PRR5 proline rich 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PRR5provided by HGNC
Official Full Name: proline rich 5provided by HGNC
Primary source: HGNC:HGNC:31682
See related: Ensembl:ENSG00000186654 MIM:609406; AllianceGenome:HGNC:31682
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: PP610; PROTOR1; PROTOR-1; FLJ20185k
Summary: This gene encodes a protein with a proline-rich domain. This gene is located in a region of chromosome 22 reported to contain a tumor suppressor gene that may be involved in breast and colorectal tumorigenesis. The protein is a component of the mammalian target of rapamycin complex 2 (mTORC2), and it regulates platelet-derived growth factor (PDGF) receptor beta expression and PDGF signaling to Akt and S6K1. Alternative splicing and the use of alternative promoters results in transcripts encoding different isoforms. Read-through transcripts from this gene into the downstream Rho GTPase activating protein 8 (ARHGAP8) gene also exist, which led to the original description of PRR5 and ARHGAP8 being a single gene. [provided by RefSeq, Nov 2010]
Expression: Broad expression in fat (RPKM 9.7), spleen (RPKM 8.6) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q13.31

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (44668751..44737681)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (45152476..45221409)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (45064631..45133561)

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?

Fusion protein PRR5-ARHGAP8 plays a role in bipolar disorder with binge eating behavior.
Title: Bipolar disorder with binge eating behavior: a genome-wide association study implicates PRR5-ARHGAP8.
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.
It was demonstrated that immunoprecipitation of Protor-1 or Protor-2 results in the co-immunoprecipitation of other mTORC2 subunits, but not Raptor, a specific component of mTORC1.
Title: Identification of Protor as a novel Rictor-binding component of mTOR complex-2.
The inhibition of Akt and S6K1 phosphorylation by PRR5 knock down correlates with reduction in the expression level of platelet-derived growth factor receptor beta (PDGFRbeta).
Title: PRR5, a novel component of mTOR complex 2, regulates platelet-derived growth factor receptor beta expression and signaling.
mRNA expression analyses revealed PRR5 overexpression in a majority of colorectal tumors but substantial downregulation of PRR5 expression in a subset of breast tumors and reduced expression in two breast cancer cell lines
Title: PRR5 encodes a conserved proline-rich protein predominant in kidney: analysis of genomic organization, expression, and mutation status in breast and colorectal carcinomas.

Submit: New GeneRIF Correction

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

EBI GWAS Catalog

Description
Bipolar disorder with comorbid binge eating history: A genome-wide association study implicates APOB. EBI GWAS Catalog EBI GWAS CatalogPubMed
Family-based genome-wide association study of frontal &#x003b8; oscillations identifies potassium channel gene KCNJ6. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

D11S2921 (e-PCR)
- UniSTS:152074

WI-17470 (e-PCR)
- UniSTS:37903

D10S275 (e-PCR)
- UniSTS:147992

AL022545 (e-PCR)
- UniSTS:37921

D8S2279 (e-PCR)
- UniSTS:473907

L18426 (e-PCR)
- UniSTS:34648

D1S1423 (e-PCR)
- UniSTS:149619

GDB:335751 (e-PCR)
- UniSTS:156601

RH121893 (e-PCR)
- UniSTS:94920

AL021663 (e-PCR)
- UniSTS:31436

G59517 (e-PCR)
- UniSTS:136680

D5S1597E (e-PCR)
- UniSTS:151019

Readthrough PRR5-ARHGAP8

Readthrough gene: PRR5-ARHGAP8, Included gene: ARHGAP8

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in TORC2 signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to nutrient levels	NAS Non-traceable Author Statement more info	PubMed
involved_in cytoskeleton organization	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of apoptotic process	NAS Non-traceable Author Statement more info	PubMed
involved_in phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell growth	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of protein phosphorylation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of TORC2 complex	IBA Inferred from Biological aspect of Ancestor more info
part_of TORC2 complex	IDA Inferred from Direct Assay more info	PubMed
part_of TORC2 complex	IPI Inferred from Physical Interaction more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: proline-rich protein 5

Names: Rho GTPase activating protein 8; proline rich 5 (renal); protein observed with Rictor-1

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_029235.2 RefSeqGene

Range

38658..74135

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001017528.3 → NP_001017528.1 proline-rich protein 5 isoform 2

See identical proteins and their annotated locations for NP_001017528.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream start codon, compared to variant 1. The resulting isoform (2) has a shorter N-terminus, compared to isoform 1. Both variants 2 and 3 encode the same isoform (2).

