PIK3R5 phosphoinositide-3-kinase regulatory subunit 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PIK3R5provided by HGNC
Official Full Name: phosphoinositide-3-kinase regulatory subunit 5provided by HGNC
Primary source: HGNC:HGNC:30035
See related: Ensembl:ENSG00000141506 MIM:611317; AllianceGenome:HGNC:30035
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: p101; FOAP-2; P101-PI3K; F730038I15Rik
Summary: Phosphatidylinositol 3-kinases (PI3Ks) phosphorylate the inositol ring of phosphatidylinositol at the 3-prime position, and play important roles in cell growth, proliferation, differentiation, motility, survival and intracellular trafficking. The PI3Ks are divided into three classes: I, II and III, and only the class I PI3Ks are involved in oncogenesis. This gene encodes the 101 kD regulatory subunit of the class I PI3K gamma complex, which is a dimeric enzyme, consisting of a 110 kD catalytic subunit gamma and a regulatory subunit of either 55, 87 or 101 kD. This protein recruits the catalytic subunit from the cytosol to the plasma membrane through high-affinity interaction with G-beta-gamma proteins. Multiple alternatively spliced transcript variants encoding two distinct isoforms have been found. [provided by RefSeq, Oct 2011]
Expression: Biased expression in bone marrow (RPKM 25.8), spleen (RPKM 14.1) and 13 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17p13.1

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (8878916..8965707, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (8786072..8872872, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (8782233..8869024, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

PIK3R5 genetic predictors of hypertension induced by VEGF-pathway inhibitors.
Title: PIK3R5 genetic predictors of hypertension induced by VEGF-pathway inhibitors.
HCP5, as the sponge of miR-1291, facilitates AML cell proliferation and restrains apoptosis via increasing PIK3R5 expression.
Title: HCP5, as the sponge of miR-1291, facilitates AML cell proliferation and restrains apoptosis via increasing PIK3R5 expression.
G protein betagamma translocation to the Golgi apparatus activates MAPK via p110gamma-p101 heterodimers.
Title: G protein βγ translocation to the Golgi apparatus activates MAPK via p110γ-p101 heterodimers.
data argue for differential regulatory functions of the non-catalytic subunits and a specific Gbetagamma-dependent regulation of p101 in PI3Kgamma activation.
Title: Different inhibition of Gβγ-stimulated class IB phosphoinositide 3-kinase (PI3K) variants by a monoclonal antibody. Specific function of p101 as a Gβγ-dependent regulator of PI3Kγ enzymatic activity.
PIK3R5 promoter hypermethylation is associated with oral squamous cell carcinoma.
Title: Screening of differential promoter hypermethylated genes in primary oral squamous cell carcinoma.
expression and activities of PI3Kgamma are modified differently by p87 and p101 in vitro and in living cells, arguing for specific regulatory roles of the non-catalytic subunits in the differentiation of PI3Kgamma signaling pathways.
Title: p87 and p101 subunits are distinct regulators determining class IB phosphoinositide 3-kinase (PI3K) specificity.
Our characterization of the PIK3R5 protein and findings suggest that it may play a role in the development of the cerebellum and vermis.
Title: A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Polymorphisms in innate immunity genes and patients response to dendritic cell-based HIV immuno-treatment.
Observational study of gene-disease association. (HuGE Navigator)
Title: High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men.

Submit: New GeneRIF Correction See all GeneRIFs (13)

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

Associated conditions

Description	Tests
Ataxia with oculomotor apraxia type 3 MedGen: C3554690 OMIM: 615217 GeneReviews: Not available	Compare labs

