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    Reep6 receptor accessory protein 6 [ Mus musculus (house mouse) ]

    Gene ID: 70335, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Reep6provided by MGI
    Official Full Name
    receptor accessory protein 6provided by MGI
    Primary source
    MGI:MGI:1917585
    See related
    Ensembl:ENSMUSG00000035504 AllianceGenome:MGI:1917585
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Dp1l1; 0610011M24Rik
    Summary
    Involved in regulation of intracellular transport. Located in apical part of cell; endoplasmic reticulum membrane; and rod spherule. Is expressed in several structures, including extraembryonic component; gut; lung; retina; and urinary system. Used to study retinitis pigmentosa 77. Human ortholog(s) of this gene implicated in retinitis pigmentosa 77. Orthologous to human REEP6 (receptor accessory protein 6). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis adult (RPKM 263.9), liver adult (RPKM 179.2) and 6 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Reep6 in Genome Data Viewer
    Location:
    10 C1; 10 39.72 cM
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (80165831..80172275)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (80329997..80336441)

    Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene APC regulator of WNT signaling pathway 2 Neighboring gene RIKEN cDNA 2310011J03 gene Neighboring gene STARR-positive B cell enhancer ABC_E5155 Neighboring gene proprotein convertase subtilisin/kexin type 4 Neighboring gene STARR-positive B cell enhancer ABC_E366 Neighboring gene predicted gene, 51809 Neighboring gene ADAMTS-like 5 Neighboring gene polo like kinase 5

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Transcript isoforms of Reep6 have distinct functions in the retina. Liang Q, et al. Hum Mol Genet, 2021 Oct 13. PMID 34104971, Free PMC Article
    2. Knockout of mouse receptor accessory protein 6 leads to sperm function and morphology defects†. Devlin DJ, et al. Biol Reprod, 2020 May 26. PMID 32101290, Free PMC Article
    3. REEP6 deficiency leads to retinal degeneration through disruption of ER homeostasis and protein trafficking. Agrawal SA, et al. Hum Mol Genet, 2017 Jul 15. PMID 28475715, Free PMC Article
    4. REEP6 mediates trafficking of a subset of Clathrin-coated vesicles and is critical for rod photoreceptor function and survival. Veleri S, et al. Hum Mol Genet, 2017 Jun 15. PMID 28369466, Free PMC Article
    5. REEP6 knockout leads to defective β-adrenergic signaling in adipocytes and promotes obesity-related metabolic dysfunction. Son Y, et al. Metabolism, 2022 May. PMID 35150731

    See all (35) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. REEP6 knockout leads to defective beta-adrenergic signaling in adipocytes and promotes obesity-related metabolic dysfunction.
      Title: REEP6 knockout leads to defective β-adrenergic signaling in adipocytes and promotes obesity-related metabolic dysfunction.
    2. Knockout of mouse receptor accessory protein 6 leads to sperm function and morphology defectsdagger.
      Title: Knockout of mouse receptor accessory protein 6 leads to sperm function and morphology defects†.
    3. Data suggest that REEP6 plays an essential role in maintaining cGMP homeostasis though facilitating the stability and/or trafficking of guanylate cyclases and maintaining ER and mitochondrial homeostasis.
      Title: REEP6 deficiency leads to retinal degeneration through disruption of ER homeostasis and protein trafficking.
    4. whole exome sequencing identified homozygous REEP6-E75K mutation in two retinitis pigmentosa families of different ethnicities. Our studies suggest a critical function of REEP6 in trafficking of cargo via a subset of Clathrin-coated vesicles to selected membrane sites in retinal rod photoreceptors.
      Title: REEP6 mediates trafficking of a subset of Clathrin-coated vesicles and is critical for rod photoreceptor function and survival.
    5. study implicates REEP6 in retinal homeostasis and highlights a pathway previously uncharacterized in retinal dystrophy
      Title: Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa.
    6. REEP6.1 is a key functional target of NRL-centered transcriptional regulatory network in rod photoreceptors.
      Title: Regulation of a novel isoform of Receptor Expression Enhancing Protein REEP6 in rod photoreceptors by bZIP transcription factor NRL.
    7. TB2-like 1 is a membrane protein that belongs to the YOP1/TB2/DP1/HVA22 family, and it probably plays an important role in intracellular membrane trafficking in RGCs
      Title: Deleted in polyposis 1-like 1 gene (Dp1l1): a novel gene richly expressed in retinal ganglion cells.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    involved_in detection of light stimulus involved in visual perception ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in detection of light stimulus involved in visual perception ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of intracellular transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in apical part of cell IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in clathrin-coated vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in photoreceptor inner segment ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in photoreceptor inner segment ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    NOT located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in rod spherule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    receptor expression-enhancing protein 6
    Names
    TB2 protein-like 1
    deleted in polyposis 1-like 1
    polyposis locus protein 1-like 1

    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.

    mRNA and Protein(s)

    1. NM_001204931.1 → NP_001191860.1  receptor expression-enhancing protein 6 isoform 2

      See identical proteins and their annotated locations for NP_001191860.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC152062
      Consensus CDS
      CCDS56735.1
      UniProtKB/Swiss-Prot
      Q9JM62
      Related
      ENSMUSP00000100992.2, ENSMUST00000105355.8
      Conserved Domains (1) summary
      pfam03134
      Location:54 → 142
      TB2_DP1_HVA22; TB2/DP1, HVA22 family

    2. NM_139292.2 → NP_647453.1  receptor expression-enhancing protein 6 isoform 1

      See identical proteins and their annotated locations for NP_647453.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AB039933, AK002562
      Consensus CDS
      CCDS35979.1
      UniProtKB/Swiss-Prot
      Q8K0X2, Q9JM62
      Related
      ENSMUSP00000140840.2, ENSMUST00000186864.7
      Conserved Domains (1) summary
      pfam03134
      Location:54 → 142
      TB2_DP1_HVA22; TB2/DP1, HVA22 family

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000076.7 Reference GRCm39 C57BL/6J

      Range
      80165831..80172275
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006514077.2 → XP_006514140.1  receptor expression-enhancing protein 6 isoform X1

      Related
      ENSMUSP00000100995.2, ENSMUST00000105358.8
      Conserved Domains (1) summary
      pfam03134
      Location:66 → 143
      TB2_DP1_HVA22; TB2/DP1, HVA22 family

    RNA

    1. XR_004936271.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9JM62.1 GenPept UniProtKB/Swiss-Prot:Q9JM62

    Gene LinkOut

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

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