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    REEP1 receptor accessory protein 1 [ Homo sapiens (human) ]

    Gene ID: 65055, updated on 10-Dec-2024

    Summary

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    Official Symbol
    REEP1provided by HGNC
    Official Full Name
    receptor accessory protein 1provided by HGNC
    Primary source
    HGNC:HGNC:25786
    See related
    Ensembl:ENSG00000068615 MIM:609139; AllianceGenome:HGNC:25786
    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
    DSMA6; HMN5B; HMNR6; SPG31; Yip2a; HMND12; C2orf23
    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]
    Expression
    Biased expression in testis (RPKM 30.1), brain (RPKM 18.8) and 11 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See REEP1 in Genome Data Viewer
    Location:
    2p11.2
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (86213993..86338083, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (86216087..86340099, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (86441116..86565206, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene inner membrane mitochondrial protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16155 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16156 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16157 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16158 Neighboring gene microRNA 4779 Neighboring gene Sharpr-MPRA regulatory region 10968 Neighboring gene mitochondrial ribosomal protein L35 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:86457835-86458493 Neighboring gene Sharpr-MPRA regulatory region 10790 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11711 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:86487052-86487642 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:86551277-86551778 Neighboring gene U8 small nucleolar RNA Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:86667563-86668106 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16160 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11712 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11713 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16161 Neighboring gene lysine demethylase 3A Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:86708929-86710128

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Clinical and genetic study of a novel mutation in the REEP1 gene. Liu SG, et al. Synapse, 2009 Mar. PMID 19072839
    2. Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. Beetz C, et al. Am J Hum Genet, 2012 Jul 13. PMID 22703882, Free PMC Article
    3. A recurrent deletion syndrome at chromosome bands 2p11.2-2p12 flanked by segmental duplications at the breakpoints and including REEP1. Stevens SJ, et al. Eur J Hum Genet, 2015 Apr. PMID 24986827, Free PMC Article
    4. Hereditary spastic paraplegia-linked REEP1 modulates endoplasmic reticulum/mitochondria contacts. Lim Y, et al. Ann Neurol, 2015 Nov. PMID 26201691, Free PMC Article
    5. 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

    See all (47) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. deletional variation of the REEP1 gene probably underlies the disease in this pedigree
      Title: [Deletional variant of REEP1 gene in a pedigree affected with spastic paraplegia type 31].
    2. The REEP1 c.606 + 43G>T caused Spastic Paraplegia and primary progressive multiple sclerosis.
      Title: Genome sequencing uncovers phenocopies in primary progressive multiple sclerosis.
    3. REEP1 variants cause polyneuropathy in SPG31.
      Title: Peripheral neuropathy in hereditary spastic paraplegia caused by REEP1 variants.
    4. Pathology of spastic paraplegia type 31 may contain dosage effect of REEP1 transcripts.
      Title: Spastic paraplegia type 31: A novel REEP1 splice site donor variant and expansion of the phenotype variability.
    5. Study identified a heterozygous nonstop variant in REEP1. Mutations in this gene have classically been associated with the upper motor neuron disorder hereditary spastic paraplegia (HSP).
      Title: A nonstop variant in REEP1 causes peripheral neuropathy by unmasking a 3'UTR-encoded, aggregation-inducing motif.
    6. This study demonstrated that REEP1 gene mutation associated with hereditary spastic paraplegias in group of Polish patients
      Title: Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients.
    7. we show that REEP1 facilitates endoplasmic reticulum mitochondria interactions, a function diminished by disease-associated mutations.
      Title: Hereditary spastic paraplegia-linked REEP1 modulates endoplasmic reticulum/mitochondria contacts.
    8. Nonsense variants in REEP1 causing haploinsufficiency/loss of function are responsible for autosomal dominant hereditary spastic paraplegia (HSP)-type SPG31.
      Title: A recurrent deletion syndrome at chromosome bands 2p11.2-2p12 flanked by segmental duplications at the breakpoints and including REEP1.
    9. Functional mutation analysis reveal that distinct pathomechanisms are associated with REEP1 mutations and shed new light on its probable functions.
      Title: Functional mutation analysis provides evidence for a role of REEP1 in lipid droplet biology.
    10. Expression of the REEP1/REEP2 subfamily appears to be restricted to neuronal and neuronal-like exocytotic tissues, consistent with neuronally restricted symptoms of REEP1 genetic disorders.
      Title: REEP1 and REEP2 proteins are preferentially expressed in neuronal and neuronal-like exocytotic tissues.
    Submit: New GeneRIF Correction See all GeneRIFs (25)

