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

Summary

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

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_000076.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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†.
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.
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.
study implicates REEP6 in retinal homeostasis and highlights a pathway previously uncharacterized in retinal dystrophy
Title: Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa.
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.
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)

Endonuclease-mediated (4) 1 citation
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Reep6 (e-PCR), detects polymorphism
- UniSTS:532565

NoName (e-PCR)
- UniSTS:236406

Reep6 (e-PCR), detects polymorphism
- UniSTS:502745

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)

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
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

NC_000076.7 Reference GRCm39 C57BL/6J

Range

80165831..80172275

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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