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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 enable ATP binding activity and phosphatidylinositol phosphate kinase activity. Predicted to act upstream of or within 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
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
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 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 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:A0A0R4IPY4 697
UniProtKB:A0A0R4IMB3 661
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