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2024-04-24 07:55:19, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_000299 5447 bp mRNA linear PRI 16-JUN-2013
DEFINITION Homo sapiens plakophilin 1 (ectodermal dysplasia/skin fragility
syndrome) (PKP1), transcript variant 1b, mRNA.
ACCESSION NM_000299
VERSION NM_000299.3 GI:300068950
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 5447)
AUTHORS Demirag,G.G., Sullu,Y. and Yucel,I.
TITLE Expression of Plakophilins (PKP1, PKP2, and PKP3) in breast cancers
JOURNAL Med. Oncol. 29 (3), 1518-1522 (2012)
PUBMED 21947748
REMARK GeneRIF: In breast cancer, compared with normal tissue, PKP1 and
PKP2 expressions were indifferent (P > 0.05), but PKP3 expression
was significantly increased
REFERENCE 2 (bases 1 to 5447)
AUTHORS Kaz,A.M., Luo,Y., Dzieciatkowski,S., Chak,A., Willis,J.E.,
Upton,M.P., Leidner,R.S. and Grady,W.M.
TITLE Aberrantly methylated PKP1 in the progression of Barrett's
esophagus to esophageal adenocarcinoma
JOURNAL Genes Chromosomes Cancer 51 (4), 384-393 (2012)
PUBMED 22170739
REMARK GeneRIF: PKP1 loss secondary to promoter methylation, as well as
other mechanisms, may promote the progression of Barrett's
esophagus to esophageal adenocarcinoma in a subset of patients via
decreased desmosome assembly and increased cell motility
REFERENCE 3 (bases 1 to 5447)
AUTHORS Sobolik-Delmaire,T., Reddy,R., Pashaj,A., Roberts,B.J. and
Wahl,J.K. III.
TITLE Plakophilin-1 localizes to the nucleus and interacts with
single-stranded DNA
JOURNAL J. Invest. Dermatol. 130 (11), 2638-2646 (2010)
PUBMED 20613778
REMARK GeneRIF: in addition to mediating desmosome assembly, the nuclear
pool of Pkp can influence cell survival by interactions with DNA
REFERENCE 4 (bases 1 to 5447)
AUTHORS Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
CONSRTM DREAM investigators
TITLE Variation at the NFATC2 locus increases the risk of
thiazolidinedione-induced edema in the Diabetes REduction
Assessment with ramipril and rosiglitazone Medication (DREAM) study
JOURNAL Diabetes Care 33 (10), 2250-2253 (2010)
PUBMED 20628086
REMARK GeneRIF: Observational study of gene-disease association,
gene-environment interaction, and pharmacogenomic / toxicogenomic.
(HuGE Navigator)
REFERENCE 5 (bases 1 to 5447)
AUTHORS Jugessur,A., Shi,M., Gjessing,H.K., Lie,R.T., Wilcox,A.J.,
Weinberg,C.R., Christensen,K., Boyles,A.L., Daack-Hirsch,S.,
Nguyen,T.T., Christiansen,L., Lidral,A.C. and Murray,J.C.
TITLE Maternal genes and facial clefts in offspring: a comprehensive
search for genetic associations in two population-based cleft
studies from Scandinavia
JOURNAL PLoS ONE 5 (7), E11493 (2010)
PUBMED 20634891
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
Publication Status: Online-Only
REFERENCE 6 (bases 1 to 5447)
AUTHORS Schmidt,A., Langbein,L., Rode,M., Pratzel,S., Zimbelmann,R. and
Franke,W.W.
TITLE Plakophilins 1a and 1b: widespread nuclear proteins recruited in
specific epithelial cells as desmosomal plaque components
JOURNAL Cell Tissue Res. 290 (3), 481-499 (1997)
PUBMED 9369526
REFERENCE 7 (bases 1 to 5447)
AUTHORS McGrath,J.A., McMillan,J.R., Shemanko,C.S., Runswick,S.K.,
Leigh,I.M., Lane,E.B., Garrod,D.R. and Eady,R.A.
TITLE Mutations in the plakophilin 1 gene result in ectodermal
dysplasia/skin fragility syndrome
JOURNAL Nat. Genet. 17 (2), 240-244 (1997)
PUBMED 9326952
REFERENCE 8 (bases 1 to 5447)
AUTHORS Cowley,C.M., Simrak,D., Spurr,N.K., Arnemann,J. and Buxton,R.S.
TITLE The plakophilin 1 (PKP1) and plakoglobin (JUP) genes map to human
chromosomes 1q and 17, respectively
JOURNAL Hum. Genet. 100 (3-4), 486-488 (1997)
PUBMED 9272178
REFERENCE 9 (bases 1 to 5447)
AUTHORS Heid,H.W., Schmidt,A., Zimbelmann,R., Schafer,S.,
Winter-Simanowski,S., Stumpp,S., Keith,M., Figge,U., Schnolzer,M.
and Franke,W.W.
