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REEP1 Gene

protein-coding   GIFtS: 53
GCID: GC02M086441

Receptor Accessory Protein 1

(Previous name: chromosome 2 open reading frame 23)
(Previous symbol: C2orf23)
  See REEP1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Receptor Accessory Protein 11 2     Chromosome 2 Open Reading Frame 231
C2orf231 2 3     Receptor Expression Enhancing Protein 11
HMN5B2 5     Receptor Expression-Enhancing Protein 12
SPG312 5     C2ORF235

External Ids:    HGNC: 257861   Entrez Gene: 650552   Ensembl: ENSG000000686157   OMIM: 6091395   UniProtKB: Q9H9023   

Export aliases for REEP1 gene to outside databases

Previous GC identifers: GC02M086353 GC02M086294


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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, 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 REEP4.

UniProtKB/Swiss-Prot: REEP1_HUMAN, Q9H902
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

Gene Wiki entry for REEP1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NT_022184.16  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the REEP1 gene promoter:
         p53   AML1a   Pax-2   Pax-2a   RORalpha1   SRY   NF-AT4   POU2F1   POU2F1a   NF-AT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidREEP1 promoter sequence
   Search Chromatin IP Primers for REEP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat REEP1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p11.2   Ensembl cytogenetic band:  2p11.2   HGNC cytogenetic band: 2p11.2

REEP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
REEP1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M086441:  view genomic region     (about GC identifiers)

Start:
86,441,116 bp from pter      End:
86,565,206 bp from pter
Size:
124,091 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: REEP1_HUMAN, Q9H902 (See protein sequence)
Recommended Name: Receptor expression-enhancing protein 1  
Size: 201 amino acids; 22255 Da
Subunit: 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)
Secondary accessions: B7Z4D7 B7Z4F2 B7Z5R9 D6W5M2 Q53TI0
Alternative splicing: 4 isoforms:  Q9H902-1   Q9H902-2   Q9H902-3   Q9H902-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for REEP1: NX_Q9H902

Explore proteomics data for REEP1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See REEP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001158202.1  NP_001158203.1  NP_001158204.1  NP_075063.1  

    ENSEMBL proteins: 
     ENSP00000165698   ENSP00000401140   ENSP00000392197   ENSP00000400607   ENSP00000475269  
     ENSP00000442681   ENSP00000438346   ENSP00000437567   ENSP00000443831  

    REEP1 Human Recombinant Protein Products:

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    Novus Biologicals REEP1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for REEP1

     
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    LSBio Antibodies in human, mouse, rat for REEP1

    REEP1 Assay Products:

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    Cloud-Clone Corp. ELISAs for REEP1
    Cloud-Clone Corp. CLIAs for REEP1
    Search eBioscience for ELISAs for REEP1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    REEP: Receptor accessory proteins

    1 InterPro protein domain:
     IPR004345 TB2_DP1_HVA22

    Graphical View of Domain Structure for InterPro Entry Q9H902

    ProtoNet protein and cluster: Q9H902

    1 Blocks protein domain: IPB004345 TB2/DP1 and HVA22 related proteins

    UniProtKB/Swiss-Prot: REEP1_HUMAN, Q9H902
    Similarity: Belongs to the DP1 family


    Find genes that share domains with REEP1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: REEP1_HUMAN, Q9H902
    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

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0008017microtubule binding IDA--
    GO:0031849olfactory receptor binding IMP15550249
         
    Find genes that share ontologies with REEP1           About GenesLikeMe


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Reep1):
     behavior/neurological  nervous system 

    Find genes that share phenotypes with REEP1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Reep1tm1.1Cahb for REEP1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for REEP1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for REEP1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for REEP1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for REEP1

    miRNA
    Products:
        
    miRTarBase miRNAs that target REEP1:
    hsa-mir-192-5p (MIRT026266), hsa-mir-215-5p (MIRT024594)

    Block miRNA regulation of human, mouse, rat REEP1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate REEP1 (see all 72):
    hsa-miR-323-3p hsa-miR-607 hsa-miR-4272 hsa-miR-30d hsa-miR-30a hsa-miR-208b hsa-miR-200b hsa-miR-3174
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    Predesigned siRNA for gene silencing in human, mouse, rat REEP1

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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): REEP1 (NM_022912)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for REEP1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat REEP1

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for REEP1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    REEP1_HUMAN, Q9H902: Membrane. Mitochondrion membrane; Multi-pass membrane protein. Endoplasmic reticulum
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    mitochondrion5
    extracellular2
    plasma membrane2
    peroxisome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA15550249
    GO:0005783endoplasmic reticulum IDA--
    GO:0016020membrane IDA--
    GO:0016021integral component of membrane IEA--
    GO:0031966mitochondrial membrane IEA--

