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RTN1 reticulon 1 [ Homo sapiens (human) ]

Gene ID: 6252, updated on 7-Apr-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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Location:
14q23.1
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (59595976..59870776, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (53802909..54078046, complement)
105.20220307 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
  • 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. Interoperability of RTN1A in dendrite dynamics and immune functions in human Langerhans cells. Cichoń MA, et al. Elife, 2022 Oct 12. PMID 36223176, Free PMC Article
  2. [The Expression of RTN1 in Lung Adenocarcinoma and 
Its Effect on Immune Microenvironment]. Zhu S, et al. Zhongguo Fei Ai Za Zhi, 2022 Jun 20. PMID 35747917, Free PMC Article
  3. Reticulon-1A mediates diabetic kidney disease progression through endoplasmic reticulum-mitochondrial contacts in tubular epithelial cells. Xie Y, et al. Kidney Int, 2022 Aug. PMID 35469894, Free PMC Article
  4. Prognostic efficacy of the RTN1 gene in patients with diffuse large B-cell lymphoma. Zamani-Ahmadmahmudi M, et al. Sci Rep, 2021 Oct 26. PMID 34702929, Free PMC Article
  5. The Reticulum-Associated Protein RTN1A Specifically Identifies Human Dendritic Cells. Gschwandtner M, et al. J Invest Dermatol, 2018 Jun. PMID 29369773

See all (70) 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
  
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 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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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_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_2023_10

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

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