Gene

inpp5ka

ID
ZDB-GENE-070410-101
Name
inositol polyphosphate-5-phosphatase Ka
Symbol
inpp5ka Nomenclature History
Previous Names
  • zgc:162883 (1)
Type
protein_coding_gene
Location
Chr: 15 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 lens development in camera-type eye; neuromuscular junction development, skeletal muscle fiber; and somite development. Predicted to localize to endoplasmic reticulum; plasma membrane; and ruffle. Is expressed in head. Used to study congenital muscular dystrophy with cataracts and intellectual disability and muscular dystrophy-dystroglycanopathy. 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
2 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
4 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With inpp5ka 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 inpp5ka Via Experimental Models
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:A0A0R4IVB1 108
UniProtKB:A0A0R4IWP4 476
UniProtKB:A4QP54 456
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