KEGG   Homo sapiens (human): 6261
Entry
6261              CDS       T01001                                 
Symbol
RYR1, CCO, CMYO1A, CMYO1B, CMYP1A, CMYP1B, KDS, MHS, MHS1, PPP1R137, RYDR, RYR, RYR-1, SKRR
Name
(RefSeq) ryanodine receptor 1
  KO
K04961  ryanodine receptor 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04020  Calcium signaling pathway
hsa04371  Apelin signaling pathway
hsa04713  Circadian entrainment
hsa04730  Long-term depression
hsa04921  Oxytocin signaling pathway
hsa05017  Spinocerebellar ataxia
hsa05020  Prion disease
hsa05022  Pathways of neurodegeneration - multiple diseases
Network
nt06465  Prion disease
nt06466  Pathways of neurodegeneration
nt06528  Calcium signaling
  Element
N01199  Scrapie conformation PrPSc to mGluR5-Ca2+ -apoptotic pathway
N01638  Skeletal-type VGCC-RYR signaling
N01649  Ca2+/CAM-VGCC/RYR signaling pathway
Disease
H00699  Central core disease
H01310  Multi-minicore disease
H01810  Congenital myopathy
H02646  Malignant hyperthermia
Drug target
Aladorian (DG02040): D10304 D10305
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04371 Apelin signaling pathway
    6261 (RYR1)
   04020 Calcium signaling pathway
    6261 (RYR1)
 09150 Organismal Systems
  09152 Endocrine system
   04921 Oxytocin signaling pathway
    6261 (RYR1)
  09156 Nervous system
   04730 Long-term depression
    6261 (RYR1)
  09159 Environmental adaptation
   04713 Circadian entrainment
    6261 (RYR1)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05017 Spinocerebellar ataxia
    6261 (RYR1)
   05020 Prion disease
    6261 (RYR1)
   05022 Pathways of neurodegeneration - multiple diseases
    6261 (RYR1)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01009 Protein phosphatases and associated proteins [BR:hsa01009]
    6261 (RYR1)
  09183 Protein families: signaling and cellular processes
   04147 Exosome [BR:hsa04147]
    6261 (RYR1)
   04040 Ion channels [BR:hsa04040]
    6261 (RYR1)
Protein phosphatases and associated proteins [BR:hsa01009]
 Protein serine/threonine phosphatases
  Phosphoprotein phosphatases (PPPs)
   Protein phosphatase-1
    PP1-interacting proteins (PIPs)
     6261 (RYR1)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of other body fluids (saliva and urine)
   6261 (RYR1)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Ryanodine receptor
   6261 (RYR1)
SSDB
Motif
Pfam: RYDR_Jsol RYDR_ITPR RyR RR_TM4-6 SPRY Ins145_P3_rec MIR RIH_assoc Ion_trans EF-hand_7
Other DBs
NCBI-GeneID: 6261
NCBI-ProteinID: NP_000531
OMIM: 180901
HGNC: 10483
Ensembl: ENSG00000196218
UniProt: P21817
Structure
LinkDB
Position
19:38433691..38587564
AA seq 5038 aa
MGDAEGEDEVQFLRTDDEVVLQCSATVLKEQLKLCLAAEGFGNRLCFLEPTSNAQNVPPD
LAICCFVLEQSLSVRALQEMLANTVEAGVESSQGGGHRTLLYGHAILLRHAHSRMYLSCL
TTSRSMTDKLAFDVGLQEDATGEACWWTMHPASKQRSEGEKVRVGDDIILVSVSSERYLH
LSTASGELQVDASFMQTLWNMNPICSRCEEGFVTGGHVLRLFHGHMDECLTISPADSDDQ
RRLVYYEGGAVCTHARSLWRLEPLRISWSGSHLRWGQPLRVRHVTTGQYLALTEDQGLVV
VDASKAHTKATSFCFRISKEKLDVAPKRDVEGMGPPEIKYGESLCFVQHVASGLWLTYAA
PDPKALRLGVLKKKAMLHQEGHMDDALSLTRCQQEESQAARMIHSTNGLYNQFIKSLDSF
SGKPRGSGPPAGTALPIEGVILSLQDLIIYFEPPSEDLQHEEKQSKLRSLRNRQSLFQEE
GMLSMVLNCIDRLNVYTTAAHFAEFAGEEAAESWKEIVNLLYELLASLIRGNRSNCALFS
TNLDWLVSKLDRLEASSGILEVLYCVLIESPEVLNIIQENHIKSIISLLDKHGRNHKVLD
VLCSLCVCNGVAVRSNQDLITENLLPGRELLLQTNLINYVTSIRPNIFVGRAEGTTQYSK
WYFEVMVDEVTPFLTAQATHLRVGWALTEGYTPYPGAGEGWGGNGVGDDLYSYGFDGLHL
WTGHVARPVTSPGQHLLAPEDVISCCLDLSVPSISFRINGCPVQGVFESFNLDGLFFPVV
SFSAGVKVRFLLGGRHGEFKFLPPPGYAPCHEAVLPRERLHLEPIKEYRREGPRGPHLVG
PSRCLSHTDFVPCPVDTVQIVLPPHLERIREKLAENIHELWALTRIEQGWTYGPVRDDNK
RLHPCLVDFHSLPEPERNYNLQMSGETLKTLLALGCHVGMADEKAEDNLKKTKLPKTYMM
SNGYKPAPLDLSHVRLTPAQTTLVDRLAENGHNVWARDRVGQGWSYSAVQDIPARRNPRL
VPYRLLDEATKRSNRDSLCQAVRTLLGYGYNIEPPDQEPSQVENQSRCDRVRIFRAEKSY
TVQSGRWYFEFEAVTTGEMRVGWARPELRPDVELGADELAYVFNGHRGQRWHLGSEPFGR
PWQPGDVVGCMIDLTENTIIFTLNGEVLMSDSGSETAFREIEIGDGFLPVCSLGPGQVGH
LNLGQDVSSLRFFAICGLQEGFEPFAINMQRPVTTWFSKGLPQFEPVPLEHPHYEVSRVD
GTVDTPPCLRLTHRTWGSQNSLVEMLFLRLSLPVQFHQHFRCTAGATPLAPPGLQPPAED
