Human Intermediate Filament Database

Intermediate Filament Details

Protein Name	keratin 85, K85
Former Protein Name	Hb5
Gene Symbol	KRT85
Former Gene Symbol	KRTHB5
Intermediate Filament Type	II
HGNC ID	6462
OMIM ID	*602767
NCBI Gene ID	3891

INTEGRATED SEQUENCE VIEW
Information last updated on 2009-07-21 17:02:14
* 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
51047576 : AGCTCTCCCC ACCAATAAAA GGACCAGGGA GGATCAGAGA GAGCAGAAGG : 51047527 -120 : AGCTCTCCCC ACCAATAAAA GGACCAGGGA GGATCAGAGA GAGCAGAAGG : -71 51047526 : ATCCTGAGCC TCGCACTCTG CCGCCCGCAC CACCTTCCGC TGCCTCTCAG : 51047477 -70 : ATCCTGAGCC TCGCACTCTG CCGCCCGCAC CACCTTCCGC TGCCTCTCAG : -21 51047476 : ACTCTGCTCA GCCTCACACG ATGTCGTGCC GCTCCTACAG GATCAGCTCA : 51047427 -20 : ACTCTGCTCA GCCTCACACG ATGTCGTGCC GCTCCTACAG GATCAGCTCA : 30 1 : M S C R S Y R I S S : 10 51047426 : GGATGCGGGG TCACCAGGAA CTTCAGCTCC TGCTCAGCTG TGGCCCCCAA : 51047377 31 : GGATGCGGGG TCACCAGGAA CTTCAGCTCC TGCTCAGCTG TGGCCCCCAA : 80 11 : G C G V T R N F S S C S A V A P K : 27 51047376 : AACTGGCAAC CGCTGCTGCA TCAGCGCCGC CCCCTACCGA GGGGTGTCCT : 51047327 81 : AACTGGCAAC CGCTGCTGCA TCAGCGCCGC CCCCTACCGA GGGGTGTCCT : 130 28 : T G N R C C I S A A P Y R G V S : 43 51047326 : GCTACCGAGG GCTGACGGGC TTCGGCAGCC GCAGCCTCTG CAACCTGGGC : 51047277 131 : GCTACCGAGG GCTGACGGGC TTCGGCAGCC GCAGCCTCTG CAACCTGGGC : 180 44 : C Y R G L T G F G S R S L C N L G : 60 51047276 : TCCTGCGGGC CCCGGATAGC TGTAGGTGGC TTCCGAGCCG GCTCCTGCGG : 51047227 181 : TCCTGCGGGC CCCGGATAGC TGTAGGTGGC TTCCGAGCCG GCTCCTGCGG : 230 61 : S C G P R I A V G G F R A G S C G : 77 VARIANTS : A : VARIANTS 51047226 : ACGCAGCTTC GGCTACCGCT CCGGGGGCGT GTGCGGACCC AGCCCCCCAT : 51047177 231 : ACGCAGCTTC GGCTACCGCT CCGGGGGCGT GTGCGGACCC AGCCCCCCAT : 280 78 : R S F G Y R S G G V C G P S P P : 93 VARIANTS : H : VARIANTS 51047176 : GCATCACTAC CGTGTCGGTC AACGAGAGCC TCCTCACGCC CCTCAACCTG : 51047127 281 : GCATCACTAC CGTGTCGGTC AACGAGAGCC TCCTCACGCC CCTCAACCTG : 330 94 : C I T T V S V N E S L L T P L N L : 110 51047126 : GAGATCGACC CCAACGCACA GTGCGTGAAG CAGGAGGAGA AGGAGCAGAT : 51047077 331 : GAGATCGACC CCAACGCACA GTGCGTGAAG CAGGAGGAGA AGGAGCAGAT : 380 111 : E I D P N A Q C V K Q E E K E Q I : 127 51047076 : CAAGTCCCTC AACAGCAGGT TCGCGGCCTT CATCGACAAG GTGGGTGAGG : 51047027 381 : CAAGTCCCTC AACAGCAGGT TCGCGGCCTT CATCGACAAG : 420 128 : K S L N S R F A A F I D K : 140 51047026 : CCTGAGACGG CCCAGAGAAG CCTCCAGCCC TGTCCTCCCT TGGGGAGGTC : 51046977 51046976 : CCAGTCTGCT GAGGAGACAG GATGGCTGCC GGTTTGAGGC AGCAGAGGGA : 51046927 51046926 : ATGACGTGCA GACCCATACA GGTGGAAGGG TCAGTTTCCA TCACTTAACT : 51046877 51046876 : CCCGCAGCAT TTAACGAGGT CCAGGTGTGG TCTAGAAATT GAGCCTGTGA : 51046827 51046826 : TCCAAAGTGT GTGCATGTGT GTGTGTGTAC ATGTGTGTGT GTGTAGCGGT : 51046777 51046776 : GTGTGCGCCT GTACGTATGT TAGTGTGTGG TGTGTATATG TGTGTGTGTA : 51046727 