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PRR5 proline rich 5 [ Homo sapiens (human) ]

Gene ID: 55615, updated on 2-Nov-2024

Summary

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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
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Genomic context

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See PRR5 in Genome Data Viewer
Location:
22q13.31
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (44668751..44737681)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (45152476..45221409)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (45064631..45133561)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19212 Neighboring gene uncharacterized LOC124905132 Neighboring gene acidic nuclear phosphoprotein 32 family member B pseudogene 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45075286-45076182 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45079991-45080530 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45081707-45082207 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45095169-45095709 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13869 Neighboring gene PRR5-ARHGAP8 readthrough Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:45102723-45103498 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45105554-45106385 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45110087-45110588 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45118011-45118847 Neighboring gene Sharpr-MPRA regulatory region 7347 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45120565-45121066 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45131503-45132091 Neighboring gene Rho GTPase activating protein 8 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:45175450-45175950 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45178826-45179382 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45181768-45182308 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45182309-45182849 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:45196797-45197331 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45202373-45202928 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45202929-45203484 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45211671-45212299 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13870 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45232905-45233406 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:45237719-45238416 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:45255234-45255928 Neighboring gene uncharacterized LOC105373062 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45259453-45260206 Neighboring gene uncharacterized LOC124905133 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr22:45264084-45265283

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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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Related articles in PubMed

  1. Bipolar disorder with binge eating behavior: a genome-wide association study implicates PRR5-ARHGAP8. McElroy SL, et al. Transl Psychiatry, 2018 Feb 2. PMID 29391396, Free PMC Article
  2. PRR5 encodes a conserved proline-rich protein predominant in kidney: analysis of genomic organization, expression, and mutation status in breast and colorectal carcinomas. Johnstone CN, et al. Genomics, 2005 Mar. PMID 15718101
  3. PRR5, a novel component of mTOR complex 2, regulates platelet-derived growth factor receptor beta expression and signaling. Woo SY, et al. J Biol Chem, 2007 Aug 31. PMID 17599906
  4. Functional Impacts of the BRCA1-mTORC2 Interaction in Breast Cancer. Krieger KL, et al. Int J Mol Sci, 2019 Nov 23. PMID 31771139, Free PMC Article
  5. Bipolar disorder with comorbid binge eating history: a genome-wide association study implicates APOB. Winham SJ, et al. J Affect Disord, 2014 Aug. PMID 24882193, Free PMC Article

See all (37) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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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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
Family-based genome-wide association study of frontal θ oscillations identifies potassium channel gene KCNJ6.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Readthrough PRR5-ARHGAP8

Readthrough gene: PRR5-ARHGAP8, Included gene: ARHGAP8

Homology

Clone Names

  • FLJ20185

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
  
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

  1. NG_029235.2 RefSeqGene

    Range
    38658..74135
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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

  3. 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

  4. 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

  5. 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

  6. 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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    44668751..44737681
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    45152476..45221409
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P85299.1 GenPept UniProtKB/Swiss-Prot:P85299

Gene LinkOut

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