    Phenotypes

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

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Hereditary spastic paraplegia 31
    MedGen: C1853247 OMIM: 610250 GeneReviews: Not available
    		Compare labs
    Neuronopathy, distal hereditary motor, type 5B
    MedGen: C3553656 OMIM: 614751 GeneReviews: Not available
    		Compare labs
    Spinal muscular atrophy, distal, autosomal recessive, 6
    MedGen: C5774201 OMIM: 620011 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ13110

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables microtubule binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables microtubule binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables olfactory receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables olfactory receptor binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in endoplasmic reticulum tubular network organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in endoplasmic reticulum tubular network organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein insertion into membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasmic microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in endoplasmic reticulum tubular network IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum tubular network ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    receptor expression-enhancing protein 1
    Names
    spastic paraplegia 31 protein

    NCBI Reference Sequences (RefSeq)

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    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), LRG_713

    mRNA and Protein(s)

    1. NM_001164730.2 → NP_001158202.1  receptor expression-enhancing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001158202.1

      Status: REVIEWED

      Source sequence(s)
      AC009309, AC009408
      Consensus CDS
      CCDS54374.1
      UniProtKB/TrEMBL
      B7Z4H9
      Related
      ENSP00000392197.2, ENST00000453231.6
      Conserved Domains (1) summary
      pfam03134
      Location:19 → 101
      TB2_DP1_HVA22; TB2/DP1, HVA22 family

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

      See identical proteins and their annotated locations for NP_001158203.1

      Status: REVIEWED

      Source sequence(s)
      AK023172, AK299334, AL080222, BI493883, DA495719
      Consensus CDS
      CCDS54372.1
      UniProtKB/TrEMBL
      B7Z4H9
      Related
      ENSP00000437567.1, ENST00000535845.6
      Conserved Domains (1) summary
      pfam03134
      Location:9 → 67
      TB2_DP1_HVA22; TB2/DP1, HVA22 family

    3. NM_001164732.2 → NP_001158204.1  receptor expression-enhancing protein 1 isoform 4

      See identical proteins and their annotated locations for NP_001158204.1

      Status: REVIEWED

      Source sequence(s)
      AK023172, AK297201, AL080222, BI493883
      Consensus CDS
      CCDS54373.1
      UniProtKB/TrEMBL
      B7Z241
      Related
      ENSP00000442681.1, ENST00000541910.6
      Conserved Domains (1) summary
      pfam03134
      Location:19 → 61
      TB2_DP1_HVA22; TB2/DP1, HVA22 family

    4. NM_001371279.1 → NP_001358208.1  receptor expression-enhancing protein 1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC009309, AC009408
      Consensus CDS
      CCDS92798.1
      UniProtKB/TrEMBL
      A0A1C7CYY3, A0A2R8YD64
      Related
      ENSP00000438346.3, ENST00000538924.7
      Conserved Domains (1) summary
      pfam03134
      Location:19 → 94
      TB2_DP1_HVA22; TB2/DP1, HVA22 family

    5. NM_001371280.1 → NP_001358209.1  receptor expression-enhancing protein 1 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC009309, AC009408
      Consensus CDS
      CCDS92795.1
      UniProtKB/TrEMBL
      A0A8I5KRE1
      Related
      ENSP00000509143.1, ENST00000689156.1
      Conserved Domains (1) summary
      pfam03134
      Location:19 → 94
      TB2_DP1_HVA22; TB2/DP1, HVA22 family

    6. NM_001410855.1 → NP_001397784.1  receptor expression-enhancing protein 1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC009309, AC009408
      Consensus CDS
      CCDS92796.1
      UniProtKB/TrEMBL
      A0A2R8Y6K6, A0A2R8YD64
      Related
      ENSP00000495610.2, ENST00000643817.2