TITLE Cell type-specific desmosomal plaque proteins of the plakoglobin
family: plakophilin 1 (band 6 protein)
JOURNAL Differentiation 58 (2), 113-131 (1994)
PUBMED 7890138
REFERENCE 10 (bases 1 to 5447)
AUTHORS Hatzfeld,M., Kristjansson,G.I., Plessmann,U. and Weber,K.
TITLE Band 6 protein, a major constituent of desmosomes from stratified
epithelia, is a novel member of the armadillo multigene family
JOURNAL J. Cell. Sci. 107 (PT 8), 2259-2270 (1994)
PUBMED 7527055
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from Z34974.1 and AC119427.3.
This sequence is a reference standard in the RefSeqGene project.
On Jul 2, 2010 this sequence version replaced gi:53729345.
Summary: This gene encodes a member of the arm-repeat (armadillo)
and plakophilin gene families. Plakophilin proteins contain
numerous armadillo repeats, localize to cell desmosomes and nuclei,
and participate in linking cadherins to intermediate filaments in
the cytoskeleton. This protein may be involved in molecular
recruitment and stabilization during desmosome formation. Mutations
in this gene have been associated with the ectodermal
dysplasia/skin fragility syndrome. Two transcript variants encoding
different isoforms have been found for this gene. [provided by
RefSeq, Jul 2010].
Transcript Variant: This variant (1b) represents the longer
transcript variant and encodes the longer protein (isoform 1b).
Sequence Note: This RefSeq record was created from transcript and
genomic sequence data to make the sequence consistent with the
reference genome assembly. The genomic coordinates used for the
transcript record were based on transcript alignments.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
RNAseq introns :: mixed/partial sample support ERS025081, ERS025084
[ECO:0000350]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-121 Z34974.1 2-122
122-122 AC119427.3 36591-36591
123-1483 Z34974.1 124-1484
1484-1546 AC119427.3 72834-72896
1547-2742 Z34974.1 1485-2680
2743-5447 AC119427.3 83307-86011
FEATURES Location/Qualifiers
source 1..5447
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="1"
/map="1q32"
gene 1..5447
/gene="PKP1"
/gene_synonym="B6P"
/note="plakophilin 1 (ectodermal dysplasia/skin fragility
syndrome)"
/db_xref="GeneID:5317"
/db_xref="HGNC:9023"
/db_xref="MIM:601975"
exon 1..453
/gene="PKP1"
/gene_synonym="B6P"
/inference="alignment:Splign:1.39.8"
variation 122
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="t"
/db_xref="dbSNP:861275"
variation 136
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="g"
/db_xref="dbSNP:149821471"
variation 166
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="c"
/db_xref="dbSNP:117651274"
misc_feature 216..218
/gene="PKP1"
/gene_synonym="B6P"
/note="upstream in-frame stop codon"
variation 221
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="g"
/db_xref="dbSNP:199756966"
variation 232
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:368748415"
variation 241
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:377338146"
variation 243
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:34961064"
variation 248
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="g"
/db_xref="dbSNP:373547864"
variation 249
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:113017151"
CDS 252..2495
/gene="PKP1"
/gene_synonym="B6P"
/note="isoform 1b is encoded by transcript variant 1b;
band 6 protein"
/codon_start=1
/product="plakophilin-1 isoform 1b"
/protein_id="NP_000290.2"
/db_xref="GI:53729346"
/db_xref="CCDS:CCDS30966.1"
/db_xref="GeneID:5317"
/db_xref="HGNC:9023"
/db_xref="MIM:601975"
/translation="
MNHSPLKTALAYECFQDQDNSTLALPSDQKMKTGTSGRQRVQEQVMMTVKRQKSKSSQSSTLSHSNRGSMYDGLADNYNYGTTSRSSYYSKFQAGNGSWGYPIYNGTLKREPDNRRFSSYSQMENWSRHYPRGSCNTTGAGSDICFMQKIKASRSEPDLYCDPRGTLRKGTLGSKGQKTTQNRYSFYSTCSGQKAIKKCPVRPPSCASKQDPVYIPPISCNKDLSFGHSRASSKICSEDIECSGLTIPKAVQYLSSQDEKYQAIGAYYIQHTCFQDESAKQQVYQLGGICKLVDLLRSPNQNVQQAAAGALRNLVFRSTTNKLETRRQNGIREAVSLLRRTGNAEIQKQLTGLLWNLSSTDELKEELIADALPVLADRVIIPFSGWCDGNSNMSREVVDPEVFFNATGCLRKRLGMRELLALVPQRATSSRVNLSSADAGRQTMRNYSGLIDSLMAYVQNCVAASRCDDKSVENCMCVLHNLSYRLDAEVPTRYRQLEYNARNAYTEKSSTGCFSNKSDKMMNNNYDCPLPEEETNPKGSGWLYHSDAIRTYLNLMGKSKKDATLEACAGALQNLTASKGLMSSGMSQLIGLKEKGLPQIARLLQSGNSDVVRSGASLLSNMSRHPLLHRVMGNQVFPEVTRLLTSHTGNTSNSEDILSSACYTVRNLMASQPQLAKQYFSSSMLNNIINLCRSSASPKAAEAARLLLSDMWSSKELQGVLRQQGFDRNMLGTLAGANSLRNFTSRF
"
misc_feature 891..893
/gene="PKP1"
/gene_synonym="B6P"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 978..1073
/gene="PKP1"
/gene_synonym="B6P"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q13835.2);
Region: ARM 1"
misc_feature 990..1328
/gene="PKP1"
/gene_synonym="B6P"
/note="Armadillo/beta-catenin-like repeats. An
approximately 40 amino acid long tandemly repeated
sequence motif first identified in the Drosophila segment
polarity gene armadillo; these repeats were also found in
the mammalian armadillo homolog beta-catenin; Region: ARM;
