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    RETREG1 reticulophagy regulator 1 [ Homo sapiens (human) ]

    Gene ID: 54463, updated on 17-Jun-2024

    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; AllianceGenome:HGNC:25964
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See RETREG1 in Genome Data Viewer
    Location:
    5p15.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (16473053..16616997, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (16412398..16556330, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (16473162..16617106, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2150 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:16436325-16436842 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22421 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:16467094-16467316 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22422 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22423 Neighboring gene zinc finger protein 622 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:16535515-16536016 Neighboring gene Sharpr-MPRA regulatory region 7449 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:16575232-16575796 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:16606665-16606881 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15947 Neighboring gene RETREG1 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 7757 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:16711171-16711672 Neighboring gene myosin X Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:16718131-16718712 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr5:16721745-16722434 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:16741036-16741940 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:16741941-16742846 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr5:16754668-16755308 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:16755309-16755949 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:16794335-16794862 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:16794863-16795390 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:16805998-16806498 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:16806499-16806999 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:16809483-16809982 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:16829693-16830613 Neighboring gene RNA, 5S ribosomal pseudogene 179 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_83741 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:16897552-16898412 Neighboring gene ribosomal protein S26 pseudogene 28

    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

    • FLJ20152, FLJ22155, FLJ22179

    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 organization IEA
    Inferred from Electronic Annotation
    more info
     
    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
     
    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
     
    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
    PubMed 
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in 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

    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)

    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.

    Genomic

    1. NG_016644.2 RefSeqGene

      Range
      4952..148972
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_363

    mRNA and Protein(s)

    1. NM_001034850.3NP_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
      Q69YN8, Q9H6K6, Q9H6L5, Q9H764, Q9NXM8
      UniProtKB/TrEMBL
      A0A804HKW5
      Related
      ENSP00000304642.9, ENST00000306320.10
      Conserved Domains (2) summary
      pfam02453
      Location:85233
      Reticulon; Reticulon
      cl21460
      Location:323415
      HAD_like; Haloacid Dehalogenase-like Hydrolases
    2. NM_019000.5NP_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:182274
      HAD_like; Haloacid Dehalogenase-like Hydrolases

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      16473053..16616997 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011514053.4XP_011512355.1  reticulophagy regulator 1 isoform X1

      UniProtKB/TrEMBL
      A0A804HKW5
    2. XM_011514055.4XP_011512357.1  reticulophagy regulator 1 isoform X3

      Conserved Domains (1) summary
      cl21460
      Location:190282
      HAD_like; Haloacid Dehalogenase-like Hydrolases
    3. XM_011514054.3XP_011512356.1  reticulophagy regulator 1 isoform X2

      UniProtKB/TrEMBL
      A0A804HHX5
      Related
      ENSP00000506804.1, ENST00000682142.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      16412398..16556330 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054352831.1XP_054208806.1  reticulophagy regulator 1 isoform X1

      UniProtKB/TrEMBL
      A0A804HKW5
    2. XM_054352833.1XP_054208808.1  reticulophagy regulator 1 isoform X3

    3. XM_054352832.1XP_054208807.1  reticulophagy regulator 1 isoform X2

      UniProtKB/TrEMBL
      A0A804HHX5