51046726 : CATGTGTGTG AGCATATGTG TGTGTATGCA TGTGAGTGTG TACATGTGTG : 51046677 51046676 : TGAGCGTGTG TGTGTTTCTT GAGCCAAGAC GACATAGGAC TATCAGAACT : 51046627 51046626 : GTGTCTGAAA AACCAGACTG GGCAGCAGGT GCTGGAAGAG TGGGAGATAA : 51046577 51046576 : CGGGGAGACC AAAAGACCTT GTGGCTCCTA GCCAGGCAGC CCGTGAAGGG : 51046527 51046526 : GCTGGGGTAA TGCCCACAGC CATGCTGCCT CTCCCAAGTC CTTGCTGCAT : 51046477 51046476 : CACTCAGCAG TGTGAGACCC CAGGCAGGTT ACTCTGCTGA ATAACAGGAC : 51046427 51046426 : TGCCTCATCC ACCTGTGAGG AATTAATGAG TCCATGCATG AAACATGATG : 51046377 51046376 : GCAAATAGTC AGCACTCAAT ACATGTTAGC TGCTACTATC ATTATTTTCC : 51046327 51046326 : AAGGACAGTG GTAGGTGAGG AGGTGTGACA GCCAACCCAG GCCTGGCAGC : 51046277 51046276 : CCCTTCATGA GAGAGGGCTG AAATGCAGAC AGGGAGGTGG CCAGGCTGGT : 51046227 51046226 : AGGAGGAGGC CCCCTAATGC AGCCAGAGTG TGGAGAACGC TGCATAGCTG : 51046177 51046176 : TGAGGCTGCC TCCCAAGAAA GTTTTGTCGG GGGAGGCTGG GAGCCTCCTT : 51046127 51046126 : CACAGGCTCC TCCTGTGTCC ACAGGCCTCT AGCAGAGCAG AAGGAGCAGC : 51046077 51046076 : TTTGGGGGCC TAGGATCAGG GTTTGGGGGC AGAGGCAGTC ACCTTCACGT : 51046027 51046026 : TTTCACTCTT TCTTTAGTGA TCTGAGTCCA TCCTCACAGT GACGGGTTGG : 51045977 51045976 : AGTGGGTATC AGCGTCTCCA CTTATCAGAC AGCAACTTGG AGCTAAGGGG : 51045927 51045926 : GTGTATACGA GCATCTCAGA CATGCTGTAG GGGGAGGCAG AGCATGCCTA : 51045877 51045876 : TCTCAAGACT ATCGCTTACC ATGAGCTGGG CATTTCACAC CTTGGGGGTC : 51045827 51045826 : TCAATTTCCC CATGTGCAAC ATGGGGTAAG TAATATCTAC ATCCCACAGG : 51045777 51045776 : GCTGTGATAA TTGAATGGAA TGCATAGTTA GATGATATAG ACATAGACAC : 51045727 51045726 : AGACATTAGA CATGGATGTG TATATCTTAC CACAGGCCTT GGCACTAAGT : 51045677 51045676 : AGTAAATATT TAATAAGTGT TTGTTGCATA AATGAGCAAG TGAAGGGCAA : 51045627 51045626 : CTGGTAATTA TAATAATAGT TAAATAGACT GAGCATTTAC TACGTGTCAG : 51045577 51045576 : GGACTGTTCT AAGCACTTGA TATGCATTAA CTTGTTCAAG CTTCACAACA : 51045527 51045526 : GTGCTAAGAC AGACACTATT CGCTCCATTT TGGAAAGGAG AAAACTGAGC : 51045477 51045476 : CCCAGGAGGT TAAACAACTT GCTCTCTAAA GTATCAAAAC TGGGGCTCGA : 51045427 51045426 : AACAGACCTT TGGCTTTGAG TCAGACTGCT TTCCCTCACA CCCACAACTG : 51045377 51045376 : CCTCCCTGGG GGCCTGGGAA TGGGCCCCTT GAGCCGCAGA CACTCAGCTT : 51045327 51045326 : TATGGCTCAG CCCATTCAGC CAGCACCCGA GGGCAGAGAG ACTGTGGGGG : 51045277 51045276 : ACCAGGTGCC TCCCCCCAGG CTCCCTCTGA CTTCTTCTTT CCACCTGAAT : 51045227 51045226 : GGCAGGTGCG CTTCCTGGAG CAGCAGAACA AGCTGCTGGA GACCAAGTGG : 51045177 421 : GTGCG CTTCCTGGAG CAGCAGAACA AGCTGCTGGA GACCAAGTGG : 465 141 : V R F L E Q Q N K L L E T K W : 155 51045176 : CAGTTCTACC AGAACCAGCG CTGCTGCGAG AGCAACCTGG AGCCACTGTT : 51045127 466 : CAGTTCTACC AGAACCAGCG CTGCTGCGAG AGCAACCTGG AGCCACTGTT : 515 156 : Q F Y Q N Q R C C E S N L E P L F : 172 51045126 : CAGTGGCTAC ATCGAGACTC TGCGGCGGGA GGCCGAGTGC GTGGAGGCCG : 51045077 516 : CAGTGGCTAC ATCGAGACTC TGCGGCGGGA GGCCGAGTGC GTGGAGGCCG : 565 173 : S G Y I E T L R R E A E C V E A : 188 51045076 : ACAGCGGGAG GCTGGCCTCA GAGCTCAACC ATGTGCAGGA GGTGCTGGAG : 51045027 566 : ACAGCGGGAG GCTGGCCTCA GAGCTCAACC ATGTGCAGGA GGTGCTGGAG : 615 189 : D S G R L A S E L N H V Q E V L E : 205 51045026 : GGCTACAAGA AGAAGTGAGT GCAGCAAGCT GGGGGGACTC AGGGGAAACT : 51044977 616 : GGCTACAAGA AGAA : 629 206 : G Y K K K : 210 51044976 : CAGAGAGAAT GCTGGGAGGC TCTGCCCATA GCCCTCTTGC CACAGCTTCT : 51044927 51044926 : TTCAGATTCC TCTAGCAGGC TGCCTGGAAC CCAGAGCAGA TATCCAGTGG : 51044877 51044876 : GGCCTAGATT TCTTCAGATT CCTGGGATTC ACCTCTAAGA CTCCACCCCT : 51044827 51044826 : GTGAGCCTTA GAGCTACTTC TGGGGGAATG AAGAGAGGAA ATCCAGTGGA : 51044777 51044776 : ATTCTAGCAC TCTCTATGTC CCTGTCCTTC ACAGCTTACC TTTATGACAT : 51044727 51044726 : GGGCTCTGTG ATCTCCCTGC CAATGGAACC AGCTCTCTTG GGACCTAGGA : 51044677 51044676 : TGCACAGATG ATTTTAGACT TGGGGGAAGG AATGTGCATT CCTAACCCCA : 51044627 51044626 : TCTCAGAGGC AGAAGGACTG CGGCGGAATG AAGCCAGGCT AGGACAAGGG : 51044577 51044576 : CTGGCCCATG AATAATACAA AAAATAGATC CTGGAGGGGC CAAGACAACA : 51044527 51044526 : TCTGGAGGGG ATTAATCCCT TTTCAATCCC CGGAAGAACT TGCCCAGGAG : 51044477 51044476 : TTGGGATGGT ATTCAAGGTC CAGTTTCTCA GCTCCAGACC TTCTCTCTCC : 51044427 51044426 : CACACCCAGG TATGAAGAGG AGGTGGCCCT GAGAGCCACA GCAGAGAATG : 51044377 630 : G TATGAAGAGG AGGTGGCCCT GAGAGCCACA GCAGAGAATG : 670 211 : Y E E E V A L R A T A E N : 223 51044376 : AGTTTGTCGT TCTAAAGAAG GTGAGGGGCT GGTCATGGGG CAAGGAGGAG : 51044327 671 : AGTTTGTCGT TCTAAAGAAG : 690 224 : E F V V L K K : 230 51044326 : GGGGCCCATC AGTGCAAACT CCAGCGAGGG GCAGGGTCAC CATGCTGACC : 51044277 51044276 : AAAGGCACCT TTCTTTGGTC TCCTCTCACA TGCATGTCCC CTCCTCTTTG : 51044227 51044226 : TCCCACGGCC AGGACGTGGA CTGTGCCTAC CTGCGGAAAT CAGACCTGGA : 51044177 691 : GACGTGGA CTGTGCCTAC CTGCGGAAAT CAGACCTGGA : 728 231 : D V D C A Y L R K S D L E : 243 51044176 : GGCCAATGTG GAGGCCCTGG TGGAGGAGTC TAGCTTCCTG AGGCGCCTCT : 51044127 729 : GGCCAATGTG GAGGCCCTGG TGGAGGAGTC TAGCTTCCTG AGGCGCCTCT : 778 244 : A N V E A L V E E S S F L R R L : 259 51044126 : ATGAAGAGGT AAGGGGGCAA CTGCCACCCA GCCAGGGCAG GTGGAGGGGT : 51044077 779 : ATGAAGAG : 786 260 : Y E E : 262 51044076 : GTTTTGGAGA CAGGGGAGCA GTGAGGCAAG GGTGCATGTG TGTGCCTATG : 51044027 51044026 : TTTGCCAATG TGCAATGTAA GTGTGAAAAG AGCTTGCACA TACGTGCTGG : 51043977 51043976 : GGCCCACAAT ACAGAGGCCA TGTCCACGTT CATGTGTGAG AGGAGCATGG : 51043927 51043926 : GGTGTACATG TTCTTGGGCT GCTCTGTGTC TGTGACCTCT CTGCATGTTG : 51043877 51043876 : GTGTGCTGCC TGTGTGAGTG CCAGTCTACA GATGGGCAAG AGAGTGTGCA : 51043827 51043826 : TGTGTGGTGG GGGTCAGGAT GGCTTCGCAC ATAGGGCATG GTCCTCATTA : 51043777 51043776 : ATGGACTGAC TAATCACTCA TCCTAGCCTC CAAACCCCAG CTCCCCTGCT : 51043727 51043726 : GGGTGACTTT GGACCAGATC TTTTTCACCC TCTGGGCCTC AGTTTTCCCA : 51043677 51043676 : CTTTTAAGGC AGACACTGTT CCCAGATGGC CTCTACAGCC CCTTTCAGCT : 