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

    Gene ID: 162427, updated on 17-Jun-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See RETREG3 in Genome Data Viewer
    Location:
    17q21.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (42579508..42609427, complement)
    RS_2023_10 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 ATAC-STARR-seq lymphoblastoid active region 12206 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12207 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:40717370-40717876 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:40717877-40718383 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12208 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8537 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:40719397-40719904 Neighboring gene Coenzyme A synthase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8538 Neighboring gene MAX dimerization protein MLX Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12210 Neighboring gene PSMC3 interacting protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12211 Neighboring gene tubulin gamma 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12212 Neighboring gene CRISPRi-validated cis-regulatory element chr17.2672 Neighboring gene ATP synthase membrane subunit g pseudogene 7

    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

    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 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

    Preferred Names
    reticulophagy regulator 3
    Names
    family with sequence similarity 134 member C
    protein FAM134C

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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: GCF_000001405.40-RS_2023_10

    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)

    mRNA and Protein(s)

    1. XM_054315270.1XP_054171245.1  reticulophagy regulator 3 isoform X1

      UniProtKB/TrEMBL
      K7EQI9