GTATGAGGCC CTGCTGAACA TCAAGGTCAA GCTGGAGGCT GAGATCGCCA 1135 1136 CCTACCGCCG CCTGCTGGAA GATGGCGAGG ACTTTAATCT TGGTGATGCC 1185 1186 TTGGACAGCA GCAACTCCAT GCAAACCATC CAAAAGACCA CCACCCGCCG 1235 1236 GATAGTGGAT GGCAAAGTGG TGTCTGAGAC CAATGACACC AAAGTTCTGA 1285 1286 GGCATTAAGC CAGCAGAAGC AGGGTACCCT TTGGGGAGCA GGAGGCCAAT *42 *43 AAAAAGTTCA GAGTTCAAAA AAAAAAAAAA AAAAA Back to top

PROTEIN SEQUENCE AND DOMAIN INFORMATION

Reference sequence last updated on 2009-07-21 16:58:31 RefSeq ID NP_000215.1 GI 4557888 Isoelectric Point 5.1114 Molecular Weight 48057.7 Daltons Length 430 amino acids Download File | Text Sequence 1 MSFTTRSTFS TNYRSLGSVQ APSYGARPVS SAASVYAGAG GSGSRISVSR 50 51 STSFRGGMGS GGLATGIAGG LAGMGGIQNE KETMQSLNDR LASYLDRVRS 100 101 LETENRRLES KIREHLEKKG PQVRDWSHYF KIIEDLRAQI FANTVDNARI 150 151 VLQIDNARLA ADDFRVKYET ELAMRQSVEN DIHGLRKVID DTNITRLQLE 200 201 TEIEALKEEL LFMKKNHEEE VKGLQAQIAS SGLTVEVDAP KSQDLAKIMA 250 251 DIRAQYDELA RKNREELDKY WSQQIEESTT VVTTQSAEVG AAETTLTELR 300 301 RTVQSLEIDL DSMRNLKASL ENSLREVEAR YALQMEQLNG ILLHLESELA 350 351 QTRAEGQRQA QEYEALLNIK VKLEAEIATY RRLLEDGEDF NLGDALDSSN 400 401 SMQTIQKTTT RRIVDGKVVS ETNDTKVLRH Head  L1 L12 L2  Tail 1A 1B 2A 2B Domain Name Probable Starting Amino Acid Position Probable Ending Amino Acid Position Head 1 80 1A 81 115 L1 116 125 1B 126 226 L12 227 243 2A 244 262 L2 263 270 2B 271 392 Tail 393 430 Back to top

MONOCLONAL ANTIBODIES

Information last updated on 2008-08-26 16:36:14 Clone Name Species Reported Specificity Epitope Reference 2C8 mouse K18 - Schaafsma et al, 1990 2H6 mouse K18 - Dixon et al, 1993 3F3 mouse K18 within L2/2A/L2/2B/tail domains Stigbrand et al, 1998 A45-B/B3 mouse K8, K18, K19 within 2B domain Karsten et al, 1983, Waseem et al, 2004 C-07 mouse K18 - Bártek et al, 1991 C-08 mouse K18 - Bártek et al, 1991, Vojtĕsek et al, 1989 C-23 mouse K8, K18 - Bártek et al, 1991, Stasková et al, 1991 C-51 mouse K8, K18 - Stasková et al, 1991, Lim et al, 2002 C-OU1 mouse K18 - Erb et al, 1992 C04 mouse K18 - Taylor-Papadimitriou et al, 1989 CCD001 mouse K18 within L2/2A/L2/2B/tail domains Stigbrand et al, 1998 CK1 mouse K18 - Debus et al, 1982 CK18.2 mouse K18 - Broers et al, 1986 CK2 mouse K18 - Debus et al, 1982 CK3 mouse K18 - Debus et al, 1982 CK4 mouse K18 - Debus et al, 1982 CK5 mouse K18 - Tölle et al, 1985 CY-90 mouse K18 - Fuchs et al, 1992 CYK MAb No. 1 mouse K18 within L2/2A/L2/2B/tail domains Stigbrand et al, 1998 CYK MAb No. 3 mouse K18 - Stigbrand et al, 1998 CYK MAb No. 4 mouse K18 within L2/2A/L2/2B/tail domains Stigbrand et al, 1998 CYK MAb No. 5 mouse K18 - Stigbrand et al, 1998 DA7 mouse K18 - Lauerová et al, 1988 DC10 mouse K18 - Lauerová et al, 1988 DE-K14 mouse K18 within L2/2A/L2/2B/tail domains Stigbrand et al, 1998, Vos et al, 1992 DE-K18 mouse K18 - Vos et al, 1992, Bonfrer et al, 1994 E3C4 mouse K18 within L2/2A/L2/2B/tail domains Stigbrand et al, 1998 KA1 mouse K5, K14, K18, K19 - Nagle et al, 1986, Jarasch et al, 1988, Upasani et al, 2004 KB 37 mouse K8, K18, K20 - Pelissier et al, 1990, Shezen et al, 1995 Ks 18.18 mouse [K8 + K18] - Franke et al, 1987 KS-B17.2 mouse K18 - Levy et al, 1988, Fuchs et al, 1992 Ks18.04 mouse K18 - Kasper et al, 1994 Ks18.174 mouse K18 - Fradette et al, 1995 KS18.27 mouse K18 chymotrypsin-resistant a-helical, central rod domain Moll et al, 1988 LE61 mouse K18 within 2B domain Lane, 1982, Waseem et al, 1996 LE62 mouse K18 - Lane, 1982 LE65 mouse K8, K18 within 1B, L12 and 2A domains Lane, 1982, Waseem et al, 1997 M9 mouse K18 - Henzen-Logmans et al, 1988 MO8 mouse K18 - Bartek et al, 1985, Upasani et al, 2004 NCL-5D3 mouse K8, K18 - Angus et al, 1987, Pérez et al, 1997 PKK1 mouse K7, K8, K17, K18, K19 - Holthöfer et al, 1984, Vigneswaran et al, 1990, Tatemoto et al, 1988 PKK3 mouse K18 - Hormia et al, 1987 RC7 108 mouse K18 - Stigbrand et al, 1998 RCK106 mouse K18 - Ramaekers et al, 1987 RGE53 mouse K18 - Henzen-Logmans et al, 1987 SA 30 mouse K18 within L2/2A/L2/2B/tail domains Stigbrand et al, 1998 SA 38 mouse K18 within L2/2A/L2/2B/tail domains Stigbrand et al, 1998 SK 60-61 mouse K8, K18 - Cintorino et al, 1988 UCD/AB 6.11 mouse K18 - Chan et al, 1988 UCD/PR-10.11 mouse K8, K18 - Chan et al, 1988 Back to top

