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

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: mouse all
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Genomic context

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_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Autosomal Recessive Retinitis Pigmentosa Associated with Three Novel REEP6 Variants in Chinese Population.
Title: Autosomal Recessive Retinitis Pigmentosa Associated with Three Novel REEP6 Variants in Chinese Population.
This report is not only the first description of a Cameroonian patient with autosomal recessive retinitis pigmentosa (arRP) associated with a REEP6 mutation, but also this particular genetic alteration. Substitution of p.Glu99Lys in REEP6 likely disrupts the interactions between REEP6 and the ER membrane.
Title: Novel REEP6 gene mutation associated with autosomal recessive retinitis pigmentosa.
Depletion of receptor accessory proteins REEP5 and REEP6 causes a decrease in CXC Chemokine Receptor 1 (CXCR1) signaling.
Title: The accessory proteins REEP5 and REEP6 refine CXCR1-mediated cellular responses and lung cancer progression.
study implicates REEP6 in retinal homeostasis and highlights a pathway previously uncharacterized in retinal dystrophy
Title: Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
DP1L1 polymorphisms are associated with colon cancer and IBD. This indicates that DP1L1 plays a functional role in these conditions. Thus DP1L1 may be a diagnostic and therapeutic target for colon cancer and IBD.
Title: Polymorphisms of the apoptosis-associated gene DP1L1 (deleted in polyposis 1-like 1) in colon cancer and inflammatory bowel disease.
Observational study of gene-disease association. (HuGE Navigator)
Title: Polymorphisms of the apoptosis-associated gene DP1L1 (deleted in polyposis 1-like 1) in colon cancer and inflammatory bowel disease.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Retinitis pigmentosa 77 MedGen: C4310626 OMIM: 617304 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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 more info	PubMed
located_in photoreceptor inner segment	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: receptor expression-enhancing protein 6

Names: 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.

Genomic

NG_055254.1 RefSeqGene

Range

5177..11923

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001329556.3 → NP_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:66 → 143

TB2_DP1_HVA22; TB2/DP1, HVA22 family
NM_138393.4 → NP_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:66 → 143

TB2_DP1_HVA22; TB2/DP1, HVA22 family