    Find genes that share ontologies with REEP1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for REEP1
    Interactions:

        Search GeneGlobe Interaction Network for REEP1

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for REEP1 (Q9H9023 ENSP000001656984) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHAHQ049173, ENSP000002489754I2D: score=1 STRING: ENSP00000248975
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    YIF1AENSP000003660984STRING: ENSP00000366098
    YIF1BENSP000003434354STRING: ENSP00000343435
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008219cell death IEA--
    GO:0051205protein insertion into membrane IDA15550249
    GO:0071786endoplasmic reticulum tubular network organization IMP--

    Find genes that share ontologies with REEP1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for REEP1



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for REEP1 gene (4 alternative transcripts): 
    NM_001164730.1  NM_001164731.1  NM_001164732.1  NM_022912.2  

    Unigene Cluster for REEP1:

    Receptor accessory protein 1
    Hs.368884  [show with all ESTs]
    Unigene Representative Sequence: NM_022912
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000165698(uc002srh.4 uc010yth.2 uc010yti.2 uc010ytg.2)
    ENST00000437769 ENST00000453231 ENST00000490915 ENST00000428491 ENST00000473407
    ENST00000489855 ENST00000475475 ENST00000541910 ENST00000538924(uc021vke.1)
    ENST00000535845 ENST00000540790
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat REEP1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate REEP1 (see all 72):
    hsa-miR-323-3p hsa-miR-607 hsa-miR-4272 hsa-miR-30d hsa-miR-30a hsa-miR-208b hsa-miR-200b hsa-miR-3174
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat REEP1
    Clone
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    OriGene clones in human, mouse for REEP1 (see all 24)
    OriGene ORF clones in mouse, rat for REEP1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): REEP1 (NM_022912)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for REEP1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat REEP1
    Primer
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    OriGene qPCR primer pairs and template standards for REEP1
    OriGene qSTAR qPCR primer pairs in human, mouse for REEP1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat REEP1
      QuantiTect SYBR Green Assays in human, mouse, rat REEP1
      QuantiFast Probe-based Assays in human, mouse, rat REEP1

    Additional mRNA sequence: 

    AB073662.1 AK022775.1 AK023172.1 AK294300.1 AK297201.1 AK297287.1 AK297359.1 AK297373.1 
    AK299334.1 AL080222.1 AY562239.1 BC064846.1 BC139746.1 CR457301.1 

    9 DOTS entries:

    DT.453240  DT.100761304  DT.121003896  DT.40118504  DT.40230806  DT.75117358  DT.95269058  DT.99984692 
    DT.121003923 

    Selected AceView cDNA sequences (see all 178):

    AI800638 AI339013 AA432253 AI655411 AA889032 Z40452 BM930064 BE220275 
    BE674450 AA258256 R59775 AA255438 AW183885 AA340628 T33564 AA889033 
    AA824318 M85497 AI692726 BM668220 AU121213 BP370701 AW206676 AI804428 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    REEP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCATAACTTT
    REEP1 Expression
    About this image


    REEP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             XY Germ Cells Testis Cord
             Seminiferous Tubules
     
     Placenta (Extraembryonic Tissues)
             Syncytiotrophoblast-like cells
     
     Gonad
             XY Germ Cells Testis Cord
     
     Inner Cell Mass (Early Embryonic Tissues)
             Inner Cell Mass Cells Inner Cell Mass
     
     Eye (Sensory Organs)
             Retina
    REEP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    REEP1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.368884
        Custom PCR Arrays for REEP1
    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat REEP1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for REEP1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for REEP1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Reep11 , 5 receptor accessory protein 11, 5 91.71(n)1
    98.01(a)1
      6 (32.20 cM)5
    522501  NM_178608.41  NP_848723.11 
     717075615 
    chicken
    (Gallus gallus)
    Aves REEP11 receptor accessory protein 1 83.24(n)
    92.9(a)
      771776  XM_001235010.3  XP_001235011.3 
    lizard
    (Anolis carolinensis)
    Reptilia REEP16
    receptor accessory protein 1
    82(a)
    1 ↔ 1
    6(60571431-60649607)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia reep11 receptor accessory protein 1 77.29(n)
    85.16(a)
      100490027  XM_004911280.1  XP_004911337.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC7999011 receptor expression-enhancing protein 1-like 73.87(n)
    83.95(a)
      799901  XM_001340171.3  XP_001340207.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG426786
    CG55396
    --
    15(a)
    15(a)
    many ↔ many
    many ↔ many
    2R(18812613-18819567)
    2R(19692334-19693411)
    worm
    (Caenorhabditis elegans)
    Secernentea T19C3.46
    Protein T19C3.4 (T19C3.4) mRNA, complete cds
    36(a)
    1 → many
    III(618248-620212) WBGene00020562
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes YOP16
    Membrane protein that interacts with Yip1p to medi...
    18(a)
    1 → many
    XVI(623527-624202) YPR028W


