Gene

pip5k1ca

ID

ZDB-GENE-050208-358

Name

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

Symbol

pip5k1ca Nomenclature History

Previous Names

pip5k1c (1)
si:ch211-197g15.13 (1)
si:dkey-29i9.1 (1)

Type

protein_coding_gene

Location

Chr: 22 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. Is expressed in head and pronephric duct. 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: 5 figures from 2 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With pip5k1ca 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 pip5k1ca 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:A0A8M3B5L6 InterPro	701
UniProtKB:E7F4U5 InterPro	682

Transcripts

Genome Browsers

NCBI

Ensembl

ZFIN

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	pip5k1ca-201 (1) Ensembl	Ensembl	2,558 nt	Select Tool
mRNA	pip5k1ca-202 (1) Ensembl	Ensembl	2,159 nt	Select Tool ZFIN BLAST
mRNA	pip5k1ca-203 (1) Ensembl	Ensembl	2,249 nt	Select Tool ZFIN BLAST
mRNA	pip5k1ca-204 (1) Ensembl	Ensembl	2,219 nt	Select Tool ZFIN BLAST
mRNA	pip5k1ca-205 (1) Ensembl	Ensembl	2,259 nt	Select Tool ZFIN BLAST
mRNA	pip5k1ca-206 (1) Ensembl	Ensembl	2,120 nt	Select Tool ZFIN BLAST

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