EARAAEPDPDYENLRRSAGGWSEAENGKEGTAKEGAPGGTPQAGGEAQPARAENEKDATT
EKNKKRGFLFKAKKVAMMTQPPATPTLPRLPHDVVPADNRDDPEIILNTTTYYYSVRVFA
GQEPSCVWAGWVTPDYHQHDMSFDLSKVRVVTVTMGDEQGNVHSSLKCSNCYMVWGGDFV
SPGQQGRISHTDLVIGCLVDLATGLMTFTANGKESNTFFQVEPNTKLFPAVFVLPTHQNV
IQFELGKQKNIMPLSAAMFQSERKNPAPQCPPRLEMQMLMPVSWSRMPNHFLQVETRRAG
ERLGWAVQCQEPLTMMALHIPEENRCMDILELSERLDLQRFHSHTLRLYRAVCALGNNRV
AHALCSHVDQAQLLHALEDAHLPGPLRAGYYDLLISIHLESACRSRRSMLSEYIVPLTPE
TRAITLFPPGRSTENGHPRHGLPGVGVTTSLRPPHHFSPPCFVAALPAAGAAEAPARLSP
AIPLEALRDKALRMLGEAVRDGGQHARDPVGGSVEFQFVPVLKLVSTLLVMGIFGDEDVK
QILKMIEPEVFTEEEEEEDEEEEGEEEDEEEKEEDEEETAQEKEDEEKEEEEAAEGEKEE
GLEEGLLQMKLPESVKLQMCHLLEYFCDQELQHRVESLAAFAERYVDKLQANQRSRYGLL
IKAFSMTAAETARRTREFRSPPQEQINMLLQFKDGTDEEDCPLPEEIRQDLLDFHQDLLA
HCGIQLDGEEEEPEEETTLGSRLMSLLEKVRLVKKKEEKPEEERSAEESKPRSLQELVSH
MVVRWAQEDFVQSPELVRAMFSLLHRQYDGLGELLRALPRAYTISPSSVEDTMSLLECLG
QIRSLLIVQMGPQEENLMIQSIGNIMNNKVFYQHPNLMRALGMHETVMEVMVNVLGGGES
KEIRFPKMVTSCCRFLCYFCRISRQNQRSMFDHLSYLLENSGIGLGMQGSTPLDVAAASV
IDNNELALALQEQDLEKVVSYLAGCGLQSCPMLVAKGYPDIGWNPCGGERYLDFLRFAVF
VNGESVEENANVVVRLLIRKPECFGPALRGEGGSGLLAAIEEAIRISEDPARDGPGIRRD
RRREHFGEEPPEENRVHLGHAIMSFYAALIDLLGRCAPEMHLIQAGKGEALRIRAILRSL
VPLEDLVGIISLPLQIPTLGKDGALVQPKMSASFVPDHKASMVLFLDRVYGIENQDFLLH
VLDVGFLPDMRAAASLDTATFSTTEMALALNRYLCLAVLPLITKCAPLFAGTEHRAIMVD
SMLHTVYRLSRGRSLTKAQRDVIEDCLMSLCRYIRPSMLQHLLRRLVFDVPILNEFAKMP
LKLLTNHYERCWKYYCLPTGWANFGVTSEEELHLTRKLFWGIFDSLAHKKYDPELYRMAM
PCLCAIAGALPPDYVDASYSSKAEKKATVDAEGNFDPRPVETLNVIIPEKLDSFINKFAE
YTHEKWAFDKIQNNWSYGENIDEELKTHPMLRPYKTFSEKDKEIYRWPIKESLKAMIAWE
WTIEKAREGEEEKTEKKKTRKISQSAQTYDPREGYNPQPPDLSAVTLSRELQAMAEQLAE
NYHNTWGRKKKQELEAKGGGTHPLLVPYDTLTAKEKARDREKAQELLKFLQMNGYAVTRG
LKDMELDSSSIEKRFAFGFLQQLLRWMDISQEFIAHLEAVVSSGRVEKSPHEQEIKFFAK
ILLPLINQYFTNHCLYFLSTPAKVLGSGGHASNKEKEMITSLFCKLAALVRHRVSLFGTD
APAVVNCLHILARSLDARTVMKSGPEIVKAGLRSFFESASEDIEKMVENLRLGKVSQART
QVKGVGQNLTYTTVALLPVLTTLFQHIAQHQFGDDVILDDVQVSCYRTLCSIYSLGTTKN
TYVEKLRPALGECLARLAAAMPVAFLEPQLNEYNACSVYTTKSPRERAILGLPNSVEEMC
PDIPVLERLMADIGGLAESGARYTEMPHVIEITLPMLCSYLPRWWERGPEAPPSALPAGA
PPPCTAVTSDHLNSLLGNILRIIVNNLGIDEASWMKRLAVFAQPIVSRARPELLQSHFIP
TIGRLRKRAGKVVSEEEQLRLEAKAEAQEGELLVRDEFSVLCRDLYALYPLLIRYVDNNR
AQWLTEPNPSAEELFRMVGEIFIYWSKSHNFKREEQNFVVQNEINNMSFLTADNKSKMAK
AGDIQSGGSDQERTKKKRRGDRYSVQTSLIVATLKKMLPIGLNMCAPTDQDLITLAKTRY
ALKDTDEEVREFLHNNLHLQGKVEGSPSLRWQMALYRGVPGREEDADDPEKIVRRVQEVS
AVLYYLDQTEHPYKSKKAVWHKLLSKQRRRAVVACFRMTPLYNLPTHRACNMFLESYKAA
WILTEDHSFEDRMIDDLSKAGEQEEEEEEVEEKKPDPLHQLVLHFSRTALTEKSKLDEDY
LYMAYADIMAKSCHLEEGGENGEAEEEVEVSFEEKQMEKQRLLYQQARLHTRGAAEMVLQ
MISACKGETGAMVSSTLKLGISILNGGNAEVQQKMLDYLKDKKEVGFFQSIQALMQTCSV
LDLNAFERQNKAEGLGMVNEDGTVINRQNGEKVMADDEFTQDLFRFLQLLCEGHNNDFQN
YLRTQTGNTTTINIIICTVDYLLRLQESISDFYWYYSGKDVIEEQGKRNFSKAMSVAKQV
FNSLTEYIQGPCTGNQQSLAHSRLWDAVVGFLHVFAHMMMKLAQDSSQIELLKELLDLQK
DMVVMLLSLLEGNVVNGMIARQMVDMLVESSSNVEMILKFFDMFLKLKDIVGSEAFQDYV
TDPRGLISKKDFQKAMDSQKQFSGPEIQFLLSCSEADENEMINCEEFANRFQEPARDIGF
NVAVLLTNLSEHVPHDPRLHNFLELAESILEYFRPYLGRIEIMGASRRIERIYFEISETN
RAQWEMPQVKESKRQFIFDVVNEGGEAEKMELFVSFCEDTIFEMQIAAQISEPEGEPETD
EDEGAGAAEAGAEGAEEGAAGLEGTAATAAAGATARVVAAAGRALRGLSYRSLRRRVRRL
RRLTAREAATAVAALLWAAVTRAGAAGAGAAAGALGLLWGSLFGGGLVEGAKKVTVTELL
AGMPDPTSDEVHGEQPAGPGGDADGEGASEGAGDAAEGAGDEEEAVHEAGPGGADGAVAV
TDGGPFRPEGAGGLGDMGDTTPAEPPTPEGSPILKRKLGVDGVEEELPPEPEPEPEPELE
PEKADAENGEKEEVPEPTPEPPKKQAPPSPPPKKEEAGGEFWGELEVQRVKFLNYLSRNF
YTLRFLALFLAFAINFILLFYKVSDSPPGEDDMEGSAAGDVSGAGSGGSSGWGLGAGEEA
EGDEDENMVYYFLEESTGYMEPALRCLSLLHTLVAFLCIIGYNCLKVPLVIFKREKELAR
KLEFDGLYITEQPEDDDVKGQWDRLVLNTPSFPSNYWDKFVKRKVLDKHGDIYGRERIAE
LLGMDLATLEITAHNERKPNPPPGLLTWLMSIDVKYQIWKFGVIFTDNSFLYLGWYMVMS
LLGHYNNFFFAAHLLDIAMGVKTLRTILSSVTHNGKQLVMTVGLLAVVVYLYTVVAFNFF
RKFYNKSEDEDEPDMKCDDMMTCYLFHMYVGVRAGGGIGDEIEDPAGDEYELYRVVFDIT
FFFFVIVILLAIIQGLIIDAFGELRDQQEQVKEDMETKCFICGIGSDYFDTTPHGFETHT
LEEHNLANYMFFLMYLINKDETEHTGQESYVWKMYQERCWDFFPAGDCFRKQYEDQLS
NT seq 15117 nt   +upstreamnt  +downstreamnt
atgggtgacgcagaaggcgaagacgaggtccagttcctgcggacggacgatgaggtggtc
ctgcagtgcagcgctaccgtgctcaaggagcagctcaagctctgcctggccgccgagggc
