Homo sapiens (human): 844 Help Entry 844               CDS       T01001                                  Symbol CASQ1, CASQ, CSQ1, PDIB1, VMCQA Name (RefSeq) calsequestrin 1   KO K23468   calsequestrin 1 Organism hsa  Homo sapiens (human) Pathway hsa04020   Calcium signaling pathway Network nt06528  Calcium signaling   Element N01638   Skeletal-type VGCC-RYR signaling N01639   Cardiac-type VGCC-RYR signaling Disease H02320   Vacuolar myopathy with CASQ1 aggregates Brite KEGG Orthology (KO) [BR:hsa00001]  09130 Environmental Information Processing   09132 Signal transduction    04020 Calcium signaling pathway     844 (CASQ1) BRITE hierarchy SSDB OrthologParalogGene clusterGFIT Motif Pfam:  Calsequestrin Thioredoxin_6 OST3_OST6 TXNDC16_N Thioredoxin Motif Other DBs NCBI-GeneID:  844 NCBI-ProteinID:  NP_001222 OMIM:  114250 HGNC:  1512 Ensembl:  ENSG00000143318 UniProt:  P31415 Structure PDBPDBj LinkDB All DBs Position 1:160190575..160201886 Genome browser AA seq 396 aa AA seqDB search MSATDRMGPRAVPGLRLALLLLLVLGTPKSGVQGQEGLDFPEYDGVDRVINVNAKNYKNV FKKYEVLALLYHEPPEDDKASQRQFEMEELILELAAQVLEDKGVGFGLVDSEKDAAVAKK LGLTEVDSMYVFKGDEVIEYDGEFSADTIVEFLLDVLEDPVELIEGERELQAFENIEDEI KLIGYFKSKDSEHYKAFEDAAEEFHPYIPFFATFDSKVAKKLTLKLNEIDFYEAFMEEPV TIPDKPNSEEEIVNFVEEHRRSTLRKLKPESMYETWEDDMDGIHIVAFAEEADPDGFEFL ETLKAVAQDNTENPDLSIIWIDPDDFPLLVPYWEKTFDIDLSAPQIGVVNVTDADSVWME MDDEEDLPSAEELEDWLEDVLEGEINTEDDDDDDDD NT seq 1191 nt NT seq  +upstreamnt  +downstreamnt atgagtgctacagacaggatggggcccagagctgtgccgggtctgcggctggcactgctg ttgctgctggtgctagggacacccaagtcaggggtacaggggcaggaagggctggacttc cctgagtacgatggtgtggaccgtgtgatcaatgtcaatgcaaagaactacaagaatgtg ttcaagaagtatgaggtgctggcactcctctaccatgaaccccccgaggatgacaaggcc tcacaaagacaatttgagatggaggagctgatcctggagttagcagcccaagtcctagaa gacaagggtgttggcttcgggctggtagactctgagaaggatgcagctgtggccaagaaa ctaggcctaactgaagtggacagcatgtatgtattcaagggagatgaagtcattgagtac gatggcgagttttctgctgacaccatcgtggagtttctgcttgatgtcctagaggaccct gtggaattgattgaaggtgaacgagagctgcaggcgtttgagaatattgaggatgagatc aaactcattggctacttcaagagcaaagactcagagcattacaaagccttcgaggatgca gctgaggagtttcatccctacatccccttcttcgccaccttcgacagcaaggtggcaaag aagctgaccctgaagctgaatgagattgatttctacgaggccttcatggaagagcctgtg accatcccagacaagcccaatagcgaagaggagattgtcaacttcgtggaggagcacagg agatcaaccctgaggaaactgaagccggagagtatgtatgagacctgggaggatgatatg gatggaatccacattgtggccttcgcagaggaagctgatcctgatggtttcgagttctta gagactctcaaggctgtggcccaagataacactgaaaacccagatcttagcatcatctgg attgaccctgatgacttccccctgctggtcccatactgggagaagacgtttgacatcgac ttgtcagccccacaaataggagtcgtcaatgttactgatgcggatagcgtatggatggaa atggacgatgaggaggacctgccttctgctgaggagctggaggactggctggaggatgtc ctggagggcgagatcaacacagaggacgatgacgatgatgatgatgactag

