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    RETREG1 reticulophagy regulator 1 [ Homo sapiens (human) ]

    Gene ID: 54463, updated on 6-Nov-2024

    Summary

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    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
    mouse all
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    Genomic context

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    See RETREG1 in Genome Data Viewer
    Location:
    5p15.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (16473053..16616997, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (16412398..16556330, complement)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. FAM134B induces tumorigenesis and epithelial-to-mesenchymal transition via Akt signaling in hepatocellular carcinoma. Zhang ZQ, et al. Mol Oncol, 2019 Apr. PMID 30556279, Free PMC Article
    2. FAM134B-Mediated ER-phagy Upregulation Attenuates AGEs-Induced Apoptosis and Senescence in Human Nucleus Pulposus Cells. Luo R, et al. Oxid Med Cell Longev, 2021. PMID 34394825, Free PMC Article
    3. Mutation in FAM134B causing hereditary sensory neuropathy with spasticity in a Turkish family. Ilgaz Aydinlar E, et al. Muscle Nerve, 2014 May. PMID 24327336
    4. JK1 (FAM134B) gene and colorectal cancer: a pilot study on the gene copy number alterations and correlations with clinicopathological parameters. Kasem K, et al. Exp Mol Pathol, 2014 Aug. PMID 24825067
    5. JK1 (FAM134B) represses cell migration in colon cancer: a functional study of a novel gene. Kasem K, et al. Exp Mol Pathol, 2014 Aug. PMID 24927874

    See all (76) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Excessive ER-phagy mediated by FAM134B contributes to trophoblast cell mitochondrial dysfunction in preeclampsia.
      Title: Excessive ER-phagy mediated by FAM134B contributes to trophoblast cell mitochondrial dysfunction in preeclampsia.
    2. Upregulation of FAM134B inhibits endoplasmic reticulum stress-related degradation protein expression and promotes hepatocellular carcinogenesis.
      Title: Upregulation of FAM134B inhibits endoplasmic reticulum stress-related degradation protein expression and promotes hepatocellular carcinogenesis.
    3. Phenotypic features of RETREG1-related hereditary sensory autonomic neuropathy.
      Title: Phenotypic features of RETREG1-related hereditary sensory autonomic neuropathy.
    4. Elevated FAM134B expression induces radiation-sensitive in hepatocellular carcinoma.
      Title: Elevated FAM134B expression induces radiation-sensitive in hepatocellular carcinoma.
    5. Molecular characterization of wild-type and HSAN2B-linked FAM134B.
      Title: Molecular characterization of wild-type and HSAN2B-linked FAM134B.
    6. A regulatory circuit comprising the CBP and SIRT7 regulates FAM134B-mediated ER-phagy.
      Title: A regulatory circuit comprising the CBP and SIRT7 regulates FAM134B-mediated ER-phagy.
    7. Genomics Links Inflammation With Neurocognitive Impairment in Children Living With Human Immunodeficiency Virus Type-1.
      Title: Genomics Links Inflammation With Neurocognitive Impairment in Children Living With Human Immunodeficiency Virus Type-1.
    8. Targeting FAM134B-mediated reticulophagy activates sorafenib-induced ferroptosis in hepatocellular carcinoma.
      Title: Targeting FAM134B-mediated reticulophagy activates sorafenib-induced ferroptosis in hepatocellular carcinoma.
    9. RETREG1/FAM134B mediated autophagosomal degradation of AMFR/GP78 and OPA1 -a dual organellar turnover mechanism.
      Title: RETREG1/FAM134B mediated autophagosomal degradation of AMFR/GP78 and OPA1 -a dual organellar turnover mechanism.
    10. FAM134B-Mediated ER-phagy Upregulation Attenuates AGEs-Induced Apoptosis and Senescence in Human Nucleus Pulposus Cells.
      Title: FAM134B-Mediated ER-phagy Upregulation Attenuates AGEs-Induced Apoptosis and Senescence in Human Nucleus Pulposus Cells.
    Submit: New GeneRIF Correction See all GeneRIFs (39)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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

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    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)

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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.

    Genomic

    1. NG_016644.2 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001034850.3 → NP_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:85 → 233
      Reticulon; Reticulon
      cl21460
      Location:323 → 415
      HAD_like; Haloacid Dehalogenase-like Hydrolases

    2. NM_019000.5 → NP_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:182 → 274
      HAD_like; Haloacid Dehalogenase-like Hydrolases

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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_011514053.4 → XP_011512355.1  reticulophagy regulator 1 isoform X1

      UniProtKB/TrEMBL
      A0A804HKW5

    2. XM_011514055.4 → XP_011512357.1  reticulophagy regulator 1 isoform X3

      Conserved Domains (1) summary
      cl21460
      Location:190 → 282
      HAD_like; Haloacid Dehalogenase-like Hydrolases

    3. XM_011514054.3 → XP_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_054352831.1 → XP_054208806.1  reticulophagy regulator 1 isoform X1

    2. XM_054352833.1 → XP_054208808.1  reticulophagy regulator 1 isoform X3

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

      UniProtKB/TrEMBL
      A0A804HHX5
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H6L5.1 GenPept UniProtKB/Swiss-Prot:Q9H6L5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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