ttcggcaaccgcctgtgcttcctggagcccactagcaacgcgcagaatgtgccccccgat
ctggccatctgttgcttcgtcctggagcagtccctgtctgtgcgagccctgcaggagatg
ctggctaacacggtggaggctggcgtggagtcatcccagggcgggggacacaggacgctc
ctgtatggccatgccatcctgctccggcatgcacacagccgcatgtatctgagctgcctc
accacctcccgctccatgactgacaagctggccttcgatgtgggactgcaggaggacgca
acaggagaggcttgctggtggaccatgcacccagcctccaagcagaggtctgaaggagaa
aaggtccgcgttggggatgacatcatccttgtcagtgtctcctccgagcgctacctgcac
ctgtcgaccgccagtggggagctccaggttgacgcttccttcatgcagacactatggaac
atgaaccccatctgctcccgctgcgaagagggcttcgtgacgggaggtcacgtcctccgc
ctctttcatggacatatggatgagtgtctgaccatttcccctgctgacagtgatgaccag
cgcagacttgtctactatgaggggggagctgtgtgcactcatgcccgctccctctggagg
ctggagccactgagaatcagctggagtgggagccacctgcgctggggccagccactccga
gtccggcatgtcactaccgggcagtacctagcgctcaccgaggaccagggcctggtggtg
gttgacgccagcaaggctcacaccaaggctacctccttctgcttccgcatctccaaggag
aagctggatgtggcccccaagcgggatgtggagggcatgggcccccctgagatcaagtac
ggggagtcactgtgcttcgtgcagcatgtggcctcaggactgtggctcacctatgctgct
ccagaccccaaggccctgcggctcggcgtgctcaagaagaaggccatgctgcaccaggag
ggccacatggacgacgcactgtcgctgacccgctgccagcaggaggagtcccaggccgcc
cgcatgatccacagcaccaatggcctatacaaccagttcatcaagagcctggacagcttc
agcgggaagccacggggctcggggccacccgctggcacggcgctgcccatcgagggcgtt
atcctgagcctgcaggacctcatcatctacttcgagcctccctccgaggacttgcagcac
gaggagaagcagagcaagctgcgaagcctgcgcaaccgccagagcctcttccaggaggag
gggatgctctccatggtcctgaattgcatagaccgcctaaatgtctacaccactgctgcc
cactttgctgagtttgcaggggaggaggcagccgagtcctggaaagagattgtgaatctt
ctctatgaactcctagcttctctaatccgtggcaatcgtagcaactgtgccctcttctcc
acaaacttggactggctggtcagcaagctggatcggctggaggcctcgtctggcatcctg
gaggtcctgtactgtgtcctcattgagagtccagaggttctgaacatcatccaggagaat
cacatcaagtccatcatctccctcctggacaagcatgggaggaaccacaaggtcctggac
gtgctatgctccctgtgtgtgtgtaatggtgtggctgtacgctccaaccaagatcttatt
actgagaacttgctgcctggccgtgagcttctgctgcagacaaacctcatcaactatgtc
accagcatccgccccaacatctttgtgggccgagcggaaggcaccacgcagtacagcaaa
tggtactttgaggtgatggtggacgaggtgactccatttctgacagctcaggccacccac
ttgcgggtgggctgggccctcaccgagggctacaccccctaccctggggccggcgagggc
tggggcggcaacggggtcggcgatgacctctattcctacggctttgatggactgcatctc
tggacaggacacgtggcacgcccagtgacttccccagggcagcacctcctggcccctgaa
gacgtgatcagctgctgcctggacctcagcgtgccgtccatctccttccgcatcaacggc
tgccccgtgcagggtgtctttgagtccttcaacctggacgggctcttcttccctgttgtc
agcttctcggctggtgtcaaggtgcggttcctccttggtggccgccatggtgaattcaag
ttcctgcccccacctggctatgctccatgccatgaggctgtgctccctcgagagcgactc
catcttgaacccatcaaggagtatcgacgggaggggccccgggggcctcacctggtgggc
cccagtcgctgcctctcacacaccgacttcgtgccctgccctgtggacactgtccagatt
gtcctgccgccccatctggagcgcattcgggagaagctggcggagaacatccacgagctc
tgggcgctaacccgcatcgagcagggctggacctacggcccggttcgggatgacaacaag
aggctgcacccgtgtcttgtggacttccacagccttccagagcctgagaggaactacaac
ctgcagatgtctggggagacgctcaagactctgctggctctgggctgccacgtgggcatg
gcggatgagaaggcggaggacaacctgaagaagacaaaactccccaagacgtatatgatg
agcaatgggtacaagccggctccgctggacctgagccacgtgcggctgacgccggcgcag
acgacactggtggaccgtctggcagaaaatgggcacaacgtgtgggcccgagaccgcgtg
ggccagggctggagctacagcgcagtgcaggacatcccagcgcgccgaaaccctcggctg
gtgccctaccgcctgctggatgaagccaccaagcgcagcaaccgggacagcctctgccag
gccgtgcgcaccctcctgggctacggctacaacatcgagcctcctgaccaggagcccagt
caggtggagaaccagtctcgttgtgaccgggtgcgcatcttccgggcagagaaatcctat
acagtgcagagcggccgctggtacttcgagtttgaagcagtcaccacaggcgagatgcgc
gtgggctgggcgaggcccgagctgaggcctgatgtagagctgggagctgacgagctggcc
tatgtcttcaatgggcaccgcggccagcgctggcacttgggcagtgaaccatttgggcgc
ccctggcagccgggcgatgtcgttggctgtatgatcgacctcacagagaacaccattatc
ttcaccctcaatggcgaggtcctcatgtctgactcaggctccgaaacagccttccgggag
attgagattggggacggcttcctgcccgtctgcagcttgggacctggccaggtgggtcat
ctgaacctgggccaggacgtgagctctctgaggttctttgccatctgtggcctccaggaa
ggcttcgagccatttgccatcaacatgcagcgcccagtcaccacctggttcagcaaaggc
ctgccccagtttgagccagtgccccttgaacaccctcactatgaggtatcccgagtggac
ggcactgtggacacgcccccctgcctgcgcctgacccaccgcacctggggctcccagaac
agcctggtggagatgcttttcctgcggctgagcctcccagtccagttccaccagcacttc
cgctgcactgcaggggccaccccgctggcacctcctggcctgcagccccccgccgaggac
gaggcccgggcggcggaacccgaccctgactacgaaaacctgcgccgctcagctgggggc
tggagcgaggcagagaacggcaaagaagggactgcgaaggagggcgcccccgggggcacc