Homo sapiens (human): 845 Help Entry 845               CDS       T01001                                  Symbol CASQ2, PDIB2 Name (RefSeq) calsequestrin 2   KO K23445   calsequestrin 2 Organism hsa  Homo sapiens (human) Pathway hsa04020   Calcium signaling pathway hsa04260   Cardiac muscle contraction Network nt06528  Calcium signaling   Element N01638   Skeletal-type VGCC-RYR signaling N01639   Cardiac-type VGCC-RYR signaling Disease H01019   Catecholaminergic polymorphic ventricular tachycardia Brite KEGG Orthology (KO) [BR:hsa00001]  09130 Environmental Information Processing   09132 Signal transduction    04020 Calcium signaling pathway     845 (CASQ2)  09150 Organismal Systems   09153 Circulatory system    04260 Cardiac muscle contraction     845 (CASQ2) BRITE hierarchy SSDB OrthologParalogGene clusterGFIT Motif Pfam:  Calsequestrin Thioredoxin_6 Motif Other DBs NCBI-GeneID:  845 NCBI-ProteinID:  NP_001223 OMIM:  114251 HGNC:  1513 Ensembl:  ENSG00000118729 UniProt:  O14958 Structure PDBPDBj LinkDB All DBs Position 1:complement(115700021..115768714) Genome browser AA seq 399 aa AA seqDB search MKRTHLFIVGIYFLSSCRAEEGLNFPTYDGKDRVVSLSEKNFKQVLKKYDLLCLYYHEPV SSDKVTQKQFQLKEIVLELVAQVLEHKAIGFVMVDAKKEAKLAKKLGFDEEGSLYILKGD RTIEFDGEFAADVLVEFLLDLIEDPVEIISSKLEVQAFERIEDYIKLIGFFKSEDSEYYK AFEEAAEHFQPYIKFFATFDKGVAKKLSLKMNEVDFYEPFMDEPIAIPNKPYTEEELVEF VKEHQRPTLRRLRPEEMFETWEDDLNGIHIVAFAEKSDPDGYEFLEILKQVARDNTDNPD LSILWIDPDDFPLLVAYWEKTFKIDLFRPQIGVVNVTDADSVWMEIPDDDDLPTAEELED WIEDVLSGKINTEDDDEDDDDDDNSDEEDNDDSDDDDDE NT seq 1200 nt NT seq  +upstreamnt  +downstreamnt atgaagagaactcacttgtttattgtggggatttattttctgtcctcttgcagggcagaa gaggggcttaatttccccacatatgatgggaaggaccgagtggtaagtctttccgagaag aacttcaagcaggttttaaagaaatatgacttgctttgcctctactaccatgagccggtg tcttcagataaggtcacgcaaaaacagttccaactgaaagaaatcgtgcttgagcttgtg gcccaggtccttgaacataaagctataggctttgtgatggtggatgccaagaaagaagcc aagcttgccaagaaactgggttttgatgaagaaggaagcctgtatattcttaagggtgat cgcacaatagagtttgatggcgagtttgcagctgatgtcttggtggagttcctcttggat ctaattgaagacccagtggagatcatcagcagcaaactggaagtccaagccttcgaacgc attgaagactacatcaaactcattggctttttcaagagtgaggactcagaatactacaag gcttttgaagaagcagctgaacacttccagccttacatcaaattctttgccacctttgac aaaggggttgcaaagaaattatctttgaagatgaatgaggttgacttctatgagccattt atggatgagcccattgccatccccaacaaaccttacacagaagaggagctggtggagttt gtgaaggaacaccaaagacccactctacgtcgcctgcgcccagaagaaatgtttgaaaca tgggaagatgatttgaatgggatccacattgtggcctttgcagagaagagtgatccagat ggctacgaattcctggagatcctgaaacaggttgcccgggacaatactgacaaccccgat ctgagcatcctgtggatcgacccggacgactttcctctgctcgttgcctactgggagaag actttcaagattgacctattcaggccacagattggggtggtgaatgtcacagatgctgac agtgtctggatggagattccagatgatgacgatcttccaactgctgaggagctggaggac tggattgaggatgtgctttctggaaagataaacactgaagatgatgatgaagatgatgat gatgatgataattctgatgaagaggataatgatgacagtgatgacgatgatgatgaatag

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