Gene

itpr1b

ID

ZDB-GENE-070604-2

Name

inositol 1,4,5-trisphosphate receptor, type 1b

Symbol

itpr1b Nomenclature History

Previous Names

ITPR1b2 (1)
ITPRx (1)
zmp:0000000743

Type

protein_coding_gene

Location

Chr: 11 Mapping Details/Browsers

Description

Predicted to enable inositol 1,4,5 trisphosphate binding activity and inositol 1,4,5-trisphosphate-gated calcium channel activity. Acts upstream of or within atrioventricular canal development; cranial skeletal system development; and determination of heart left/right asymmetry. Predicted to be located in endoplasmic reticulum membrane and transport vesicle membrane. Is expressed in Purkinje cell; cerebellum; granule cell; hindbrain; and optic tectum. Used to study congenital heart disease. Human ortholog(s) of this gene implicated in Gillespie syndrome; spinocerebellar ataxia type 15; and spinocerebellar ataxia type 29. Orthologous to human ITPR1 (inositol 1,4,5-trisphosphate receptor type 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

7 figures from 4 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 5 figures from 2 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With itpr1b Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
Gillespie syndrome	Alliance	Gillespie syndrome	206700
spinocerebellar ataxia type 15	Alliance	Spinocerebellar ataxia 15	606658
spinocerebellar ataxia type 29	Alliance	Spinocerebellar ataxia 29, congenital nonprogressive	117360

Associated With itpr1b Via Experimental Models

Human Disease	Fish	Conditions	Citations
congenital heart disease	AB/TL + MO1-itpr1b	standard conditions	Izarzugaza et al., 2020

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR000699	RIH domain
Domain	IPR005821	Ion transport domain
Domain	IPR013662	RyR/IP3R Homology associated domain
Domain	IPR014821	Inositol 1,4,5-trisphosphate/ryanodine receptor
Domain	IPR016093	MIR motif
Family	IPR000493	Inositol 1,4,5-trisphosphate receptor
Family	IPR015925	Ryanodine/Inositol 1,4,5-trisphosphate receptor
Homologous_superfamily	IPR016024	Armadillo-type fold
Homologous_superfamily	IPR035910	RyR/IP3 receptor binding core, RIH domain superfamily
Homologous_superfamily	IPR036300	Mir domain superfamily

Domain Details Per Protein

Protein	Additional Resources	Length
UniProtKB:A0AB32TXG4	InterPro	2822
UniProtKB:A0AB32TXI0	InterPro	2722
UniProtKB:A0AB32TXI4	InterPro	2762
UniProtKB:A0AB32TY48	InterPro	2809
UniProtKB:A0AB32TZL3	InterPro	2810
UniProtKB:A0AB32TZV0	InterPro	2798
UniProtKB:A0AB32U088	InterPro	2807
UniProtKB:A0AB32U0N8	InterPro	2797
UniProtKB:A0AB32U0V1	InterPro	2812
UniProtKB:A0AB32U0W5	InterPro	2759
UniProtKB:A0AB32U276	InterPro	2810
UniProtKB:A0AB32U288	InterPro	2719
UniProtKB:A0AB32U2J4	InterPro	2790
UniProtKB:A0AB32U2V7	InterPro	2782
UniProtKB:A0AB32U3N4	InterPro	2787
UniProtKB:A0AB32U3T7	InterPro	2800
UniProtKB:A0AB32U3W1	InterPro	2767
UniProtKB:A0AB32U4T8	InterPro	2783

Transcripts

Genome Browsers

NCBI

Ensembl

ZFIN

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	itpr1b-201 (1) Ensembl	Ensembl	9,633 nt	Select Tool ZFIN BLAST
mRNA	itpr1b-202 (1) Ensembl	Ensembl	8,196 nt	Select Tool ZFIN BLAST
mRNA	itpr1b-203 (1) Ensembl	Ensembl	7,746 nt	Select Tool ZFIN BLAST
mRNA	itpr1b-204 (1) Ensembl	Ensembl	1,788 nt	Select Tool ZFIN BLAST
mRNA	itpr1b-205 (1) Ensembl	Ensembl	7,602 nt	Select Tool ZFIN BLAST
mRNA	itpr1b-206 (1) Ensembl	Ensembl	8,154 nt	Select Tool ZFIN BLAST
mRNA	itpr1b-207 (1) Ensembl	Ensembl	8,223 nt	Select Tool ZFIN BLAST
mRNA	itpr1b-208 (1) Ensembl	Ensembl	7,917 nt	Select Tool ZFIN BLAST
mRNA	itpr1b-209 (1) Ensembl	Ensembl	8,148 nt	Select Tool ZFIN BLAST
mRNA	itpr1b-210 (1) Ensembl	Ensembl	7,731 nt	Select Tool ZFIN BLAST
mRNA	itpr1b-211 (1) Ensembl	Ensembl	7,743 nt	Select Tool ZFIN BLAST

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance

Citations