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

Gene ID: 92840, updated on 3-May-2025
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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See REEP6 in Genome Data Viewer
Location:
19p13.3
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (1491181..1497927)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (1461211..1467957)
RS_2024_09 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

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
Products Interactant Other Gene Complex Source Pubs Description

Markers

Clone Names

  • FLJ25383

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in detection of light stimulus involved in visual perception IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in endoplasmic reticulum organization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of intracellular transport ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in clathrin-coated vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
located_in cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
located_in nucleus HDA PubMed 
located_in photoreceptor inner segment IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
receptor expression-enhancing protein 6
Names
deleted in polyposis 1-like 1
polyposis locus protein 1-like 1

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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_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_2024_08

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)