Gene: ENSG00000196218 (Homo sapiens)

Overview top

Gene Identifier
ENSG00000196218
Transcript Identifier
ENST00000359596
Gene Type
Coding gene
Location
19 : 38433830-38587420 : positive

Family Information

Homologous gene family
HOM03P001263
(54 genes in 8 species)
specific family
Orthologous gene family
ORTHO03P012152
(7 genes in 4 species)
specific family

Descriptions

gene_descr
ryanodine receptor 1 (skeletal)

Identifiers

Type Value
pidENSP00000352608
HGNC10483
UniprotP21817

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Biological Process

GO termEvidence(s)Provider(s)DescriptionSource(s)
GO:0001666
IDA
Genome Projectresponse to hypoxia
GO:0003151
ISS
IEA
Genome Projectoutflow tract morphogenesis
GO:0006810
IEA
Genome Projecttransport
GO:0006811
IEA
Genome Projection transport
GO:0006816
ISS
TAS, IEA
Genome Projectcalcium ion transport
GO:0006874
IEA
Genome Projectcellular calcium ion homeostasis
GO:0006936
ISS
TAS, IEA
Genome Projectmuscle contraction
GO:0007275
IEA
Genome Projectmulticellular organismal development
GO:0014808
ISS
IEA
Genome Projectrelease of sequestered calcium ion into cytosol by sarcoplasmic reticulum
GO:0031000
ISS
Genome Projectresponse to caffeine
GO:0034220
TAS
Genome Projection transmembrane transport
GO:0043588
ISS
IEA
Genome Projectskin development
GO:0043931
ISS
IEA
Genome Projectossification involved in bone maturation
GO:0048741
ISS
IEA
Genome Projectskeletal muscle fiber development
GO:0051209
ISS
IEA
Genome Projectrelease of sequestered calcium ion into cytosol
GO:0051480
ISS
Genome Projectcytosolic calcium ion homeostasis
GO:0055085
TAS, IEA
Genome Projecttransmembrane transport
GO:0070588
IEA
Genome Projectcalcium ion transmembrane transport
GO:0071313
ISS
IEA
Genome Projectcellular response to caffeine

Molecular Function

GO termEvidence(s)Provider(s)DescriptionSource(s)
GO:0002020
IEA
Genome Projectprotease binding
GO:0005216
IEA
Genome Projection channel activity
GO:0005219
IDA
ISS
TAS, IEA
Genome Projectryanodine-sensitive calcium-release channel activity
GO:0005245
ISS
IEA
Genome Projectvoltage-gated calcium channel activity
GO:0005262
ISS
IEA
Genome Projectcalcium channel activity
GO:0005515
IPI
Genome Projectprotein binding
GO:0005516
ISS
IEA
Genome Projectcalmodulin binding
GO:0015278
TAS
Genome Projectcalcium-release channel activity
GO:0019899
IEA
Genome Projectenzyme binding

Cellular Component

GO termEvidence(s)Provider(s)DescriptionSource(s)
GO:0005737
IDA
Genome Projectcytoplasm
GO:0005790
TAS, IEA
Genome Projectsmooth endoplasmic reticulum
GO:0005829
ISS
Genome Projectcytosol
GO:0005886
IDA
Genome Projectplasma membrane
GO:0005887
TAS
Genome Projectintegral component of plasma membrane
GO:0005938
IDA
Genome Projectcell cortex
GO:0014701
TAS
Genome Projectjunctional sarcoplasmic reticulum membrane
GO:0014802
ISS
Genome Projectterminal cisterna
GO:0016020
IEA
Genome Projectmembrane
GO:0016021
IEA
Genome Projectintegral component of membrane
GO:0016529
ISS
IEA
Genome Projectsarcoplasmic reticulum
GO:0030314
IEA
Genome Projectjunctional membrane complex
GO:0030315
IEA
Genome ProjectT-tubule
GO:0031674
IDA
Genome ProjectI band
GO:0033017
ISS
TAS, IEA
Genome Projectsarcoplasmic reticulum membrane
GO:0043234
IEA
Genome Projectprotein complex
GO:0070062
IDA
Genome Projectextracellular exosome

Color Legend

Experimental Evidence
Computational Reviewed Evidence
Electronic Evidence
GO Sources:   Primary     Orthology     Homology  
Show redundant parents:  
 
InterPro Description
IPR000699RIH (RyR and IP3R Homology) domain
IPR001870B30.2/SPRY domain
IPR003032Ryanodine receptor Ryr
IPR003877SPRY domain
IPR005821Ion transport domain
IPR009460Ryanodine Receptor TM 4-6
IPR011992EF-hand domain pair
IPR013320Concanavalin A-like lectin/glucanase domain
IPR013333Ryanodine receptor
IPR013662RyR/IP3R Homology associated domain
IPR014821Inositol 1,4,5-trisphosphate/ryanodine receptor
IPR015925Ryanodine receptor-related
IPR016093MIR motif

No MapMan annotations defined for this gene.