51043627 51043626 : TTGTTGTTTT TAAGGAGCCT GTGCATGAGT GAAGGTGGTA GGAGCAGGAG : 51043577 51043576 : TCATGTAACC TTCATGACCA GTGCCCGGTC TGGGAAGTGG ACATTGTCCC : 51043527 51043526 : CTGGGGTGGA TCACGTGGCC CAGATCAGGC ACTAGAAGCA AATGCACTGG : 51043477 51043476 : CTGTTGGCCC CACAGGAGAT CCGCGTTCTC CAAGCCCACA TCTCAGACAC : 51043427 787 : GAGAT CCGCGTTCTC CAAGCCCACA TCTCAGACAC : 821 263 : E I R V L Q A H I S D T : 274 51043426 : CTCGGTCATA GTCAAGATGG ACAACAGCCG AGACCTGAAC ATGGACTGCA : 51043377 822 : CTCGGTCATA GTCAAGATGG ACAACAGCCG AGACCTGAAC ATGGACTGCA : 871 275 : S V I V K M D N S R D L N M D C : 290 51043376 : TCATCGCTGA GATCAAGGCT CAGTATGACG ATGTTGCCAG CCGCAGCCGG : 51043327 872 : TCATCGCTGA GATCAAGGCT CAGTATGACG ATGTTGCCAG CCGCAGCCGG : 921 291 : I I A E I K A Q Y D D V A S R S R : 307 51043326 : GCCGAGGCTG AGTCCTGGTA CCGTAGCAAG GTGAGTGGCA CAGGACACCT : 51043277 922 : GCCGAGGCTG AGTCCTGGTA CCGTAGCAAG : 951 308 : A E A E S W Y R S K : 317 51043276 : GCCTGCTAAG CATGGCAGTG GGAGGGAAGT TAGGCATCTA TTAGAAAAGA : 51043227 51043226 : TTTCTCTTGC CTGGGGATTC TGACCCATGA GGACAGTATG AGAAAAGCCA : 51043177 51043176 : GTAGTTCTCA GGTTGAAGTG GCAGGGCAGG ACTGCCATGT GTGGTTGCAC : 51043127 51043126 : AGGCTGAGCA CCGTACAACC TGTATAGTCA TCTGTGGTGT CCTGAATGGA : 51043077 51043076 : TGGGGGGCCC CACCCTGAGC CTCATGAGCA TCTCTACTTC CTCCAGTGTG : 51043027 952 : TGTG : 955 318 : C : 318 51043026 : AGGAGATGAA GGCCACGGTG ATCAGGCATG GGGAGACCCT GCGCCGCACC : 51042977 956 : AGGAGATGAA GGCCACGGTG ATCAGGCATG GGGAGACCCT GCGCCGCACC : 1005 319 : E E M K A T V I R H G E T L R R T : 335 51042976 : AAGGAGGAGA TCAACGAGCT GAACCGCATG ATCCAGAGGC TGACGGCCGA : 51042927 1006 : AAGGAGGAGA TCAACGAGCT GAACCGCATG ATCCAGAGGC TGACGGCCGA : 1055 336 : K E E I N E L N R M I Q R L T A E : 352 51042926 : GATTGAGAAT GCCAAGTGCC AGGTGGGGTC TGTGGAGGAT TCAAATACGC : 51042877 1056 : GATTGAGAAT GCCAAGTGCC AG : 1077 353 : I E N A K C Q : 359 51042876 : AGCACAGGCA GGCTGCAGCA CCTGGCCCTA ATCAGGCTTC ACAGTGTGCC : 51042827 51042826 : CATGAGGAAG CAGGGACCCA GAGGGAAGGG AGGGGCTCTA TCATATTTCA : 51042777 51042776 : CAGCAATCAG ACCATGTCAC TGACTTCCAA AGGAGGATCC AGCCCCTTCC : 51042727 51042726 : TTGGCCACCC TGTGACCGCC ATCAAGGAGA GATGATGAAA AGCCCACCCA : 51042677 51042676 : TCTCCTCCCT CATATTCACA GCCCCATTAA CTACCTGGCC ACGGGCCAAC : 51042627 51042626 : CTTCTCTCCA GGACCCTCCT CTCCCTGCCC TGGCTCCATC AGCTTGGGTG : 51042577 51042576 : AGCCAAGCTG TGGCTTCTCT TTCTCATCCT GGCCCTTGTA TCTCCACCTG : 51042527 51042526 : ATAGCGTGCC AAGCTGGAGG CTGCTGTGGC TGAGGCAGAG CAGCAGGGTG : 51042477 1078 : CGTGCC AAGCTGGAGG CTGCTGTGGC TGAGGCAGAG CAGCAGGGTG : 1123 360 : R A K L E A A V A E A E Q Q G : 374 51042476 : AGGCGGCCCT CAGCGATGCC CGCTGCAAGC TGGCTGAGCT GGAGGGCGCC : 51042427 1124 : AGGCGGCCCT CAGCGATGCC CGCTGCAAGC TGGCTGAGCT GGAGGGCGCC : 1173 375 : E A A L S D A R C K L A E L E G A : 391 51042426 : CTGCAGAAGG CCAAGCAGGA CATGGCCTGC