Seroatlas · Human Serome Atlas

RYR3

Ryanodine receptor 3

Also known as: RYR3_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q15413
Gene: RYR3
Ensembl: ENSG00000198838
Chromosome: 15
Canonical length: 4870 aa
Protein class: Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location: Vesicles
Quaternary structure: Homotetramer

OverviewNCBI Gene

The protein encoded by this gene is a ryanodine receptor, which functions to release calcium from intracellular storage for use in many cellular processes. For example, the encoded protein is involved in skeletal muscle contraction by releasing calcium from the sarcoplasmic reticulum followed by depolarization of T-tubules. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

Canonical amino-acid sequenceUniProt

4870 residues, UniProt reviewed canonical sequence.

>Q15413|RYR3
     1  MAEGGEGGED EIQFLRTEDE VVLQCIATIH KEQRKFCLAA EGLGNRLCFL EPTSEAKYIP
    61  PDLCVCNFVL EQSLSVRALQ EMLANTGENG GEGAAQGGGH RTLLYGHAVL LRHSFSGMYL
   121  TCLTTSRSQT DKLAFDVGLR EHATGEACWW TIHPASKQRS EGEKVRIGDD LILVSVSSER
   181  YLHLSVSNGN IQVDASFMQT LWNVHPTCSG SSIEEGYLLG GHVVRLFHGH DECLTIPSTD
   241  QNDSQHRRIF YEAGGAGTRA RSLWRVEPLR ISWSGSNIRW GQAFRLRHLT TGHYLALTED
   301  QGLILQDRAK SDTKSTAFSF RASKELKEKL DSSHKRDIEG MGVPEIKYGD SVCFVQHIAS
   361  GLWVTYKAQD AKTSRLGPLK RKVILHQEGH MDDGLTLQRC QREESQAARI IRNTTALFSQ
   421  FVSGNNRTAA PITLPIEEVL QTLQDLIAYF QPPEEEMRHE DKQNKLRSLK NRQNLFKEEG
   481  MLALVLNCID RLNVYNSVAH FAGIAREESG MAWKEILNLL YKLLAALIRG NRNNCAQFSN
   541  NLDWLISKLD RLESSSGILE VLHCILTESP EALNLIAEGH IKSIISLLDK HGRNHKVLDI
   601  LCSLCLCNGV AVRANQNLIC DNLLPRRNLL LQTRLINDVT SIRPNIFLGV AEGSAQYKKW
   661  YFELIIDQVD PFLTAEPTHL RVGWASSSGY APYPGGGEGW GGNGVGDDLY SYGFDGLHLW
   721  SGRIPRAVAS INQHLLRSDD VVSCCLDLGV PSISFRINGQ PVQGMFENFN TDGLFFPVMS
   781  FSAGVKVRFL MGGRHGEFKF LPPSGYAPCY EALLPKEKMR LEPVKEYKRD ADGIRDLLGT
   841  TQFLSQASFI PCPVDTSQVI LPPHLEKIRD RLAENIHELW GMNKIELGWT FGKIRDDNKR
   901  QHPCLVEFSK LPETEKNYNL QMSTETLKTL LALGCHIAHV NPAAEEDLKK VKLPKNYMMS
   961  NGYKPAPLDL SDVKLLPPQE ILVDKLAENA HNVWAKDRIK QGWTYGIQQD LKNKRNPRLV
  1021  PYALLDERTK KSNRDSLREA VRTFVGYGYN IEPSDQELAD SAVEKVSIDK IRFFRVERSY
  1081  AVRSGKWYFE FEVVTGGDMR VGWARPGCRP DVELGADDQA FVFEGNRGQR WHQGSGYFGR
  1141  TWQPGDVVGC MINLDDASMI FTLNGELLIT NKGSELAFAD YEIENGFVPI CCLGLSQIGR
  1201  MNLGTDASTF KFYTMCGLQE GFEPFAVNMN RDVAMWFSKR LPTFVNVPKD HPHIEVMRID
  1261  GTMDSPPCLK VTHKTFGTQN SNADMIYCRL SMPVECHSSF SHSPCLDSEA FQKRKQMQEI
  1321  LSHTTTQCYY AIRIFAGQDP SCVWVGWVTP DYHLYSEKFD LNKNCTVTVT LGDERGRVHE
  1381  SVKRSNCYMV WGGDIVASSQ RSNRSNVDLE IGCLVDLAMG MLSFSANGKE LGTCYQVEPN
  1441  TKVFPAVFLQ PTSTSLFQFE LGKLKNAMPL SAAIFRSEEK NPVPQCPPRL DVQTIQPVLW
  1501  SRMPNSFLKV ETERVSERHG WVVQCLEPLQ MMALHIPEEN RCVDILELCE QEDLMRFHYH
  1561  TLRLYSAVCA LGNSRVAYAL CSHVDLSQLF YAIDNKYLPG LLRSGFYDLL ISIHLASAKE
  1621  RKLMMKNEYI IPITSTTRNI RLFPDESKRH GLPGVGLRTC LKPGFRFSTP CFVVTGEDHQ
  1681  KQSPEIPLES LRTKALSMLT EAVQCSGAHI RDPVGGSVEF QFVPVLKLIG TLLVMGVFDD
  1741  DDVRQILLLI DPSVFGEHSA GTEEGAEKEE VTQVEEKAVE AGEKAGKEAP VKGLLQTRLP
  1801  ESVKLQMCEL LSYLCDCELQ HRVEAIVAFG DIYVSKLQAN QKFRYNELMQ ALNMSAALTA
  1861  RKTKEFRSPP QEQINMLLNF QLGENCPCPE EIREELYDFH EDLLLHCGVP LEEEEEEEED
  1921  TSWTGKLCAL VYKIKGPPKP EKEQPTEEEE RCPTTLKELI SQTMICWAQE DQIQDSELVR
  1981  MMFNLLRRQY DSIGELLQAL RKTYTISHTS VSDTINLLAA LGQIRSLLSV RMGKEEELLM
  2041  INGLGDIMNN KVFYQHPNLM RVLGMHETVM EVMVNVLGTE KSQIAFPKMV ASCCRFLCYF