ccgcaggcggggggagaggcgcagcccgccagggcggagaatgagaaggatgccaccacc
gagaagaacaagaagagaggcttcttattcaaggccaagaaggtcgccatgatgacccag
ccaccggccacccccacgctgccccgactccctcacgacgtggtgcctgcagacaaccgc
gatgaccccgagatcatcctcaacaccaccacgtactattactccgtgagggtctttgct
ggacaggagcccagctgcgtgtgggcgggctgggtcacccctgactaccatcagcacgac
atgagcttcgacctcagcaaggtccgggtcgtgacggtgaccatgggggatgaacaaggc
aacgtccacagcagcctcaagtgtagcaactgctacatggtgtggggcggagactttgtg
agtcccgggcagcagggccggatcagccacacggaccttgtcattgggtgcctggtggac
ttggccactggcttaatgacctttacagccaatggcaaagagagcaacacctttttccag
gtggaacccaacactaagctatttcctgccgtcttcgtcctgcccacccaccagaacgtc
atccagtttgagctggggaagcagaagaacatcatgccgttgtcagccgccatgttccaa
agcgagcgcaagaacccggccccgcagtgcccaccgcggctggagatgcagatgctgatg
ccagtgtcctggagccgcatgcccaaccacttcctgcaggtggagacgaggcgtgccggc
gagcggctgggctgggccgtgcagtgccaggagccgctgaccatgatggcgctgcacatc
cccgaggagaaccggtgcatggacatcctggagctgtcggagcgcctggacctgcagcgc
ttccactcgcacaccctgcgcctctaccgcgctgtgtgcgccctgggcaacaatcgcgtg
gcgcacgctctgtgcagccacgtagaccaagctcagctgctgcacgccctggaggacgcg
cacctgccaggcccactgcgcgcaggctactatgacctcctcatcagcatccacctcgaa
agtgcctgccgcagccgccgctccatgctctctgaatacatcgtgcccctcacgcctgag
acccgcgccatcacgctcttccctcctggaaggagcacagaaaatggtcacccccggcat
ggcctgccgggagttggagtcaccacttcgctgaggcccccgcatcatttctcgcccccc
tgtttcgtggccgctctgccagctgctggggcagcagaggccccggcccgcctcagccct
gccatcccgctggaggccctgcgggacaaggcactgaggatgctgggggaggcggtgcgc
gacggtgggcagcacgctcgcgaccccgtcgggggctccgtggagttccagtttgtgcct
gtgctcaagctcgtgtccaccctgctggtgatgggcatctttggcgatgaggatgtgaaa
cagatcttgaagatgattgagcctgaggtcttcactgaggaagaagaggaggaggacgag
gaggaagagggtgaagaggaagatgaggaggagaaggaggaggatgaggaggaaacagca
caggaaaaggaagatgaggaaaaagaggaagaggaggcagcagaaggggagaaagaagaa
ggcttggaggaagggctgctccagatgaagttgccagagtctgtgaagttacagatgtgc
cacctgctggagtatttctgtgaccaagagctgcagcaccgtgtggagtccctggcagcc
tttgcggagcgctatgtggacaagctccaggccaaccagcggagccgctatggcctcctc
ataaaagccttcagcatgaccgcagcagagactgcaagacgtacccgcgagttccgctcc
ccaccccaggaacagatcaatatgctattgcaattcaaagatggtacagatgaggaagac
tgtcctctccctgaagagattcgacaggatttgcttgactttcatcaagacctgctggca
cactgtggaattcagctagatggagaggaggaggaaccagaggaagagaccaccctgggc
agccgcctcatgagcctgttggagaaagtgcggctggtgaagaagaaggaagagaaacct
gaggaggagcggtcagcagaggagagcaaaccccggtccctgcaggagctggtgtcccac
atggtggtgcgctgggcccaagaggacttcgtgcagagccccgagctggtgcgggccatg
ttcagcctcctgcaccggcagtacgacgggctgggtgagctgctgcgtgccctgccgcgg
gcgtacaccatctcaccgtcctccgtggaagacaccatgagcctgctcgagtgcctcggc
cagatccgctcgctgctcatcgtgcagatgggcccccaggaggagaacctcatgatccag
agcatcgggaacatcatgaacaacaaagtcttctaccaacacccgaacctgatgagggcg
ctgggcatgcacgagacggtcatggaggtcatggtcaacgtcctcgggggcggcgagtcc
aaggagatccgcttccccaagatggtgacaagctgctgccgcttcctctgctatttctgc
cgaatcagccggcagaaccagcgctccatgtttgaccacctgagctacctgctggagaac
agtggcatcggcctgggcatgcagggctccacgcccctggacgtggctgctgcctccgtc
attgacaacaatgagctggccttggcattgcaggagcaggacctggaaaaggttgtgtcc
tacctggcaggctgtggcctccagagctgccccatgcttgtggccaaagggtacccagac
attggctggaacccctgtggtggagagcgctacctggacttcctgcgctttgctgtcttc
gtcaacggcgagagcgtggaggagaacgccaatgtggtggtgcggctgctcatccggaag
cctgagtgcttcggacccgccctgcggggtgagggtggctcagggctgctggctgccatc
gaagaggccatccgcatctccgaggaccctgcgagggatggcccaggcatccgcagggac
cggcggcgcgagcactttggtgaggaaccgcctgaagaaaaccgggtgcacctgggacac
gccatcatgtccttctatgccgccttgatcgacctgctcggacgctgtgcaccagagatg
catctaatccaagccggcaagggtgaggccctgcggatccgcgccatcctccgctccctt
gtgcccttggaggaccttgtgggcatcatcagcctcccactgcagattcccaccctgggc
aaagatggggctctggtgcagccaaagatgtcagcatccttcgtgccggaccacaaggcg
tccatggtgctcttcctggaccgtgtgtatggcatcgagaaccaggacttcttgctgcac
gtgctggacgtggggttcctgcccgacatgagggcagccgcctcgctggacacggccact
ttcagcaccaccgagatggcgctggcgctgaaccgctacctgtgcctggccgtgctgccg
ctcatcaccaagtgtgcgccgctctttgcgggcacagaacaccgcgccatcatggtggac
tctatgctgcataccgtgtaccgcctgtctcggggtcgttcgctcaccaaggcgcagcgt
gacgtcatcgaggactgcctcatgtcgctctgcaggtacatccgcccgtcgatgctgcag
cacctgttgcgccgcctggtgttcgacgtgcccatcctcaacgagttcgccaagatgcca
ctcaagctcctcaccaaccactatgagcgctgttggaagtactactgcctacccacgggc