cd00020"
/db_xref="CDD:28904"
misc_feature order(1038..1040,1050..1052,1062..1064,1155..1157,
1167..1169,1176..1178,1188..1190,1296..1298,1305..1307,
1314..1319,1326..1328)
/gene="PKP1"
/gene_synonym="B6P"
/note="protein binding surface [polypeptide binding];
other site"
/db_xref="CDD:28904"
misc_feature 1074..1199
/gene="PKP1"
/gene_synonym="B6P"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q13835.2);
Region: ARM 2"
misc_feature 1200..1328
/gene="PKP1"
/gene_synonym="B6P"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q13835.2);
Region: ARM 3"
misc_feature 1329..1496
/gene="PKP1"
/gene_synonym="B6P"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q13835.2);
Region: ARM 4"
misc_feature 1497..1640
/gene="PKP1"
/gene_synonym="B6P"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q13835.2);
Region: ARM 5"
misc_feature 1746..1748
/gene="PKP1"
/gene_synonym="B6P"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 1824..1919
/gene="PKP1"
/gene_synonym="B6P"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q13835.2);
Region: ARM 6"
misc_feature 1875..2261
/gene="PKP1"
/gene_synonym="B6P"
/note="Armadillo/beta-catenin-like repeats. An
approximately 40 amino acid long tandemly repeated
sequence motif first identified in the Drosophila segment
polarity gene armadillo; these repeats were also found in
the mammalian armadillo homolog beta-catenin; Region: ARM;
cd00020"
/db_xref="CDD:28904"
misc_feature 1920..2060
/gene="PKP1"
/gene_synonym="B6P"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q13835.2);
Region: ARM 7"
misc_feature order(1947..1949,1959..1961,1971..1973,2079..2081,
2091..2093,2100..2102,2112..2114,2229..2231,2238..2240,
2247..2252,2259..2261)
/gene="PKP1"
/gene_synonym="B6P"
/note="protein binding surface [polypeptide binding];
other site"
/db_xref="CDD:28904"
misc_feature 2061..2198
/gene="PKP1"
/gene_synonym="B6P"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q13835.2);
Region: ARM 8"
misc_feature 2199..2390
/gene="PKP1"
/gene_synonym="B6P"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q13835.2);
Region: ARM 9"
variation 287
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:2268147"
variation 310
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:199604952"
variation 328
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:377481646"
variation 342
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:370900946"
variation 361
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:113410388"
variation 365
/gene="PKP1"
/gene_synonym="B6P"
/replace="g"
/replace="t"
/db_xref="dbSNP:375084708"
variation 387
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="t"
/db_xref="dbSNP:369806569"
variation 402
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:181972441"
variation 405
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="c"
/db_xref="dbSNP:200433412"
variation 409
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:199797410"
exon 454..557
/gene="PKP1"
/gene_synonym="B6P"
/inference="alignment:Splign:1.39.8"
variation 476
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:141484211"
variation 481
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:150847034"
variation 492
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:147328328"
variation 514
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:141060367"
variation 523
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:146997188"
variation 542
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:142121267"
variation 545
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:111264274"
variation 556
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:367643085"
variation 557
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:140908060"
exon 558..952
/gene="PKP1"
/gene_synonym="B6P"
/inference="alignment:Splign:1.39.8"
variation 580
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:150161614"
variation 595
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:147062963"
variation 596
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:138354987"
variation 598
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:34626929"
variation 637
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:369088645"
variation 640
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:371948391"
variation 646
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:376443293"
variation 666
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:200423351"
variation 668
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:374045033"
variation 669
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:77893096"
variation 683
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:139245064"
variation 704
/gene="PKP1"
/gene_synonym="B6P"
/replace="g"
/replace="t"
/db_xref="dbSNP:149029415"
variation 711
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:151214763"
variation 726
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="c"
