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RETREG1 reticulophagy regulator 1 [ Homo sapiens (human) ]

Gene ID: 54463, updated on 12-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
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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 promotes esophageal squamous cell carcinoma in vitro and its correlations with clinicopathologic features. Islam F, et al. Hum Pathol, 2019 May. PMID 30794892
  2. Identification of Novel FAM134B (JK1) Mutations in Oesophageal Squamous Cell Carcinoma. Haque MH, et al. Sci Rep, 2016 Jul 4. PMID 27373372, Free PMC Article
  3. Stage dependent expression and tumor suppressive function of FAM134B (JK1) in colon cancer. Islam F, et al. Mol Carcinog, 2017 Jan. PMID 27120410
  4. Overexpression of family with sequence similarity 134, member B (FAM134B) in colon cancers and its tumor suppressive properties in vitro. Lee KT, et al. Cancer Biol Ther, 2020 Oct 2. PMID 32857678, Free PMC Article
  5. Dengue and Zika viruses subvert reticulophagy by NS2B3-mediated cleavage of FAM134B. Lennemann NJ, et al. Autophagy, 2017 Feb. PMID 28102736, Free PMC Article

See all (77) 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)

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

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