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    RTN1 reticulon 1 [ Homo sapiens (human) ]

    Gene ID: 6252, updated on 2-Nov-2024

    Summary

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    Official Symbol
    RTN1provided by HGNC
    Official Full Name
    reticulon 1provided by HGNC
    Primary source
    HGNC:HGNC:10467
    See related
    Ensembl:ENSG00000139970 MIM:600865; AllianceGenome:HGNC:10467
    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
    NSP
    Summary
    This gene belongs to the family of reticulon encoding genes. Reticulons are associated with the endoplasmic reticulum, and are involved in neuroendocrine secretion or in membrane trafficking in neuroendocrine cells. This gene is considered to be a specific marker for neurological diseases and cancer, and is a potential molecular target for therapy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2011]
    Expression
    Biased expression in brain (RPKM 96.0) and spleen (RPKM 6.9) See more
    Orthologs
    mouse all
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    Genomic context

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    See RTN1 in Genome Data Viewer
    Location:
    14q23.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (59595976..59870776, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (53802909..54078046, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (60062694..60337494, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903326 Neighboring gene trans-L-3-hydroxyproline dehydratase Neighboring gene JNK1/MAPK8 associated membrane protein Neighboring gene coiled-coil domain containing 175 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:60124167-60124668 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:60124669-60125168 Neighboring gene microRNA 5586 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5807 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:60386022-60387221 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8462 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8463 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8464 Neighboring gene leucine rich repeat containing 9 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:60459076-60459307 Neighboring gene PCNX4 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8465 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8466 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:60558835-60559468 Neighboring gene Sharpr-MPRA regulatory region 1153 Neighboring gene pecanex 4 Neighboring gene dehydrogenase/reductase 7

    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. Reticulon proteins: emerging players in neurodegenerative diseases. Yan R, et al. Cell Mol Life Sci, 2006 Apr. PMID 16505974, Free PMC Article
    2. Reticulon RTN1-C(CT) peptide: a potential nuclease and inhibitor of histone deacetylase enzymes. Nepravishta R, et al. Biochemistry, 2010 Jan 19. PMID 20000484
    3. Acetylation of RTN-1C regulates the induction of ER stress by the inhibition of HDAC activity in neuroectodermal tumors. Fazi B, et al. Oncogene, 2009 Oct 29. PMID 19668229
    4. A metal-binding site in the RTN1-C protein: new perspectives on the physiological role of a neuronal protein. Nepravishta R, et al. Metallomics, 2012 May. PMID 22522967
    5. Reticulon1-C modulates protein disulphide isomerase function. Bernardoni P, et al. Cell Death Dis, 2013 Apr 4. PMID 23559015, Free PMC Article

    See all (76) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CircRTN1 acts as a miR-431-5p sponge to promote thyroid cancer progression by upregulating TGFA.
      Title: CircRTN1 acts as a miR-431-5p sponge to promote thyroid cancer progression by upregulating TGFA.
    2. Interoperability of RTN1A in dendrite dynamics and immune functions in human Langerhans cells.
      Title: Interoperability of RTN1A in dendrite dynamics and immune functions in human Langerhans cells.
    3. Reticulon-1A mediates diabetic kidney disease progression through endoplasmic reticulum-mitochondrial contacts in tubular epithelial cells.
      Title: Reticulon-1A mediates diabetic kidney disease progression through endoplasmic reticulum-mitochondrial contacts in tubular epithelial cells.
    4. [The Expression of RTN1 in Lung Adenocarcinoma and Its Effect on Immune Microenvironment].
      Title: [The Expression of RTN1 in Lung Adenocarcinoma and 
Its Effect on Immune Microenvironment].
    5. Prognostic efficacy of the RTN1 gene in patients with diffuse large B-cell lymphoma.
      Title: Prognostic efficacy of the RTN1 gene in patients with diffuse large B-cell lymphoma.
    6. Study findings show that RTN1A is a marker for cells of the dendritic lineage, including Langerhans cells and dermal dendritic cells.
      Title: The Reticulum-Associated Protein RTN1A Specifically Identifies Human Dendritic Cells.
    7. Results show that mice deficient in RTN1 are generally normal and that RTN1 is a predominantly expressed in the nervous system, mainly in neurons. In neurons, RTN1 is enriched in dendrites. Also, RTN1 deficiency shows no obvious effects on BACE1 activity due to compensation by RTN3, as RTN1 deficiency causes elevation of RTN3 expression suggesting that RTN1 does not have a prominent role in Alzheimer's pathogenesis.
      Title: RTN1 and RTN3 protein are differentially associated with senile plaques in Alzheimer's brains.
    8. Data suggest that reticulon 1A (RTN1A) functions not only as an endoplasmic reticulum-shaping protein but also as a protein that promotes contacts between endoplasmic reticulum and mitochondria.
      Title: Ascorbate peroxidase proximity labeling coupled with biochemical fractionation identifies promoters of endoplasmic reticulum-mitochondrial contacts.
    9. Results suggest evidence of genetic association between common variants in RTN1 and end-stage kidney disease in African-Americans and European-Americans.
      Title: Association Analysis of the Reticulon 1 Gene in End-Stage Kidney Disease.
    10. RTN1A is a key mediator for proteinuria-induced tubular cell toxicity and renal fibrosis.
      Title: Knockdown of RTN1A attenuates ER stress and kidney injury in albumin overload-induced nephropathy.
    Submit: New GeneRIF Correction See all GeneRIFs (23)