/db_xref="dbSNP:367893541"
variation 733
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:34704938"
variation 742
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:143927870"
variation 754
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:200647803"
variation 755
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:199990009"
variation 785
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:201942649"
variation 795
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="c"
/db_xref="dbSNP:148156855"
variation 830
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:34769677"
variation 837
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:35507614"
variation 851
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:368028956"
variation 855
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:144063217"
variation 856
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:78314242"
variation 858
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:371876880"
variation 860
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:148914791"
variation 899
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:200419666"
variation 930
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:373022722"
exon 953..1097
/gene="PKP1"
/gene_synonym="B6P"
/inference="alignment:Splign:1.39.8"
variation 971
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:201629569"
variation 980
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="t"
/db_xref="dbSNP:375931616"
variation 984
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:7514146"
variation 1001
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:201749145"
variation 1025
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:375835333"
variation 1030
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="t"
/db_xref="dbSNP:142131454"
variation 1031
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1779297"
variation 1042
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:369999615"
variation 1061
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:376127281"
variation 1077
/gene="PKP1"
/gene_synonym="B6P"
/replace="g"
/replace="t"
/db_xref="dbSNP:191741262"
exon 1098..1305
/gene="PKP1"
/gene_synonym="B6P"
/inference="alignment:Splign:1.39.8"
variation 1127
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:143587802"
variation 1134
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="g"
/db_xref="dbSNP:150414253"
variation 1140
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="g"
/db_xref="dbSNP:368718493"
variation 1157
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:190053583"
variation 1158
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:143092948"
variation 1161
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:121918354"
variation 1169
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1722779"
variation 1170
/gene="PKP1"
/gene_synonym="B6P"
/replace="g"
/replace="t"
/db_xref="dbSNP:142112484"
variation 1196
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:200097129"
variation 1232
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:139437589"
variation 1247
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:147633517"
variation 1259
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:148303000"
variation 1263
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="c"
/db_xref="dbSNP:12562244"
variation 1274
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:371394152"
variation 1275
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:375682551"
variation 1280
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="c"
/db_xref="dbSNP:368398439"
exon 1306..1483
/gene="PKP1"
/gene_synonym="B6P"
/inference="alignment:Splign:1.39.8"
variation 1353
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:142169193"
variation 1358
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:201842614"
variation 1359
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:180970899"
variation 1365
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:367927398"
variation 1367
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="g"
/db_xref="dbSNP:371461061"
variation 1380
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:145561852"
variation 1383
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:200975137"
variation 1385
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:148096263"
variation 1412
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:375745566"
variation 1413
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:141184851"
variation 1434
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:369928249"
variation 1435
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:373286108"
variation 1451
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:375406840"
variation 1463
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:200023228"
exon 1484..1546
/gene="PKP1"
/gene_synonym="B6P"
