RTN1 reticulon 1 [Homo sapiens (human)] - Gene

Summary

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

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_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
[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].
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.
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.
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.
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.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-79018 (e-PCR)
- UniSTS:101395

RH122048 (e-PCR)
- UniSTS:134684

SHGC-104853 (e-PCR)
- UniSTS:169010

RH80660 (e-PCR)
- UniSTS:87357

G36061 (e-PCR)
- UniSTS:19802

G35945 (e-PCR)
- UniSTS:51356

RH68289 (e-PCR)
- UniSTS:17888

SHGC-12509 (e-PCR)
- UniSTS:6639

G35773 (e-PCR)
- UniSTS:59125

G17818 (e-PCR)
- UniSTS:1278

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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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

NG_029558.2 RefSeqGene

Range

5000..279793

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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

NC_000014.9 Reference GRCh38.p14 Primary Assembly

Range

59595976..59870776 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047431674.1 → XP_047287630.1 reticulon-1 isoform X2
XM_011537063.4 → XP_011535365.1 reticulon-1 isoform X1

RNA

XR_007064042.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060938.1 Alternate T2T-CHM13v2.0

Range

53802909..54078046 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054376553.1 → XP_054232528.1 reticulon-1 isoform X2
XM_054376552.1 → XP_054232527.1 reticulon-1 isoform X1

RNA

XR_008488892.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001243115.1: Suppressed sequence

Description

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