CTGCTCAAGG AGTACCAGGA : 51042377 1174 : CTGCAGAAGG CCAAGCAGGA CATGGCCTGC CTGCTCAAGG AGTACCAGGA : 1223 392 : L Q K A K Q D M A C L L K E Y Q E : 408 51042376 : GGTGATGAAC TCCAAGCTGG GCCTGGACAT CGAGATCGCC ACCTACAGGC : 51042327 1224 : GGTGATGAAC TCCAAGCTGG GCCTGGACAT CGAGATCGCC ACCTACAGGC : 1273 409 : V M N S K L G L D I E I A T Y R : 424 51042326 : GCCTGCTGGA GGGCGAGGAA CACAGGTGGG GCTAAGAGGA CTTTGTGGGG : 51042277 1274 : GCCTGCTGGA GGGCGAGGAA CACAG : 1298 425 : R L L E G E E H R : 433 51042276 : TTTCAGAGGT GGAGGCTGTG GTCCTCCAGG AGTGAATTTC CTTGAGCTGA : 51042227 51042226 : GTGTGAGCTA CAACTCTGGC CATGGCTAAT ACAATAGCTT CAATAATAAT : 51042177 51042176 : AATAATAATA ACTGAATGCT TCTGTGCTAG ACCTGTGCTA AGTGTTTATT : 51042127 51042126 : TTATAATCCT CACAATCCAA TAAGATAGAT ATGGTTTTTC CCATCTTTTT : 51042077 51042076 : ATCTTTAGAT AAAGAAGCAG GCTCAGAATT CAGTGCCTTT ATCATGGCTA : 51042027 51042026 : CGCAGTTAAT AAGCAGAAGA GCTGGGACCT GCACCCAAGT CTCATGCCTC : 51041977 51041976 : CCAAATCCGT CCTTGTTGAA TAGCTTCCTA CTGAAGCTGC TGCCACACAG : 51041927 51041926 : GCCTGTGTGT TATGATGATG ATGCACTTCT ATATGCATTT AGCTCTTCAT : 51041877 51041876 : CAACCACAAA GCCCCTTCAC ACCCTGGTGT ATCTGATTCA ACTCTCCTTC : 51041827 51041826 : CTGTGAGCTT GATTGGCACC ATCCAGGCTG GCCACCATCA CTCAAACTAG : 51041777 51041776 : GGGCACTGTT CATAATCTTA CCCACTGCTG CTGAAAATCA GAAAGCCTTG : 51041727 51041726 : TCTTCATGGT TAAAACCATC AAAGAAAGAA AGCATTTAAT GCAGATTTGA : 51041677 51041676 : GGGAGCCCTT CTTGCCTTTC AGGGGTAGAC TCTGTACACA GGATGACCCT : 51041627 51041626 : CTCTGTCCCC AAGCAACCAT CAGTCTCAAG GAATCCAACT CAGTGTCTGG : 51041577 51041576 : AACTAACAGA GTTTTCTTTC TCCATAGGCT GTGTGAAGGT GTGGGCTCTG : 51041527 1299 : GCT GTGTGAAGGT GTGGGCTCTG : 1321 434 : L C E G V G S : 440 51041526 : TGAATGTCTG TGAGTATCTG CCTGAAATTC TCCTGGAAAA ATGGCTTTTT : 51041477 1322 : TGAATGTCT : 1330 441 : V N V : 443 51041476 : TGATAGAAAA GCTGAACTCA TTGGCCTAAC CCATGGAGCC TCGAGTGTTC : 51041427 51041426 : CCCCAACTGT TTCACCCTCC CCTGGCTCCT CAGTGGGGGC CATGACAGGT : 51041377 51041376 : GTTAGAGAAA GCTGAGCTGA GTGCTCTTCG CAAGTGTTGA CAGTGAGCTA : 51041327 51041326 : TAGGCCATGG ACCTGTGGCC TGGCAGCTTT GCTCCCCGGG GTCCAGGGGT : 51041277 51041276 : CCTCACTTCC TTCCTGCCCC AGTTCCCTAG ATGGGCTGTG CATCTCAGGG : 51041227 51041226 : ACAGGGCCTG CATTGTTGAC CACCAATTCC TTGGAGAGGG AGGCAGCTCC : 51041177 51041176 : TGCAGTGCCC TGGGGCCTGT TGTAGGGTGG GTGAGATTGC AGGGAGCTGC : 51041127 51041126 : TCACCCCTCC ATGTCTCCTC TCTCCACAGG TGTCAGCAGC TCCCGTGGTG : 51041077 1331 : G TGTCAGCAGC TCCCGTGGTG : 1351 444 : C V S S S R G : 450 51041076 : GAGTCTCCTG TGGGGGCCTC TCCTACAGCA CCACCCCAGG GCGCCAGATC : 51041027 1352 : GAGTCTCCTG TGGGGGCCTC TCCTACAGCA CCACCCCAGG GCGCCAGATC : 1401 451 : G V S C G G L S Y S T T P G R Q I : 467 51041026 : ACTTCTGGCC CCTCAGCCAT AGGCGGCAGC ATCACGGTGG TGGCCCCTGA : 51040977 1402 : ACTTCTGGCC CCTCAGCCAT AGGCGGCAGC ATCACGGTGG TGGCCCCTGA : 1451 468 : T S G P S A I G G S I T V V A P D : 484 51040976 : CTCCTGTGCC CCCTGCCAGC CTCGTTCCTC CAGCTTCAGC TGCGGGAGTA : 51040927 1452 : CTCCTGTGCC CCCTGCCAGC CTCGTTCCTC CAGCTTCAGC TGCGGGAGTA : 1501 485 : S C A P C Q P R S S S F S C G S : 500 51040926 : GCCGGTCGGT CCGCTTTGCC TAGTAGAGTC ATGGAGCCAG GGCTTCCTGC : 51040877 1502 : GCCGGTCGGT CCGCTTTGCC TAGTAGAGTC ATGGAGCCAG GGCTTCCTGC : *27 501 : S R S V R F A : 507 51040876 : CAAGCACCTG CCTGCCTGCA TCACTGCACT GAATGGCATG TGAATGGAAA : 51040827 *28 : CAAGCACCTG CCTGCCTGCA TCACTGCACT GAATGGCATG TGAATGGAAA : *77 51040826 : ATGTGTGCTT GCTTCCAGAA TCTTCTGGAT GTTCCTACAG AGGGAAAGAC : 51040777 *78 : ATGTGTGCTT GCTTCCAGAA TCTTCTGGAT GTTCCTACAG AGGGAAAGAC : *127 51040776 : CTACAGAGGG AAAGACCCTC GGGCCGCTCC CCTGCGCCTT TTCATGCTAG : 51040727 *128 : CTACAGAGGG AAAGACCCTC GGGCCGCTCC CCTGCGCCTT TTCATGCTAG : *177 51040726 : GGAGATGCAT CCTAGTTGTC CTCCTGGCAG CTGTTTTCAG AGGCATTCCC : 51040677 *178 : GGAGATGCAT CCTAGTTGTC CTCCTGGCAG CTGTTTTCAG AGGCATTCCC : *227 51040676 : AGCCCTTCAC TTAACTCCTA CTTAGCTCCA AAATACCTGT ATCCAATTTG : 51040627 *228 : AGCCCTTCAC TTAACTCCTA CTTAGCTCCA AAATACCTGT ATCCAATTTG : *277 51040626 : TATTATTCCC CCAGCTCTCA GGGACAAGAC CAGTCCCCCA GCGTGGTGGT : 51040577 *278 : TATTATTCCC CCAGCTCTCA GGGACAAGAC CAGTCCCCCA GCGTGGTGGT : *327 51040576 : CAGCACGGAA GCTCCACCTT CTGGGTGGAG GCGCCATCCT AACCATCCAG : 51040527 *328 : CAGCACGGAA GCTCCACCTT CTGGGTGGAG GCGCCATCCT AACCATCCAG : *377 51040526 : CCAGGCCACC CACAACCCGA GAATCAGGGA GAAAGTCCCT CCCCAGCAGC : 51040477 *378 : CCAGGCCACC CACAACCCGA GAATCAGGGA GAAAGTCCCT CCCCAGCAGC : *427 51040476 : CCCCTCCTCC TGGCTGGGAA GAATGGTCCC CCAGCAAGCA CTTGCCTGTT : 51040427 *428 : CCCCTCCTCC TGGCTGGGAA GAATGGTCCC CCAGCAAGCA CTTGCCTGTT : *477 51040426 : CATTCCTGTT CATGTTTTGC TTCTCTCTCA GACTGCCTTC CTGCTTCTGG : 51040377 *478 : CATTCCTGTT CATGTTTTGC TTCTCTCTCA GACTGCCTTC CTGCTTCTGG : *527 51040376 : GCTAACCTGT TCCAGCCAGG CTCCTCATGT GACCTCGCAG TTGAGAAGCC : 51040327 *528 : GCTAACCTGT TCCAGCCAGG CTCCTCATGT GACCTCGCAG TTGAGAAGCC : *577 51040326 : CATTATCGTG GGGCATCCTT TTGCCTACAG CCCCTGGTTA GGGCACTTTG : 51040277 *578 : CATTATCGTG GGGCATCCTT TTGCCTACAG CCCCTGGTTA GGGCACTTTG : *627 51040276 : GACAGGTCTT GCTATTCAGT GAACCTTTGT ACATTTCAAA GAAGACTCCA : 51040227 *628 : GACAGGTCTT GCTATTCAGT GAACCTTTGT ACATTTCAAA GAAGACTCCA : *677 51040226 : TGGCTGCTCC AGATGCCCCC TTGCTGGGTG CAGGTGGGGA CTGTCCAATG : 51040177 *678 : TGGCTGCTCC AGATGCCCCC TTGCTGGGTG CAGGTGGGGA CTGTCCAATG : *727 51040176 : CAGAGCTGGC GGGACAGAGA GTTAAGCCAC TTCCTGGGTC TCCTTCTTGT : 51040127 *728 : CAGAGCTGGC GGGACAGAGA GTTAAGCCAC TTCCTGGGTC TCCTTCTTGT : *777 51040126 : GACTGTCTAT GGGTGCATTG CCTTCTGGGT TGTCTCGATC TGTGTTTCAA : 51040077 *778 : GACTGTCTAT GGGTGCATTG CCTTCTGGGT TGTCTCGATC TGTGTTTCAA : *827 51040076 : TAAATGCCGC TGCAATGCAA : 51040057 *828 : TAAATGCCGC TGCAATGCAA : *847