/inference="alignment:Splign:1.39.8"
variation 1495
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:1626370"
variation 1522
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="c"
/db_xref="dbSNP:41269939"
variation 1523
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:139477402"
variation 1545
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:147220754"
exon 1547..1661
/gene="PKP1"
/gene_synonym="B6P"
/inference="alignment:Splign:1.39.8"
variation 1551
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="c"
/db_xref="dbSNP:370631788"
variation 1553
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:142220495"
variation 1558
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:151203492"
variation 1562
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:150013883"
variation 1563
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:141222689"
variation 1572
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:146785756"
variation 1574
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:371224887"
variation 1585
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:376870836"
variation 1639
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:10920171"
variation 1640
/gene="PKP1"
/gene_synonym="B6P"
/replace="g"
/replace="t"
/db_xref="dbSNP:200173870"
variation 1641
/gene="PKP1"
/gene_synonym="B6P"
/replace="g"
/replace="t"
/db_xref="dbSNP:376318223"
variation 1647
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:74136386"
variation 1648
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:137968512"
variation 1650
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:78672252"
variation 1655
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:375542525"
exon 1662..1817
/gene="PKP1"
/gene_synonym="B6P"
/inference="alignment:Splign:1.39.8"
variation 1667
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:376484047"
variation 1688
/gene="PKP1"
/gene_synonym="B6P"
/replace="g"
/replace="t"
/db_xref="dbSNP:368961324"
variation 1689
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:371151624"
variation 1704
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:374293363"
variation 1712
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:149333889"
variation 1734
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:148461275"
variation 1752
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:201459638"
variation 1755
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="c"
/db_xref="dbSNP:370789305"
variation 1756
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:188436125"
variation 1760
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:146580475"
variation 1762
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:201374321"
variation 1765
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:199797105"
exon 1818..1994
/gene="PKP1"
/gene_synonym="B6P"
/inference="alignment:Splign:1.39.8"
variation 1821
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:143670888"
variation 1845
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:371952348"
variation 1871
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:150488138"
variation 1872
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:149193673"
variation 1900
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:143362477"
variation 1960
/gene="PKP1"
/gene_synonym="B6P"
/replace="g"
/replace="t"
/db_xref="dbSNP:202228705"
variation 1989
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:200486077"
exon 1995..2148
/gene="PKP1"
/gene_synonym="B6P"
/inference="alignment:Splign:1.39.8"
variation 2020
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:202232462"
variation 2055
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:377328987"
variation 2056
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:142096411"
variation 2061
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:369918615"
variation 2088
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:138678921"
variation 2114
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:201145416"
variation 2129
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:138066192"
exon 2149..2335
/gene="PKP1"
/gene_synonym="B6P"
/inference="alignment:Splign:1.39.8"
variation 2165
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:374521427"
variation 2196
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:373741646"
variation 2209
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="c"
/db_xref="dbSNP:200677178"
variation 2222
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:201256516"
variation 2257
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:200736537"
variation 2263
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:200484616"
variation 2297
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:199709077"
variation 2329
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:139909774"
exon 2336..2420
/gene="PKP1"
/gene_synonym="B6P"
