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PRR5 proline rich 5 [ Homo sapiens (human) ]

Gene ID: 55615, updated on 7-Jun-2020

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
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

Genomic context

See PRR5 in Genome Data Viewer
Location:
22q13.31
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (44668547..44737681)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (45064427..45133561)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 229 Neighboring gene uncharacterized LOC105373060 Neighboring gene acidic nuclear phosphoprotein 32 family member B pseudogene 2 Neighboring gene PRR5-ARHGAP8 readthrough Neighboring gene Rho GTPase activating protein 8 Neighboring gene uncharacterized LOC105373062 Neighboring gene PHD finger protein 21B Neighboring gene ribosomal protein L6 pseudogene 28

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Bipolar disorder with comorbid binge eating history: A genome-wide association study implicates APOB.
NHGRI GWA Catalog
Family-based genome-wide association study of frontal θ oscillations identifies potassium channel gene KCNJ6.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Readthrough PRR5-ARHGAP8

Readthrough gene: PRR5-ARHGAP8, Included gene: ARHGAP8

Homology

Clone Names

  • FLJ20185

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
TORC2 signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
activation of protein kinase B activity TAS
Traceable Author Statement
more info
 
cell cycle IEA
Inferred from Electronic Annotation
more info
 
positive regulation of phosphatidylinositol 3-kinase signaling IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
TORC2 complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
TORC2 complex IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 

General protein information

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)

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
    5001..74135
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001017528.2NP_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/Swiss-Prot
    P85299
    UniProtKB/TrEMBL
    A0A024R4U5
    Related
    ENSP00000480357.1, ENST00000611394.4
    Conserved Domains (2) summary
    PHA03326
    Location:220320
    PHA03326; nuclear egress membrane protein; Provisional
    pfam08539
    Location:30149
    HbrB; HbrB-like
  2. NM_001017529.2NP_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:134234
    PHA03326; nuclear egress membrane protein; Provisional
    pfam08539
    Location:163
    HbrB; HbrB-like
  3. NM_001017530.1NP_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
    ENSP00000485597.1, ENST00000624862.3
    Conserved Domains (2) summary
    PHA03326
    Location:134234
    PHA03326; nuclear egress membrane protein; Provisional
    pfam08539
    Location:163
    HbrB; HbrB-like
  4. NM_001198721.2NP_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/Swiss-Prot
    P85299
    Related
    ENSP00000384848.1, ENST00000403581.5
    Conserved Domains (2) summary
    PHA03326
    Location:252352
    PHA03326; nuclear egress membrane protein; Provisional
    pfam08539
    Location:62181
    HbrB; HbrB-like
  5. NM_015366.4NP_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/Swiss-Prot
    P85299
    UniProtKB/TrEMBL
    A0A024R4U5
    Related
    ENSP00000006251.7, ENST00000006251.11
    Conserved Domains (2) summary
    PHA03326
    Location:220320
    PHA03326; nuclear egress membrane protein; Provisional
    pfam08539
    Location:30149
    HbrB; HbrB-like
  6. NM_181333.4NP_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
    P85299
    UniProtKB/TrEMBL
    A8K699
    Related
    ENSP00000337464.6, ENST00000336985.11
    Conserved Domains (2) summary
    PHA03326
    Location:229329
    PHA03326; nuclear egress membrane protein; Provisional
    pfam08539
    Location:39158
    HbrB; HbrB-like

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    44668547..44737681
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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