Gene

itpr1a

ID

ZDB-GENE-070604-3

Name

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

Symbol

itpr1a Nomenclature History

Previous Names

ITPR1b1 (1)
ITPR1b3 (1)

Type

protein_coding_gene

Location

Chr: 6 Mapping Details/Browsers

Description

Predicted to have inositol 1,4,5 trisphosphate binding activity and inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity. Predicted to be involved in calcium ion transmembrane transport. Predicted to localize to endoplasmic reticulum and integral component of membrane. 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

2 figures from 2 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: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With itpr1a 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 itpr1a Via Experimental Models

No data available

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	IPR035910	RyR/IP3 receptor binding core, RIH domain superfamily
Homologous_superfamily	IPR036300	Mir domain superfamily

Domain Details Per Protein

Protein	Length	Inositol 1,4,5-trisphosphate receptor	Inositol 1,4,5-trisphosphate/ryanodine receptor	Ion transport domain	Mir domain superfamily	MIR motif	RIH domain	Ryanodine/Inositol 1,4,5-trisphosphate receptor	RyR/IP3 receptor binding core, RIH domain superfamily	RyR/IP3R Homology associated domain
UniProtKB:A0A8M9PGB9 InterPro	2722
UniProtKB:A0A8M9QAB8 InterPro	2707
UniProtKB:A0A8M9PTD6 InterPro	2721
UniProtKB:A0A8M9QAC2 InterPro	2678
UniProtKB:A0A8M9Q732 InterPro	2165
UniProtKB:A0A8M9PGC5 InterPro	2694
UniProtKB:A0A8M3B3K9 InterPro	2696
UniProtKB:A0A8M3ATJ5 InterPro	2710
UniProtKB:A0A8M9PZD0 InterPro	2711
UniProtKB:A0A8M2BDG0 InterPro	2711
UniProtKB:F8W4B1 InterPro	2682
UniProtKB:A0A8M6YZS1 InterPro	2695
UniProtKB:A0A8M9Q5F0 InterPro	2706
UniProtKB:A0A8M6Z7H7 InterPro	2667
UniProtKB:A0A8M9PZD6 InterPro	2176
UniProtKB:A0A8M9PTE4 InterPro	2693
UniProtKB:A0A8M3B0M5 InterPro	2683

Transcripts

Genome Browsers

NCBI

Ensembl

ZFIN

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	itpr1a-201 (1) Ensembl	Ensembl	8,193 nt	Select Tool ZFIN BLAST
mRNA	itpr1a-202 (1) Ensembl	Ensembl	8,747 nt	Select Tool
mRNA	itpr1a-203 (1) Ensembl	Ensembl	8,124 nt	Select Tool ZFIN BLAST
mRNA	itpr1a-204 (1) Ensembl	Ensembl	1,785 nt	Select Tool ZFIN BLAST
mRNA	itpr1a-205 (1) Ensembl	Ensembl	8,238 nt	Select Tool ZFIN BLAST
mRNA	itpr1a-206 (1) Ensembl	Ensembl	8,181 nt	Select Tool ZFIN BLAST
mRNA	itpr1a-207 (1) Ensembl	Ensembl	2,127 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
Gene Tree: Ensembl

Citations