REEP5 receptor accessory protein 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: REEP5provided by HGNC
Official Full Name: receptor accessory protein 5provided by HGNC
Primary source: HGNC:HGNC:30077
See related: Ensembl:ENSG00000129625 MIM:125265; AllianceGenome:HGNC:30077
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: DP1; TB2; YOP1; POB16; Yip2e; D5S346; C5orf18
Summary: Predicted to be involved in endoplasmic reticulum membrane organization and regulation of intracellular transport. Located in endoplasmic reticulum tubular network. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in thyroid (RPKM 89.7), brain (RPKM 63.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q22.2

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (112876385..112922227, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (113386924..113432758, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (112212082..112257924, complement)

Chromosome 5 - NC_000005.10 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?

The REEP5/TRAM1 complex binds SARS-CoV-2 NSP3 and promotes virus replication.
Title: The REEP5/TRAM1 complex binds SARS-CoV-2 NSP3 and promotes virus replication.
The sarco-endoplasmic reticulum (SR/ER) plays an important role in the development and progression of many heart diseases. Receptor accessory protein 5 (REEP5), a cardiac enriched, sarco-endoplasmic reticulum (SR/ER) membrane protein,is centrally involved in regulating SR/ER organization and cellular stress responses in cardiac myocytes.
Title: REEP5 depletion causes sarco-endoplasmic reticulum vacuolization and cardiac functional defects.
Depletion of receptor accessory proteins REEP5 and REEP6 causes a decrease in CXC Chemokine Receptor 1 (CXCR1) signaling.
Title: The accessory proteins REEP5 and REEP6 refine CXCR1-mediated cellular responses and lung cancer progression.
To determine the pathogenesis and treatment response of major depressive disorder. REEP5 gene polymorphisms may influence antidepressant treatment response in MDD.
Title: Association of APC and REEP5 gene polymorphisms with major depression disorder and treatment response to antidepressants in a Han Chinese population.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.

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
Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies. 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)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of receptor accessory protein 5 (REEP5) by siRNA has both activating and inhibiting activities on HIV-1 replication in HeLa P4/R5 cells, suggesting a regulatory role in HIV replication	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH71328 (e-PCR)
- UniSTS:44573

G15921 (e-PCR)
- UniSTS:41780

D5S2454 (e-PCR)
- UniSTS:23366

RH71327 (e-PCR)
- UniSTS:1863

D5S2375 (e-PCR)
- UniSTS:37448

bac53117T (e-PCR)
- UniSTS:181587

RH12409 (e-PCR)
- UniSTS:35450

RH66507 (e-PCR)
- UniSTS:86715

RH80911 (e-PCR)
- UniSTS:86723

D5S346 (e-PCR)
- UniSTS:146926

SGC30055 (e-PCR)
- UniSTS:66288

WI-15463 (e-PCR)
- UniSTS:64496

D5S2385 (e-PCR)
- UniSTS:52469

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 endoplasmic reticulum membrane organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in endoplasmic reticulum organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of intracellular transport	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info
located_in endoplasmic reticulum tubular network	IDA Inferred from Direct Assay more info	PubMed
located_in sarcoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: receptor expression-enhancing protein 5

Names: deleted in polyposis 1; polyposis coli region hypothetical protein DP1; polyposis locus protein 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.

mRNA and Protein(s)

NM_005669.5 → NP_005660.4 receptor expression-enhancing protein 5

Status: VALIDATED

Source sequence(s)

AC008575, BC000232, DA807043

Consensus CDS

CCDS4109.2

UniProtKB/Swiss-Prot

B7Z681, D3DT04, Q00765, Q04198, Q5QGT0, Q9BWH9

UniProtKB/TrEMBL

B2R6C4

Related

ENSP00000368959.4, ENST00000379638.9

Conserved Domains (1) summary

pfam03134
Location:67 → 144

TB2_DP1_HVA22; TB2/DP1, HVA22 family