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for REEP1 gene
    REEP42  REEP32  REEP52  REEP62  REEP22  
    6 SIMAP similar genes for REEP1 using alignment to 6 protein entries:     REEP1_HUMAN (see all proteins):
    C1QL2    REEP2    REEP3    REEP4    REEP5    REEP6

    Find genes that share paralogs with REEP1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for REEP1 (see all 2586)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0672654
    Spastic paraplegia 31, autosomal dominant (SPG31)4--see VAR_0672652 P L mis40--------
    VAR_0672674
    Spastic paraplegia 31, autosomal dominant (SPG31)4--see VAR_0672672 W R mis40--------
    VAR_0273514
    Spastic paraplegia 31, autosomal dominant (SPG31)4--see VAR_0273512 A E mis40--------
    VAR_0672684
    Spastic paraplegia 31, autosomal dominant (SPG31)4--see VAR_0672682 D N mis40--------
    VAR_0672664
    Spastic paraplegia 31, autosomal dominant (SPG31)4--see VAR_0672662 S F mis40--------
    rs124686661,2
    C,F,H--86304660(+) TTGATG/ATTTCA 4 -- ds50011Minor allele frequency- A:0.25NA 8
    rs1174989411,2
    C,F--86304699(+) ACCCAA/GTGAAG 4 -- ds50011Minor allele frequency- G:0.02EA 120
    rs1880190191,2
    --86304706(+) GAAGTC/TTGAGT 4 -- ds50010--------
    rs1481178801,2
    --86304739(+) TAAGGC/GCTGCA 4 -- ds50010--------
    rs119441,2
    C,F,O,A,H--86304758(+) AAGGGT/CGGCCC 4 -- ds500112Minor allele frequency- C:0.44MN NS EA NA EU 1567

    HapMap Linkage Disequilibrium report for REEP1 (86441116 - 86565206 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for REEP1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2657637CNV Deletion23128226
    esv2720301CNV Deletion23290073
    esv2751903CNV Gain17911159
    nsv458574CNV Gain19166990
    nsv458563CNV Gain19166990

    Human Gene Mutation Database (HGMD): REEP1
    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609139   
    OMIM disorders: 610250  614751  
    UniProtKB/Swiss-Prot: REEP1_HUMAN, Q9H902
  • 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. 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 6 diseases for REEP1:    
    About MalaCards
    spastic paraplegia 31    neuronopathy, distal hereditary motor, type vb    distal hereditary motor neuropathy type v    progressive bulbar palsy
    neuropathy, distal hereditary motor, type va    distal hereditary motor neuropathy

    2 diseases from the University of Copenhagen DISEASES database for REEP1:
    Paraplegia     Progressive bulbar palsy

    Find genes that share disorders with REEP1           About GenesLikeMe

    Genetic Association Database (GAD): REEP1
    Human Genome Epidemiology (HuGE) Navigator: REEP1 (5 documents)

    Export disorders for REEP1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for REEP1 gene, integrated from 10 sources (see all 33):
    (articles sorted by number of sources associating them with REEP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. RTP family members induce functional expression of mammalian odorant receptors. (PubMed id 15550249)1, 2, 3 Saito H.... Matsunami H. (Cell 2004)
    2. Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31. (PubMed id 16826527)1, 2, 9 Zuechner S.... Pericak-Vance M.A. (Am. J. Hum. Genet. 2006)
    3. Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. (PubMed id 22703882)1, 2 Beetz C.... Auer-Grumbach M. (Am. J. Hum. Genet. 2012)
    4. REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction. (PubMed id 21618648)1, 2 Goizet C.... Stevanin G. (Hum. Mutat. 2011)
    5. Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia. (PubMed id 20718791)1, 2 McCorquodale D.S. III...Zuchner S. (Clin. Genet. 2011)
    6. Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network. (PubMed id 20200447)1, 2 Park S.H.... Blackstone C. (J. Clin. Invest. 2010)
    7. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    8. New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP). (PubMed id 19034539)1, 4 Hewamadduma C....Shaw P. (Neurogenetics 2009)
    9. Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31). (PubMed id 18644145)1, 4 Schlang K.J....Stemmler S. (BMC Med. Genet. 2008)
    10. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W.... Wilson R.K. (Nature 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 65055 HGNC: 25786 AceView: C2orf23 Ensembl:ENSG00000068615 euGenes: HUgn65055
    ECgene: REEP1 H-InvDB: REEP1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for REEP1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=REEP1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for REEP1 gene:
    Search GeneIP for patents involving REEP1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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