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    REEP1 receptor accessory protein 1 [ Homo sapiens ]

    Gene ID: 65055, updated on 11-May-2012
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    Summary

    Official Symbol
    REEP1provided by HGNC
    Official Full Name
    receptor accessory protein 1provided by HGNC
    Primary source
    HGNC:25786
    See related
    Ensembl:ENSG00000068615; HPRD:07810; MIM:609139; Vega:OTTHUMG00000130205
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SPG31; C2orf23; FLJ13110
    Summary
    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]
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    Genomic context

    Location :
    2p11.2
    Sequence :
    Chromosome: 2; NC_000002.11 (86441116..86565206, complement)
    See REEP1 in Epigenomics, MapViewer

    Chromosome 2 - NC_000002.11Genomic Context describing neighboring genes Neighboring gene inner membrane protein, mitochondrial Neighboring gene microRNA 4779 Neighboring gene mitochondrial ribosomal protein L35 Neighboring gene lysine (K)-specific demethylase 3A Neighboring gene RNF103-CHMP3 readthrough Neighboring gene charged multivesicular body protein 3

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction. Goizet C, et al. Hum Mutat, 2011 Oct. PMID 21618648.
    2. Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia. McCorquodale DS 3rd, et al. Clin Genet, 2011 Jun. PMID 20718791.
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614.
    4. Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network. Park SH, et al. J Clin Invest, 2010 Apr. PMID 20200447.
    5. Receptor expression-enhancing protein 1 gene (SPG31) mutations are rare in Chinese Han patients with hereditary spastic paraplegia. Du J, et al. Chin Med J (Engl), 2009 Sep 5. PMID 19781397.

    See all (21) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Identification of 12 different heterozygous REEP1 mutations, including two exon deletions, associated with either a pure or a complex phenotype.
      Title: REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction.
    2. previously unreported autosomal dominant mutations in the REEP1 gene in hereditary spastic paraplegia
      Title: Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    4. Hereditary spastic paraplegias(HSP) proteins atlastin-1, spastin, and REEP1 interact within the tubularER membrane in corticospinal neurons to coordinate ER shaping and microtubule dynamics.
      Title: Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network.
    5. Receptor expression-enhancing protein 1 gene (SPG31) mutations are rare in Chinese Han patients with hereditary spastic paraplegia.
      Title: Receptor expression-enhancing protein 1 gene (SPG31) mutations are rare in Chinese Han patients with hereditary spastic paraplegia.
    6. Results identify the frequency of REEP1 mutations in both autosomal dominant HSP (ADHSP) and sporadic spastic paraparesis (SSP) and analyse the genotype/phenotype correlation of mutations so far described in REEP1.
      Title: New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP).
    7. A novel splice-site mutation (REEP1 c417+1g>a) was identified in chiease family of ADHSP.
      Title: Clinical and genetic study of a novel mutation in the REEP1 gene.
    8. Our results confirm the previously observed mutation range of 3% to 6.5%, respectively, and they widen the spectrum of REEP1 mutations
      Title: Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31).
    9. Observational study of gene-disease association. (HuGE Navigator)
      Title: Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia.
    10. Mutations in the receptor expression enhancing protein 1 (REEP1) have recently been reported to cause autosomal dominant hereditary spastic paraplegia type SPG31. We identified 13 novel and 2 known REEP1 mutations in 16 familial and sporadic patients.
      Title: REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.
    Submit: New GeneRIF Correction See all (12)
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    Phenotypes

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Spastic paraplegia 31, autosomal dominant

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    General gene information

    Markers

    Genotypes

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    olfactory receptor binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    cell death IEA
    Inferred from Electronic Annotation
    more info
    		  
    protein insertion into membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    integral to membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    mitochondrial membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    mitochondrion IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    receptor expression-enhancing protein 1
    Names
    receptor expression-enhancing protein 1
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_013037.1 RefSeqGene

      Range
      5001..129091
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001164730.1 → NP_001158202.1  receptor expression-enhancing protein 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AK023172, AK297287, AL080222, BI493883
      Consensus CDS
      CCDS54374.1
      UniProtKB/Swiss-Prot
      Q9H902
      Related
      ENSP00000438346, ENST00000538924
      Conserved Domains (1) summary
      pfam03134
      Location:19 – 103
      Blast Score: 335
      TB2_DP1_HVA22; TB2/DP1, HVA22 family

    2. NM_001164731.1 → NP_001158203.1  receptor expression-enhancing protein 1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and 5' coding region, compared to variant 1. The encoded isoform (3) has a distinct and shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AK023172, AK299334, AL080222, BI493883, DA495719
      Consensus CDS
      CCDS54372.1
      UniProtKB/Swiss-Prot
      Q9H902
      Related
      ENSP00000437567, ENST00000535845
      Conserved Domains (1) summary
      pfam03134
      Location:9 – 69
      Blast Score: 246
      TB2_DP1_HVA22; TB2/DP1, HVA22 family

    3. NM_001164732.1 → NP_001158204.1  receptor expression-enhancing protein 1 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and 5' coding region, and lacks two alternate exons in the central coding region that causes a frameshift, compared to variant 1. The encoded isoform (4) has distinct N- and C-termini and is shorter than isoform 1.
      Source sequence(s)
      AK023172, AK297201, AL080222, BI493883
      Consensus CDS
      CCDS54373.1
      UniProtKB/Swiss-Prot
      Q9H902
      Related
      ENSP00000442681, ENST00000541910
      Conserved Domains (1) summary
      pfam03134
      Location:4 – 61
      Blast Score: 215
      TB2_DP1_HVA22; TB2/DP1, HVA22 family

    4. NM_022912.2 → NP_075063.1  receptor expression-enhancing protein 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region, compared to variant 1. The encoded isoform (2) has a distinct and shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AB073662, AK023172, BC064846, DB078037
      Consensus CDS
      CCDS1989.1
      UniProtKB/Swiss-Prot
      Q9H902
      Related
      ENSP00000165698, OTTHUMP00000160708, ENST00000165698, OTTHUMT00000252523
      Conserved Domains (1) summary
      pfam03134
      Location:4 – 96
      Blast Score: 337
      TB2_DP1_HVA22; TB2/DP1, HVA22 family

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000002.11 Reference GRCh37.p5 Primary Assembly

      Range
      86441116..86565206, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000134.1 Alternate HuRef

      Range
      86338580..86462643, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC009309.4 (200..6575) None
    genomic AC009408.4 AAX93132.1
    genomic CH471053.2 EAW99457.1
      EAW99458.1
    mRNA AB073662.1 None
    mRNA AK022775.1 None
    mRNA AK023172.1 BAB14444.1
    mRNA AK294300.1 BAH11727.1
    mRNA AK297201.1 BAH12523.1
    mRNA AK297287.1 BAH12538.1
    mRNA AK297359.1 BAH12561.1
    mRNA AK297373.1 BAH12565.1
    mRNA AK299334.1 BAH13005.1
    mRNA AL080222.1 None
    mRNA AY562239.1 AAT70684.1
    mRNA BC064846.1 AAH64846.1
    mRNA BC139746.1 AAI39747.1
    mRNA BI493883.1 None
    mRNA CR457301.1 CAG33582.1
    mRNA DA495719.1 None
    mRNA DB078037.1 None
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H902.1 GenPept UniProtKB/Swiss-Prot:Q9H902
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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