/inference="alignment:Splign:1.39.8"
variation 2347
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="t"
/db_xref="dbSNP:146324118"
variation 2364
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:61818256"
variation 2372
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:148462731"
variation 2376
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:376796997"
variation 2406
/gene="PKP1"
/gene_synonym="B6P"
/replace="g"
/replace="t"
/db_xref="dbSNP:142615612"
variation 2407
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:201628992"
exon 2421..2527
/gene="PKP1"
/gene_synonym="B6P"
/inference="alignment:Splign:1.39.8"
variation 2426
/gene="PKP1"
/gene_synonym="B6P"
/replace="g"
/replace="t"
/db_xref="dbSNP:373661853"
variation 2430
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:201180970"
variation 2483
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:376113980"
variation 2520
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="g"
/db_xref="dbSNP:370739529"
exon 2528..5447
/gene="PKP1"
/gene_synonym="B6P"
/inference="alignment:Splign:1.39.8"
variation 2563
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:150757816"
variation 2589
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:947374"
variation 2646
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:79906867"
variation 2687
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:114649649"
variation 2715..2716
/gene="PKP1"
/gene_synonym="B6P"
/replace=""
/replace="c"
/db_xref="dbSNP:201366172"
variation 2717
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="g"
/db_xref="dbSNP:7541805"
variation 2719
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:947375"
variation 2793
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="t"
/db_xref="dbSNP:184565243"
variation 2796
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="c"
/db_xref="dbSNP:947376"
variation 2822
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:188228781"
variation 2830..2831
/gene="PKP1"
/gene_synonym="B6P"
/replace=""
/replace="tg"
/db_xref="dbSNP:142978010"
variation 2950
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:372822124"
variation 3074
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:10920174"
variation 3111
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="c"
/db_xref="dbSNP:2365648"
variation 3168
/gene="PKP1"
/gene_synonym="B6P"
/replace="g"
/replace="t"
/db_xref="dbSNP:74504311"
variation 3178
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:1105331"
variation 3204
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:3795628"
variation 3208
/gene="PKP1"
/gene_synonym="B6P"
/replace="g"
/replace="t"
/db_xref="dbSNP:181019805"
variation 3213
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:184294871"
variation 3226
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:3795629"
variation 3281
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:149894452"
variation 3310
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:190014563"
variation 3320
/gene="PKP1"
/gene_synonym="B6P"
/replace="g"
/replace="t"
/db_xref="dbSNP:28602515"
variation 3351
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:1104755"
variation 3359
/gene="PKP1"
/gene_synonym="B6P"
/replace="g"
/replace="t"
/db_xref="dbSNP:61819986"
variation 3391
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:181273328"
variation 3419
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:3795630"
variation 3495
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="t"
/db_xref="dbSNP:111378582"
variation 3527
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:147193741"
variation 3551
/gene="PKP1"
/gene_synonym="B6P"
/replace="g"
/replace="t"
/db_xref="dbSNP:186112428"
variation 3571
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="c"
/db_xref="dbSNP:6667284"
variation 3643
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:140478008"
variation 3779..3780
/gene="PKP1"
/gene_synonym="B6P"
/replace=""
/replace="g"
/db_xref="dbSNP:35917356"
variation 3800
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:188915730"
variation 3847
/gene="PKP1"
/gene_synonym="B6P"
/replace="g"
/replace="t"
/db_xref="dbSNP:368916010"
variation 4043
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:181971047"
variation 4050
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:12564605"
variation 4147
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:147846879"
variation 4168
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:10920175"
variation 4184
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="c"
/db_xref="dbSNP:10800772"
variation 4202
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:370255022"
variation 4225
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:186347223"
variation 4289
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="g"
/db_xref="dbSNP:111972864"
variation 4307
/gene="PKP1"
/gene_synonym="B6P"