tgggccaacttcggggtcacctcagaggaggagctgcacctcacacggaaactcttctgg
ggcatctttgactctctggcccataagaaatacgacccggagctgtaccgcatggccatg
ccttgtctgtgcgccattgccggggctctgccccccgactatgtggatgcctcatactca
tctaaggcagagaaaaaggccacagtggatgctgaaggcaactttgatccccggcctgtg
gagaccctcaatgtgatcatcccggagaagctggactccttcattaacaagtttgcggag
tacacacacgagaagtgggccttcgacaagatccagaacaactggtcctatggagagaac
atagacgaggagctgaagacccaccccatgctgaggccctacaagaccttttcagagaag
gacaaagagatttaccgctggcccatcaaggagtccctgaaggccatgattgcctgggaa
tggacgatagagaaggccagggagggtgaggaggagaagacggaaaagaaaaaaacgcgg
aagatatcacaaagtgcccagacctatgatcctcgagaaggctacaaccctcagcccccc
gaccttagtgctgttaccctgtcccgggagctgcaggccatggcagaacaactggcagaa
aattaccacaacacgtggggacggaagaagaagcaggagctggaagccaaaggcggtggg
acccaccccctgctggtcccctacgacacgctcacggccaaggagaaggcacgagatcga
gagaaggcccaggagctactgaaattcctgcagatgaatggctacgcggttacaagaggc
cttaaggacatggaactggactcgtcttccattgaaaagcggtttgcctttggcttcctg
cagcagctgctgcgctggatggacatttctcaggagttcattgcccacctggaggctgtg
gtcagcagtgggcgagtggaaaagtccccacatgaacaggagattaaattctttgccaag
atcctgctccctttgatcaaccagtacttcaccaaccactgcctctatttcttgtccact
ccggctaaagtgctgggcagcggtggccacgcctctaacaaggagaaggaaatgatcacc
agcctcttctgcaaacttgctgctctcgtccgccaccgagtctctctctttgggacagac
gccccagctgtggtcaactgtcttcacatcctggcccgctccctggatgccaggacagtg
atgaagtcaggccctgagatcgtgaaggctggcctccgctccttcttcgagagtgcctcg
gaggacatcgagaagatggtggagaacctgcggctgggcaaggtgtcgcaggcgcgcacc
caggtgaaaggcgtgggccagaacctcacctacaccactgtggcactgctgccggtcctc
accaccctcttccagcacatcgcccagcaccagttcggagatgacgtcatcctggacgac
gtccaggtctcttgctaccgaacgctgtgcagtatctactccctgggaaccaccaagaac
acttatgtggaaaagcttcggccagccctcggggagtgcctggcccgtctggcagcagcc
atgccggtggcgttcctggagccgcagctgaacgagtacaacgcctgctccgtgtacacc
accaagtctccgcgggagcgggccatcctggggctccccaacagtgtggaggagatgtgt
cccgacatcccggtgctggagcggctcatggcagacattggggggctggccgagtcaggt
gcccgctacacagagatgccgcatgtcatcgagatcacgctgcccatgctatgcagctac
ctgccccgatggtgggagcgcgggcccgaggcacccccttccgccctgcccgccggcgcc
cccccaccctgcacagctgtcacctctgaccacctcaactccctgctggggaatatcctg
agaatcatcgtcaacaacctgggcattgacgaggcctcctggatgaagcggctggctgtg
ttcgcacagcccattgtgagccgtgcacggccggagctcctgcagtcccacttcatccca
actatcgggcggctgcgcaagagggcagggaaggtggtgtccgaggaggagcagctgcgc
ctggaggccaaggcggaggcccaggagggcgagctgctggtgcgggacgagttctctgtg
ctctgccgggacctctacgccctgtatccgctgctcatccgctacgtggacaacaacagg
gcgcagtggctgacggagccgaatcccagcgcggaggagctgttcaggatggtgggcgag
atcttcatctactggtccaagtcccacaacttcaagcgcgaggagcagaactttgtggtc
cagaatgagatcaacaacatgtccttcctgactgctgacaacaaaagcaaaatggctaag
gcgggagatatacagtccggtggctcggaccaggaacgcaccaagaagaagcgccggggg
gaccggtactctgtgcagacgtcactgatcgtggccacactgaagaagatgctgcccatc
ggcctgaatatgtgtgcgcccaccgaccaagacctcatcacgctggccaagacccgttac
gccctgaaagacacagatgaggaggtccgggaatttctgcacaacaaccttcaccttcag
ggaaaggtcgaaggctccccgtctctgcgctggcagatggctctgtaccggggcgtcccg
ggtcgcgaggaggacgccgatgaccccgagaaaatcgtgcgcagagtccaggaagtgtca
gccgtgctctactacctggaccagaccgagcacccttacaagtctaagaaggccgtgtgg
cacaagcttttgtccaaacagcgccggcgggcagtcgtggcctgtttccgtatgacgccc
ctgtacaacctgcccacgcaccgggcatgtaacatgttcctggagagctacaaggctgca
tggatcctgactgaagaccacagttttgaggaccgcatgatagatgacctttcaaaagct
ggggagcaggaggaggaggaggaagaggtggaagagaagaagccagaccccctgcaccag
ttggtcctgcacttcagccgcactgccctgacggaaaagagcaaactggatgaggattac
ctgtacatggcctatgctgatatcatggcaaagagctgccacctggaggagggaggggag
aacggtgaagctgaagaggaggttgaggtctcctttgaggagaaacagatggagaagcag
aggctcttgtaccagcaagcacggctgcacacccggggggcggccgagatggtgctgcag
atgatcagtgcctgcaaaggagagacaggtgccatggtgtcctccaccctgaagctgggc
atctccatcctcaatggaggcaatgctgaggtccagcagaaaatgctggattatcttaag
gacaagaaggaagttggcttcttccagagtatccaggcactgatgcaaacatgcagcgtc
ctggatctcaatgcctttgagagacagaacaaggccgaggggctgggcatggtgaatgag
gatggcactgtcatcaatcgccagaacggagagaaggtcatggcggatgatgaattcaca
caagacctgttccgattcctacaattgctctgtgaggggcacaataatgatttccagaac
tacctacggacacagacagggaacacgaccactattaacatcatcatttgcactgtggac
tacctcctgcggctgcaggaatccatcagcgacttctactggtactactcgggcaaggat
gtcattgaagagcagggcaagaggaacttctccaaagccatgtcggtggctaagcaggtg
