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

Gene ID: 162427, updated on 22-Sep-2022

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
Involved in positive regulation of neuron projection development. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 16.0), skin (RPKM 14.1) and 25 other tissues See more
Orthologs
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Genomic context

See RETREG3 in Genome Data Viewer
Location:
17q21.2
Exon count:
10
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (42579508..42609427, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (43436673..43466572, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (40731526..40761445, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene Coenzyme A synthase Neighboring gene MAX dimerization protein MLX Neighboring gene PSMC3 interacting protein Neighboring gene tubulin gamma 1 Neighboring gene CRISPRi-validated cis-regulatory element chr17.2672

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ33806

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 tubular network IDA
Inferred from Direct Assay
more info
PubMed 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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)

  1. NM_178126.4NP_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:60210
    Reticulon; Reticulon

RNA

  1. NR_026697.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC067852
    Related
    ENST00000589797.5

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    42579508..42609427 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047435503.1XP_047291459.1  reticulophagy regulator 3 isoform X1

    UniProtKB/TrEMBL
    K7EQI9
    Related
    ENSP00000467847.1, ENST00000585894.5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    43436673..43466572 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)