Reep1 receptor accessory protein 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Reep1provided by MGI
Official Full Name: receptor accessory protein 1provided by MGI
Primary source: MGI:MGI:1098827
See related: Ensembl:ENSMUSG00000052852 AllianceGenome:MGI:1098827
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: D6Ertd253e
Summary: Predicted to enable microtubule binding activity and olfactory receptor binding activity. Involved in regulation of intracellular transport. Located in endoplasmic reticulum membrane and endoplasmic reticulum tubular network. Is expressed in diaphragm; nervous system; neural retina; and skeletal musculature. Used to study hereditary spastic paraplegia 31. Human ortholog(s) of this gene implicated in autosomal dominant distal hereditary motor neuronopathy 12; autosomal recessive distal hereditary motor neuronopathy 6; and hereditary spastic paraplegia 31. Orthologous to human REEP1 (receptor accessory protein 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in CNS E18 (RPKM 80.0), whole brain E14.5 (RPKM 64.9) and 9 other tissues See more
Orthologs: human all
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Genomic context

Location:: 6 C1; 6 32.2 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (71684413..71787694)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (71707429..71810710)

Chromosome 6 - NC_000072.7 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?

REEP1 Preserves Motor Function in SOD1[G93A] Mice by Improving Mitochondrial Function via Interaction with NDUFA4.
Title: REEP1 Preserves Motor Function in SOD1(G93A) Mice by Improving Mitochondrial Function via Interaction with NDUFA4.
Transverse endoplasmic reticulum expansion in hereditary spastic paraplegia corticospinal axons.
Title: Transverse endoplasmic reticulum expansion in hereditary spastic paraplegia corticospinal axons.
Inhibition of ER stress improves progressive motor deficits in a REEP1-null mouse model of hereditary spastic paraplegia.
Title: Inhibition of ER stress improves progressive motor deficits in a REEP1-null mouse model of hereditary spastic paraplegia.
REEP1 co-immunoprecipitates with seipin in cells. This strengthens the link between alterations in reticulum morphogenesis and lipid abnormalities, with important pathogenic implications for the most common forms of Hereditary spastic paraplegias.
Title: Reep1 null mice reveal a converging role for hereditary spastic paraplegia proteins in lipid droplet regulation.
Functional mutation analysis reveal that distinct pathomechanisms are associated with REEP1 mutations and shed new light on its probable functions.
Title: Functional mutation analysis provides evidence for a role of REEP1 in lipid droplet biology.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (1) 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

C87808 (e-PCR)
- UniSTS:159515

RH126670 (e-PCR)
- UniSTS:167473

D0M6Mit143 (e-PCR)
- UniSTS:130686

D6Mit143 (e-PCR), detects polymorphism
- UniSTS:130686

AW558420 (e-PCR)
- UniSTS:179390

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables microtubule binding	IBA Inferred from Biological aspect of Ancestor more info
enables microtubule binding	ISO Inferred from Sequence Orthology more info
enables microtubule binding	ISS Inferred from Sequence or Structural Similarity more info
enables olfactory receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables olfactory receptor binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in endoplasmic reticulum tubular network organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in endoplasmic reticulum tubular network organization	ISO Inferred from Sequence Orthology more info
involved_in endoplasmic reticulum tubular network organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein insertion into membrane	ISO Inferred from Sequence Orthology more info
involved_in regulation of intracellular transport	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
is_active_in cytoplasmic microtubule	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	ISS Inferred from Sequence or Structural Similarity more info
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in endoplasmic reticulum tubular network	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum tubular network	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrial membrane	IEA Inferred from Electronic Annotation more info
NOT located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: receptor expression-enhancing protein 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_178608.4 → NP_848723.1 receptor expression-enhancing protein 1

See identical proteins and their annotated locations for NP_848723.1

Status: VALIDATED

Source sequence(s)

BC046826, CX239705

Consensus CDS

CCDS51807.1

UniProtKB/Swiss-Prot

Q8BGH4

Related

ENSMUSP00000112662.2, ENSMUST00000121469.2

Conserved Domains (1) summary

pfam03134
Location:19 → 94

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_000072.7 Reference GRCm39 C57BL/6J

Range

71684413..71787694

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030255495.1 → XP_030111355.1 receptor expression-enhancing protein 1 isoform X1

UniProtKB/TrEMBL

A0A1D5RLF1

Related

ENSMUSP00000148341.2, ENSMUST00000212792.2

Conserved Domains (1) summary

pfam03134
Location:19 → 94

TB2_DP1_HVA22; TB2/DP1, HVA22 family