RETREG3 reticulophagy regulator family member 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RETREG3provided by HGNC
Official Full Name: reticulophagy regulator family member 3provided by HGNC
Primary source: HGNC:HGNC:27258
See related: Ensembl:ENSG00000141699 MIM:616498; AllianceGenome:HGNC:27258
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: FAM134C
Summary: Predicted to enable endoplasmic reticulum-autophagosome adaptor activity. Involved in endoplasmic reticulum tubular network organization; positive regulation of neuron projection development; and reticulophagy. Located in endoplasmic reticulum tubular network. Part of protein-containing complex. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in testis (RPKM 16.0), skin (RPKM 14.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q21.2

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (42579508..42609427, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (43436673..43466572, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (40731526..40761445, complement)

Chromosome 17 - NC_000017.11 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: 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?

RTN4B interacting protein FAM134C promotes ER membrane curvature and has a functional role in autophagy.
Title: RTN4B interacting protein FAM134C promotes ER membrane curvature and has a functional role in autophagy.
We verified that NRF-1 positively regulates FAM134C and ENOX1, and negatively regulates C3orf10 in human neuroblastoma IMR-32 cells and primary rat cortical neurons.
Title: Novel genes FAM134C, C3orf10 and ENOX1 are regulated by NRF-1 and differentially regulate neurite outgrowth in neuroblastoma cells and hippocampal neurons.

Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

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

RH78087 (e-PCR)
- UniSTS:28177

D17S1344 (e-PCR)
- UniSTS:39988

MARC_17007-17008:1020868174:1 (e-PCR)
- UniSTS:268181

SHGC-78090 (e-PCR)
- UniSTS:102048

G60293 (e-PCR)
- UniSTS:137398

A005R24 (e-PCR)
- UniSTS:17359

D13S1639 (e-PCR)
- UniSTS:473568

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables endoplasmic reticulum-autophagosome adaptor activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in collagen catabolic process	IEA Inferred from Electronic Annotation more info
involved_in endoplasmic reticulum tubular network organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of neuron projection development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in reticulophagy	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum tubular network	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: reticulophagy regulator 3

Names: family with sequence similarity 134 member C; protein FAM134C

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_178126.4 → NP_835227.1 reticulophagy regulator 3

See identical proteins and their annotated locations for NP_835227.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer, protein coding transcript.

Source sequence(s)

AC067852

Consensus CDS

CCDS11432.1

UniProtKB/Swiss-Prot

B3KR75, Q86VR2

Related

ENSP00000309432.4, ENST00000309428.10

Conserved Domains (1) summary

pfam02453
Location:60 → 210

Reticulon; Reticulon