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Aliases for REEP1 Gene

Aliases for REEP1 Gene

  • Receptor Accessory Protein 1 2 3 5
  • C2orf23 3 4
  • Receptor Expression Enhancing Protein 1 2
  • Chromosome 2 Open Reading Frame 23 2
  • HMN5B 3
  • SPG31 3
  • Yip2a 3

External Ids for REEP1 Gene

Previous HGNC Symbols for REEP1 Gene

  • C2orf23

Previous GeneCards Identifiers for REEP1 Gene

  • GC02M086353
  • GC02M086294
  • GC02M086441

Summaries for REEP1 Gene

Entrez Gene Summary for REEP1 Gene

  • 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]

GeneCards Summary for REEP1 Gene

REEP1 (Receptor Accessory Protein 1) is a Protein Coding gene. Diseases associated with REEP1 include spastic paraplegia 31, autosomal dominant and neuronopathy, distal hereditary motor, type vb. GO annotations related to this gene include microtubule binding and olfactory receptor binding. An important paralog of this gene is REEP6.

UniProtKB/Swiss-Prot for REEP1 Gene

  • 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).

Gene Wiki entry for REEP1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for REEP1 Gene

Genomics for REEP1 Gene

Regulatory Elements for REEP1 Gene

Promoters for REEP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around REEP1 on UCSC Golden Path with GeneCards custom track

Genomic Location for REEP1 Gene

Chromosome:
2
Start:
86,213,993 bp from pter
End:
86,338,418 bp from pter
Size:
124,426 bases
Orientation:
Minus strand

Genomic View for REEP1 Gene

Genes around REEP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
REEP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for REEP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for REEP1 Gene

Proteins for REEP1 Gene

  • Protein details for REEP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H902-REEP1_HUMAN
    Recommended name:
    Receptor expression-enhancing protein 1
    Protein Accession:
    Q9H902
    Secondary Accessions:
    • B7Z4D7
    • B7Z4F2
    • B7Z5R9
    • D6W5M2
    • Q53TI0

    Protein attributes for REEP1 Gene

    Size:
    201 amino acids
    Molecular mass:
    22255 Da
    Quaternary structure:
    • Interacts with SPAST and ATL1; it preferentially interacts with SPAST isoform 1. Interacts (via C-terminus) with microtubules. Interacts with odorant receptor proteins (By similarity).

    Alternative splice isoforms for REEP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for REEP1 Gene

Proteomics data for REEP1 Gene at MOPED

Post-translational modifications for REEP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for REEP1 Gene

Domains & Families for REEP1 Gene

Gene Families for REEP1 Gene

Protein Domains for REEP1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H902

UniProtKB/Swiss-Prot:

REEP1_HUMAN :
  • Belongs to the DP1 family.
Family:
  • Belongs to the DP1 family.
genes like me logo Genes that share domains with REEP1: view

Function for REEP1 Gene

Molecular function for REEP1 Gene

UniProtKB/Swiss-Prot Function:
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).
genes like me logo Genes that share phenotypes with REEP1: view

Human Phenotype Ontology for REEP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for REEP1 Gene

MGI Knock Outs for REEP1:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for REEP1 Gene

Localization for REEP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for REEP1 Gene

Membrane. Mitochondrion membrane; Multi-pass membrane protein. Endoplasmic reticulum.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for REEP1 Gene COMPARTMENTS Subcellular localization image for REEP1 gene
Compartment Confidence
endoplasmic reticulum 5
mitochondrion 5
extracellular 2
plasma membrane 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for REEP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
GO:0031966 mitochondrial membrane IEA --
genes like me logo Genes that share ontologies with REEP1: view

Pathways & Interactions for REEP1 Gene

SuperPathways for REEP1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for REEP1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for REEP1 Gene

Drugs & Compounds for REEP1 Gene

No Compound Related Data Available

Transcripts for REEP1 Gene

Unigene Clusters for REEP1 Gene

Receptor accessory protein 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for REEP1 Gene

No ASD Table

Relevant External Links for REEP1 Gene

GeneLoc Exon Structure for
REEP1
ECgene alternative splicing isoforms for
REEP1

Expression for REEP1 Gene

mRNA expression in normal human tissues for REEP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for REEP1 Gene

This gene is overexpressed in Testis (19.3), Fetal Brain (17.1), Ovary (9.7), and Bone (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for REEP1 Gene



SOURCE GeneReport for Unigene cluster for REEP1 Gene Hs.368884

mRNA Expression by UniProt/SwissProt for REEP1 Gene

Q9H902-REEP1_HUMAN
Tissue specificity: Expressed in circumvallate papillae and testis.
genes like me logo Genes that share expression patterns with REEP1: view

Protein tissue co-expression partners for REEP1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for REEP1 Gene

