REEP1

Also known as C2orf23, HMN5B, SPG31, Yip2a, receptor accessory protein 1

Receptor expression-enhancing protein 1 is a protein that in humans is encoded by the REEP1 gene.

In the Vinony graph

Within Vinony's link graph, REEP1 is referenced by 8 other articles, and connects out to PubMed, human chromosome 2 and Ensembl genome database project.

It is catalogued under the topic Genes on human chromosome 2.

Its subject is documented across 6 Wikipedia language editions.

Gene data

REEP1

Name: receptor accessory protein 1
Type: protein-coding
Position: 86,210,522–86,338,083 (−)
Aliases: C2orf23, DSMA6, HMN5B, HMND12, HMNR6, SPG31, Yip2a
Ensembl: ENSG00000068615
RefSeq RNA: NM_001164730.2, NM_001164731.2, NM_001164732.2, NM_001371279.1, NM_001371280.1
RefSeq protein: NP_001158202.1, NP_001158203.1, NP_001158204.1, NP_001358208.1, NP_001358209.1

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].

Gene Ontology

Biological process

protein insertion into membrane endoplasmic reticulum tubular network organization endoplasmic reticulum tubular network organization

Molecular function

protein binding microtubule binding microtubule binding olfactory receptor binding olfactory receptor binding

Cellular component

cytoplasm endoplasmic reticulum endoplasmic reticulum endoplasmic reticulum membrane cytoplasmic microtubule membrane membrane mitochondrial membrane

Pathways

Olfactory Signaling Pathway Sensory Perception Expression and translocation of olfactory receptors

via MyGene.info

Gene · Ensembl

receptor accessory protein 1

Symbol: REEP1
Biotype: Protein coding
Organism: Homo sapiens
Location: 2:86,210,522-86,338,083
Strand: Reverse (−)
Assembly: GRCh38

View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Instance of: gene

Show 8 more facts

HomoloGene ID: 41504
found in taxon: Homo sapiens
exact match: identifiers.org/ncbigene/65055
cytogenetic location: 2p11.2
genomic end: 86565206
genomic start: 86441116
chromosome: human chromosome 2
expressed in: germinal epithelium

Sources (5)

via Wikidata · CC0

~1 min read

Encyclopedic overview

3 sections

Contents

Clinical significance
References
Further reading

Receptor expression-enhancing protein 1 is a protein that in humans is encoded by the REEP1 gene.

== Clinical significance == Mutations in REEP1 are known to cause the following conditions: Spastic paraplegia 31, autosomal dominant (SPG31); Neuronopathy, distal hereditary motor, 5B (HMN5B); Distal spinal muscular atrophy, autosomal recessive, 6 (DSMA6).

Excerpted from Wikipedia’s “REEP1” article, available under the CC BY-SA 4.0 licence.