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. 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

5 figures from 3 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

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

Human Disease	Fish	Conditions	Citations
congenital muscular dystrophy with cataracts and intellectual disability	AB + MO2-inpp5ka	standard conditions	Osborn et al., 2017
muscular dystrophy-dystroglycanopathy type B1	AB + MO2-inpp5ka	standard conditions	Osborn et al., 2017

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR000300	Inositol polyphosphate-related phosphatase
Domain	IPR041611	SKICH domain
Family	IPR046985	Inositol 5-phosphatase
Homologous_superfamily	IPR036691	Endonuclease/exonuclease/phosphatase superfamily

Domain Details Per Protein

Protein	Length	Endonuclease/exonuclease/phosphatase superfamily	Inositol 5-phosphatase	Inositol polyphosphate-related phosphatase	SKICH domain
UniProtKB:A0A8M3B177 InterPro	537
UniProtKB:A4QP54 InterPro	456
UniProtKB:A0A8M2B3T4 InterPro	485
UniProtKB:A0A8M1ND52 InterPro	476
UniProtKB:A0A8M3AHJ9 InterPro	546