ITPR1 (inositol 1,4,5-triphosphate receptor, type 1)

Identity

Other names	INSP3R1
	IP3R
	IP3R1
	SCA15
	SCA16
HGNC	ITPR1
Location	3p26.1
Location_base_pair	Starts at 4510034 and ends at 4864286 bp from pter ( according to hg18-March_2006).
Note	Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

External links

	Nomenclature
HGNC	ITPR1   6180
Entrez_Gene	ITPR1  3708  inositol 1,4,5-triphosphate receptor, type 1
	Cards
GeneCards	ITPR1
Ensembl	ITPR1 [Search_View]   ENSG00000143772 [Gene_View]
Genatlas	ITPR1
GeneLynx	ITPR1
eGenome	ITPR1
euGene	3708
	Genomic and cartography
GoldenPath	ITPR1  -  3p26.1   chr3:4510034-4864286 +  3p26.2   [Description]    (hg18-March_2006)
Ensembl	ITPR1 - 3p26.2 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	ITPR1
	Gene and transcription
Genbank	AB208868 [ ENTREZ ]
Genbank	AI470158 [ ENTREZ ]
Genbank	AK309981 [ ENTREZ ]
Genbank	AK311008 [ ENTREZ ]
Genbank	BQ006717 [ ENTREZ ]
RefSeq	NM_001099952 [ SRS ]    NM_001099952 [ ENTREZ ]
RefSeq	NM_002222 [ SRS ]    NM_002222 [ ENTREZ ]
RefSeq	AC_000046 [ SRS ]    AC_000046 [ ENTREZ ]
RefSeq	AC_000135 [ SRS ]    AC_000135 [ ENTREZ ]
RefSeq	NC_000003 [ SRS ]    NC_000003 [ ENTREZ ]
RefSeq	NT_022517 [ SRS ]    NT_022517 [ ENTREZ ]
RefSeq	NW_001838876 [ SRS ]    NW_001838876 [ ENTREZ ]
RefSeq	NW_921651 [ SRS ]    NW_921651 [ ENTREZ ]
AceView	ITPR1 AceView - NCBI
Unigene	Hs.712541 [ SRS ]    Hs.712541 [ NCBI ]     HS712541 [ spliceNest ]
Fast-db	931 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	Q14643 [ SRS]    Q14643 [ EXPASY ]     Q14643 [ INTERPRO ]     Q14643 [ UNIPROT ]
Prosite	PS50919 MIR [ SRS ]    PS50919 MIR [ Expasy ]
Interpro	IPR000699 Ca-rel_channel [ SRS ]    IPR000699 Ca-rel_channel [ EBI ]
Interpro	IPR014821 Ins145_P3_rcpt [ SRS ]    IPR014821 Ins145_P3_rcpt [ EBI ]
Interpro	IPR000493 InsP3_rcpt_bd [ SRS ]    IPR000493 InsP3_rcpt_bd [ EBI ]
Interpro	IPR005821 Ion_trans [ SRS ]    IPR005821 Ion_trans [ EBI ]
Interpro	IPR003608 MIR [ SRS ]    IPR003608 MIR [ EBI ]
Interpro	IPR016093 MIR_motif [ SRS ]    IPR016093 MIR_motif [ EBI ]
Interpro	IPR013662 RIH_assoc [ SRS ]    IPR013662 RIH_assoc [ EBI ]
Interpro	IPR015925 Ryanodine_recept-rel [ SRS ]    IPR015925 Ryanodine_recept-rel [ EBI ]
CluSTr	Q14643
Pfam	PF08709 Ins145_P3_rec [ SRS ]    PF08709 Ins145_P3_rec [ Sanger ]    pfam08709 [ NCBI-CDD ]
Pfam	PF00520 Ion_trans [ SRS ]    PF00520 Ion_trans [ Sanger ]    pfam00520 [ NCBI-CDD ]
Pfam	PF02815 MIR [ SRS ]    PF02815 MIR [ Sanger ]    pfam02815 [ NCBI-CDD ]
Pfam	PF08454 RIH_assoc [ SRS ]    PF08454 RIH_assoc [ Sanger ]    pfam08454 [ NCBI-CDD ]
Pfam	PF01365 RYDR_ITPR [ SRS ]    PF01365 RYDR_ITPR [ Sanger ]    pfam01365 [ NCBI-CDD ]
Smart	SM00472 MIR [EMBL]
Blocks	Q14643
HPRD	00925
	Protein Interaction databases
DIP	Q14643
IntAct	Q14643
	Polymorphism : SNP, mutations, diseases
OMIM	147265;606364;606658    [ map ]
GENECLINICS	147265;606364;606658
SNP	ITPR1 [dbSNP-NCBI]
SNP	NM_001099952 [SNP-NCI]
SNP	NM_002222 [SNP-NCI]
SNP	ITPR1 [GeneSNPs - Utah]  ITPR1] [HGBASE - SRS]
HAPMAP	ITPR1 [HAPMAP]
COSMIC	ITPR1 [Somatic mutation (COSMIC-CGP-Sanger)]
HGMD	ITPR1
	General knowledge
Family Browser	ITPR1 [UCSC Family Browser]
SOURCE	NM_001099952
SOURCE	NM_002222
SMD	Hs.712541
SAGE	Hs.712541
GO	ion channel activity [Amigo]  ion channel activity
GO	inositol 1,4,5-triphosphate-sensitive calcium-release channel activity [Amigo]  inositol 1,4,5-triphosphate-sensitive calcium-release channel activity
GO	calcium channel activity [Amigo]  calcium channel activity
GO	calcium channel activity [Amigo]  calcium channel activity
GO	calcium ion binding [Amigo]  calcium ion binding
GO	protein binding [Amigo]  protein binding
GO	endoplasmic reticulum [Amigo]  endoplasmic reticulum
GO	endoplasmic reticulum membrane [Amigo]  endoplasmic reticulum membrane
GO	integral to plasma membrane [Amigo]  integral to plasma membrane
GO	ion transport [Amigo]  ion transport
GO	calcium ion transport [Amigo]  calcium ion transport
GO	signal transduction [Amigo]  signal transduction
GO	inositol-1,4,5-triphosphate receptor activity [Amigo]  inositol-1,4,5-triphosphate receptor activity
GO	cell death [Amigo]  cell death
GO	calcium ion transmembrane transporter activity [Amigo]  calcium ion transmembrane transporter activity
GO	membrane [Amigo]  membrane
GO	platelet dense tubular network membrane [Amigo]  platelet dense tubular network membrane
KEGG	Calcium signaling pathway
KEGG	Phosphatidylinositol signaling system
KEGG	Gap junction
KEGG	Long-term potentiation
KEGG	Long-term depression
KEGG	GnRH signaling pathway
PubGene	ITPR1
TreeFam	ITPR1
CTD	3708 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	ITPR1 Related clones (RZPD - Berlin)
	PubMed
PubMed	76 Pubmed reference(s) in Entrez

Genes in title	automatic search in PubMed
REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written	09-2002	Dessen P, Le Minor S
Updated	03-2008	Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Sat Oct 18 14:47:12 2008