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    REEP6 receptor accessory protein 6 [ Homo sapiens (human) ]

    Gene ID: 92840, updated on 17-Jun-2024

    Summary

    Official Symbol
    REEP6provided by HGNC
    Official Full Name
    receptor accessory protein 6provided by HGNC
    Primary source
    HGNC:HGNC:30078
    See related
    Ensembl:ENSG00000115255 MIM:609346; AllianceGenome:HGNC:30078
    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
    TB1; RP77; DP1L1; TB2L1; Yip2f; REEP6.1; REEP6.2; C19orf32
    Summary
    The protein encoded by this gene may be involved in the transport of receptors from the endoplasmic reticulum (ER) to the cell surface. The encoded protein may also play a role in regulating ER membrane structure. This gene is required for the proper development of retinal rods and photoreceptors, with defects in this gene being associated with retinitis pigmentosa 77. [provided by RefSeq, May 2017]
    Expression
    Biased expression in testis (RPKM 114.3), duodenum (RPKM 92.1) and 6 other tissues See more
    Orthologs
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    Genomic context

    See REEP6 in Genome Data Viewer
    Location:
    19p13.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (1491181..1497927)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (1461211..1467957)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (1491180..1497926)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene APC regulator of WNT signaling pathway 2 Neighboring gene chromosome 19 open reading frame 25 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1478399-1478899 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9721 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13614 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1482223-1482834 Neighboring gene proprotein convertase subtilisin/kexin type 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9722 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9723 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9724 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1497018-1497572 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1507743-1508592 Neighboring gene uncharacterized LOC124904609 Neighboring gene ADAMTS like 5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9726 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9727 Neighboring gene uncharacterized LOC107985337

    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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

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

    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_055254.1 RefSeqGene

      Range
      5177..11923
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001329556.3NP_001316485.1  receptor expression-enhancing protein 6 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BC008201, BQ640333, BU728980
      Consensus CDS
      CCDS92481.1
      UniProtKB/Swiss-Prot
      A0A1L5BXV3, B2RE01, D6W5Z0, Q96HR9, Q96LM0
      Related
      ENSP00000378861.5, ENST00000395479.10
      Conserved Domains (1) summary
      pfam03134
      Location:66143
      TB2_DP1_HVA22; TB2/DP1, HVA22 family
    2. NM_138393.4NP_612402.1  receptor expression-enhancing protein 6 isoform 2

      See identical proteins and their annotated locations for NP_612402.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      BC008201, BU728980
      Consensus CDS
      CCDS12070.1
      UniProtKB/TrEMBL
      A0A1L5BXV2
      Related
      ENSP00000233596.2, ENST00000233596.8
      Conserved Domains (1) summary
      pfam03134
      Location:66143
      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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      1491181..1497927
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      1461211..1467957
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)