Gene

inpp5e

ID
ZDB-GENE-050809-23
Name
inositol polyphosphate-5-phosphatase E
Symbol
inpp5e Nomenclature History
Previous Names
  • im:7152772
  • zgc:165612 (1)
Type
protein_coding_gene
Location
Chr: 5 Mapping Details/Browsers
Description
Predicted to have inositol-polyphosphate 5-phosphatase activity. Involved in several processes, including animal organ development; melanosome transport; and regulation of cilium assembly. Predicted to localize to integral component of membrane. Is expressed in eye and pronephric duct. Used to study Joubert syndrome. Human ortholog(s) of this gene implicated in Joubert syndrome and Joubert syndrome 1. Orthologous to human INPP5E (inositol polyphosphate-5-phosphatase E).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
3 figures from 3 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
9 figures from 3 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With inpp5e Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Joubert syndrome 1 Alliance Joubert syndrome 1 213300
Mental retardation, truncal obesity, retinal dystrophy, and micropenis 610156
Associated With inpp5e Via Experimental Models
Human Disease Fish Conditions Citations
Joubert syndrome inpp5etju62/tju62 standard conditions Xu et al., 2017
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR000300 Inositol polyphosphate-related phosphatase
Domain IPR005135 Endonuclease/exonuclease/phosphatase
Family IPR042478 72kDa inositol polyphosphate 5-phosphatase
Homologous_superfamily IPR036691 Endonuclease/exonuclease/phosphatase superfamily
Domain Details Per Protein
Protein Length 72kDa inositol polyphosphate 5-phosphatase Endonuclease/exonuclease/phosphatase Endonuclease/exonuclease/phosphatase superfamily Inositol polyphosphate-related phosphatase
UniProtKB:A0A0R4ISZ8 403
UniProtKB:A7E285 403
UniProtKB:A0A0R4INV4 584
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab2-inpp5e polyclonal IgG Rabbit
  • IHC
Proteintech
2
Ab1-inpp5e polyclonal IgG Mouse
  • IHC
  • WB
Abcam plc
2
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations