Gene

inpp5kb

ID
ZDB-GENE-100408-3
Name
inositol polyphosphate-5-phosphatase Kb
Symbol
inpp5kb Nomenclature History
Previous Names
  • inpp5k
Type
protein_coding_gene
Location
Chr: 10 Mapping Details/Browsers
Description
Predicted to have inositol bisphosphate phosphatase activity; phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity; and phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity. Involved in camera-type eye development and skeletal muscle fiber development. Predicted to localize to endoplasmic reticulum; plasma membrane; and ruffle. Human ortholog(s) of this gene implicated in congenital muscular dystrophy with cataracts and intellectual disability. Orthologous to human INPP5K (inositol polyphosphate-5-phosphatase K).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
1 figure from Osborn et al., 2017
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 inpp5kb Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
congenital muscular dystrophy with cataracts and intellectual disability Alliance Muscular dystrophy, congenital, with cataracts and intellectual disability 617404
Associated With inpp5kb Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR000300 Inositol polyphosphate-related phosphatase
Domain IPR005135 Endonuclease/exonuclease/phosphatase
Domain IPR041611 SKICH domain
Homologous_superfamily IPR036691 Endonuclease/exonuclease/phosphatase superfamily
Domain Details Per Protein
Protein Length Endonuclease/exonuclease/phosphatase Endonuclease/exonuclease/phosphatase superfamily Inositol polyphosphate-related phosphatase SKICH domain
UniProtKB:F1Q8H1 468
UniProtKB:A0A2R8QKI3 526
UniProtKB:A0A2R8PVH1 477
UniProtKB:F8W290 459
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