/replace="g"
/replace="t"
/db_xref="dbSNP:149146601"
variation 4379
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:17425876"
variation 4437
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="c"
/db_xref="dbSNP:12120834"
variation 4623
/gene="PKP1"
/gene_synonym="B6P"
/replace="g"
/replace="t"
/db_xref="dbSNP:142266525"
variation 4694
/gene="PKP1"
/gene_synonym="B6P"
/replace="g"
/replace="t"
/db_xref="dbSNP:374781187"
variation 4733
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:369086799"
variation 4857
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:77409791"
variation 4863
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:191912888"
variation 5000
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="g"
/db_xref="dbSNP:61819987"
variation 5010
/gene="PKP1"
/gene_synonym="B6P"
/replace="g"
/replace="t"
/db_xref="dbSNP:151236820"
variation 5022
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:12143423"
variation 5037
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:58828153"
variation 5038
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="c"
/db_xref="dbSNP:140498940"
variation 5063..5064
/gene="PKP1"
/gene_synonym="B6P"
/replace=""
/replace="cccccaccctga"
/db_xref="dbSNP:139473144"
variation 5063
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:200445704"
variation 5064..5065
/gene="PKP1"
/gene_synonym="B6P"
/replace=""
/replace="cccccaccctga"
/db_xref="dbSNP:72276420"
variation 5066..5067
/gene="PKP1"
/gene_synonym="B6P"
/replace=""
/replace="ccaccctgaccc"
/replace="ccaccctgacct"
/db_xref="dbSNP:61710598"
variation 5067..5068
/gene="PKP1"
/gene_synonym="B6P"
/replace=""
/replace="ccaccctgaccc"
/db_xref="dbSNP:66960101"
variation 5073
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:183009669"
variation 5079
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:145675260"
variation 5089
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:138426889"
variation 5115..5116
/gene="PKP1"
/gene_synonym="B6P"
/replace=""
/replace="a"
/db_xref="dbSNP:34347167"
variation 5124
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="t"
/db_xref="dbSNP:1046941"
variation 5199
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1046962"
variation 5232
/gene="PKP1"
/gene_synonym="B6P"
/replace="c"
/replace="g"
/db_xref="dbSNP:1046970"
variation 5247
/gene="PKP1"
/gene_synonym="B6P"
/replace="a"
/replace="g"
/db_xref="dbSNP:73074694"
STS 5283..5382
/gene="PKP1"
/gene_synonym="B6P"
/standard_name="G34869"
/db_xref="UniSTS:74715"
STS 5298..5447
/gene="PKP1"
/gene_synonym="B6P"
/standard_name="SHGC-34136"
/db_xref="UniSTS:1739"
variation 5318..5319
/gene="PKP1"
/gene_synonym="B6P"
/replace=""
/replace="c"
/db_xref="dbSNP:34464854"
polyA_signal 5419..5424
/gene="PKP1"
/gene_synonym="B6P"
polyA_site 5447
/gene="PKP1"
/gene_synonym="B6P"
ORIGIN
gggtggtgcagggcaggggtggtatatcctgtctgacggagggcgggcctcgccagtgccagagagggacgaaccagggtggaagcgccaggagcagctgcagggagccctcacgcggaccacgcactctatggccgtagggagccgctgagagcgagaagagcacgctcctgcccgcccgctgcaccgcacctcgcctcgcctctctgctctcctaggccccggccgcgcgccacccgcctcccgccaccatgaaccactcgccgctcaagaccgccttggcgtacgaatgcttccaggaccaggacaactccacgttggctttgccgtcggaccaaaagatgaaaacaggcacgtctggcaggcagcgcgtgcaggagcaggtgatgatgaccgtcaagcggcagaagtccaagtcttcccagtcgtccaccctgagccactccaatcgaggttccatgtatgatggcttggctgacaattacaactatgggaccaccagcaggagcagctactactccaagttccaggcagggaatggctcatggggatatccgatctacaatggaaccctcaagcgggagcctgacaacaggcgcttcagctcctacagccagatggagaactggagccggcactacccccggggcagctgtaacaccaccggcgcaggcagcgacatctgcttcatgcagaaaatcaaggcgagccgcagtgagcccgacctctactgtgacccacggggcaccctgcgcaagggcacgctgggcagcaagggccagaagaccacccagaaccgctacagcttttacagcacctgcagtggtcagaaggccataaagaagtgccctgtgcgcccgccctcttgtgcctccaagcaggaccctgtgtatatcccgcccatctcctgcaacaaggacctgtcctttggccactctagggccagctccaagatctgcagtgaggacatcgagtgcagtgggctgaccatccccaaggctgtgcagtacctgagctcccaggatgagaagtaccaggccattggggcctattacatccagcatacctgcttccaggatgaatctgccaagcaacaggtctatcagctgggaggcatctgcaagctggtggacctcctccgcagccccaaccagaacgtccagcaggccgcggcaggggccctgcgcaacctggtgttcaggagcaccaccaacaagctggagacccggaggcagaatgggatccgcgaggcagtcagcctcctgaggagaaccgggaacgccgagatccagaagcagctgactgggctgctctggaacctgtcttccactgacgagctgaaggaggaactcattgccgacgccctgcctgttctggccgaccgcgtcatcattcccttctctggctggtgcgatggcaatagcaacatgtcccgggaagtggtggaccctgaggtcttcttcaatgccacaggctgcttgagaaagagactgggcatgcgggagcttctggctcttgttccgcaaagggccactagtagcagggtgaacctgagctcggccgatgcaggccgccagaccatgcgtaactactcagggctcattgattccctcatggcctatgtccagaactgtgtagcggccagccgctgtgacgacaagtctgtggaaaactgcatgtgtgttctgcacaacctctcctaccgcctggacgccgaggtgcccacccgctaccgccagctggagtataacgcccgcaacgcctacaccgagaagtcctccactggctgcttcagcaacaagagcgacaagatgatgaacaacaactatgactgccccctgcctgaggaagagaccaaccccaagggcagcggctggttgtaccattcagatgccatccgcacctacctgaacctcatgggcaagagcaagaaagatgctaccctggaggcctgtgctggtgccctgcagaacctgacagccagcaaggggctgatgtccagtggcatgagccagttgattgggctgaaggaaaagggcctgccacaaattgcccgcctcctgcaatctggcaactctgatgtggtgcggtccggagcctccctcctgagcaacatgtcccgccaccctctgctgcacagagtgatggggaaccaggtgttcccggaggtgaccaggctcctcaccagccacactggcaataccagcaactccgaagacatcttgtcctcggcctgctacactgtgaggaacctgatggcctcgcagccacaactggccaagcagtacttctccagcagcatgctcaacaacatcatcaacctgtgccgaagcagtgcctcacccaaggccgcagaagctgcccggcttctcctgtctgacatgtggtccagcaaggaactgcagggtgtcctcagacagcaaggtttcgataggaacatgctgggaaccttagctggggccaacagcctcaggaacttcacctcccgattctaagaagagactgtccaagcaagttaggcttgcaggaagatatgacccagctgagaagccctcaggcctcgctggatggggttttctgtccatcctgtgcagtatttgggaaagttcacaagaaactgagaagaaacctaaaaactgtggatagtggaaagatttttagattttttttttccttggggaaactggcaggcaatgggggttagggaggttggggcggggggggctttcttgagttaaaggggcttatatgtgatgtcaatatttcttcctctgagaaatggtatatatatgtgtataatgtaagtgtgtgcatgcatgtgcgcgtgcatgtgtgtgtgtgtgagtgtcttaaagcataaccacaaactgcaaaaagctaggtaagctattttgttgcagctcataaggtggtgaaaaggactctcctgtgtttcttactcataggcaaggacaacatgtgctttttggtgagctgctcataattcctgaaatgtgtggtgccagggcaagggggccatcactgcagtcaggccctcagaggagtcctgcaggcttcctaccagtggtctccaggggtgcaggagtaactggggctgggccagcctccccacttacaaggctgctttccaggaagggaggtctggtgtatctcatgggagaatctggggtgtctgtaatgtcacccctccagcagcgccacaaggactgaggttgggtaggtgtggggttccagaggacagcaggacactctcgcatactttgccaaatgaggcctgctcagaggagtaggagctgaaagatggtgccttccaccctcttgggctgtgtgcccatcagagcaggctcagcctgcaaaggccctgcattcagaggtcttgtaatctacttgttgcaggagaaagaaggtaaaaaatgatttttttaagaaaagctattttattgcagctctttcccaagagctgttctgggaatggctggtcttcatattcccagtggagaggggaacaagtggggctgggcatatacctattccggcttctagtgggatggagttggggtatagaaattaaccaggaagatgtttccaccaagcctgctgtgagtcaattgagggagtgtttggggtcccaggagacttggacggggggagtttgggtagactaggaaaggaaagtgccatatcagggtaccggtaccggcaagctcacatctcagccaggggccatgccccacttcccctgaccccagctgtcttgtctccactctgtgaaacccacaggggatgtgataaacagggctattaggggtatcagccacgtcgagcccccagactctgtgcacttcagaccagcagcagcaggagggctcccgagggccttatgagaaaacctgtgtggacatcccttggtgtacactaagacagagcagagcccagcgctcccaagccttcctccttccagcttctacctccatgctagcattgctggtgttagagaggaattaacttcctggtctgtgcccttctctagaagaatataagatgctcctcctcctcaccccttctcagcctcctcccaagtcttcctcttctgcaccacccccgagtccaaacccacctcttgccccagcattcaggctggaaaacactgatgtggactcagtatgataactgagatgggggacgccagacatgtgaggacgctgtcctccgagaggtgtccccggctgttagccagctgtgctgtggtgctgtgggtctgtcataccctcccttgcttctgttcacactgggaggcccactcctggctcacctctccctctcagggacccacgtgggagcctggatccctggactgtcctgggcataggtttcaggggcctcctttgttgtcatcagaacccagaggaattcttctcctaaaaaatacgtatggcataccaatctgtgcggggcagtgtcctaagcacttagactacatcagggaagaacacagaccacatccctgtcctcatgcggcttatgttttctggaggaaagtggagacacaagtccttggctttagggctcccccggctgggggctgtgcagtccggtcagggcgggaggggaaatgcaccgctgcatgtgaaccttaccagcccaggcggatgccccttccccttagcactaccctggcctcctgcatcccctcgcctcatgttcctcccaccttcaaagaatgaagagccccatgggcccagcccctgccctgggaaccaggcagccttccagacctcaggggctgaggcagactattagggcagggctgactttggtgacactgcccattccctctcaggccagctcaggtcacccgggcctctgacccaggcctgtcactttgagaggggcaaaactgagaggggcttttcctagagaaagagaacaaggagcttgccaggcttcatgtagccgacacacgtctcaggattttaagtccacattggcctcacactaccagggccaatgcccaaaataaggagttccaatttggggccaaatgaggaaggacacagactctgccctgggatctcctgtgctagcggccaatgacaaatccagtcattggccaccagccacctctgcagtggggaccacactagcagccctgactccacactcctcctggggacccaagaggcagtgttgctgtctgcatgtccaccttggaatctggctgaactggctggcaggaccaagactgcggctggggtgggcagggaagggaagccgggggctgctgtgagggatcttggagcttccctgtagcccaccttccccttgcttcatgtttgtagaggaaccttgtgccggccaggcccagtttccttgtgtgatacactaatgtatttgctttttttggaaatagagaaaatcaataaattgctagtgtttctttgaacttt
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:5317 -> Molecular function: GO:0004871 [signal transducer activity] evidence: TAS
GeneID:5317 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:5317 -> Molecular function: GO:0005521 [lamin binding] evidence: IDA
GeneID:5317 -> Molecular function: GO:0019215 [intermediate filament binding] evidence: NAS
GeneID:5317 -> Molecular function: GO:0030280 [structural constituent of epidermis] evidence: NAS
GeneID:5317 -> Biological process: GO:0006915 [apoptotic process] evidence: TAS
GeneID:5317 -> Biological process: GO:0006921 [cellular component disassembly involved in execution phase of apoptosis] evidence: TAS
GeneID:5317 -> Biological process: GO:0007155 [cell adhesion] evidence: NAS
GeneID:5317 -> Biological process: GO:0007165 [signal transduction] evidence: NAS
GeneID:5317 -> Biological process: GO:0007275 [multicellular organismal development] evidence: IEA
GeneID:5317 -> Biological process: GO:0045110 [intermediate filament bundle assembly] evidence: IDA
GeneID:5317 -> Cellular component: GO:0005634 [nucleus] evidence: IDA
GeneID:5317 -> Cellular component: GO:0005634 [nucleus] evidence: NAS
GeneID:5317 -> Cellular component: GO:0005730 [nucleolus] evidence: IDA
GeneID:5317 -> Cellular component: GO:0005882 [intermediate filament] evidence: TAS
GeneID:5317 -> Cellular component: GO:0005886 [plasma membrane] evidence: TAS
GeneID:5317 -> Cellular component: GO:0030057 [desmosome] evidence: NAS
by
@meso_cacase at
DBCLS
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