PIK3IP1 phosphoinositide-3-kinase interacting protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PIK3IP1provided by HGNC
Official Full Name: phosphoinositide-3-kinase interacting protein 1provided by HGNC
Primary source: HGNC:HGNC:24942
See related: Ensembl:ENSG00000100100 MIM:619158; AllianceGenome:HGNC:24942
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HGFL; TrIP; hHGFL(S)
Summary: Enables phosphatidylinositol 3-kinase catalytic subunit binding activity. Involved in negative regulation of phosphatidylinositol 3-kinase activity and negative regulation of phosphatidylinositol 3-kinase signaling. Predicted to be located in plasma membrane. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in lymph node (RPKM 60.4), appendix (RPKM 38.3) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q12.2

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (31281593..31292534, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (31745576..31756513, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (31677579..31688520, complement)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CircPDE5A-encoded novel regulator of the PI3K/AKT pathway inhibits esophageal squamous cell carcinoma progression by promoting USP14-mediated de-ubiquitination of PIK3IP1.
Title: CircPDE5A-encoded novel regulator of the PI3K/AKT pathway inhibits esophageal squamous cell carcinoma progression by promoting USP14-mediated de-ubiquitination of PIK3IP1.
Downregulation of PIK3IP1 in retinal microglia promotes retinal pathological neovascularization via PI3K-AKT pathway activation.
Title: Downregulation of PIK3IP1 in retinal microglia promotes retinal pathological neovascularization via PI3K-AKT pathway activation.
Pik3ip1 Is a Negative Immune Regulator that Inhibits Antitumor T-Cell Immunity.
Title: Pik3ip1 Is a Negative Immune Regulator that Inhibits Antitumor T-Cell Immunity.
Findings indicate that colon cancer associated transcript 1 (non-protein coding) (CCAT1) was upregulated in osteosarcoma tissues and cells, and was involved in the proliferation and migration of osteosarcoma via regulating miR-148a/phosphatidyl inositol 3-kinase interacting protein 1 (PIK3IP1) signal pathway.
Title: Long non-coding RNA CCAT1/miR-148a axis promotes osteosarcoma proliferation and migration through regulating PIK3IP1.
These results suggest that the novel PI3K regulator PIK3IP1 plays an inhibitory role in T-cell activation.
Title: Inhibition of T-cell activation by PIK3IP1.
PIK3IP1-v1 is a novel splicing isoform of PIK3IP1. Both of them are located on cell membrane and can induce cell apoptosis.
Title: [Both PIK3IP1 and its novel found splicing isoform, PIK3IP1-v1, are located on cell membrane and induce cell apoptosis].
PIK3IP1 is an important regulator of PI3K in vivo, and its dysregulation can contribute to liver carcinogenesis
Title: PIK3IP1, a negative regulator of PI3K, suppresses the development of hepatocellular carcinoma.
PIK3IP1 directly binds to the p110 catalytic subunit and down modulates PI3K activity. Suggested that PIK3IP1 is a new type of PI3K regulator.
Title: PI3K is negatively regulated by PIK3IP1, a novel p110 interacting protein.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH47917 (e-PCR)
- UniSTS:30726

HSC29H062 (e-PCR)
- UniSTS:36121

MGC17330__7680 (e-PCR)
- UniSTS:467773

G20845 (e-PCR)
- UniSTS:56912

A006I21 (e-PCR)
- UniSTS:56913

G54059 (e-PCR)
- UniSTS:109441

A008O47 (e-PCR)
- UniSTS:57220

D11S3114 (e-PCR)
- UniSTS:152207

WI-14622 (e-PCR)
- UniSTS:30456

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol 3-kinase inhibitor activity	IPI Inferred from Physical Interaction more info	PubMed
enables phosphatidylinositol 3-kinase inhibitor activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: phosphoinositide-3-kinase-interacting protein 1

Names: PI3K-interacting protein 1; kringle domain-containing protein HGFL; transmembrane inhibitor of PI3K

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001135911.1 → NP_001129383.1 phosphoinositide-3-kinase-interacting protein 1 isoform 2 precursor

See identical proteins and their annotated locations for NP_001129383.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) is missing the penultimate coding exon compared to transcript variant 1. This results in a frame-shift, early translation termination and a shorter isoform (2) with a distinct C-terminus compared to isoform 1.

Source sequence(s)

AC002073, AK299397, AW005175, DC412134

Consensus CDS

CCDS46690.1

UniProtKB/Swiss-Prot

Q96FE7

Related

ENSP00000415608.1, ENST00000441972.5

Conserved Domains (1) summary

cd00108
Location:22 → 102

KR; Kringle domain; Kringle domains are believed to play a role in binding mediators, such as peptides, other proteins, membranes, or phospholipids. They are autonomous structural domains, found in a varying number of copies, in blood clotting and ...
NM_052880.5 → NP_443112.2 phosphoinositide-3-kinase-interacting protein 1 isoform 1 precursor

See identical proteins and their annotated locations for NP_443112.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AC002073, AW005175, DC412134

Consensus CDS

CCDS13893.1

UniProtKB/Swiss-Prot

B4DRR9, D1MEI0, O00318, Q49A94, Q86YW2, Q8NCJ9, Q96FE7

UniProtKB/TrEMBL

B4DV97

Related

ENSP00000215912.4, ENST00000215912.10

Conserved Domains (1) summary

cd00108
Location:22 → 102

KR; Kringle domain; Kringle domains are believed to play a role in binding mediators, such as peptides, other proteins, membranes, or phospholipids. They are autonomous structural domains, found in a varying number of copies, in blood clotting and ...