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 DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription, DNA-templated. Predicted to localize to endoplasmic reticulum membrane 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
Thisse Expression Data
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
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 RyR/IP3 receptor binding core, RIH domain superfamily RyR/IP3R Homology associated domain
UniProtKB:A0A2R8QEU6 594
UniProtKB:F8W4B1 2682
UniProtKB:A0A2R8QBV7 2726
UniProtKB:A0A2R8QFQ7 708
UniProtKB:A0A2R8PWX1 2730
UniProtKB:A0A2R8QAR1 2745
UniProtKB:A0A2R8Q201 2715
UniProtKB:A0A2R8QHB5 2707
UniProtKB:A0A2R8QJM5 2707
UniProtKB:E7F4G8 2730
UniProtKB:A0A2R8RSY9 2726
UniProtKB:A0A2R8RZ36 2745
UniProtKB:A0A2R8Q5G2 990
Transcripts
Genome Browsers
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