Gene Gene information from NCBI Gene database.
Entrez ID 113791
Gene name Phosphoinositide-3-kinase interacting protein 1
Gene symbol PIK3IP1
Synonyms (NCBI Gene)
HGFLTrIPhHGFL(S)
Chromosome 22
Chromosome location 22q12.2
miRNA miRNA information provided by mirtarbase database.
279
miRTarBase ID miRNA Experiments Reference
MIRT020011 hsa-miR-375 Microarray 20215506
MIRT1234207 hsa-let-7a CLIP-seq
MIRT1234208 hsa-let-7b CLIP-seq
MIRT1234209 hsa-let-7c CLIP-seq
MIRT1234210 hsa-let-7d CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
GO ID Ontology Definition Evidence Reference
GO:0004175 Function Endopeptidase activity IBA
GO:0005102 Function Signaling receptor binding IBA
GO:0005515 Function Protein binding IPI 25416956, 32296183
GO:0005615 Component Extracellular space IBA
GO:0005886 Component Plasma membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
619158 24942 ENSG00000100100
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96FE7
Protein name Phosphoinositide-3-kinase-interacting protein 1 (PI3K-interacting protein 1) (Kringle domain-containing protein HGFL)
Protein function Negative regulator of hepatic phosphatidylinositol 3-kinase (PI3K) activity.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00051 Kringle 25 101 Kringle domain Domain
Sequence
MLLAWVQAFLVSNMLLAEAYGSGGCFWDNGHLYREDQTSPAPGLRCLNWLDAQSGLASAP
VSGAGNHSYCRNPDEDPRGPWCYVSGEAGVPEKRPCEDLRC
PETTSQALPAFTTEIQEAS
EGPGADEVQVFAPANALPARSEAAAVQPVIGISQRVRMNSKEKKDLGTLGYVLGITMMVI
IIAIGAGIILGYSYKRGKDLKEQHDQKVCEREMQRITLPLSAFTNPTCEIVDEKTVVVHT
SQTPVDPQEGTTPLMGQAGTPGA
Sequence length 263
Interactions View interactions
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
EBV-positive nodal T- and NK-cell lymphoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEART FAILURE, DIASTOLIC CTD, Disgenet
CTD, Disgenet
★★☆☆☆
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
Brain Edema Brain edema Pubtator 24056404 Associate
★☆☆☆☆
Found in Text Mining only
Brain Ischemia Brain ischemia Pubtator 36077416 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 28938607
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 36549768 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 36701842 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 38049860 Associate
★☆☆☆☆
Found in Text Mining only
Hashimoto Disease Hashimoto disease Pubtator 34867951 Stimulate
★☆☆☆☆
Found in Text Mining only
Heart Failure, Diastolic Heart Failure CTD_human_DG 29556499
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Leukemia Myeloid Acute Myeloid leukemia Pubtator 36232694 Associate
★☆☆☆☆
Found in Text Mining only
Liver Failure, Acute Liver failure BEFREE 7912298
★☆☆☆☆
Found in Text Mining only