  2101  CRISRQNQKA MFEHLSYLLE NSSVGLASPS MRGSTPLDVA ASSVMDNNEL ALSLEEPDLE
  2161  KVVTYLAGCG LQSCPMLLAK GYPDVGWNPI EGERYLSFLR FAVFVNSESV EENASVVVKL
  2221  LIRRPECFGP ALRGEGGNGL LAAMQGAIKI SENPALDLPS QGYKREVSTG DDEEEEEIVH
  2281  MGNAIMSFYS ALIDLLGRCA PEMHLIQTGK GEAIRIRSIL RSLVPTEDLV GIISIPLKLP
  2341  SLNKDGSVSE PDMAANFCPD HKAPMVLFLD RVYGIKDQTF LLHLLEVGFL PDLRASASLD
  2401  TVSLSTTEAA LALNRYICSA VLPLLTRCAP LFAGTEHCTS LIDSTLQTIY RLSKGRSLTK
  2461  AQRDTIEECL LAICNHLRPS MLQQLLRRLV FDVPQLNEYC KMPLKLLTNH YEQCWKYYCL
  2521  PSGWGSYGLA VEEELHLTEK LFWGIFDSLS HKKYDPDLFR MALPCLSAIA GALPPDYLDT
  2581  RITATLEKQI SVDADGNFDP KPINTMNFSL PEKLEYIVTK YAEHSHDKWA CDKSQSGWKY
  2641  GISLDENVKT HPLIRPFKTL TEKEKEIYRW PARESLKTML AVGWTVERTK EGEALVQQRE
  2701  NEKLRSVSQA NQGNSYSPAP LDLSNVVLSR ELQGMVEVVA ENYHNIWAKK KKLELESKGG
  2761  GSHPLLVPYD TLTAKEKFKD REKAQDLFKF LQVNGIIVSR GMKDMELDAS SMEKRFAYKF
  2821  LKKILKYVDS AQEFIAHLEA IVSSGKTEKS PRDQEIKFFA KVLLPLVDQY FTSHCLYFLS
  2881  SPLKPLSSSG YASHKEKEMV AGLFCKLAAL VRHRISLFGS DSTTMVSCLH ILAQTLDTRT
  2941  VMKSGSELVK AGLRAFFENA AEDLEKTSEN LKLGKFTHSR TQIKGVSQNI NYTTVALLPI
  3001  LTSIFEHVTQ HQFGMDLLLG DVQISCYHIL CSLYSLGTGK NIYVERQRPA LGECLASLAA
  3061  AIPVAFLEPT LNRYNPLSVF NTKTPRERSI LGMPDTVEDM CPDIPQLEGL MKEINDLAES
  3121  GARYTEMPHV IEVILPMLCN YLSYWWERGP ENLPPSTGPC CTKVTSEHLS LILGNILKII
  3181  NNNLGIDEAS WMKRIAVYAQ PIISKARPDL LRSHFIPTLE KLKKKAVKTV QEEEQLKADG
  3241  KGDTQEAELL ILDEFAVLCR DLYAFYPMLI RYVDNNRSNW LKSPDADSDQ LFRMVAEVFI
  3301  LWCKSHNFKR EEQNFVIQNE INNLAFLTGD SKSKMSKAMQ VKSGGQDQER KKTKRRGDLY
  3361  SIQTSLIVAA LKKMLPIGLN MCTPGDQELI SLAKSRYSHR DTDEEVREHL RNNLHLQEKS
  3421  DDPAVKWQLN LYKDVLKSEE PFNPEKTVER VQRISAAVFH LEQVEQPLRS KKAVWHKLLS
  3481  KQRKRAVVAC FRMAPLYNLP RHRSINLFLH GYQRFWIETE EYSFEEKLVQ DLAKSPKVEE
  3541  EEEEETEKQP DPLHQIILYF SRNALTERSK LEDDPLYTSY SSMMAKSCQS GEDEEEDEDK
  3601  EKTFEEKEME KQKTLYQQAR LHERGAAEMV LQMISASKGE MSPMVVETLK LGIAILNGGN
  3661  AGVQQKMLDY LKEKKDAGFF QSLSGLMQSC SVLDLNAFER QNKAEGLGMV TEEGTLIVRE
  3721  RGEKVLQNDE FTRDLFRFLQ LLCEGHNSDF QNFLRTQMGN TTTVNVIIST VDYLLRLQES
  3781  ISDFYWYYSG KDIIDESGQH NFSKALAVTK QIFNSLTEYI QGPCIGNQQS LAHSRLWDAV
  3841  VGFLHVFANM QMKLSQDSSQ IELLKELLDL LQDMVVMLLS LLEGNVVNGT IGKQMVDTLV
  3901  ESSTNVEMIL KFFDMFLKLK DLTSSDTFKE YDPDGKGIIS KKEFQKAMEG QKQYTQSEID
  3961  FLLSCAEADE NDMFNYVDFV DRFHEPAKDI GFNVAVLLTN LSEHMPNDSR LKCLLDPAES
  4021  VLNYFEPYLG RIEIMGGAKK IERVYFEISE SSRTQWEKPQ VKESKRQFIF DVVNEGGEQE
  4081  KMELFVNFCE DTIFEMQLAS QISESDSADR PEEEEEDEDS SYVLEIAGEE EEDGSLEPAS
  4141  AFAMACASVK RNVTDFLKRA TLKNLRKQYR NVKKMTAKEL VKVLFSFFWM LFVGLFQLLF
  4201  TILGGIFQIL WSTVFGGGLV EGAKNIRVTK ILGDMPDPTQ FGIHDDTMEA ERAEVMEPGI
  4261  TTELVHFIKG EKGDTDIMSD LFGLHPKKEG SLKHGPEVGL GDLSEIIGKD EPPTLESTVQ
  4321  KKRKAQAAEM KAANEAEGKV ESEKADMEDG EKEDKDKEEE QAEYLWTEVT KKKKRRCGQK
  4381  VEKPEAFTAN FFKGLEIYQT KLLHYLARNF YNLRFLALFV AFAINFILLF YKVTEEPLEE
  4441  ETEDVANLWN SFNDEEEEEA MVFFVLQEST GYMAPTLRAL AIIHTIISLV CVVGYYCLKV
  4501  PLVVFKREKE IARKLEFDGL YITEQPSEDD IKGQWDRLVI NTPSFPNNYW DKFVKRKVIN
  4561  KYGDLYGAER IAELLGLDKN ALDFSPVEET KAEAASLVSW LSSIDMKYHI WKLGVVFTDN
  4621  SFLYLAWYTT MSVLGHYNNF FFAAHLLDIA MGFKTLRTIL SSVTHNGKQL VLTVGLLAVV
  4681  VYLYTVVAFN FFRKFYNKSE DDDEPDMKCD DMMTCYLFHM YVGVRAGGGI GDEIEDPAGD
  4741  PYEMYRIVFD ITFFFFVIVI LLAIIQGLII DAFGELRDQQ EQVREDMETK CFICGIGNDY
  4801  FDTTPHGFET HTLQEHNLAN YLFFLMYLIN KDETEHTGQE SYVWKMYQER CWDFFPAGDC
  4861  FRKQYEDQLG

