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Aliases for REEP5 Gene

Aliases for REEP5 Gene

  • Receptor Accessory Protein 5 2 3 5
  • Polyposis Locus Protein 1 2 3 4
  • Polyposis Coli Region Hypothetical Protein DP1 2 3
  • Deleted In Polyposis 1 2 3
  • C5orf18 3 4
  • DP1 3 4
  • TB2 3 4
  • Receptor Expression-Enhancing Protein 5 3
  • Chromosome 5 Open Reading Frame 18 2
  • Protein TB2 4
  • D5S346 3
  • Yip2e 3
  • YOP1 3

External Ids for REEP5 Gene

Previous HGNC Symbols for REEP5 Gene

  • C5orf18

Previous GeneCards Identifiers for REEP5 Gene

  • GC05M112240
  • GC05M112212
  • GC05M107391

Summaries for REEP5 Gene

GeneCards Summary for REEP5 Gene

REEP5 (Receptor Accessory Protein 5) is a Protein Coding gene. Among its related pathways are Signaling by GPCR and Olfactory Signaling Pathway. An important paralog of this gene is REEP6.

UniProtKB/Swiss-Prot for REEP5 Gene

  • May promote functional cell surface expression of olfactory receptors.

Gene Wiki entry for REEP5 Gene

Additional gene information for REEP5 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for REEP5 Gene

Genomics for REEP5 Gene

GeneHancer (GH) Regulatory Elements for REEP5 Gene

Promoters and enhancers for REEP5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05I112920 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 565.9 -0.4 -380 5.2 HDGF PKNOX1 FOXA2 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 REEP5 LOC105379123 SRP19 YTHDC2 ENSG00000251187 GC05P112932
GH05I112737 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 11.8 +184.6 184628 1.7 HDGF HNRNPUL1 PKNOX1 CLOCK ARNT ARID4B SIN3A ZNF2 YY1 POLR2B APC REEP5 YTHDC2 CBX3P3
GH05I112706 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 10.7 +214.5 214488 3.1 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 POLR2B ZNF207 APC REEP5 YTHDC2 CBX3P3 RNU6-482P ZRSR2P1
GH05I112882 Enhancer 0.7 FANTOM5 14.3 +39.3 39261 0.6 HDAC1 MEIS2 PKNOX1 MTA2 SOX6 TEAD4 TAL1 CBFA2T3 MNT TCF12 GC05P112886 XBP1P1 SRP19 REEP5 APC ENSG00000272869
GH05I112683 Enhancer 1 FANTOM5 Ensembl ENCODE 9.9 +237.4 237433 2.6 PKNOX1 JUND IKZF1 EBF1 BMI1 IKZF2 SPI1 ZRSR2P1 REEP5 DCP2 LOC102467216 APC
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around REEP5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the REEP5 gene promoter:

Genomic Locations for REEP5 Gene

Genomic Locations for REEP5 Gene
chr5:112,876,379-112,922,539
(GRCh38/hg38)
Size:
46,161 bases
Orientation:
Minus strand
chr5:112,212,081-112,258,236
(GRCh37/hg19)

Genomic View for REEP5 Gene

Genes around REEP5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
REEP5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for REEP5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for REEP5 Gene

Proteins for REEP5 Gene

  • Protein details for REEP5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q00765-REEP5_HUMAN
    Recommended name:
    Receptor expression-enhancing protein 5
    Protein Accession:
    Q00765
    Secondary Accessions:
    • B7Z681
    • D3DT04
    • Q04198
    • Q5QGT0
    • Q9BWH9

    Protein attributes for REEP5 Gene

    Size:
    189 amino acids
    Molecular mass:
    21493 Da
    Quaternary structure:
    • Interacts with ATL1 (By similarity). Interacts with ATL2 (PubMed:19665976). Interacts with ZFYVE27 (PubMed:23969831).
    SequenceCaution:
    • Sequence=AAA60136.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAA66351.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH65926.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for REEP5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for REEP5 Gene

Post-translational modifications for REEP5 Gene

  • Ubiquitination at isoforms=216, Lys147, and isoforms=157

Other Protein References for REEP5 Gene

No data available for DME Specific Peptides for REEP5 Gene

Domains & Families for REEP5 Gene

Gene Families for REEP5 Gene

Protein Domains for REEP5 Gene

Graphical View of Domain Structure for InterPro Entry

Q00765

UniProtKB/Swiss-Prot:

REEP5_HUMAN :
  • Belongs to the DP1 family.
Family:
  • Belongs to the DP1 family.
genes like me logo Genes that share domains with REEP5: view

Function for REEP5 Gene

Molecular function for REEP5 Gene

UniProtKB/Swiss-Prot Function:
May promote functional cell surface expression of olfactory receptors.

Phenotypes From GWAS Catalog for REEP5 Gene

Gene Ontology (GO) - Molecular Function for REEP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 16762630
genes like me logo Genes that share ontologies with REEP5: view
genes like me logo Genes that share phenotypes with REEP5: view

Animal Model Products

CRISPR Products

miRNA for REEP5 Gene

miRTarBase miRNAs that target REEP5

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for REEP5 Gene

Localization for REEP5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for REEP5 Gene

Membrane; Multi-pass membrane protein. Endoplasmic reticulum. Note=Localizes to endoplasmic reticulum tubular network. {ECO:0000269 PubMed:23969831}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for REEP5 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
cytosol 3
nucleus 2
plasma membrane 1
cytoskeleton 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for REEP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0070062 extracellular exosome IDA,HDA 23376485
GO:0071782 endoplasmic reticulum tubular network IDA 23969831
genes like me logo Genes that share ontologies with REEP5: view

