C-It-Loci: A knowledge database for tissue-enriched loci.

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: ryanodine receptor 1 (skeletal)
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000196218 RYR1 9606 + 19:38433699-38587564 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000355481 RYR1-001 38433699-38587564 protein_coding
  ENST00000359596 RYR1-010 38433830-38587420 protein_coding
  ENST00000360985 RYR1-201 38433723-38587562 protein_coding
  ENST00000593322 RYR1-008 38534760-38548372 nonsense_mediated_decay
  ENST00000593677 RYR1-009 38566927-38572244 protein_coding
  ENST00000594111 RYR1-004 38466128-38467886 retained_intron
  ENST00000594335 RYR1-002 38496215-38565228 nonsense_mediated_decay
  ENST00000596431 RYR1-007 38534732-38538673 protein_coding
  ENST00000599547 RYR1-003 38511571-38535174 protein_coding
  ENST00000600337 RYR1-005 38523067-38523588 retained_intron
  ENST00000601514 RYR1-006 38528090-38536062 protein_coding

Homo sapiens EnsemblGRCh38

Genome
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Genes
Gene structures from Ensembl
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Transcripts
Structures from Ensembl
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Expression Patterns

Heat Map
Numeric Values
Transcript'; AdrenalBladderBrainBreastColonHeartKidneyLiverMuscleOvaryPlacentaTestisENST00000355481ENST00000359596ENST00000360985ENST00000593677ENST00000594335ENST00000599547ENST00000600337
Transcript ID Adrenal Bladder Brain Breast Colon Heart Kidney Liver Muscle Ovary Placenta Testis
ENST00000355481 N/A 0.036±0.00 N/A N/A 0.022±0.00 0.014±0.00 0.019±0.00 N/A N/A N/A N/A N/A
ENST00000359596 N/A N/A 0.061±0.00 N/A N/A N/A N/A 0.002±0.00 93.459±0.00 0.068±0.00 N/A 0.565±0.00
ENST00000360985 0.474±0.00 0.066±0.00 4.588±0.00 6.504±0.00 0.125±0.00 0.017±0.00 0.194±0.17 0.162±0.00 40.052±18.65 N/A 0.073±0.00 1.375±0.00
ENST00000593677 2.713±0.00 N/A N/A N/A N/A N/A 3.904±0.00 N/A N/A 2.219±0.00 N/A N/A
ENST00000594335 N/A N/A 0.232±0.00 N/A N/A 0.033±0.00 N/A N/A 117.992±0.00 N/A N/A 2.742±0.00
ENST00000599547 N/A N/A N/A N/A N/A N/A N/A 0.014±0.00 N/A N/A N/A N/A
ENST00000600337 N/A N/A N/A N/A N/A N/A N/A 0.179±0.00 N/A N/A N/A N/A

Conserved Regions

Gene is not located within a conserved region.

Gene Ontology
GO IDEvidence TypeGO Description
GO:0001666 IDA response to hypoxia
GO:0002020 IEA protease binding
GO:0003151 ISS outflow tract morphogenesis
GO:0005216 IEA ion channel activity
GO:0005219 ISS:IEA ryanodine-sensitive calcium-release channel activity
GO:0005245 ISS voltage-gated calcium channel activity
GO:0005262 ISS:IEA calcium channel activity
GO:0005509 IEA calcium ion binding
GO:0005515 IPI:IEA protein binding
GO:0005516 ISS calmodulin binding
GO:0005737 IDA cytoplasm
GO:0005790 IEA smooth endoplasmic reticulum
GO:0005886 IDA plasma membrane
GO:0005887 TAS integral component of plasma membrane
GO:0005938 IDA cell cortex
GO:0006811 IEA ion transport
GO:0006816 ISS calcium ion transport
GO:0006874 IEA cellular calcium ion homeostasis
GO:0006936 ISS muscle contraction
GO:0014701 TAS junctional sarcoplasmic reticulum membrane
GO:0014802 ISS terminal cisterna
GO:0014808 ISS release of sequestered calcium ion into cytosol by sarcoplasmic reticulum
GO:0015278 TAS calcium-release channel activity
GO:0016020 IEA membrane
GO:0016021 IEA integral component of membrane
GO:0016529 ISS sarcoplasmic reticulum
GO:0019899 IEA enzyme binding
GO:0030314 IEA junctional membrane complex
GO:0030315 IEA T-tubule
GO:0031000 ISS response to caffeine
GO:0031674 IDA I band
GO:0033017 ISS sarcoplasmic reticulum membrane
GO:0034220 TAS ion transmembrane transport
GO:0043234 IEA protein complex
GO:0043588 ISS skin development
GO:0043931 ISS ossification involved in bone maturation
GO:0048741 ISS skeletal muscle fiber development
GO:0051209 ISS release of sequestered calcium ion into cytosol
GO:0051480 ISS cytosolic calcium ion homeostasis
GO:0055085 TAS:IEA transmembrane transport
GO:0070062 IDA extracellular vesicular exosome
GO:0070588 IEA calcium ion transmembrane transport
GO:0071313 ISS cellular response to caffeine

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000011422 ryr1a ryanodine receptor 1a (skeletal) protein_coding Danio_rerio
ENSDARG00000023797 ryr1b ryanodine receptor 1b (skeletal) protein_coding Danio_rerio
ENSMUSG00000030592 Ryr1 ryanodine receptor 1, skeletal muscle protein_coding Mus_musculus

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