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

    Gene ID: 65055, updated on 7-Apr-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    2p11.2
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (86213993..86338083, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (86216087..86340099, complement)
    105.20220307 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001164730.2NP_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:19101
      TB2_DP1_HVA22; TB2/DP1, HVA22 family
    2. NM_001164731.2NP_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:967
      TB2_DP1_HVA22; TB2/DP1, HVA22 family
    3. NM_001164732.2NP_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:1961
      TB2_DP1_HVA22; TB2/DP1, HVA22 family
    4. NM_001371279.1NP_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:1994
      TB2_DP1_HVA22; TB2/DP1, HVA22 family
    5. NM_001371280.1NP_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:1994
      TB2_DP1_HVA22; TB2/DP1, HVA22 family
    6. NM_001410855.1NP_001397784.1  receptor expression-enhancing protein 1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC009309, AC009408
      Consensus CDS
      CCDS92796.1
      UniProtKB/TrEMBL
      A0A2R8Y6K6
      Related
      ENSP00000495610.2, ENST00000643817.2
    7. NM_001410856.1NP_001397785.1  receptor expression-enhancing protein 1 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC009309, AC009408
      Consensus CDS
      CCDS92797.1
      UniProtKB/TrEMBL
      A0A8I5QKJ2
      Related
      ENSP00000508496.1, ENST00000691703.1
    8. NM_022912.3NP_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:1994
      TB2_DP1_HVA22; TB2/DP1, HVA22 family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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_017004725.2XP_016860214.1  receptor expression-enhancing protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A2R8YD64
    2. XM_017004726.2XP_016860215.1  receptor expression-enhancing protein 1 isoform X5

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

      UniProtKB/TrEMBL
      B7Z4H9
    4. XM_011533045.2XP_011531347.1  receptor expression-enhancing protein 1 isoform X3

      UniProtKB/TrEMBL
      A0A2R8YD64
      Related
      ENSP00000494305.1, ENST00000644644.1
      Conserved Domains (1) summary
      pfam03134
      Location:486
      TB2_DP1_HVA22; TB2/DP1, HVA22 family
    5. XM_005264504.2XP_005264561.1  receptor expression-enhancing protein 1 isoform X4

      UniProtKB/TrEMBL
      A0A2R8YD64
      Conserved Domains (1) summary
      pfam03134
      Location:156
      TB2_DP1_HVA22; TB2/DP1, HVA22 family
    6. XM_047445536.1XP_047301492.1  receptor expression-enhancing protein 1 isoform X7

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

      UniProtKB/TrEMBL
      A0A2R8YD64
      Conserved Domains (1) summary
      pfam03134
      Location:288
      TB2_DP1_HVA22; TB2/DP1, HVA22 family
    8. XM_047445537.1XP_047301493.1  receptor expression-enhancing protein 1 isoform X4

    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_054343428.1XP_054199403.1  receptor expression-enhancing protein 1 isoform X1

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

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

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

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

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

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

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