    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

    • MGC133250

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in brain development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in endoplasmic reticulum tubular network formation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of amyloid-beta formation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in neuron differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in neuron differentiation IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in dendrite IEA
    Inferred from Electronic Annotation
    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 endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    is_active_in neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in postsynaptic density IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    reticulon-1
    Names
    neuroendocrine-specific protein

    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_029558.2 RefSeqGene

      Range
      5000..279793
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001363702.1 → NP_001350631.1  reticulon-1 isoform D

      Status: REVIEWED

      Source sequence(s)
      AL121694, BC111694
      Consensus CDS
      CCDS86396.1
      UniProtKB/TrEMBL
      A8MT72, B7Z4K5
      Related
      ENSP00000378525.1, ENST00000395090.5
      Conserved Domains (1) summary
      pfam02453
      Location:8 → 170
      Reticulon

    2. NM_021136.3 → NP_066959.1  reticulon-1 isoform A

      See identical proteins and their annotated locations for NP_066959.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (A, also known as NSP-A).
      Source sequence(s)
      AL121694, AL133299, AL139194
      Consensus CDS
      CCDS9740.1
      UniProtKB/Swiss-Prot
      Q16799, Q16800, Q16801, Q5BKZ4, Q9BQ59
      UniProtKB/TrEMBL
      Q2NKQ5
      Related
      ENSP00000267484.5, ENST00000267484.10
      Conserved Domains (1) summary
      pfam02453
      Location:591 → 753
      Reticulon; Reticulon

    3. NM_206852.3 → NP_996734.1  reticulon-1 isoform C

      See identical proteins and their annotated locations for NP_996734.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and 5' coding region, compared to variant 1. The resulting isoform (C, also known as NSP-C) contains a distinct N-terminus and is shorter than isoform A.
      Source sequence(s)
      AL121694
      Consensus CDS
      CCDS9741.1
      UniProtKB/TrEMBL
      A8K3B9, Q6IAX4
      Related
      ENSP00000340716.4, ENST00000342503.8
      Conserved Domains (1) summary
      pfam02453
      Location:23 → 185
      Reticulon

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      59595976..59870776 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047431674.1 → XP_047287630.1  reticulon-1 isoform X2

    2. XM_011537063.4 → XP_011535365.1  reticulon-1 isoform X1

    RNA

    1. XR_007064042.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      53802909..54078046 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054376553.1 → XP_054232528.1  reticulon-1 isoform X2

    2. XM_054376552.1 → XP_054232527.1  reticulon-1 isoform X1

    RNA

    1. XR_008488892.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001243115.1: Suppressed sequence

      Description
      NM_001243115.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.

    2. NM_206857.1: Suppressed sequence

      Description
      NM_206857.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein, and the transcript appears to retain intronic sequence at its 5' end.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q16799.1 GenPept UniProtKB/Swiss-Prot:Q16799

    Gene LinkOut

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

    Chemical Information
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