Retreg1 reticulophagy regulator 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Retreg1provided by MGI
Official Full Name: reticulophagy regulator 1provided by MGI
Primary source: MGI:MGI:1913520
See related: Ensembl:ENSMUSG00000022270 AllianceGenome:MGI:1913520
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: Fam134b; Retreg1d; 1810015C04Rik
Summary: Involved in negative regulation of neuron apoptotic process and reticulophagy. Acts upstream of or within mitophagy and white fat cell differentiation. Located in cis-Golgi network. Is expressed in several structures, including alimentary system; central nervous system; ganglia; metanephros; and reproductive system. Human ortholog(s) of this gene implicated in hereditary sensory and autonomic neuropathy type 2B. Orthologous to human RETREG1 (reticulophagy regulator 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in heart adult (RPKM 11.8), testis adult (RPKM 10.0) and 26 other tissues See more
Orthologs: human all
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Genomic context

Location:: 15 B1; 15 9.59 cM

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	15	NC_000081.7 (25840795..25973782)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	15	NC_000081.6 (25843298..25973696)

Chromosome 15 - NC_000081.7 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: 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?

[Influence of family with sequence similarity 134, member B-mediated reticulophagy on lipopolysaccharide-induced apoptosis of mouse dendritic cells].
Title: [Influence of family with sequence similarity 134, member B-mediated reticulophagy on lipopolysaccharide-induced apoptosis of mouse dendritic cells].
Identification of sensory dysfunction and nervous structure changes in Fam134b knockout mice.
Title: Identification of sensory dysfunction and nervous structure changes in Fam134b knockout mice.
FAM134B-mediated endoplasmic reticulum autophagy protects against sepsis myocardial injury in mice.
Title: FAM134B-mediated endoplasmic reticulum autophagy protects against sepsis myocardial injury in mice.
MiT/TFE factors control ER-phagy via transcriptional regulation of FAM134B.
Title: MiT/TFE factors control ER-phagy via transcriptional regulation of FAM134B.
Differential expression of full-length and NH2 terminally truncated FAM134B isoforms in normal physiology and cancer.
Title: Differential expression of full-length and NH(2) terminally truncated FAM134B isoforms in normal physiology and cancer.
These findings indicate that FAM134B improves adipocytes differentiation through enhancing mitophagy.
Title: FAM134B improves preadipocytes differentiation by enhancing mitophagy.
The FAM134B promotes lipid accumulation and adipogenic differentiation by increasing vesicle transport activity in the Golgi apparatus and inhibiting the lipolysis of lipid droplets (LDs).
Title: FAM134B promotes adipogenesis by increasing vesicular activity in porcine and 3T3-L1 adipocytes.
FAM134B-dependent endoplasmic reticulum (ER)-phagy is an important limiting event in Ebola virus (EBOV) replication in mouse cells
Title: FAM134B, the Selective Autophagy Receptor for Endoplasmic Reticulum Turnover, Inhibits Replication of Ebola Virus Strains Makona and Mayinga.
selective endoplasmic reticulum (ER)-phagy via FAM134 proteins is indispensable for mammalian cell homeostasis and controls ER morphology and turnover in mice and humans
Title: Regulation of endoplasmic reticulum turnover by selective autophagy.
show that loss-of-function mutations in FAM134B, encoding a newly identified cis-Golgi protein, cause hereditary sensory and autonomic neuropathy type II.
Title: Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy.

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Variation

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Alleles

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

Targeted (2) 1 citation
Endonuclease-mediated (4)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH143838 (e-PCR)
- UniSTS:233084

D15Mit253 (e-PCR), detects polymorphism
- UniSTS:127624

AU015349 (e-PCR)
- UniSTS:209073

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables endoplasmic reticulum-autophagosome adaptor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within autophagy	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within collagen catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within endoplasmic reticulum organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mitophagy	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of neuron apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of neuron apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of neuron apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in reticulophagy	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within reticulophagy	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within reticulophagy	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in reticulophagy	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in reticulophagy	ISO Inferred from Sequence Orthology more info
involved_in sensory perception of pain	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within white fat cell differentiation	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in cis-Golgi network	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in nuclear body	ISO Inferred from Sequence Orthology more info
located_in nucleolus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: reticulophagy regulator 1

Names: family with sequence similarity 134, member B; protein FAM134B; reticulophagy receptor 1; reticulophagy receptor Fam134b

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_001034851.2 → NP_001030023.1 reticulophagy regulator 1 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AC162303, AK015182, BY779369, CB724233

Consensus CDS

CCDS37050.1

UniProtKB/Swiss-Prot

E9QPM1, Q7TMY5, Q8VE91, Q9CUJ4, Q9D8Z5

Related

ENSMUSP00000022881.8, ENSMUST00000022881.15

Conserved Domains (1) summary

pfam02453
Location:68 → 216

Reticulon; Reticulon
NM_001277315.1 → NP_001264244.1 reticulophagy regulator 1 isoform 2

See identical proteins and their annotated locations for NP_001264244.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and 5' coding region and uses an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct and shorter N-terminus, compared to isoform 1. Both variants 2 and 3 encode the same isoform (2).

