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 ... See more...

Aliases for RTN1 Gene

Aliases for RTN1 Gene

  • Reticulon 1 2 3 5
  • Neuroendocrine-Specific Protein 2 3 4
  • Reticulon-1 3 4
  • NSP 3 4

External Ids for RTN1 Gene

Previous HGNC Symbols for RTN1 Gene

  • NSP

Previous GeneCards Identifiers for RTN1 Gene

  • GC14M057386
  • GC14M053855
  • GC14M058052
  • GC14M059132
  • GC14M060062
  • GC14M040226

Summaries for RTN1 Gene

Entrez Gene Summary for RTN1 Gene

  • 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]

GeneCards Summary for RTN1 Gene

RTN1 (Reticulon 1) is a Protein Coding gene. Diseases associated with RTN1 include Spinal Cord Neuroblastoma and Spinal Cord Primitive Neuroectodermal Neoplasm. An important paralog of this gene is RTN4.

UniProtKB/Swiss-Prot Summary for RTN1 Gene

  • May be involved in neuroendocrine secretion or in membrane trafficking in neuroendocrine cells.

Gene Wiki entry for RTN1 Gene

Additional gene information for RTN1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RTN1 Gene

Genomics for RTN1 Gene

GeneHancer (GH) Regulatory Elements for RTN1 Gene

Promoters and enhancers for RTN1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J059630 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas 500.1 +240.5 240539 1.8 EP300 CTCF GABPA ZBTB26 MXI1 ZNF341 POLR2A SMC3 SP2 ZNF263 RTN1 RF00994-326 HSALNG0101675
GH14J059870 Promoter/Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas 508.2 +0.9 938 3 EP300 ZIC2 ZBTB26 SAP30 RFX1 CTBP1 ZNF341 EZH2 MYC ZBTB17 RTN1 PCNX4 CCDC175 lnc-LRRC9-3
GH14J059771 Enhancer 1 Ensembl ENCODE 30.6 +98.8 98838 2.4 ZSCAN5C ZNF639 ZIC2 EP300 OSR2 BCL11A MYNN WT1 TCF7L2 GATA3 piR-50443-115 RTN1 GPR135 lnc-LRRC9-3
GH14J059680 Enhancer 0.5 Ensembl 57.4 +190.5 190538 0.6 EP300 RFX1 MXI1 ESR1 MAX SCRT2 RTN1 lnc-CCDC175-2 lnc-LRRC9-5
GH14J059918 Promoter/Enhancer 1.6 Ensembl ENCODE CraniofacialAtlas 11.2 -48.9 -48936 2 CTCF USF1 POLR2G NCOR1 ZBTB10 TCF7 ZBTB26 SAP30 RFX1 TGIF2 ENSG00000261120 LRRC9 RTN1 CCDC175
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RTN1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RTN1

Top Transcription factor binding sites by QIAGEN in the RTN1 gene promoter:
  • AML1a
  • CUTL1
  • E47
  • FOXL1
  • Meis-1
  • NF-1
  • Sp1
  • Tal-1

Genomic Locations for RTN1 Gene

Genomic Locations for RTN1 Gene
chr14:59,595,976-59,870,839
(GRCh38/hg38)
Size:
274,864 bases
Orientation:
Minus strand
chr14:60,062,694-60,337,684
(GRCh37/hg19)
Size:
274,991 bases
Orientation:
Minus strand

Genomic View for RTN1 Gene

Genes around RTN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RTN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RTN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RTN1 Gene

Proteins for RTN1 Gene

  • Protein details for RTN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16799-RTN1_HUMAN
    Recommended name:
    Reticulon-1
    Protein Accession:
    Q16799
    Secondary Accessions:
    • Q16800
    • Q16801
    • Q5BKZ4
    • Q9BQ59

    Protein attributes for RTN1 Gene

    Size:
    776 amino acids
    Molecular mass:
    83618 Da
    Quaternary structure:
    • Interacts with NDRG1 (PubMed:15922294). Isoform RTN1-A: interacts with TMEM33 (PubMed:25612671). Isoform RTN1-C: interacts with UGCG; regulates the ceramide glucosyltransferase activity of UGCG (PubMed:12873973).

