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

Gene ID: 92840, updated on 7-Jun-2020

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
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
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

Genomic context

See REEP6 in Genome Data Viewer
Location:
19p13.3
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (1491181..1497927)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (1491165..1497924)

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 proprotein convertase subtilisin/kexin type 4 Neighboring gene ADAMTS like 5 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 gene information

Markers

Homology

Clone Names

  • FLJ25383

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
detection of light stimulus involved in visual perception IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of intracellular transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
apical part of cell IEA
Inferred from Electronic Annotation
more info
 
clathrin-coated vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
nucleus HDA PubMed 
photoreceptor inner segment IDA
Inferred from Direct Assay
more info
PubMed 
rod spherule IEA
Inferred from Electronic Annotation
more info
 

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)

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
    UniProtKB/Swiss-Prot
    Q96HR9
    Related
    ENSP00000378861.5, ENST00000395479.9
    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/Swiss-Prot
    Q96HR9
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

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