Gene Gene information from NCBI Gene database.
Entrez ID 138429
Gene name Phosphatidylinositol-4-phosphate 5-kinase like 1
Gene symbol PIP5KL1
Synonyms (NCBI Gene)
PIPKH
Chromosome 9
Chromosome location 9q34.11
Summary PIP5KL1 is a phosphoinositide kinase-like protein that lacks intrinsic lipid kinase activity but associates with type I PIPKs (see PIP5K1A; MIM 603275) and may play a role in localization of PIPK activity (Chang et al., 2004 [PubMed 14701839]).[supplied b
miRNA miRNA information provided by mirtarbase database.
13
miRTarBase ID miRNA Experiments Reference
MIRT016777 hsa-miR-335-5p Microarray 18185580
MIRT1236057 hsa-miR-1271 CLIP-seq
MIRT1236058 hsa-miR-1285 CLIP-seq
MIRT1236059 hsa-miR-1288 CLIP-seq
MIRT1236060 hsa-miR-2277-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0005524 Function ATP binding IEA
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IDA
GO:0005886 Component Plasma membrane IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612865 28711 ENSG00000167103
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5T9C9
Protein name Phosphatidylinositol 4-phosphate 5-kinase-like protein 1 (PI(4)P 5-kinase-like protein 1) (PtdIns(4)P-5-kinase-like protein 1) (EC 2.7.1.68)
Protein function May act as a scaffold to localize and regulate type I PI(4)P 5-kinases to specific compartments within the cell, where they generate PI(4,5)P2 for actin nucleation, signaling and scaffold protein recruitment and conversion to PI(3,4,5)P3. {ECO:0
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01504 PIP5K 128 392 Phosphatidylinositol-4-phosphate 5-Kinase Family
Sequence
Sequence length 394
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Inositol phosphate metabolism
Metabolic pathways
Endocytosis
 
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CATARACT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GOUT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Carcinoma in situ of stomach Stomach Carcinoma BEFREE 19680787
★☆☆☆☆
Found in Text Mining only
cervical cancer Cervical Cancer BEFREE 19947914
★☆☆☆☆
Found in Text Mining only
Cervix carcinoma Cervix carcinoma BEFREE 19947914
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of stomach Stomach Neoplasms BEFREE 19680787
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 19680787, 19947914
★☆☆☆☆
Found in Text Mining only
Malignant tumor of cervix Cervical Tumor BEFREE 19947914
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 19947914
★☆☆☆☆
Found in Text Mining only
Stomach Carcinoma Stomach Carcinoma BEFREE 19680787
★☆☆☆☆
Found in Text Mining only