    Alternative splice isoforms for RTN1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RTN1 Gene

Post-translational modifications for RTN1 Gene

Other Protein References for RTN1 Gene

No data available for DME Specific Peptides for RTN1 Gene

Domains & Families for RTN1 Gene

Gene Families for RTN1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted membrane proteins

Protein Domains for RTN1 Gene

Blocks:
  • Reticulon
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RTN1 Gene

GenScript: Design optimal peptide antigens:
  • Reticulon 1 isoform A (Q2L7A7_HUMAN)
  • RTN1 protein (Q6IAX4_HUMAN)
  • Neuroendocrine-specific protein (RTN1_HUMAN)
genes like me logo Genes that share domains with RTN1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for RTN1 Gene

Function for RTN1 Gene

Molecular function for RTN1 Gene

UniProtKB/Swiss-Prot Function:
May be involved in neuroendocrine secretion or in membrane trafficking in neuroendocrine cells.
GENATLAS Biochemistry:
reticulon 1,neuroendocrine specific protein,associated with the endoplasmic reticulum (reticulor),expressed in neural and endocrine tissues

Phenotypes From GWAS Catalog for RTN1 Gene

Gene Ontology (GO) - Molecular Function for RTN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12873973
genes like me logo Genes that share ontologies with RTN1: view
genes like me logo Genes that share phenotypes with RTN1: view

Animal Models for RTN1 Gene

MGI Knock Outs for RTN1:
  • Rtn1 Rtn1<tm1Yanr>

Animal Model Products

CRISPR Products

miRNA for RTN1 Gene

miRTarBase miRNAs that target RTN1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RTN1 Gene

Localization for RTN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RTN1 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RTN1 gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 5
nucleus 3
plasma membrane 2
cytosol 2
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (4)
  • Nuclear bodies (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RTN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IDA 12873973
GO:0005783 endoplasmic reticulum IDA,IEA 12873973
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005794 Golgi apparatus IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with RTN1: view

Pathways & Interactions for RTN1 Gene

PathCards logo

SuperPathways for RTN1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RTN1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for RTN1 Gene

Drugs & Compounds for RTN1 Gene

No Compound Related Data Available

Transcripts for RTN1 Gene

mRNA/cDNA for RTN1 Gene

5 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RTN1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c · 10d
SP1: - - -
SP2: - -
SP3: -
SP4:

Relevant External Links for RTN1 Gene

GeneLoc Exon Structure for
RTN1

Expression for RTN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RTN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RTN1 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x7.2), Brain - Anterior cingulate cortex (BA24) (x6.4), Brain - Cortex (x5.9), Brain - Cerebellar Hemisphere (x5.0), and Brain - Cerebellum (x4.0).

Protein differential expression in normal tissues from HIPED for RTN1 Gene

This gene is overexpressed in Fetal Brain (16.4), Brain (14.7), and Frontal cortex (11.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RTN1 Gene



Protein tissue co-expression partners for RTN1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RTN1

SOURCE GeneReport for Unigene cluster for RTN1 Gene:

Hs.368626

mRNA Expression by UniProt/SwissProt for RTN1 Gene:

Q16799-RTN1_HUMAN
Tissue specificity: Expressed in neural and neuroendocrine tissues and cell cultures derived therefrom. Expression of isoform RTN1-C is strongly correlated with neuronal differentiation.

Evidence on tissue expression from TISSUES for RTN1 Gene

  • Nervous system(5)
  • Lung(4.4)
  • Blood(4.2)
  • Liver(4.1)
genes like me logo Genes that share expression patterns with RTN1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for RTN1 Gene

Orthologs for RTN1 Gene

This gene was present in the common ancestor of animals.

