Gene

pip5k1cb

ID

ZDB-GENE-110408-21

Name

phosphatidylinositol-4-phosphate 5-kinase, type I, gamma b

Symbol

pip5k1cb Nomenclature History

Previous Names

si:ch211-117a23.4 (1)
si:ch211-243a15.1

Type

protein_coding_gene

Location

Chr: 2 Mapping Details/Browsers

Description

Predicted to have ATP binding activity and phosphatidylinositol phosphate kinase activity. Predicted to be involved in phosphatidylinositol metabolic process and phosphorylation. Human ortholog(s) of this gene implicated in lethal congenital contracture syndrome 3. Orthologous to human PIP5K1C (phosphatidylinositol-4-phosphate 5-kinase type 1 gamma).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

2 figures from 2 publications

Cross-Species Comparison

High Throughput Data

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: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With pip5k1cb Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
lethal congenital contracture syndrome 3	Alliance	Lethal congenital contractural syndrome 3	611369

Associated With pip5k1cb Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR002498	Phosphatidylinositol-4-phosphate 4/5-kinase, core
Family	IPR023610	Phosphatidylinositol-4/5-phosphate 5/4-kinase
Homologous_superfamily	IPR027483	Phosphatidylinositol-4-phosphate 4/5-kinase, C-terminal domain superfamily
Homologous_superfamily	IPR027484	Phosphatidylinositol-4-phosphate 5-kinase, N-terminal

Domain Details Per Protein

Protein	Length	Phosphatidylinositol-4/5-phosphate 5/4-kinase	Phosphatidylinositol-4-phosphate 4/5-kinase, core	Phosphatidylinositol-4-phosphate 4/5-kinase, C-terminal domain superfamily	Phosphatidylinositol-4-phosphate 5-kinase, N-terminal
UniProtKB:A0A8M2BIU0 InterPro	723
UniProtKB:A0A8M3AQI7 InterPro	725
UniProtKB:A0A8M3AXL7 InterPro	706
UniProtKB:A0A8M3B0K5 InterPro	720
UniProtKB:A0A0R4IPY4 InterPro	697
UniProtKB:A0A8M2BIV4 InterPro	746