    7. NM_001410856.1 → NP_001397785.1  receptor expression-enhancing protein 1 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC009309, AC009408
      Consensus CDS
      CCDS92797.1
      UniProtKB/TrEMBL
      A0A8I5QKJ2, B7Z4H9
      Related
      ENSP00000508496.1, ENST00000691703.1

    8. NM_022912.3 → NP_075063.1  receptor expression-enhancing protein 1 isoform 2

      See identical proteins and their annotated locations for NP_075063.1

      Status: REVIEWED

      Source sequence(s)
      AC009309, AC009408
      Consensus CDS
      CCDS1989.1
      UniProtKB/Swiss-Prot
      B7Z4D7, B7Z4F2, B7Z5R9, D6W5M2, Q53TI0, Q9H902
      UniProtKB/TrEMBL
      B7Z4H9
      Related
      ENSP00000165698.5, ENST00000165698.9
      Conserved Domains (1) summary
      pfam03134
      Location:19 → 94
      TB2_DP1_HVA22; TB2/DP1, HVA22 family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      86213993..86338083 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017004725.2 → XP_016860214.1  receptor expression-enhancing protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A2R8YD64

    2. XM_017004726.2 → XP_016860215.1  receptor expression-enhancing protein 1 isoform X5

    3. XM_017004727.2 → XP_016860216.1  receptor expression-enhancing protein 1 isoform X6

      UniProtKB/TrEMBL
      B7Z4H9

    4. XM_011533045.2 → XP_011531347.1  receptor expression-enhancing protein 1 isoform X3

      UniProtKB/TrEMBL
      A0A2R8YD64
      Related
      ENSP00000494305.1, ENST00000644644.1
      Conserved Domains (1) summary
      pfam03134
      Location:4 → 86
      TB2_DP1_HVA22; TB2/DP1, HVA22 family

    5. XM_005264504.2 → XP_005264561.1  receptor expression-enhancing protein 1 isoform X4

      UniProtKB/TrEMBL
      A0A2R8YD64
      Conserved Domains (1) summary
      pfam03134
      Location:1 → 56
      TB2_DP1_HVA22; TB2/DP1, HVA22 family

    6. XM_047445536.1 → XP_047301492.1  receptor expression-enhancing protein 1 isoform X7

      UniProtKB/TrEMBL
      B7Z4H9

    7. XM_011533044.2 → XP_011531346.1  receptor expression-enhancing protein 1 isoform X2

      UniProtKB/TrEMBL
      A0A2R8YD64
      Conserved Domains (1) summary
      pfam03134
      Location:2 → 88
      TB2_DP1_HVA22; TB2/DP1, HVA22 family

    8. XM_047445537.1 → XP_047301493.1  receptor expression-enhancing protein 1 isoform X4

      UniProtKB/TrEMBL
      A0A2R8YD64

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      86216087..86340099 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343428.1 → XP_054199403.1  receptor expression-enhancing protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A2R8YD64

    2. XM_054343432.1 → XP_054199407.1  receptor expression-enhancing protein 1 isoform X5

    3. XM_054343433.1 → XP_054199408.1  receptor expression-enhancing protein 1 isoform X6

      UniProtKB/TrEMBL
      B7Z4H9

    4. XM_054343430.1 → XP_054199405.1  receptor expression-enhancing protein 1 isoform X3

      UniProtKB/TrEMBL
      A0A2R8YD64

    5. XM_054343431.1 → XP_054199406.1  receptor expression-enhancing protein 1 isoform X4

      UniProtKB/TrEMBL
      A0A2R8YD64

    6. XM_054343434.1 → XP_054199409.1  receptor expression-enhancing protein 1 isoform X7

      UniProtKB/TrEMBL
      B7Z4H9

    7. XM_054343429.1 → XP_054199404.1  receptor expression-enhancing protein 1 isoform X2

      UniProtKB/TrEMBL
      A0A2R8YD64

    8. XM_054343435.1 → XP_054199410.1  receptor expression-enhancing protein 1 isoform X4

      UniProtKB/TrEMBL
      A0A2R8YD64
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H902.1 GenPept UniProtKB/Swiss-Prot:Q9H902

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