ttcaacagcctcactgagtacatccagggtccctgcaccgggaaccagcagagcctggcg
cacagtcgcctatgggacgcagtggtgggattcctgcacgtgttcgcccacatgatgatg
aagctcgctcaggactcaagccagatcgagctgctgaaggagctgctggatctgcagaag
gacatggtggtgatgttgctgtcgctactagaagggaacgtggtgaacggcatgatcgcc
cggcagatggtggacatgctcgtggaatcctcatccaatgtggagatgatcctcaagttc
ttcgacatgttcctgaaactcaaggacattgtgggctctgaagccttccaggactacgta
acggatccccgtggcctcatctccaagaaggacttccagaaggccatggacagccagaag
cagttcagcggtccagaaatccagttcctgctttcgtgctccgaagcggatgagaacgaa
atgatcaactgcgaagagttcgccaaccgcttccaggagccagcacgcgacatcggcttc
aacgtggcggtgctgctgaccaacctgtcggagcatgtgccgcatgaccctcgcctgcac
aacttcctggagctggccgagagcatccttgagtacttccgcccctacctgggccgcatc
gagatcatgggcgcgtcacgccgcatcgagcgcatctacttcgagatctcagagaccaac
cgcgcccagtgggagatgccccaggtgaaggagtccaagcgccagttcatcttcgacgtg
gtgaacgagggcggcgaggctgagaagatggagctcttcgtgagtttctgcgaggacacc
atcttcgagatgcagatcgccgcgcagatctcggagcccgagggcgagccggagaccgac
gaggacgagggcgcgggcgcggcggaggcgggcgcggaaggcgcggaggagggcgcggcg
gggctcgagggcacggcggccacggcggcggcgggggcgacggcgcgggttgtggcggcc
gcaggccgggccctgcgaggcctcagctaccgcagcctgcggcggcgcgtgcggcggctg
cggcggcttacggcccgcgaggcggccaccgcagtggcggcgctgctctgggcagcagtg
acgcgcgctggggccgctggcgcgggggcggcggcgggcgcgctgggcctgctctggggc
tcgctgttcggcggcggcctggtggagggcgccaagaaggtgacggtgaccgagctcctg
gcaggcatgcccgaccccaccagcgacgaggtgcacggcgagcagccggccgggccgggc
ggagacgcagacggcgagggtgccagcgagggcgctggagacgccgcggagggcgctgga
gacgaggaggaggcggtgcacgaggccgggccgggcggtgccgacggggcggtggccgtg
accgatgggggccccttccggcccgaaggggctggcggtctcggggacatgggggacacg
acgcctgcggaaccgcccacacccgagggctctcccatcctcaagaggaaattgggggtg
gatggagtggaggaggagctcccgccagagccagagcccgagccggaaccagagctggag
ccggagaaagccgatgccgagaatggggagaaggaagaagttcccgagcccacaccagag
ccccccaagaagcaagcacctccctcaccccctccaaagaaggaggaagctggaggcgaa
ttctggggagaactggaggtgcagagggtgaagttcctgaactacctgtcccggaacttt
tacaccctgcggttccttgccctcttcttggcatttgccatcaacttcatcttgctgttt
tataaggtctcagactctccaccaggggaggacgacatggaaggctcagctgctggggat
gtgtcaggtgcaggctctggtggcagctctggctggggcttgggggccggagaggaggca
gagggcgatgaggatgagaacatggtgtactacttcctggaggaaagcacaggctacatg
gaacccgccctgcggtgtctgagcctcctgcatacactggtggcctttctctgcatcatt
ggctataattgtctcaaggtgcccctggtaatctttaagcgggagaaggagctggcccgg
aagctggagtttgatggcctgtacatcacggagcagcctgaggacgatgacgtgaagggg
cagtgggaccgactggtgctcaacacgccgtctttccctagcaactactgggacaagttt
gtcaagcgcaaggtcctggacaaacatggggacatctacgggcgggagcggattgctgag
ctactgggcatggacctggccacactagagatcacagcccacaatgagcgcaagcccaac
ccgccgccagggctgctgacctggctcatgtccatcgatgtcaagtaccagatctggaag
ttcggggtcatcttcacagacaactccttcctgtacctgggctggtatatggtgatgtcc
ctcttgggacactacaacaacttcttctttgctgcccatctcctggacatcgccatgggg
gtcaagacgctgcgcaccatcctgtcctctgtcacccacaatgggaaacagctggtgatg
accgtgggccttctggcggtggtcgtctacctgtacaccgtggtggccttcaacttcttc
cgcaagttctacaacaagagcgaggatgaggatgaacctgacatgaagtgtgatgacatg
atgacgtgttacctgtttcacatgtacgtgggtgtccgggctggcggaggcattggggac
gagatcgaggaccccgcgggtgacgaatacgagctctacagggtggtcttcgacatcacc
ttcttcttcttcgtcatcgtcatcctgttggccatcatccagggtctgatcatcgacgct
tttggtgagctccgagaccaacaagagcaagtgaaggaggatatggagaccaagtgcttc
atctgtggaatcggcagtgactactttgatacgacaccgcatggcttcgagactcacacg
ctggaggagcacaacctggccaattacatgtttttcctgatgtatttgataaacaaggat
gagacagaacacacgggtcaggagtcttatgtctggaagatgtaccaagagagatgttgg
gatttcttcccagctggtgattgtttccgtaagcagtatgaggaccagcttagctga

KEGG   Homo sapiens (human): 10345
Entry
10345             CDS       T01001                                 
Symbol
TRDN, CARDAR, CPVT5, TDN, TRISK
Name
(RefSeq) triadin
  KO
K23449  triadin
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
    10345 (TRDN)
 09150 Organismal Systems
  09153 Circulatory system
   04260 Cardiac muscle contraction
    10345 (TRDN)
SSDB
Motif
Pfam: Asp-B-Hydro_N
Other DBs
NCBI-GeneID: 10345
NCBI-ProteinID: NP_006064
OMIM: 603283
HGNC: 12261
Ensembl: ENSG00000186439
UniProt: Q13061
LinkDB
Position
6:complement(123216339..123636950)
AA seq 729 aa
MTEITAEGNASTTTTVIDSKNGSVPKSPGKVLKRTVTEDIVTTFSSPAAWLLVIALIITW
SAVAIVMFDLVDYKNFSASSIAKIGSDPLKLVRDAMEETTDWIYGFFSLLSDIISSEDEE