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mRNA SEQUENCE
Reference sequence last updated on 2009-07-21 17:02:14
RefSeq ID NM_002283.3
GI 110611241
Length 2491 nucleotides
Download File | Text
Sequence
Legend: Blue = CDS, Red = UTR
-120 AGCTCTCCCC ACCAATAAAA GGACCAGGGA GGATCAGAGA GAGCAGAAGG -71 -70 ATCCTGAGCC TCGCACTCTG CCGCCCGCAC CACCTTCCGC TGCCTCTCAG -21 -20 ACTCTGCTCA GCCTCACACG ATGTCGTGCC GCTCCTACAG GATCAGCTCA 30 31 GGATGCGGGG TCACCAGGAA CTTCAGCTCC TGCTCAGCTG TGGCCCCCAA 80 81 AACTGGCAAC CGCTGCTGCA TCAGCGCCGC CCCCTACCGA GGGGTGTCCT 130 131 GCTACCGAGG GCTGACGGGC TTCGGCAGCC GCAGCCTCTG CAACCTGGGC 180 181 TCCTGCGGGC CCCGGATAGC TGTAGGTGGC TTCCGAGCCG GCTCCTGCGG 230 231 ACGCAGCTTC GGCTACCGCT CCGGGGGCGT GTGCGGACCC AGCCCCCCAT 280 281 GCATCACTAC CGTGTCGGTC AACGAGAGCC TCCTCACGCC CCTCAACCTG 330 331 GAGATCGACC CCAACGCACA GTGCGTGAAG CAGGAGGAGA AGGAGCAGAT 380 381 CAAGTCCCTC AACAGCAGGT TCGCGGCCTT CATCGACAAG GTGCGCTTCC 430 431 TGGAGCAGCA GAACAAGCTG CTGGAGACCA AGTGGCAGTT CTACCAGAAC 480 481 CAGCGCTGCT GCGAGAGCAA CCTGGAGCCA CTGTTCAGTG GCTACATCGA 530 531 GACTCTGCGG CGGGAGGCCG AGTGCGTGGA GGCCGACAGC GGGAGGCTGG 580 581 CCTCAGAGCT CAACCATGTG CAGGAGGTGC TGGAGGGCTA CAAGAAGAAG 630 631 TATGAAGAGG AGGTGGCCCT GAGAGCCACA GCAGAGAATG AGTTTGTCGT 680 681 TCTAAAGAAG GACGTGGACT GTGCCTACCT GCGGAAATCA GACCTGGAGG 730 731 CCAATGTGGA GGCCCTGGTG GAGGAGTCTA GCTTCCTGAG GCGCCTCTAT 780 781 GAAGAGGAGA TCCGCGTTCT CCAAGCCCAC ATCTCAGACA CCTCGGTCAT 830 831 AGTCAAGATG GACAACAGCC GAGACCTGAA CATGGACTGC ATCATCGCTG 880 881 AGATCAAGGC TCAGTATGAC GATGTTGCCA GCCGCAGCCG GGCCGAGGCT 930 931 GAGTCCTGGT ACCGTAGCAA GTGTGAGGAG ATGAAGGCCA CGGTGATCAG 980 981 GCATGGGGAG ACCCTGCGCC GCACCAAGGA GGAGATCAAC GAGCTGAACC 1030 1031 GCATGATCCA GAGGCTGACG GCCGAGATTG AGAATGCCAA GTGCCAGCGT 1080 1081 GCCAAGCTGG AGGCTGCTGT GGCTGAGGCA GAGCAGCAGG GTGAGGCGGC 1130 1131 CCTCAGCGAT GCCCGCTGCA AGCTGGCTGA GCTGGAGGGC GCCCTGCAGA 1180 1181 AGGCCAAGCA GGACATGGCC TGCCTGCTCA AGGAGTACCA GGAGGTGATG 1230 1231 AACTCCAAGC TGGGCCTGGA CATCGAGATC GCCACCTACA GGCGCCTGCT 1280 1281 GGAGGGCGAG GAACACAGGC TGTGTGAAGG TGTGGGCTCT GTGAATGTCT 1330 1331 GTGTCAGCAG CTCCCGTGGT GGAGTCTCCT GTGGGGGCCT CTCCTACAGC 1380 1381 ACCACCCCAG GGCGCCAGAT CACTTCTGGC CCCTCAGCCA TAGGCGGCAG 1430 1431 CATCACGGTG GTGGCCCCTG ACTCCTGTGC CCCCTGCCAG CCTCGTTCCT 1480 1481 CCAGCTTCAG CTGCGGGAGT AGCCGGTCGG TCCGCTTTGC CTAGTAGAGT *6 *7 CATGGAGCCA GGGCTTCCTG CCAAGCACCT GCCTGCCTGC ATCACTGCAC *56 *57 TGAATGGCAT GTGAATGGAA AATGTGTGCT TGCTTCCAGA ATCTTCTGGA *106 *107 TGTTCCTACA GAGGGAAAGA CCTACAGAGG GAAAGACCCT CGGGCCGCTC *156 *157 CCCTGCGCCT TTTCATGCTA GGGAGATGCA TCCTAGTTGT CCTCCTGGCA *206 *207 GCTGTTTTCA GAGGCATTCC CAGCCCTTCA CTTAACTCCT ACTTAGCTCC *256 *257 AAAATACCTG TATCCAATTT GTATTATTCC CCCAGCTCTC AGGGACAAGA *306 *307 CCAGTCCCCC AGCGTGGTGG TCAGCACGGA AGCTCCACCT TCTGGGTGGA *356 *357 GGCGCCATCC TAACCATCCA