ITPR1

ITPR1
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 1N4K, 1XZZ
Dynodwyr
Cyfenwau	ITPR1, ACV, CLA4, INSP3R1, IP3R, IP3R1, PPP1R94, SCA15, SCA16, SCA29, inositol 1,4,5-trisphosphate receptor type 1
Dynodwyr allanol	OMIM: 147265 HomoloGene: 1673 GeneCards: ITPR1
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • calcium channel inhibitor activity • calcium channel activity • inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity • calcium ion transmembrane transporter activity • ion channel activity • GO:0001948, GO:0016582 protein binding • phosphatidylinositol binding • calcium-release channel activity • calcium ion binding • inositol 1,4,5 trisphosphate binding • inositol 1,4,5-trisphosphate receptor activity involved in regulation of postsynaptic cytosolic calcium levels Cydrannau o'r gell • cytoplasm • integral component of membrane • platelet dense tubular network • endoplasmic reticulum membrane • bilen • GO:0097483, GO:0097481 postsynaptic density • nuclear envelope • calcineurin complex • sarcoplasmic reticulum • nuclear inner membrane • platelet dense granule membrane • nucleolus • platelet dense tubular network membrane • Cellbilen • transport vesicle membrane • GO:0016023 cytoplasmic vesicle • perinuclear region of cytoplasm • Reticwlwm endoplasmig • cytoplasmic vesicle membrane • secretory granule membrane • GO:0009327 protein-containing complex • Schaffer collateral - CA1 synapse Prosesau biolegol • release of sequestered calcium ion into cytosol • regulation of cardiac conduction • response to hypoxia • voluntary musculoskeletal movement • regulation of insulin secretion • epithelial fluid transport • cludo ïon • post-embryonic development • endoplasmic reticulum calcium ion homeostasis • platelet activation • intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress • regulation of autophagy • transmembrane transport • calcium ion transmembrane transport • negative regulation of calcium-mediated signaling • inositol phosphate-mediated signaling • calcium ion transport • GO:0097285 apoptotic process • GO:0072468 signal transduction • regulation of molecular function • GO:0015915 transport • regulation of postsynaptic cytosolic calcium ion concentration Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	3708	n/a
Ensembl	ENSG00000150995	n/a
UniProt	Q14643	n/a
RefSeq (mRNA)	NM_001099952 NM_001168272 NM_002222 NM_001378452	n/a
RefSeq (protein)	NP_001093422 NP_001161744 NP_002213	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search		n/a
Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn ITPR1 yw ITPR1 a elwir hefyd yn Inositol 1,4,5-trisphosphate receptor type 1 (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn blaen o gromosom dynol 3, band 3p26.1.

Cyfystyron

Yn aml mae gan enynnau lawer o gyfystyron. Mae hyn oherwydd eu bod yn aml yn cael eu darganfod gan nifer o bobl mewn cyd-destunau gwahanol heb wybod mai'r un genynnau oeddyn nhw. Hefyd mae gan wahanol gymunedau gwyddonol safonau gwahanol ar gyfer enwi genynnau. Dyma restr o gyfystyron ar gyfer y genyn ITPR1.

• ACV
• CLA4
• IP3R
• IP3R1
• SCA15
• SCA16
• SCA29
• INSP3R1
• PPP1R94

Llyfryddiaeth

• "Mutational analysis of ITPR1 in a Taiwanese cohort with cerebellar ataxias. ". PLoS One. 2017. PMID 29186133.
• "A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers. ". Eur J Hum Genet. 2017. PMID 28488678.
• "Spinocerebellar ataxia 15: A phenotypic review and expansion. ". Neurol Neurochir Pol. 2017. PMID 27908616.
• "A de novo missense mutation in the inositol 1,4,5-triphosphate receptor type 1 gene causing severe pontine and cerebellar hypoplasia: Expanding the phenotype of ITPR1-related spinocerebellar ataxia's. ". Am J Med Genet A. 2017. PMID 27862915.
• "Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.". Am J Hum Genet. 2016. PMID 27108797.