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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 enable ATP binding activity and phosphatidylinositol phosphate kinase activity. Predicted to act upstream of or within phosphatidylinositol metabolic process and phosphorylation. Is expressed in head and pronephric duct. 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
1 figure from Xu et al., 2018
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
4 figures from Xu et al., 2018
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 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 5-kinase, core
Family IPR023610 Phosphatidylinositol-4-phosphate 5-kinase
Homologous_superfamily IPR027483 Phosphatidylinositol-4-phosphate 5-kinase, C-terminal
Homologous_superfamily IPR027484 Phosphatidylinositol-4-phosphate 5-kinase, N-terminal
Domain Details Per Protein
Protein Length Phosphatidylinositol-4-phosphate 5-kinase Phosphatidylinositol-4-phosphate 5-kinase, core Phosphatidylinositol-4-phosphate 5-kinase, C-terminal Phosphatidylinositol-4-phosphate 5-kinase, N-terminal
UniProtKB:E7F4U5 682
UniProtKB:A0A2R8RYD9 577
UniProtKB:Q1LVG1 376
UniProtKB:A8KB45 274
UniProtKB:A0A2R8QSH8 672
UniProtKB:A0A2R8QI07 652
UniProtKB:A0A2R8Q455 639
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