GCCAGGCCAC CCACAACCCG AGAATCAGGG *406 *407 AGAAAGTCCC TCCCCAGCAG CCCCCTCCTC CTGGCTGGGA AGAATGGTCC *456 *457 CCCAGCAAGC ACTTGCCTGT TCATTCCTGT TCATGTTTTG CTTCTCTCTC *506 *507 AGACTGCCTT CCTGCTTCTG GGCTAACCTG TTCCAGCCAG GCTCCTCATG *556 *557 TGACCTCGCA GTTGAGAAGC CCATTATCGT GGGGCATCCT TTTGCCTACA *606 *607 GCCCCTGGTT AGGGCACTTT GGACAGGTCT TGCTATTCAG TGAACCTTTG *656 *657 TACATTTCAA AGAAGACTCC ATGGCTGCTC CAGATGCCCC CTTGCTGGGT *706 *707 GCAGGTGGGG ACTGTCCAAT GCAGAGCTGG CGGGACAGAG AGTTAAGCCA *756 *757 CTTCCTGGGT CTCCTTCTTG TGACTGTCTA TGGGTGCATT GCCTTCTGGG *806 *807 TTGTCTCGAT CTGTGTTTCA ATAAATGCCG CTGCAATGCA A
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PROTEIN SEQUENCE AND DOMAIN INFORMATION
Reference sequence last updated on 2009-07-21 17:02:14
RefSeq ID NP_002274.1
GI 4504935
Isoelectric Point 6.4906
Molecular Weight 55802 Daltons
Length 507 amino acids
Download File | Text
Sequence
1 MSCRSYRISS GCGVTRNFSS CSAVAPKTGN RCCISAAPYR GVSCYRGLTG 50 51 FGSRSLCNLG SCGPRIAVGG FRAGSCGRSF GYRSGGVCGP SPPCITTVSV 100 101 NESLLTPLNL EIDPNAQCVK QEEKEQIKSL NSRFAAFIDK VRFLEQQNKL 150 151 LETKWQFYQN QRCCESNLEP LFSGYIETLR REAECVEADS GRLASELNHV 200 201 QEVLEGYKKK YEEEVALRAT AENEFVVLKK DVDCAYLRKS DLEANVEALV 250 251 EESSFLRRLY EEEIRVLQAH ISDTSVIVKM DNSRDLNMDC IIAEIKAQYD 300 301 DVASRSRAEA ESWYRSKCEE MKATVIRHGE TLRRTKEEIN ELNRMIQRLT 350 351 AEIENAKCQR AKLEAAVAEA EQQGEAALSD ARCKLAELEG ALQKAKQDMA 400 401 CLLKEYQEVM NSKLGLDIEI ATYRRLLEGE EHRLCEGVGS VNVCVSSSRG 450 451 GVSCGGLSYS TTPGRQITSG PSAIGGSITV VAPDSCAPCQ PRSSSFSCGS 500 501 SRSVRFA
Head L1 L12 L2 Tail
1A 1B 2A 2B
Domain Name Probable Starting Amino Acid Position Probable Ending Amino Acid Position
Head 1 123
1A 124 158
L1 159 168
1B 169 269
L12 270 286
2A 287 305
L2 306 313
2B 314 434
Tail 435 507
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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 37603.
Information last updated on 2007-08-17 12:23:32
Organism NCBI Gene ID mRNA Accession Protein Accession Taxonomy division
Rattus norvegicus 407762 NM_001008811.1 NP_001008811.1 Rodents
Mus musculus 53622 NM_016879.2 NP_058575.2 Rodents
Canis familiaris 486527 XM_543653.2 XP_543653.2 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

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ASSOCIATED DISEASES
Information last updated on 2006-09-26 08:50:20
Click SEQUENCE VARIANTS to find individual mutations.
Disease Name Disease Abbreviation OMIM
Ectodermal Dysplasia, 'Pure' Hair-Nail Type #602032
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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 2006-09-26 08:50:20

* 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
9147 c.233G>A Substitution p.Arg78His Substitution Head Ectodermal Dysplasia, 'Pure' Hair-Nail Type Naeem et al, 2006
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