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-sensitive calcium-release 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. 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

4 figures from 3 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

No data available

Domain Details Per Protein

No data available

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