Orthologs for REEP1 Gene

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

Orthologs for REEP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia REEP1 35
  • 100 (n)
  • 100 (a)
REEP1 36
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia REEP1 36
  • 93 (a)
OneToOne
REEP1 35
  • 94.86 (n)
  • 97.51 (a)
dog
(Canis familiaris)
Mammalia LOC613003 35
  • 95.37 (n)
  • 98.4 (a)
REEP1 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Reep1 16
Reep1 35
  • 91.71 (n)
  • 98.01 (a)
Reep1 36
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia REEP1 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia REEP1 36
  • 85 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Reep1 35
  • 92.04 (n)
  • 99 (a)
chicken
(Gallus gallus)
Aves REEP1 36
  • 79 (a)
OneToOne
REEP1 35
  • 83.24 (n)
  • 92.9 (a)
lizard
(Anolis carolinensis)
Reptilia REEP1 36
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia reep1 35
  • 77.29 (n)
  • 85.16 (a)
zebrafish
(Danio rerio)
Actinopterygii reep1 36
  • 66 (a)
OneToOne
LOC799901 35
  • 73.87 (n)
  • 83.95 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG42678 36
  • 15 (a)
ManyToMany
CG5539 36
  • 15 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea T19C3.4 36
  • 36 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YOP1 36
  • 18 (a)
OneToMany
Species with no ortholog for REEP1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 REEP1 Gene

ENSEMBL:
Gene Tree for REEP1 (if available)
TreeFam:
Gene Tree for REEP1 (if available)

Paralogs for REEP1 Gene

Paralogs for REEP1 Gene

(6) SIMAP similar genes for REEP1 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with REEP1: view

Variants for REEP1 Gene

Sequence variations from dbSNP and Humsavar for REEP1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
VAR_027351 Spastic paraplegia 31, autosomal dominant (SPG31)
VAR_067265 Spastic paraplegia 31, autosomal dominant (SPG31)
VAR_067266 Spastic paraplegia 31, autosomal dominant (SPG31)
VAR_067267 Spastic paraplegia 31, autosomal dominant (SPG31)
VAR_067268 -

Structural Variations from Database of Genomic Variants (DGV) for REEP1 Gene

Variant ID Type Subtype PubMed ID
esv2751903 CNV Gain 17911159
nsv458563 CNV Gain 19166990
nsv458574 CNV Gain 19166990
esv2720301 CNV Deletion 23290073
esv2657637 CNV Deletion 23128226

Variation tolerance for REEP1 Gene

Residual Variation Intolerance Score: 61.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.45; 9.86% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for REEP1 Gene

HapMap Linkage Disequilibrium report
REEP1
Human Gene Mutation Database (HGMD)
REEP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for REEP1 Gene

Disorders for REEP1 Gene

MalaCards: The human disease database

(14) MalaCards diseases for REEP1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spastic paraplegia 31, autosomal dominant
  • spg31
neuronopathy, distal hereditary motor, type vb
  • distal hereditary motor neuronopathy type vb
spastic paraplegia 31
  • spastic paraplegia 31, autosomal dominant
distal hereditary motor neuropathy type v
  • dhmn-v
neuropathy, hereditary sensory, type id
  • hereditary sensory neuropathy type id
- elite association - COSMIC cancer census association via MalaCards
Search REEP1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

REEP1_HUMAN
  • Spastic paraplegia 31, autosomal dominant (SPG31) [MIM:610250]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. {ECO:0000269 PubMed:16826527, ECO:0000269 PubMed:18644145, ECO:0000269 PubMed:20718791, ECO:0000269 PubMed:21618648, ECO:0000269 PubMed:24478229}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Neuronopathy, distal hereditary motor, 5B (HMN5B) [MIM:614751]: A disorder characterized by distal muscular atrophy mainly affecting the upper extremities, in contrast to other distal motor neuronopathies. These constitute a heterogeneous group of neuromuscular diseases caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. HMN5B is characterized by onset in the first or second decade of distal muscle weakness and atrophy, primarily affecting the intrinsic hand muscles, but also affecting the lower legs, resulting in abnormal gait and pes cavus. {ECO:0000269 PubMed:22703882}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for REEP1

Genetic Association Database (GAD)
REEP1
Human Genome Epidemiology (HuGE) Navigator
REEP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
REEP1
genes like me logo Genes that share disorders with REEP1: view

No data available for Genatlas for REEP1 Gene

Publications for REEP1 Gene

  1. Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31). (PMID: 18644145) Schlang K.J. … Stemmler S. (BMC Med. Genet. 2008) 3 4 48 67
  2. Receptor expression-enhancing protein 1 gene (SPG31) mutations are rare in Chinese Han patients with hereditary spastic paraplegia. (PMID: 19781397) Du J. … Tang B.S. (Chin. Med. J. 2009) 3 23
  3. Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31. (PMID: 16826527) Zuechner S. … Pericak-Vance M.A. (Am. J. Hum. Genet. 2006) 3 23
  4. Inherited ACTH insensitivity illuminates the mechanisms of ACTH action. (PMID: 16271481) Clark A.J. … Huebner A. (Trends Endocrinol. Metab. 2005) 2 3
  5. RTP family members induce functional expression of mammalian odorant receptors. (PMID: 15550249) Saito H. … Matsunami H. (Cell 2004) 2 3

Products for REEP1 Gene

Sources for REEP1 Gene

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