Source sequence(s)

BK005635

Consensus CDS

CCDS14059.1

UniProtKB/TrEMBL

B3KRM4

Related

ENSP00000400925.2, ENST00000432186.6

Conserved Domains (2) summary

PHA03326
Location:220 → 320

PHA03326; nuclear egress membrane protein; Provisional

pfam08539
Location:30 → 149

HbrB; HbrB-like
NM_001017529.3 → NP_001017529.1 proline-rich protein 5 isoform 3

See identical proteins and their annotated locations for NP_001017529.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream start codon, compared to variant 1. The resulting isoform (3) has a shorter N-terminus, compared to isoform 1. Both variants 4 and 5 encode the same isoform (3).

Source sequence(s)

BK005636

Consensus CDS

CCDS74875.1

UniProtKB/Swiss-Prot

P85299

Related

ENSP00000479623.1, ENST00000617066.4

Conserved Domains (2) summary

PHA03326
Location:134 → 234

PHA03326; nuclear egress membrane protein; Provisional

pfam08539
Location:1 → 63

HbrB; HbrB-like
NM_001017530.2 → NP_001017530.1 proline-rich protein 5 isoform 3

See identical proteins and their annotated locations for NP_001017530.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream start codon, compared to variant 1. The resulting isoform (3) has a shorter N-terminus, compared to isoform 1. Both variants 4 and 5 encode the same isoform (3).

Source sequence(s)

BK005638

Consensus CDS

CCDS74875.1

UniProtKB/Swiss-Prot

P85299

Related

ENSP00000520433.1, ENST00000492475.6

Conserved Domains (2) summary

PHA03326
Location:134 → 234

PHA03326; nuclear egress membrane protein; Provisional

pfam08539
Location:1 → 63

HbrB; HbrB-like
NM_001198721.2 → NP_001185650.1 proline-rich protein 5 isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (6) differs in the 5' UTR and 5' coding region, compared to variant 1. The resulting isoform (4) has a distinct and longer N-terminus, compared to isoform 1.

Source sequence(s)

AK055848, BM682583, Z98743

Consensus CDS

CCDS56232.1

UniProtKB/TrEMBL

B3KRM4

Related

ENSP00000384848.1, ENST00000403581.5

Conserved Domains (2) summary

PHA03326
Location:252 → 352

PHA03326; nuclear egress membrane protein; Provisional

pfam08539
Location:62 → 181

HbrB; HbrB-like
NM_015366.4 → NP_056181.2 proline-rich protein 5 isoform 2

See identical proteins and their annotated locations for NP_056181.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream start codon, compared to variant 1. The resulting isoform (2) has a shorter N-terminus, compared to isoform 1. Both variants 2 and 3 encode the same isoform (2).

Source sequence(s)

BK005637

Consensus CDS

CCDS14059.1

UniProtKB/TrEMBL

B3KRM4

Related

ENSP00000006251.7, ENST00000006251.11

Conserved Domains (2) summary

PHA03326
Location:220 → 320

PHA03326; nuclear egress membrane protein; Provisional

pfam08539
Location:30 → 149

HbrB; HbrB-like
NM_181333.4 → NP_851850.1 proline-rich protein 5 isoform 1

See identical proteins and their annotated locations for NP_851850.1

Status: REVIEWED

Description

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

Source sequence(s)

BK005639

Consensus CDS

CCDS14058.1

UniProtKB/Swiss-Prot

B1AHF6, B1AHG5, B3KP73, O75983, O95695, P85299, Q5BIW2, Q5EAJ8, Q5EAJ9, Q5XKJ6, Q96RW1, Q96RW2, Q9HA49, Q9HC46, Q9NSG0, Q9NVX8, Q9NXL1, Q9UH20

UniProtKB/TrEMBL

A8K699, B3KRM4

Related

ENSP00000337464.6, ENST00000336985.11

Conserved Domains (2) summary

PHA03326
Location:229 → 329

PHA03326; nuclear egress membrane protein; Provisional

pfam08539
Location:39 → 158

HbrB; HbrB-like