KEGG   Homo sapiens (human): 844
Entry
844               CDS       T01001                                 

Gene name
CASQ1, CASQ, PDIB1, VMCQA
Definition
(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
Vega: OTTHUMG00000031607
Pharos: P31415(Tbio)
UniProt: P31415
LinkDB
Structure
PDB: 
5CRG 3UOM 5CRH 5CRD 5CRE

Position
1q23.2
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

KEGG   Homo sapiens (human): 845
Entry
845               CDS       T01001                                 

Gene name
CASQ2, PDIB2
Definition
(RefSeq) calsequestrin 2
  KO
K23445  calsequestrin 2
Organism
hsa  Homo sapiens (human)
Pathway
hsa04020  Calcium signaling pathway
hsa04260  Cardiac muscle contraction
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)
SSDB
Motif
Pfam: Calsequestrin Thioredoxin_6
Other DBs
NCBI-GeneID: 845
NCBI-ProteinID: NP_001223
OMIM: 114251
HGNC: 1513
Ensembl: ENSG00000118729
Vega: OTTHUMG00000011970
Pharos: O14958(Tbio)
UniProt: O14958
LinkDB
Structure
PDB: 
2VAF

Position
1p13.1
AA seq 399 aa
MKRTHLFIVGIYFLSSCRAEEGLNFPTYDGKDRVVSLSEKNFKQVLKKYDLLCLYYHEPV
SSDKVTQKQFQLKEIVLELVAQVLEHKAIGFVMVDAKKEAKLAKKLGFDEEGSLYILKGD
RTIEFDGEFAADVLVEFLLDLIEDPVEIISSKLEVQAFERIEDYIKLIGFFKSEDSEYYK
AFEEAAEHFQPYIKFFATFDKGVAKKLSLKMNEVDFYEPFMDEPIAIPNKPYTEEELVEF
VKEHQRPTLRRLRPEEMFETWEDDLNGIHIVAFAEKSDPDGYEFLEILKQVARDNTDNPD
LSILWIDPDDFPLLVAYWEKTFKIDLFRPQIGVVNVTDADSVWMEIPDDDDLPTAEELED
WIEDVLSGKINTEDDDEDDDDDDNSDEEDNDDSDDDDDE
NT seq 1200 nt   +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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