DDDGDEDTDKGEIDEPPLRKKEIHKDKTEKQEKPERKIQTKVTHKEKEKGKEKVREKEKP
EKKATHKEKIEKKEKPETKTLAKEQKKAKTAEKSEEKTKKEVKGGKQEKVKQTAAKVKEV
QKTPSKPKEKEDKEKAAVSKHEQKDQYAFCRYMIDIFVHGDLKPGQSPAIPPPLPTEQAS
RPTPASPALEEKEGEKKKAEKKVTSETKKKEKEDIKKKSEKETAIDVEKKEPGKASETKQ
GTVKIAAQAAAKKDEKKEDSKKTKKPAEVEQPKGKKQEKKEKHVEPAKSPKKEHSVPSDK
QVKAKTERAKEEIGAVSIKKAVPGKKEEKTTKTVEQEIRKEKSGKTSSILKDKEPIKGKE
EKVPASLKEKEPETKKDEKMSKAGKEVKPKPPQLQGKKEEKPEPQIKKEAKPAISEKVQI
HKQDIVKPEKTVSHGKPEEKVLKQVKAVTIEKTAKPKPTKKAEHREREPPSIKTDKPKPT
PKGTSEVTESGKKKTEISEKESKEKADMKHLREEKVSTRKESLQLHNVTKAEKPARVSKD
VEDVPASKKAKEGTEDVSPTKQKSPISFFQCVYLDGYNGYGFQFPFTPADRPGESSGQAN
SPGQKQQGQ
NT seq 2190 nt   +upstreamnt  +downstreamnt
atgactgagatcactgctgaaggaaatgcatctacaaccacaactgtgatagacagcaaa
aatggatctgtgcccaaatcccccggaaaagtgctgaagaggacagtcacagaagacata
gtgacgacgttcagctcccctgcagcctggcttctggtcattgccctgataatcacgtgg
tcagctgttgccatcgttatgtttgatttagtggattacaaaaacttttcagcaagctct
attgccaagattggctcagatcctttaaaactggtacgtgatgctatggaggaaaccacg
gactggatctatggcttcttttctttgttatctgacatcatctcatctgaagatgaagaa
gatgatgatggtgacgaagatactgataaaggagaaatagatgagcctcccttgagaaaa
aaagaaatacacaaagataagactgaaaaacaagagaaacctgaaaggaaaatacaaact
aaagttacacacaaagaaaaagaaaaaggaaaagaaaaagtaagagaaaaagaaaaacct
gaaaagaaagcaactcacaaggaaaaaattgagaaaaaagaaaaaccagaaacaaagaca
ctggcgaaagaacagaagaaagctaagactgcagaaaagagtgaagaaaagactaaaaag
gaagtgaaaggtggaaaacaggagaaagtgaagcaaacagctgcaaaagtaaaagaagta
cagaaaacaccatcaaaacccaaagaaaaggaggacaaagagaaagcagctgtgtcaaag
catgaacagaaagatcagtatgcattctgtcgatatatgattgacatatttgtccatggg
gatttaaaaccaggacaaagcccagccattccacctcccttaccgacagaacaagcttcc
agacccactccggcatcacctgcccttgaagaaaaagaaggggaaaagaagaaggctgag
aagaaagttacttctgaaacaaaaaagaaagaaaaagaagatatcaaaaagaaaagtgag
aaggaaactgccattgatgtggaaaaaaaagagccgggaaaagcttctgaaaccaaacaa
gggactgtaaaaattgcagcacaagcagcagctaagaaggatgaaaagaaggaagattcc
aagaaaacaaaaaaacctgcagaagtagaacaacccaagggaaaaaaacaggaaaagaaa
gaaaaacatgtggaaccagcaaagtcaccaaagaaagaacactcagttccaagtgacaaa
caagtaaaagcaaaaactgaacgagccaaagaggagattggtgcggtttcaattaaaaaa
gctgtacctggaaagaaggaagagaaaacaaccaagacagtggagcaagaaattagaaaa
gaaaaatctgggaagacttcttcaattctgaaagataaagaacctattaaagggaaagaa
gagaaagttccagcttccctaaaggaaaaagaacctgaaactaaaaaagatgaaaagatg
tccaaagcaggcaaagaagtcaagcctaaacctccacaactacaaggaaaaaaggaagag
aagccagagccccaaattaaaaaagaagcaaaaccagctatatctgaaaaagtgcaaata
cacaaacaagacatagtgaaaccagaaaagactgtttctcatggtaaaccagaagaaaaa
gttctcaagcaggtaaaagctgtcacaatagaaaaaacagccaagcccaaaccaacaaaa
aaagctgaacatcgagaaagagaacctccatctataaaaacagacaaaccaaaaccaact
ccaaaaggaacatcagaagtcacagaatcaggaaagaagaaaactgaaatatctgaaaaa
gaaagtaaagaaaaagcagacatgaagcatcttagagaagaaaaagtctcaacaagaaaa
gaaagtcttcaattacacaatgtgacaaaagcagaaaaacctgcaagagtatcaaaagat
gttgaagatgtaccagcttcaaagaaagctaaagaaggaactgaagatgtgtctcccaca
aagcagaaaagtcccatcagtttcttccagtgtgtctacttggatgggtacaatggctat
ggatttcagtttcctttcactcctgcagaccgccctggagagagctctggtcaagcaaat
tctccaggacagaagcaacaaggacagtaa

KEGG   Homo sapiens (human): 444
Entry
444               CDS       T01001                                 
Symbol
ASPH, AAH, BAH, CASQ2BP1, FDLAB, HAAH, JCTN, junctin
Name
(RefSeq) aspartate beta-hydroxylase
  KO
K00476  aspartate beta-hydroxylase [EC:1.14.11.16]
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
H02255  FDLAB syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04020 Calcium signaling pathway
    444 (ASPH)
 09150 Organismal Systems
  09153 Circulatory system
   04260 Cardiac muscle contraction
    444 (ASPH)
Enzymes [BR:hsa01000]
 1. Oxidoreductases
  1.14  Acting on paired donors, with incorporation or reduction of molecular oxygen
   1.14.11  With 2-oxoglutarate as one donor, and incorporation of one atom of oxygen into each donor
    1.14.11.16  peptide-aspartate beta-dioxygenase
     444 (ASPH)
SSDB
Motif
Pfam: Asp_Arg_Hydrox Asp-B-Hydro_N TPR_14 TPR_16 TPR_2 TPR_6 TPR_19 TPR_11 TPR_8 SNAP TPR_Slam ATG27 YfiO DUF2299 ANAPC3
Other DBs
NCBI-GeneID: 444
NCBI-ProteinID: NP_004309
OMIM: 600582
HGNC: 757
Ensembl: ENSG00000198363
UniProt: Q12797