Pathways & Interactions for REEP5 Gene

genes like me logo Genes that share pathways with REEP5: view

Pathways by source for REEP5 Gene

Gene Ontology (GO) - Biological Process for REEP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with REEP5: view

No data available for SIGNOR curated interactions for REEP5 Gene

Drugs & Compounds for REEP5 Gene

(4) Drugs for REEP5 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Citalopram Approved Pharma 526
Fluoxetine Approved, Vet_approved Pharma Channel blocker 245
Paroxetine Approved, Investigational Pharma Inhibition, Inhibitor 236
Sertraline Approved Pharma Inhibition, Inhibitor 306
genes like me logo Genes that share compounds with REEP5: view

Transcripts for REEP5 Gene

Unigene Clusters for REEP5 Gene

Receptor accessory protein 5:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for REEP5 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b
SP1: - - - -
SP2: - - - - -
SP3: - - -
SP4:
SP5: -

Relevant External Links for REEP5 Gene

GeneLoc Exon Structure for
REEP5
ECgene alternative splicing isoforms for
REEP5

Expression for REEP5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for REEP5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for REEP5 Gene

This gene is overexpressed in Nasal epithelium (11.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for REEP5 Gene



Protein tissue co-expression partners for REEP5 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of REEP5 Gene:

REEP5

SOURCE GeneReport for Unigene cluster for REEP5 Gene:

Hs.429608

mRNA Expression by UniProt/SwissProt for REEP5 Gene:

Q00765-REEP5_HUMAN
Tissue specificity: Expressed in circumvallate papillae and testis.

Evidence on tissue expression from TISSUES for REEP5 Gene

  • Nervous system(5)
  • Skin(4.5)
  • Liver(4.4)
  • Eye(4.2)
  • Kidney(3.5)
  • Intestine(2.9)
  • Lung(2.8)
  • Blood(2.1)
  • Thyroid gland(2.1)
  • Lymph node(2)
genes like me logo Genes that share expression patterns with REEP5: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for REEP5 Gene

Orthologs for REEP5 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for REEP5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia REEP5 33 34
  • 99.82 (n)
mouse
(Mus musculus)
Mammalia Reep5 33 16 34
  • 90.48 (n)
cow
(Bos Taurus)
Mammalia REEP5 34 33
  • 89.77 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LOC479137 33
  • 89.25 (n)
REEP5 34
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia REEP5 34
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Reep5 33
  • 88.89 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia REEP5 34
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves REEP5 34 33
  • 80.78 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia REEP5 34
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia reep5 33
  • 74.96 (n)
Str.6213 33
zebrafish
(Danio rerio)
Actinopterygii reep5 33 34 34
  • 71.12 (n)
-- 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8928 33
fruit fly
(Drosophila melanogaster)
Insecta CG8331 33 34
  • 58.8 (n)
CG4960 34
  • 41 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004819 33
  • 55.49 (n)
worm
(Caenorhabditis elegans)
Secernentea yop-1 33 34
  • 53.33 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E06601g 33
  • 46.93 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YOP1 33 34 36
  • 46.09 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR063W 33
  • 45.9 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU06702 33
  • 55.06 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes yop1 33
  • 50.97 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11316 34
  • 48 (a)
OneToMany
Species where no ortholog for REEP5 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for REEP5 Gene

ENSEMBL:
Gene Tree for REEP5 (if available)
TreeFam:
Gene Tree for REEP5 (if available)

Paralogs for REEP5 Gene

Paralogs for REEP5 Gene

(4) SIMAP similar genes for REEP5 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with REEP5: view

Variants for REEP5 Gene

Sequence variations from dbSNP and Humsavar for REEP5 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1000001302 -- 112,907,516(-) G/A intron_variant
rs1000051314 -- 112,895,273(-) G/A intron_variant
rs1000138368 -- 112,910,827(-) C/T intron_variant
rs1000168520 -- 112,917,242(-) C/T intron_variant
rs1000200103 -- 112,917,480(-) C/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for REEP5 Gene

Variant ID Type Subtype PubMed ID
esv2667456 CNV deletion 23128226
esv26872 CNV loss 19812545
esv2730601 CNV deletion 23290073
esv2763866 CNV loss 21179565
esv3566464 CNV deletion 23714750
esv3570349 CNV loss 25503493
esv3606302 CNV loss 21293372
nsv4960 CNV deletion 18451855
nsv599394 CNV gain 21841781
nsv968976 CNV duplication 23825009

Variation tolerance for REEP5 Gene

Residual Variation Intolerance Score: 43.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.16; 39.19% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for REEP5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
REEP5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for REEP5 Gene

Disorders for REEP5 Gene

Additional Disease Information for REEP5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for REEP5 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for REEP5 Gene

Publications for REEP5 Gene

  1. RTP family members induce functional expression of mammalian odorant receptors. (PMID: 15550249) Saito H … Matsunami H (Cell 2004) 2 3 4 58
  2. Protrudin binds atlastins and endoplasmic reticulum-shaping proteins and regulates network formation. (PMID: 23969831) Chang J … Blackstone C (Proceedings of the National Academy of Sciences of the United States of America 2013) 3 4 58
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
  4. Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies. (PMID: 18839057) Lesch KP … Jacob C (Journal of neural transmission (Vienna, Austria : 1996) 2008) 3 44 58
  5. Inherited ACTH insensitivity illuminates the mechanisms of ACTH action. (PMID: 16271481) Clark AJ … Huebner A (Trends in endocrinology and metabolism: TEM 2005) 2 3 58

Products for REEP5 Gene

Sources for REEP5 Gene

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