ITPR1

inositol 1,4,5-trisphosphate receptor type 1

Tier: Cilia-Associated Genes

Ensembl:
ENSG00000150995
UniProt:
Q14643
OMIM:
147265
Synonyms:
ACV, INSP3R1, IP3R1, PPP1R94, SCA15, SCA16, SCA29

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:
abnormal embryo size, preweaning lethality, incomplete penetrance, small epididymis, embryonic growth retardation
Human ciliopathy phenotype:
Aniridia - cerebellar ataxia - intellectual disability; spinocerebellar ataxia type 29; aniridia-cerebellar ataxia-intellectual disability syndrome; spinocerebellar ataxia type 15/16

Ciliopathy associations

  • Spinocerebellar Ataxia

References: PMID:27908616, PMID:17932120, PMID:14981189

Subcellular localization

nucleus

Functional category

  • Ciliary assembly/disassembly
  • Metabolism
  • Viral interactions
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

Mutations in the ITPR1 gene cause Spinocerebellar Ataxia (PMID: 22986007, PMID:17590087).