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RYR3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Other membrane
Secreted: No
Transmembrane segments: 7
Mean surface accessibility (rSASA): 0
Highest tissue expression: 41 nTPM

Expression across tissuesHPA

Tissue

tongue: 41 nTPM
basal ganglia: 33 nTPM
choroid plexus: 28 nTPM
amygdala: 26 nTPM
skeletal muscle: 23 nTPM
cerebral cortex: 22 nTPM

Single-cell type

myonuclei: 1,899 nCPM
astrocytes: 1,441 nCPM
podocytes: 1,228 nCPM
megakaryocyte-erythroid progenitors: 1,227 nCPM
choroid plexus epithelial cells: 1,134 nCPM
retinal horizontal cells: 1,108 nCPM

Immune cell

basophil: 1.9 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

basal ganglia: 66 nTPM
thalamus: 52 nTPM
medulla oblongata: 49 nTPM
hippocampal formation: 49 nTPM
amygdala: 47 nTPM
cerebellum: 45 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RYR3.

Disease | AllUniProt

Conditions RYR3 is implicated in, by any mechanism.

Congenital myopathy 20 (CMYO20) MIM:620310

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 1,914 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Hydrops fetalis

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.28
gnomAD pLI: 0.71
gnomAD missense Z: 1.84
DepMap mean gene effect: 0.03
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of RYR3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads RYR3 as an antibody target. Whether an autoantibody or antibody against RYR3 could matter depends on whether native RYR3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RYR3 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label RYR3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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