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Aliases for REEP1 Gene

Aliases for REEP1 Gene

  • Receptor Accessory Protein 1 2 3
  • C2orf23 3 4 6
  • HMN5B 3 6
  • SPG31 3 6
  • Receptor Expression Enhancing Protein 1 2
  • Receptor Expression-Enhancing Protein 1 3
  • Chromosome 2 Open Reading Frame 23 2

External Ids for REEP1 Gene

Previous Symbols for REEP1 Gene

  • C2orf23

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 spastic paraplegia 31. GO annotations related to this gene include microtubule binding and olfactory receptor binding. An important paralog of this gene is REEP2.

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

Genomic Location for REEP1 Gene

Start:
86,213,993 bp from pter
End:
86,338,083 bp from pter
Size:
124,091 bases
Orientation:
Minus strand

Genomic View for REEP1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for REEP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for REEP1 Gene

Regulatory Elements 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 for REEP1 Gene

Gene Families for REEP1 Gene

HGNC:
  • REEP :Receptor accessory proteins

Protein Domains for REEP1 Gene

UniProtKB/Swiss-Prot:

REEP1_HUMAN
Family:
  • Belongs to the DP1 family.:
    • Q9H902
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).

Gene Ontology (GO) - Molecular Function for REEP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20200447
GO:0008017 microtubule binding IDA 20200447
GO:0031849 olfactory receptor binding IMP 15550249
genes like me logo Genes that share ontologies with REEP1: view

Phenotypes for REEP1 Gene

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

Animal Models for REEP1 Gene

MGI Knock Outs for REEP1:

miRNA for REEP1 Gene

miRTarBase miRNAs that target REEP1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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:0005737 cytoplasm IDA 15550249
GO:0005739 mitochondrion --
GO:0005783 endoplasmic reticulum IDA 20200447
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IDA 20200447
genes like me logo Genes that share ontologies with REEP1: view

Pathways for REEP1 Gene

SuperPathways for REEP1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for REEP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008219 cell death --
GO:0032386 regulation of intracellular transport IEA --
GO:0051205 protein insertion into membrane IDA 15550249
GO:0071786 endoplasmic reticulum tubular network organization IMP 20200447
genes like me logo Genes that share ontologies with REEP1: view

No data available for Pathways by source for REEP1 Gene

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

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for REEP1 Gene

SOURCE GeneReport for Unigene cluster for REEP1 Gene Hs.368884

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

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 36
  • 100 (n)
  • 100 (a)
REEP1 37
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia REEP1 36
  • 94.86 (n)
  • 97.51 (a)
REEP1 37
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOC613003 36
  • 95.37 (n)
  • 98.4 (a)
REEP1 37
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Reep1 36
  • 91.71 (n)
  • 98.01 (a)
Reep1 16
Reep1 37
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia REEP1 37
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia REEP1 37
  • 85 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Reep1 36
  • 92.04 (n)
  • 99 (a)
chicken
(Gallus gallus)
Aves REEP1 36
  • 83.24 (n)
  • 92.9 (a)
REEP1 37
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia REEP1 37
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia reep1 36
  • 77.29 (n)
  • 85.16 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC799901 36
  • 73.87 (n)
  • 83.95 (a)
reep1 37
  • 66 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG42678 37
  • 15 (a)
ManyToMany
CG5539 37
  • 15 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea T19C3.4 37
  • 36 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YOP1 37
  • 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

Selected 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 MAF
rs718292 -- 86,246,617(+) GGTAG(C/T)CTGGA intron-variant
rs749579 -- 86,221,285(-) GCTGC(C/T)TCCTG intron-variant
rs749580 -- 86,221,254(-) CAGTG(G/T)TAACT intron-variant
rs749581 -- 86,221,108(-) TCTCA(A/G)GAAGA intron-variant
rs753918 -- 86,307,678(+) gagcc(A/G/T)tgatg intron-variant

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

Relevant External Links for REEP1 Gene

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

Disorders for REEP1 Gene

(2) OMIM Diseases for REEP1 Gene (609139)

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.

(2) University of Copenhagen DISEASES for REEP1 Gene

Relevant External Links for REEP1

Genetic Association Database (GAD)
REEP1
Human Genome Epidemiology (HuGE) Navigator
REEP1
genes like me logo Genes that share disorders with REEP1: view

Publications for REEP1 Gene

  1. 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 4 23
  2. RTP family members induce functional expression of mammalian odorant receptors. (PMID: 15550249) Saito H. … Matsunami H. (Cell 2004) 2 3 4
  3. 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 49
  4. New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP). (PMID: 19034539) Hewamadduma C. … Shaw P. (Neurogenetics 2009) 3 49
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4

Products for REEP1 Gene

Sources for REEP1 Gene

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