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

Gene ID: 162427, updated on 3-Oct-2018

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; Vega:OTTHUMG00000180275
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
Expression
Ubiquitous expression in testis (RPKM 16.0), skin (RPKM 14.1) and 25 other tissues See more
Orthologs

Genomic context

See RETREG3 in Genome Data Viewer
Location:
17q21.2
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (42579508..42609427, complement)
105 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 MLX, MAX dimerization protein Neighboring gene PSMC3 interacting protein Neighboring gene tubulin gamma 1 Neighboring gene ATP synthase membrane subunit g pseudogene 7 Neighboring gene high mobility group box 3 pseudogene 27

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 Jun 15 11:32:44 2016

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
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
positive regulation of neuron projection development IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
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)

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_178126.3NP_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)
    AI307353, BC049370, BX647175, DB289370
    Consensus CDS
    CCDS11432.1
    UniProtKB/Swiss-Prot
    Q86VR2
    Related
    ENSP00000309432.4, OTTHUMP00000263800, ENST00000309428.9, OTTHUMT00000450536
    Conserved Domains (1) summary
    pfam02453
    Location:60210
    Reticulon; Reticulon

RNA

  1. NR_026697.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon in the coding region, compared to variant 1, which results in a frameshift and an early stop codon. The transcript is sufficiently abundant to represent as a RefSeq record, however, the predicted protein is not represented because the product is significantly truncated and the transcript is a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AI307353, AK294791, BX647175, DB289370
    Related
    ENST00000589797.5, OTTHUMT00000450535

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011524440.2XP_011522742.1  reticulophagy regulator 3 isoform X1

    UniProtKB/TrEMBL
    K7EQI9
    Related
    ENSP00000467847.1, OTTHUMP00000263801, ENST00000585894.5, OTTHUMT00000450537
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