KEGG   Homo sapiens (human): 844
Entry
844               CDS       T01001                                 
Symbol
CASQ1, CASQ, PDIB1, VMCQA
Name
(RefSeq) calsequestrin 1
  KO
K23468  calsequestrin 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04020  Calcium signaling pathway
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)
SSDB
Motif
Pfam: Calsequestrin Thioredoxin_6 OST3_OST6 WGG Thioredoxin
Other DBs
NCBI-GeneID: 844
NCBI-ProteinID: NP_001222
OMIM: 114250
HGNC: 1512
Ensembl: ENSG00000143318
Pharos: P31415(Tbio)
UniProt: P31415
Structure
Position
1:160190575..160201886
AA seq 396 aa
MSATDRMGPRAVPGLRLALLLLLVLGTPKSGVQGQEGLDFPEYDGVDRVINVNAKNYKNV
FKKYEVLALLYHEPPEDDKASQRQFEMEELILELAAQVLEDKGVGFGLVDSEKDAAVAKK
LGLTEVDSMYVFKGDEVIEYDGEFSADTIVEFLLDVLEDPVELIEGERELQAFENIEDEI
KLIGYFKSKDSEHYKAFEDAAEEFHPYIPFFATFDSKVAKKLTLKLNEIDFYEAFMEEPV
TIPDKPNSEEEIVNFVEEHRRSTLRKLKPESMYETWEDDMDGIHIVAFAEEADPDGFEFL
ETLKAVAQDNTENPDLSIIWIDPDDFPLLVPYWEKTFDIDLSAPQIGVVNVTDADSVWME
MDDEEDLPSAEELEDWLEDVLEGEINTEDDDDDDDD
NT seq 1191 nt   +upstreamnt  +downstreamnt
atgagtgctacagacaggatggggcccagagctgtgccgggtctgcggctggcactgctg
ttgctgctggtgctagggacacccaagtcaggggtacaggggcaggaagggctggacttc
cctgagtacgatggtgtggaccgtgtgatcaatgtcaatgcaaagaactacaagaatgtg
ttcaagaagtatgaggtgctggcactcctctaccatgaaccccccgaggatgacaaggcc
tcacaaagacaatttgagatggaggagctgatcctggagttagcagcccaagtcctagaa
gacaagggtgttggcttcgggctggtagactctgagaaggatgcagctgtggccaagaaa
ctaggcctaactgaagtggacagcatgtatgtattcaagggagatgaagtcattgagtac
gatggcgagttttctgctgacaccatcgtggagtttctgcttgatgtcctagaggaccct
gtggaattgattgaaggtgaacgagagctgcaggcgtttgagaatattgaggatgagatc
aaactcattggctacttcaagagcaaagactcagagcattacaaagccttcgaggatgca
gctgaggagtttcatccctacatccccttcttcgccaccttcgacagcaaggtggcaaag
aagctgaccctgaagctgaatgagattgatttctacgaggccttcatggaagagcctgtg
accatcccagacaagcccaatagcgaagaggagattgtcaacttcgtggaggagcacagg
agatcaaccctgaggaaactgaagccggagagtatgtatgagacctgggaggatgatatg
gatggaatccacattgtggccttcgcagaggaagctgatcctgatggtttcgagttctta
gagactctcaaggctgtggcccaagataacactgaaaacccagatcttagcatcatctgg
attgaccctgatgacttccccctgctggtcccatactgggagaagacgtttgacatcgac
ttgtcagccccacaaataggagtcgtcaatgttactgatgcggatagcgtatggatggaa
atggacgatgaggaggacctgccttctgctgaggagctggaggactggctggaggatgtc
ctggagggcgagatcaacacagaggacgatgacgatgatgatgatgactag

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