Orthologs for RTN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RTN1 31 30
  • 98.97 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RTN1 31 30
  • 87.54 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RTN1 31 30
  • 87.37 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Rtn1 17 31 30
  • 83.42 (n)
rat
(Rattus norvegicus)
Mammalia Rtn1 30
  • 83.29 (n)
oppossum
(Monodelphis domestica)
Mammalia RTN1 31
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RTN1 31
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves RTN1 31 30
  • 67.8 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RTN1 31
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rtn1 30
  • 62.94 (n)
zebrafish
(Danio rerio)
Actinopterygii rtn1a 31 30
  • 54.32 (n)
OneToMany
rtn1b 31
  • 40 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Rtnl1 31
  • 25 (a)
ManyToMany
Rtnl2 31
  • 23 (a)
ManyToMany
CG42853 31
  • 16 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea ret-1 31
  • 5 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10170 31
  • 31 (a)
OneToMany
Species where no ortholog for RTN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RTN1 Gene

ENSEMBL:
Gene Tree for RTN1 (if available)
TreeFam:
Gene Tree for RTN1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RTN1: view image

Paralogs for RTN1 Gene

Paralogs for RTN1 Gene

(5) SIMAP similar genes for RTN1 Gene using alignment to 5 proteins:

  • RTN1_HUMAN
  • A8MT72_HUMAN
  • Q2L7A7_HUMAN
  • Q2NKQ5_HUMAN
  • Q6IAX4_HUMAN
genes like me logo Genes that share paralogs with RTN1: view

Variants for RTN1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RTN1 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
rs35645652 - p.Gly247Glu
rs35707243 - p.Ile357Val

Additional dbSNP identifiers (rs#s) for RTN1 Gene

Structural Variations from Database of Genomic Variants (DGV) for RTN1 Gene

Variant ID Type Subtype PubMed ID
esv1373092 CNV insertion 17803354
esv1643485 CNV deletion 17803354
esv2656864 CNV deletion 23128226
esv2672267 CNV deletion 23128226
esv2673231 CNV deletion 23128226
esv2748748 CNV deletion 23290073
esv3306309 CNV mobile element insertion 20981092
esv3363514 CNV duplication 20981092
esv3401189 CNV insertion 20981092
esv3451830 CNV insertion 20981092
esv3634653 CNV loss 21293372
esv3634654 CNV loss 21293372
esv3634655 CNV loss 21293372
esv3634656 CNV loss 21293372
nsv1070639 CNV deletion 25765185
nsv1120297 CNV tandem duplication 24896259
nsv1131142 CNV deletion 24896259
nsv1134380 CNV deletion 24896259
nsv1140129 CNV insertion 24896259
nsv1292 CNV insertion 18451855
nsv832811 CNV loss 17160897
nsv958765 CNV deletion 24416366

Variation tolerance for RTN1 Gene

Residual Variation Intolerance Score: 75.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.85; 67.25% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RTN1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RTN1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RTN1 Gene

Disorders for RTN1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for RTN1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
spinal cord neuroblastoma
  • neuroblastoma of the spinal cord
spinal cord primitive neuroectodermal neoplasm
  • spinal cord pnet
hereditary spastic paraplegia
  • spastic paraplegia 3, autosomal dominant
- elite association - COSMIC cancer census association via MalaCards
Search RTN1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RTN1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RTN1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RTN1 Gene

Publications for RTN1 Gene

  1. Neuronal differentiation is accompanied by NSP-C expression. (PMID: 9560466) Hens J … Broers JL (Cell and tissue research 1998) 3 4 23 54
  2. Identification and characterization of TMEM33 as a reticulon-binding protein. (PMID: 25612671) Urade T … Sakisaka T (The Kobe journal of medical sciences 2014) 3 4 54
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  4. Reticulon proteins: emerging players in neurodegenerative diseases. (PMID: 16505974) Yan R … Zhou X (Cellular and molecular life sciences : CMLS 2006) 3 23 54
  5. NDRG1 interacts with APO A-I and A-II and is a functional candidate for the HDL-C QTL on 8q24. (PMID: 15922294) Hunter M … Kalaydjieva L (Biochemical and biophysical research communications 2005) 3 4 54

Products for RTN1 Gene

Sources for RTN1 Gene