Structure
LinkDB
Position
8:complement(61500556..61714592)
AA seq 758 aa
MAQRKNAKSSGNSSSSGSGSGSTSAGSSSPGARRETKHGGHKNGRKGGLSGTSFFTWFMV
IALLGVWTSVAVVWFDLVDYEEVLGKLGIYDADGDGDFDVDDAKVLLGLKERSTSEPAVP
PEEAEPHTEPEEQVPVEAEPQNIEDEAKEQIQSLLHEMVHAEHVEGEDLQQEDGPTGEPQ
QEDDEFLMATDVDDRFETLEPEVSHEETEHSYHVEETVSQDCNQDMEEMMSEQENPDSSE
PVVEDERLHHDTDDVTYQVYEEQAVYEPLENEGIEITEVTAPPEDNPVEDSQVIVEEVSI
FPVEEQQEVPPETNRKTDDPEQKAKVKKKKPKLLNKFDKTIKAELDAAEKLRKRGKIEEA
VNAFKELVRKYPQSPRARYGKAQCEDDLAEKRRSNEVLRGAIETYQEVASLPDVPADLLK
LSLKRRSDRQQFLGHMRGSLLTLQRLVQLFPNDTSLKNDLGVGYLLIGDNDNAKKVYEEV
LSVTPNDGFAKVHYGFILKAQNKIAESIPYLKEGIESGDPGTDDGRFYFHLGDAMQRVGN
KEAYKWYELGHKRGHFASVWQRSLYNVNGLKAQPWWTPKETGYTELVKSLERNWKLIRDE
GLAVMDKAKGLFLPEDENLREKGDWSQFTLWQQGRRNENACKGAPKTCTLLEKFPETTGC
RRGQIKYSIMHPGTHVWPHTGPTNCRLRMHLGLVIPKEGCKIRCANETKTWEEGKVLIFD
DSFEHEVWQDASSFRLIFIVDVWHPELTPQQRRSLPAI
NT seq 2277 nt   +upstreamnt  +downstreamnt
atggcccagcgtaagaatgccaagagcagcggcaacagcagcagcagcggctccggcagc
ggtagcacgagtgcgggcagcagcagccccggggcccggagagagacaaagcatggagga
cacaagaatgggaggaaaggcggactctcaggaacttcattcttcacgtggtttatggtg
attgcattgctgggcgtctggacatctgtagctgtcgtttggtttgatcttgttgactat
gaggaagttctaggaaaactaggaatctatgatgctgatggtgatggagattttgatgtg
gatgatgccaaagttttattaggacttaaagagagatctacttcagagccagcagtcccg
ccagaagaggctgagccacacactgagcccgaggagcaggttcctgtggaggcagaaccc
cagaatatcgaagatgaagcaaaagaacaaattcagtcccttctccatgaaatggtacac
gcagaacatgttgagggagaagacttgcaacaagaagatggacccacaggagaaccacaa
caagaggatgatgagtttcttatggcgactgatgtagatgatagatttgagaccctggaa
cctgaagtatctcatgaagaaaccgagcatagttaccacgtggaagagacagtttcacaa
gactgtaatcaggatatggaagagatgatgtctgagcaggaaaatccagattccagtgaa
ccagtagtagaagatgaaagattgcaccatgatacagatgatgtaacataccaagtctat
gaggaacaagcagtatatgaacctctagaaaatgaagggatagaaatcacagaagtaact
gctccccctgaggataatcctgtagaagattcacaggtaattgtagaagaagtaagcatt
tttcctgtggaagaacagcaggaagtaccaccagaaacaaatagaaaaacagatgatcca
gaacaaaaagcaaaagttaagaaaaagaagcctaaacttttaaataaatttgataagact
attaaagctgaacttgatgctgcagaaaaactccgtaaaaggggaaaaattgaggaagca
gtgaatgcatttaaagaactagtacgcaaataccctcagagtccacgagcaagatatggg
aaggcgcagtgtgaggatgatttggctgagaagaggagaagtaatgaggtgctacgtgga
gccatcgagacctaccaagaggtggccagcctacctgatgtccctgcagacctgctgaag
ctgagtttgaagcgtcgctcagacaggcaacaatttctaggtcatatgagaggttccctg
cttaccctgcagagattagttcaactatttcccaatgatacttccttaaaaaatgacctt
ggcgtgggatacctcttgataggagataatgacaatgcaaagaaagtttatgaagaggtg
ctgagtgtgacacctaatgatggctttgctaaagtccattatggcttcatcctgaaggca
cagaacaaaattgctgagagcatcccatatttaaaggaaggaatagaatccggagatcct
ggcactgatgatgggagattttatttccacctgggggatgccatgcagagggttgggaac
aaagaggcatataagtggtatgagcttgggcacaagagaggacactttgcatctgtctgg
caacgctcactctacaatgtgaatggactgaaagcacagccttggtggaccccaaaagaa
acgggctacacagagttagtaaagtctttagaaagaaactggaagttaatccgagatgaa
ggccttgcagtgatggataaagccaaaggtctcttcctgcctgaggatgaaaacctgagg
gaaaaaggggactggagccagttcacgctgtggcagcaaggaagaagaaatgaaaatgcc
tgcaaaggagctcctaaaacctgtaccttactagaaaagttccccgagacaacaggatgc
agaagaggacagatcaaatattccatcatgcaccccgggactcacgtgtggccgcacaca
gggcccacaaactgcaggctccgaatgcacctgggcttggtgattcccaaggaaggctgc
aagattcgatgtgccaacgagaccaagacctgggaggaaggcaaggtgctcatctttgat
gactcctttgagcacgaggtatggcaggatgcctcatctttccggctgatattcatcgtg
gatgtgtggcatccggaactgacaccacagcagagacgcagccttccagcaatttag

KEGG   Homo sapiens (human): 844
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)
SSDB
Motif
Pfam: Calsequestrin Thioredoxin_6 OST3_OST6 TXNDC16_N Thioredoxin
Other DBs
NCBI-GeneID: 844
NCBI-ProteinID: NP_001222
OMIM: 114250
HGNC: 1512
Ensembl: ENSG00000143318
UniProt: P31415
Structure
LinkDB
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

KEGG   Homo sapiens (human): 845
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)
SSDB
Motif
Pfam: Calsequestrin Thioredoxin_6
Other DBs
NCBI-GeneID: 845
NCBI-ProteinID: NP_001223
OMIM: 114251
HGNC: 1513
Ensembl: ENSG00000118729
UniProt: O14958
Structure
LinkDB
Position
1:complement(115700021..115768714)
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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