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

AFMB322YG5 (e-PCR)
- UniSTS:39179

D17S1858 (e-PCR)
- UniSTS:15124

D17S786 (e-PCR), detects polymorphism
- UniSTS:57620

SHGC-144670 (e-PCR)
- UniSTS:172342

P101-PI3K__7041 (e-PCR)
- UniSTS:468576

RH16346 (e-PCR)
- UniSTS:34416

D17S786 (e-PCR), detects polymorphism
- UniSTS:61353

SGC34915 (e-PCR)
- UniSTS:60096

D17S755 (e-PCR), detects polymorphism
- UniSTS:45015

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 1-phosphatidylinositol-3-kinase regulator activity	IBA Inferred from Biological aspect of Ancestor more info
enables G-protein beta/gamma-subunit complex binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	EXP Inferred from Experiment more info	PubMed
involved_in G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in G protein-coupled receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in immune response	NAS Non-traceable Author Statement more info	PubMed
involved_in phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in phosphatidylinositol metabolic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of MAP kinase activity	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of MAP kinase activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in centriolar satellite	IDA Inferred from Direct Assay more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
part_of phosphatidylinositol 3-kinase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of phosphatidylinositol 3-kinase complex, class IA	EXP Inferred from Experiment more info	PubMed
part_of phosphatidylinositol 3-kinase complex, class IB	ISS Inferred from Sequence or Structural Similarity 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 regulatory subunit 5

Names: PI3-kinase p101 subunit; phosphatidylinositol 4,5-bisphosphate 3-kinase regulatory subunit; protein FOAP-2; ptdIns-3-kinase p101

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.

Genomic

NG_030374.1 RefSeqGene

Range

5006..91797

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001142633.3 → NP_001136105.1 phosphoinositide 3-kinase regulatory subunit 5 isoform 1

See identical proteins and their annotated locations for NP_001136105.1

Status: REVIEWED

Source sequence(s)

AB028925, AK309074, AY725854, BC028212

Consensus CDS

CCDS11147.1

UniProtKB/Swiss-Prot

B0LPH4, D3DTS3, Q5G936, Q5G938, Q5G939, Q8IZ23, Q8WYR1, Q9Y2Y2

UniProtKB/TrEMBL

L7RT34

Related

ENSP00000392812.1, ENST00000447110.6

Conserved Domains (1) summary

pfam10486
Location:6 → 880

PI3K_1B_p101; Phosphoinositide 3-kinase gamma adapter protein p101 subunit
NM_001251851.2 → NP_001238780.1 phosphoinositide 3-kinase regulatory subunit 5 isoform 2

See identical proteins and their annotated locations for NP_001238780.1

Status: REVIEWED

Source sequence(s)

AF128881, AK309074, AY725851, BC028212

Consensus CDS

CCDS73986.1

UniProtKB/Swiss-Prot

Q8WYR1

Conserved Domains (1) summary

pfam10486
Location:1 → 494

PI3K_1B_p101; Phosphoinositide 3-kinase gamma adapter protein p101 subunit
NM_001251852.2 → NP_001238781.1 phosphoinositide 3-kinase regulatory subunit 5 isoform 2

See identical proteins and their annotated locations for NP_001238781.1

Status: REVIEWED

Source sequence(s)

AF128881, AK309074, BC028212

Consensus CDS

CCDS73986.1

UniProtKB/Swiss-Prot

Q8WYR1

Related

ENSP00000484211.1, ENST00000616147.4

Conserved Domains (1) summary

pfam10486
Location:1 → 494

PI3K_1B_p101; Phosphoinositide 3-kinase gamma adapter protein p101 subunit
NM_001251853.2 → NP_001238782.1 phosphoinositide 3-kinase regulatory subunit 5 isoform 2

See identical proteins and their annotated locations for NP_001238782.1

Status: REVIEWED

Source sequence(s)

AB028925, AF128881, AK309074, AY725852, BC028212

Consensus CDS

CCDS73986.1

UniProtKB/Swiss-Prot

Q8WYR1

Related

ENSP00000477795.1, ENST00000611902.4

Conserved Domains (1) summary

pfam10486
Location:1 → 494

PI3K_1B_p101; Phosphoinositide 3-kinase gamma adapter protein p101 subunit
NM_001251855.2 → NP_001238784.1 phosphoinositide 3-kinase regulatory subunit 5 isoform 2

See identical proteins and their annotated locations for NP_001238784.1

Status: REVIEWED

Source sequence(s)

AF128881, AK309074, BC028212

Consensus CDS

CCDS73986.1

UniProtKB/Swiss-Prot

Q8WYR1

Related

ENSP00000485280.1, ENST00000623421.3

Conserved Domains (1) summary

pfam10486
Location:1 → 494

PI3K_1B_p101; Phosphoinositide 3-kinase gamma adapter protein p101 subunit
NM_001388396.1 → NP_001375325.1 phosphoinositide 3-kinase regulatory subunit 5 isoform 4