RELATED SEQUENCES AND MULTIPLE SEQUENCE ALIGNMENT

The following table shows the orthologous sequences in other organisms as indicated by NCBI HomoloGene ID 55448. Information last updated on 2007-08-17 12:20:48 Organism NCBI Gene ID mRNA Accession Protein Accession Taxonomy division Rattus norvegicus 294853 NM_053976.1 NP_446428.1 Rodents Mus musculus 16668 NM_010664.1 NP_034794.1 Rodents Pan troglodytes 451923 XM_509083.2 XP_509083.2 Primates Canis familiaris 477601 XM_534794.2 XP_534794.1 Mammals 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 Back to top

ASSOCIATED DISEASES
Information last updated on 2009-10-22 12:25:05 Click SEQUENCE VARIANTS to find individual mutations. Disease Name Disease Abbreviation OMIM Acute fulminant hepatitis Cryptogenic cirrhosis #215600 Hepatic artery thrombosis Liver disease Primary biliary cirrhosis PBC %109720 Back to top

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 2009-10-22 12:25:05 * 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 13706 c.1232G>A Substitution p.Arg411His Substitution - PBC Zhong et al, 2009 11712 c.-15C>T Substitution p.= Silent Not affected - Strnad et al, 2006 9117 c.193_216del24 Deletion p.Thr65_Ala72del Deletion Head Liver disease Ku et al, 2005 8327 c.307A>G Substitution p.Thr103Ala Substitution 1A Acute fulminant hepatitis Ku et al, 2003 8326 c.383A>T Substitution p.His128Leu Substitution 1B Cryptogenic cirrhosis Ku et al, 1997 8328 c.383A>T Substitution p.His128Leu Substitution 1B Cryptogenic cirrhosis Ku et al, 2003 11713 c.418-4C>G Substitution p.= Silent Not affected - Strnad et al, 2006 9118 c.448A>G Substitution p.Ile150Val Substitution 1B Liver disease Ku et al, 2005 11714 c.500+38G>A Substitution p.= Silent Not affected - Strnad et al, 2006 11704 c.689G>C Substitution p.Ser230Thr Substitution L12 Liver disease Strnad et al, 2006 8329 c.782G>A Substitution p.Arg261Gln Substitution 2A PBC Ku et al, 2003 9119 c.827A>G Substitution p.Glu276Gly Substitution 2B Liver disease Ku et al, 2005 9120 c.854A>G Substitution p.Gln285Arg Substitution 2B Liver disease Ku et al, 2005 9288 c.884C>T Substitution p.Thr295Met Substitution 2B Liver disease Ku et al, 2005 9289 c.890C>T Substitution p.Thr297Ile Substitution 2B Liver disease Ku et al, 2005 8330 c.1018G>A Substitution p.Gly340Arg Substitution 2B Hepatic artery thrombosis Ku et al, 2003 Back to top

ALLELIC 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 2009-10-28 16:00:44 * 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 Allelic Variant DNA Allelic Variant Type Protein Allelic Variant Protein Allelic Variant Type Domain Population Studied Allele Frequency Reference 13807 c.689G>C Substitution p.Ser230Thr Substitution - Italian - Zhong et al, 2009 13808 c.689G>C Substitution p.Ser230Thr Substitution - Italian - Zhong et al, 2009 13810 c.500+38G>A Substitution p.= Silent - Italian - Zhong et al, 2009 13811 c.500+38G>A Substitution p.= Silent - Italian - Zhong et al, 2009 9220 c.418-4C>G Substitution p.= Silent Not affected European - Hesse et al, 2004 9365 c.689G>C Substitution p.Ser230Thr Substitution L12 - - Owens et al, 2004 8331 c.689G>C Substitution p.Ser230Thr Substitution L12 - - Ku et al, 2005 8332 c.993C>T Substitution p.= Silent Not affected mixed - Ku et al, 2005 Back to top