RETREG1 reticulophagy regulator 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RETREG1provided by HGNC
Official Full Name: reticulophagy regulator 1provided by HGNC
Primary source: HGNC:HGNC:25964
See related: Ensembl:ENSG00000154153 MIM:613114
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: JK1; JK-1; FAM134B
Summary: The protein encoded by this gene is a cis-Golgi transmembrane protein that may be necessary for the long-term survival of nociceptive and autonomic ganglion neurons. Mutations in this gene are a cause of hereditary sensory and autonomic neuropathy type IIB (HSAN IIB), and this gene may also play a role in susceptibility to vascular dementia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
Expression: Broad expression in heart (RPKM 29.0), brain (RPKM 19.9) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5p15.1

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
109.20211119	current	GRCh38.p13 (GCF_000001405.39)	5	NC_000005.10 (16473038..16617096, complement)
105.20201022	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (16473162..16617106, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Overexpression of family with sequence similarity 134, member B (FAM134B) in colon cancers and its tumor suppressive properties in vitro.
Title: Overexpression of family with sequence similarity 134, member B (FAM134B) in colon cancers and its tumor suppressive properties in vitro.
MiT/TFE factors control ER-phagy via transcriptional regulation of FAM134B.
Title: MiT/TFE factors control ER-phagy via transcriptional regulation of FAM134B.
Novel exomic rare variants associated with venous thrombosis.
Title: Novel exomic rare variants associated with venous thrombosis.
Differential expression of full-length and NH2 terminally truncated FAM134B isoforms in normal physiology and cancer.
Title: Differential expression of full-length and NH<sub>2</sub> terminally truncated FAM134B isoforms in normal physiology and cancer.
FAM134B oligomerization drives endoplasmic reticulum membrane scission for ER-phagy.
Title: FAM134B oligomerization drives endoplasmic reticulum membrane scission for ER-phagy.
Overexpression of FAM134B alone in HeLa cells is sufficient to impair ER homeostasis and cause ER stress and cell death.
Title: Excessive ER-phagy mediated by the autophagy receptor FAM134B results in ER stress, the unfolded protein response, and cell death in HeLa cells.
Results provide evidence that FAM134B is required for autophagy of procollagen.
Title: A selective ER-phagy exerts procollagen quality control via a Calnexin-FAM134B complex.
Fam134b is an oncogene that plays a crucial role in hepatocellular carcinoma via the Akt signaling pathway.
Title: FAM134B induces tumorigenesis and epithelial-to-mesenchymal transition via Akt signaling in hepatocellular carcinoma.
FAM134B could play crucial roles in the initiation and progression of esophageal squamous cell carcinoma, and FAM134B protein expression has potential predictive value.
Title: FAM134B promotes esophageal squamous cell carcinoma in vitro and its correlations with clinicopathologic features.
Through molecular dynamic simulations of FAM134B in flat and curved membranes, we relate the dynamic RHD structure with its two wedge-shaped transmembrane helical hairpins and two amphipathic helices to FAM134B functions in membrane-curvature induction and curvature-mediated protein sorting.
Title: Curvature induction and membrane remodeling by FAM134B reticulon homology domain assist selective ER-phagy.

Submit: New GeneRIF Correction See all GeneRIFs (29)

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
Hereditary sensory and autonomic neuropathy type IIA MedGen: C2752089 OMIM: 201300 GeneReviews: Hereditary Sensory and Autonomic Neuropathy Type II	Compare labs
Hereditary sensory and autonomic neuropathy type IIB MedGen: C2751092 OMIM: 613115 GeneReviews: Hereditary Sensory and Autonomic Neuropathy Type II	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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Markers

RH47732 (e-PCR)
- UniSTS:35905

D5S2685 (e-PCR)
- UniSTS:44107

SHGC-85175 (e-PCR)
- UniSTS:104021

D5S2532 (e-PCR)
- UniSTS:12380

STS-N47332 (e-PCR)
- UniSTS:21861

SHGC-77754 (e-PCR)
- UniSTS:95942

Homology

Homologs of the RETREG1 gene: The RETREG1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 419 organisms have orthologs with human gene RETREG1
Orthologs

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 mitophagy	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of neuron apoptotic process	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in negative regulation of neuron apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in reticulophagy	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in reticulophagy	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sensory perception of pain	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in white fat cell differentiation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cis-Golgi network	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info
is_active_in integral component of endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in integral component of endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear body	IDA Inferred from Direct Assay more info
located_in nucleolus	IDA Inferred from Direct Assay 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.

Genomic

NG_016644.2 RefSeqGene

Range

4952..148972

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_363

mRNA and Protein(s)

NM_001034850.3 → NP_001030022.1 reticulophagy regulator 1 isoform 1

See identical proteins and their annotated locations for NP_001030022.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC020980, AC022113

Consensus CDS

CCDS43304.1

UniProtKB/Swiss-Prot

Q9H6L5

Related

ENSP00000304642.9, ENST00000306320.10

Conserved Domains (2) summary

pfam02453
Location:85 → 233

Reticulon; Reticulon

cl21460
Location:323 → 415

HAD_like; Haloacid Dehalogenase-like Hydrolases
NM_019000.5 → NP_061873.2 reticulophagy regulator 1 isoform 2

See identical proteins and their annotated locations for NP_061873.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) is shorter and has a distinct N-terminus, compared to isoform 1.

Source sequence(s)

AC022113, AK024920, AL832438

Consensus CDS

CCDS43305.1

UniProtKB/Swiss-Prot

Q9H6L5

Related

ENSP00000382691.2, ENST00000399793.6

Conserved Domains (1) summary

cl21460
Location:182 → 274

HAD_like; Haloacid Dehalogenase-like Hydrolases

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000005.10 Reference GRCh38.p13 Primary Assembly

Range

16473038..16617096 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011514053.3 → XP_011512355.1 reticulophagy regulator 1 isoform X1
XM_011514055.3 → XP_011512357.1 reticulophagy regulator 1 isoform X3

Conserved Domains (1) summary

cl21460
Location:190 → 282

HAD_like; Haloacid Dehalogenase-like Hydrolases
XM_024446118.1 → XP_024301886.1 reticulophagy regulator 1 isoform X4

Related

ENSP00000508335.1, ENST00000683414.1

Conserved Domains (1) summary

cl21460
Location:148 → 240

HAD_like; Haloacid Dehalogenase-like Hydrolases
XM_011514054.2 → XP_011512356.1 reticulophagy regulator 1 isoform X2

Related

ENSP00000506804.1, ENST00000682142.1
XM_024446117.1 → XP_024301885.1 reticulophagy regulator 1 isoform X4

Related

ENSP00000507536.1, ENST00000682628.1

Conserved Domains (1) summary

cl21460
Location:148 → 240

HAD_like; Haloacid Dehalogenase-like Hydrolases