Tbio REEP1 Receptor expression-enhancing protein 1

Protein Summary

Description

Required for endoplasmic reticulum (ER) network formation, shaping and remodeling; it links ER tubules to the cytoskeleton. May also enhance the cell surface expression of odorant receptors (PubMed:20200447). May play a role in long-term axonal maintenance (PubMed:24478229). This gene encodes a mitochondrial protein that functions to enhance the cell surface expression of odorant receptors. Mutations in this gene cause spastic paraplegia autosomal dominant type 31, a neurodegenerative disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

Uniprot Accession IDs

• Q9H902
• B7Z4D7
• B7Z4F2
• B7Z5R9
• D6W5M2
• Q53TI0

Gene Name

• REEP1

Ensembl ID

• ENST00000165698
• ENSP00000165698
• ENSG00000068615
• ENST00000453231
• ENSP00000392197
• ENST00000535845
• ENSP00000437567
• ENST00000541910
• ENSP00000442681

Symbol

• C2orf23
• SPG31
• HMN5B
• SPG31
• Yip2a
• C2orf23

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
PubMedID	0.84
transcription factor perturbation	0.8
cellular component	0.71
small molecule perturbation	0.67
microRNA	0.64

Protein Classes

PANTHER Classes

Protein / Transporter / Receptor Expression-enhancing Protein 1

Protein / Receptor / Receptor Expression-enhancing Protein 1

DTO Classes

Protein / Transporter / Receptor Expression-enhancing Protein 1

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 42.85   (req: < 5)

Gene RIFs: 21   (req: <= 3)

Antibodies: 195   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 42.85   (req: >= 5)

Gene RIFs: 21   (req: > 3)

Antibodies: 195   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 5

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0

Protein Sequence and Structure

Residue Counts

Protein Sequence

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Expression Data (0 Tissues)

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No expression data found

Related Tools

Target Illumination GWAS Analytics (TIGA)

TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.

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GENEVA

GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.

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GlyGen

GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.

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ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

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Approved Drugs (0)

No approved drugs found

Active Ligands (0)

No active ligands found

Protein-Protein Interactions (472)

Explore Interacting Targets

1 – 10 of 472

• See Interactions on String-DB

KCNA10

Tclin

Family:  IC

Novelty:  0.05708808

p_int:  0.99998514

p_ni:  0.000014857

p_wrong:  3e-9

Score:  0.566

Data Source:  BioPlex,STRINGDB

PLSCR1

Tbio

Family:  Enzyme

Novelty:  0.01483138

p_int:  0.999953375

p_ni:  0.000045553

p_wrong:  0.000001072

Score:  0.196

Data Source:  BioPlex,STRINGDB

LYPD3

Tbio

Novelty:  0.03248533

p_int:  0.99988346

p_ni:  0.00004487

p_wrong:  0.000071671

Data Source:  BioPlex

CAV3

Tbio

Novelty:  0.00190092

p_int:  0.999792003

p_ni:  0.000066016

p_wrong:  0.000141981

Score:  0.527

Data Source:  BioPlex,STRINGDB

REEP4

Tbio

Novelty:  0.37950931

p_int:  0.998238079

p_ni:  0.001761883

p_wrong:  3.8e-8

Score:  0.702

Data Source:  BioPlex,STRINGDB

NCAM1

Tbio

Novelty:  0.00020994

p_int:  0.986646519

p_ni:  0.013353481

Score:  0.256

Data Source:  BioPlex,STRINGDB

YWHAZ

Tchem

Novelty:  0.00210582

p_int:  0.937408392

p_ni:  0.062591608

Score:  0.17

Data Source:  BioPlex,STRINGDB

REEP2

Tdark

Novelty:  0.23897587

p_int:  0.885992478

p_ni:  2.37e-7

p_wrong:  0.114007286

Score:  0.842

Data Source:  BioPlex,STRINGDB

YWHAG

Tchem

Novelty:  0.00845572

p_int:  0.849677359

p_ni:  0.150322641

Score:  0.207

Data Source:  BioPlex,STRINGDB

OR1G1

Tdark

Family:  oGPCR

Novelty:  0.10297127

Score:  0.948

Data Source:  STRINGDB

Nearest Tclin Targets

Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.

Pathways (5)

Reactome (5)

G alpha (s) signalling events (R-HSA-418555)

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Data Source	Name	Explore in Pharos	Explore in Source
Reactome	G alpha (s) signalling events	577 targets	R-HSA-418555
Reactome	GPCR downstream signalling	1152 targets	R-HSA-388396
Reactome	Olfactory Signaling Pathway	431 targets	R-HSA-381753
Reactome	Signal Transduction	2704 targets	R-HSA-162582
Reactome	Signaling by GPCR	1212 targets	R-HSA-372790

Name	Explore in Pharos	Explore in Source
G alpha (s) signalling events	577 targets	R-HSA-418555
GPCR downstream signalling	1152 targets	R-HSA-388396
Olfactory Signaling Pathway	431 targets	R-HSA-381753
Signal Transduction	2704 targets	R-HSA-162582
Signaling by GPCR	1212 targets	R-HSA-372790

Viral Interactions (0)

No viral interactions found

Gene Ontology Terms (12)

Functions (2)

Components (7)

Processes (3)

Find Similar Targets

Items per page:

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1 – 2 of 2

GO Term	Evidence	Assigned by
microtubule binding	Inferred from Direct Assay (IDA)	UniProtKB
olfactory receptor binding	Inferred from Mutant Phenotype (IMP)	HGNC

Disease Associations ()

No disease associations found

GWAS Traits (1)

• Explore on Target Illumination GWAS Analytics (TIGA)

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5

1 – 1 of 1

GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
atrial fibrillation	EFO_0000275	2	1	0	1.1	9.4

• Explore on Target Illumination GWAS Analytics (TIGA)

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1 – 1 of 1

GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
atrial fibrillation	EFO_0000275	0	1.1	9.4

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Find similar targets by:

UniProt Keyword Find Similar Targets

No Header	No Header
Alternative splicing
Complete proteome
Disease mutation
Endoplasmic reticulum
Hereditary spastic paraplegia
Membrane
Mitochondrion
Neurodegeneration
Neuropathy
Phosphoprotein

GWAS Trait Find Similar Targets

No Header	No Header
atrial fibrillation

MGI Phenotype Find Similar Targets

No Header	No Header
adipose tissue phenotype
behavior/neurological phenotype
cellular phenotype
homeostasis/metabolism phenotype
nervous system phenotype
skeleton phenotype

IDG Resources

No IDG generated resources found

Orthologs (9)

1 – 5 of 9

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Chimp	receptor accessory protein 1	VGNC:350	470514
Mouse	receptor accessory protein 1	MGI:1098827	52250
Rat	receptor accessory protein 1	RGD:1305230	362384
Dog	receptor accessory protein 1	VGNC:45460	613003
Cow	receptor accessory protein 1	VGNC:33851	616916

Species	Name	OMA	EggNOG	Inparanoid
Chimp	receptor accessory protein 1
Mouse	receptor accessory protein 1
Rat	receptor accessory protein 1
Dog	receptor accessory protein 1
Cow	receptor accessory protein 1

Publication Statistics

PubMed Score 42.85

PubMed score by year

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PubTator Score 37.17

PubTator score by year

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Related Publications

Text Mined References (31)

GeneRif Annotations (21)

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10

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PMID	Year	Title