Status: REVIEWED

Source sequence(s)

AC002091, AC003695

Consensus CDS

CCDS92257.1

UniProtKB/TrEMBL

J3KSW1

Related

ENSP00000462680.1, ENST00000584803.1

Conserved Domains (1) summary

pfam10486
Location:6 → 879

PI3K_1B_p101; Phosphoinositide 3-kinase gamma adapter protein p101 subunit
NM_001388397.1 → NP_001375326.1 phosphoinositide 3-kinase regulatory subunit 5 isoform 2

Status: REVIEWED

Source sequence(s)

AC002091, AC003695

Consensus CDS

CCDS73986.1

Conserved Domains (1) summary

pfam10486
Location:1 → 494

PI3K_1B_p101; Phosphoinositide 3-kinase gamma adapter protein p101 subunit
NM_001388398.1 → NP_001375327.1 phosphoinositide 3-kinase regulatory subunit 5 isoform 2

Status: REVIEWED

Source sequence(s)

AC002091, AC003695

Consensus CDS

CCDS73986.1

Conserved Domains (1) summary

pfam10486
Location:1 → 494

PI3K_1B_p101; Phosphoinositide 3-kinase gamma adapter protein p101 subunit
NM_001388399.1 → NP_001375328.1 phosphoinositide 3-kinase regulatory subunit 5 isoform 2

Status: REVIEWED

Source sequence(s)

AC002091, AC003695

Consensus CDS

CCDS73986.1

Conserved Domains (1) summary

pfam10486
Location:1 → 494

PI3K_1B_p101; Phosphoinositide 3-kinase gamma adapter protein p101 subunit
NM_001388400.1 → NP_001375329.1 phosphoinositide 3-kinase regulatory subunit 5 isoform 3

Status: REVIEWED

Source sequence(s)

AC002091, AC003695

Conserved Domains (1) summary

pfam10486
Location:1 → 493

PI3K_1B_p101; Phosphoinositide 3-kinase gamma adapter protein p101 subunit
NM_014308.4 → NP_055123.2 phosphoinositide 3-kinase regulatory subunit 5 isoform 1

See identical proteins and their annotated locations for NP_055123.2

Status: REVIEWED

Source sequence(s)

AF128881, BC028212

Consensus CDS

CCDS11147.1

UniProtKB/Swiss-Prot

B0LPH4, D3DTS3, Q5G936, Q5G938, Q5G939, Q8IZ23, Q8WYR1, Q9Y2Y2

UniProtKB/TrEMBL

L7RT34

Related

ENSP00000462433.1, ENST00000581552.5

Conserved Domains (1) summary

pfam10486
Location:6 → 880

PI3K_1B_p101; Phosphoinositide 3-kinase gamma adapter protein p101 subunit

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

8878916..8965707 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047435709.1 → XP_047291665.1 phosphoinositide 3-kinase regulatory subunit 5 isoform X1

UniProtKB/Swiss-Prot

B0LPH4, D3DTS3, Q5G936, Q5G938, Q5G939, Q8IZ23, Q8WYR1, Q9Y2Y2

UniProtKB/TrEMBL

L7RT34
XM_047435711.1 → XP_047291667.1 phosphoinositide 3-kinase regulatory subunit 5 isoform X3
XM_047435710.1 → XP_047291666.1 phosphoinositide 3-kinase regulatory subunit 5 isoform X2

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

8786072..8872872 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054315631.1 → XP_054171606.1 phosphoinositide 3-kinase regulatory subunit 5 isoform X1

UniProtKB/Swiss-Prot

B0LPH4, D3DTS3, Q5G936, Q5G938, Q5G939, Q8IZ23, Q8WYR1, Q9Y2Y2

UniProtKB/TrEMBL

L7RT34
XM_054315633.1 → XP_054171608.1 phosphoinositide 3-kinase regulatory subunit 5 isoform X3
XM_054315632.1 → XP_054171607.1 phosphoinositide 3-kinase regulatory subunit 5 isoform X2