Homo sapiens (human): 844
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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)
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Gene cluster
GFIT
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
PDB
PDBj
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All DBs
Position
1:160190575..160201886
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AA seq
396 aa
AA seq
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MSATDRMGPRAVPGLRLALLLLLVLGTPKSGVQGQEGLDFPEYDGVDRVINVNAKNYKNV
FKKYEVLALLYHEPPEDDKASQRQFEMEELILELAAQVLEDKGVGFGLVDSEKDAAVAKK
LGLTEVDSMYVFKGDEVIEYDGEFSADTIVEFLLDVLEDPVELIEGERELQAFENIEDEI
KLIGYFKSKDSEHYKAFEDAAEEFHPYIPFFATFDSKVAKKLTLKLNEIDFYEAFMEEPV
TIPDKPNSEEEIVNFVEEHRRSTLRKLKPESMYETWEDDMDGIHIVAFAEEADPDGFEFL
ETLKAVAQDNTENPDLSIIWIDPDDFPLLVPYWEKTFDIDLSAPQIGVVNVTDADSVWME
MDDEEDLPSAEELEDWLEDVLEGEINTEDDDDDDDD
NT seq
1191 nt
NT seq
+upstream
nt +downstream
nt
atgagtgctacagacaggatggggcccagagctgtgccgggtctgcggctggcactgctg
ttgctgctggtgctagggacacccaagtcaggggtacaggggcaggaagggctggacttc
cctgagtacgatggtgtggaccgtgtgatcaatgtcaatgcaaagaactacaagaatgtg
ttcaagaagtatgaggtgctggcactcctctaccatgaaccccccgaggatgacaaggcc
tcacaaagacaatttgagatggaggagctgatcctggagttagcagcccaagtcctagaa
gacaagggtgttggcttcgggctggtagactctgagaaggatgcagctgtggccaagaaa
ctaggcctaactgaagtggacagcatgtatgtattcaagggagatgaagtcattgagtac
gatggcgagttttctgctgacaccatcgtggagtttctgcttgatgtcctagaggaccct
gtggaattgattgaaggtgaacgagagctgcaggcgtttgagaatattgaggatgagatc
aaactcattggctacttcaagagcaaagactcagagcattacaaagccttcgaggatgca
gctgaggagtttcatccctacatccccttcttcgccaccttcgacagcaaggtggcaaag
aagctgaccctgaagctgaatgagattgatttctacgaggccttcatggaagagcctgtg
accatcccagacaagcccaatagcgaagaggagattgtcaacttcgtggaggagcacagg
agatcaaccctgaggaaactgaagccggagagtatgtatgagacctgggaggatgatatg
gatggaatccacattgtggccttcgcagaggaagctgatcctgatggtttcgagttctta
gagactctcaaggctgtggcccaagataacactgaaaacccagatcttagcatcatctgg
attgaccctgatgacttccccctgctggtcccatactgggagaagacgtttgacatcgac
ttgtcagccccacaaataggagtcgtcaatgttactgatgcggatagcgtatggatggaa
atggacgatgaggaggacctgccttctgctgaggagctggaggactggctggaggatgtc
ctggagggcgagatcaacacagaggacgatgacgatgatgatgatgactag
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