Source sequence(s)

AC162303, AK167327

Consensus CDS

CCDS37051.1

UniProtKB/Swiss-Prot

Q8VE91

Related

ENSMUSP00000154471.2, ENSMUST00000227275.2

Conserved Domains (1) summary

cl26593
Location:319 → 356

DUF2076; Uncharacterized protein conserved in bacteria (DUF2076)
NM_001277316.1 → NP_001264245.1 reticulophagy regulator 1 isoform 3

See identical proteins and their annotated locations for NP_001264245.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and 5' coding region and uses an alternate start codon, compared to variant 1. The encoded isoform (3) has a distinct and shorter N-terminus, compared to isoform 1.

Source sequence(s)

AC162303, AI645997, AK146972

Consensus CDS

CCDS88741.1

UniProtKB/Swiss-Prot

Q8VE91

Related

ENSMUSP00000154765.2, ENSMUST00000226438.2

Conserved Domains (2) summary

TIGR00600
Location:137 → 248

rad2; DNA excision repair protein (rad2)

pfam09849
Location:327 → 364

DUF2076; Uncharacterized protein conserved in bacteria (DUF2076)
NM_001277317.1 → NP_001264246.1 reticulophagy regulator 1 isoform 4

See identical proteins and their annotated locations for NP_001264246.1

Status: VALIDATED

Description

Transcript Variant: This variant (5) differs in the 5' UTR and 5' coding region and uses an alternate start codon, compared to variant 1. The encoded isoform (4) has a distinct and shorter N-terminus, compared to isoform 1.

Source sequence(s)

AC162303, AK007506

Consensus CDS

CCDS88742.1

UniProtKB/Swiss-Prot

Q8VE91

Related

ENSMUSP00000154070.2, ENSMUST00000228306.2

Conserved Domains (2) summary

TIGR00600
Location:119 → 230

rad2; DNA excision repair protein (rad2)

pfam09849
Location:309 → 346

DUF2076; Uncharacterized protein conserved in bacteria (DUF2076)
NM_001277318.1 → NP_001264247.1 reticulophagy regulator 1 isoform 5

See identical proteins and their annotated locations for NP_001264247.1

Status: VALIDATED

Description

Transcript Variant: This variant (6) differs in the 5' UTR and 5' coding region and uses an alternate start codon, compared to variant 1. The encoded isoform (5) has a distinct and shorter N-terminus, compared to isoform 1.

Source sequence(s)

AC131178, AC162303

Conserved Domains (1) summary

cl41772
Location:1 → 84

Arl6IP1_RETR3-like; ADP-ribosylation factor-like protein 6-interacting protein 1, Reticulophagy regulator 3, and similar proteins
NM_025459.3 → NP_079735.2 reticulophagy regulator 1 isoform 2

See identical proteins and their annotated locations for NP_079735.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region and uses an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct and shorter N-terminus, compared to isoform 1. Both variants 2 and 3 encode the same isoform (2).

Source sequence(s)

AC162303

Consensus CDS

CCDS37051.1

UniProtKB/Swiss-Prot

Q8VE91

Related

ENSMUSP00000106068.2, ENSMUST00000110438.3

Conserved Domains (1) summary

cl26593
Location:319 → 356

DUF2076; Uncharacterized protein conserved in bacteria (DUF2076)

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_000081.7 Reference GRCm39 C57BL/6J

Range

25840795..25973782

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036159536.1 → XP_036015429.1 reticulophagy regulator 1 isoform X1

Conserved Domains (1) summary

cd22560
Location:50 → 242

RETR1_RHD; N-terminal reticulon-homology domain of Reticulophagy regulator 1
XM_036159537.1 → XP_036015430.1 reticulophagy regulator 1 isoform X3

Conserved Domains (1) summary

cl41772
Location:1 → 84

Arl6IP1_RETR3-like; ADP-ribosylation factor-like protein 6-interacting protein 1, Reticulophagy regulator 3, and similar proteins
XM_006520134.5 → XP_006520197.1 reticulophagy regulator 1 isoform X2

See identical proteins and their annotated locations for XP_006520197.1

UniProtKB/Swiss-Prot

Q8VE91

Conserved Domains (1) summary

cl26593
Location:319 → 356

DUF2076; Uncharacterized protein conserved in bacteria (DUF2076)