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Aliases for RTN1 Gene

Aliases for RTN1 Gene

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

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. An important paralog of this gene is RTN4.

UniProtKB/Swiss-Prot for RTN1 Gene

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

Gene Wiki entry for RTN1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RTN1 Gene

Genomics for RTN1 Gene

Regulatory Elements for RTN1 Gene

Enhancers for RTN1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14F059772 0.5 Ensembl 30.6 +98.4 98366 0.4 SOX13 TEAD1 FOXA3 NR2F1 FEZF1 NR2F6 FOXA1 RTN1 GC14P059777 GC14M059744
GH14F060183 1 Ensembl ENCODE 13.5 -313.2 -313211 1.8 PKNOX1 FEZF1 ZNF121 ZNF143 ZNF263 TSHZ1 REST TBX21 MAFF PBX2 MAD2L1P1 LOC101927729 RTN1 PPM1A LOC101927702 C14orf39 GC14P060180 RPL17P2
GH14F060178 0.7 Ensembl ENCODE 12.7 -308.8 -308786 1.6 PKNOX1 ZNF76 SIN3A ARID4B RAD21 YY1 ZNF335 ZNF263 ZBTB11 JUNB PPM1A RTN1 LOC101927702 PCNX4 C14orf39 GC14P060180 RPL17P2
GH14F059677 0.5 ENCODE 12.4 +192.9 192906 1.3 RTN1 GC14M059672 GC14P059713
GH14F059918 0.4 ENCODE 11.2 -48.8 -48841 1.9 ETS1 GLIS2 SP3 SP5 NFYC REST SREBF1 MIER3 ATF4 RFX3 RTN1 CCDC175 ENSG00000261120 LRRC9
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around RTN1 on UCSC Golden Path with GeneCards custom track

Promoters for RTN1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000180464 366 1600 CTCF ZNF146 ZIC2 CTBP1 ZBTB48 PRDM10 ZNF600 ZBTB20 EZH2 EGR2

Genomic Location for RTN1 Gene

Chromosome:
14
Start:
59,595,976 bp from pter
End:
59,870,966 bp from pter
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).

    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

Protein Domains for RTN1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for RTN1 Gene

Graphical View of Domain Structure for InterPro Entry

Q16799

UniProtKB/Swiss-Prot:

RTN1_HUMAN :
  • Contains 1 reticulon domain.
Domain:
  • Contains 1 reticulon domain.
genes like me logo Genes that share domains with RTN1: view

No data available for Gene Families for RTN1 Gene

Function for RTN1 Gene

Molecular function for RTN1 Gene

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

Gene Ontology (GO) - Molecular Function for RTN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17684057
genes like me logo Genes that share ontologies with RTN1: view

Phenotypes for RTN1 Gene

genes like me logo Genes that share phenotypes with RTN1: view

Animal Model Products

miRNA for RTN1 Gene

miRTarBase miRNAs that target RTN1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , 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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RTN1 Gene COMPARTMENTS Subcellular localization image for RTN1 gene
Compartment Confidence
endoplasmic reticulum 5
nucleus 2
cytoskeleton 1
cytosol 1
golgi apparatus 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for RTN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030176 integral component of endoplasmic reticulum membrane TAS 8833145
genes like me logo Genes that share ontologies with RTN1: view

Pathways & Interactions for RTN1 Gene

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

Transcripts for RTN1 Gene

Unigene Clusters for RTN1 Gene

Reticulon 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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
ECgene alternative splicing isoforms for
RTN1

Expression for RTN1 Gene

mRNA expression in normal human tissues 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, PaxDb, MaxQB, and MOPED for RTN1 Gene



Protein tissue co-expression partners for RTN1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RTN1 Gene:

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.
genes like me logo Genes that share expression patterns with RTN1: view

Primer Products

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 34 35
  • 98.97 (n)
cow
(Bos Taurus)
Mammalia RTN1 34 35
  • 87.54 (n)
dog
(Canis familiaris)
Mammalia RTN1 34 35
  • 87.37 (n)
mouse
(Mus musculus)
Mammalia Rtn1 34 16 35
  • 83.42 (n)
rat
(Rattus norvegicus)
Mammalia Rtn1 34
  • 83.29 (n)
oppossum
(Monodelphis domestica)
Mammalia RTN1 35
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RTN1 35
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves RTN1 34 35
  • 67.8 (n)
lizard
(Anolis carolinensis)
Reptilia RTN1 35
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rtn1 34
  • 62.94 (n)
zebrafish
(Danio rerio)
Actinopterygii rtn1a 34 35
  • 54.32 (n)
rtn1b 35
  • 40 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Rtnl1 35
  • 25 (a)
ManyToMany
Rtnl2 35
  • 23 (a)
ManyToMany
CG42853 35
  • 16 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea ret-1 35
  • 5 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10170 35
  • 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)

Paralogs for RTN1 Gene

Paralogs for RTN1 Gene

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

genes like me logo Genes that share paralogs with RTN1: view

Variants for RTN1 Gene

Sequence variations from dbSNP and Humsavar for RTN1 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs1011161 -- 59,732,598(-) tgatc(C/T)gagag intron-variant
rs10131168 -- 59,715,747(+) CTTGA(A/G)CCTGG intron-variant
rs10131474 -- 59,712,557(+) ACATA(A/G)GAAGA intron-variant
rs10131621 -- 59,770,375(+) CTCTG(C/T)CTCAA intron-variant
rs10131804 -- 59,675,555(+) taaat(A/C)attta intron-variant

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)

Relevant External Links for RTN1 Gene

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

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

Disorders for RTN1 Gene

Relevant External Links for RTN1

Genetic Association Database (GAD)
RTN1
Human Genome Epidemiology (HuGE) Navigator
RTN1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RTN1

No disorders were found for RTN1 Gene.

No data available for MalaCards , 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 J.L. (Cell Tissue Res. 1998) 3 4 22 64
  2. Identification and characterization of TMEM33 as a reticulon-binding protein. (PMID: 25612671) Urade T. … Sakisaka T. (Kobe J Med Sci 2014) 3 4 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. Reticulon proteins: emerging players in neurodegenerative diseases. (PMID: 16505974) Yan R. … Zhou X. (Cell. Mol. Life Sci. 2006) 3 22 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for RTN1 Gene

Sources for RTN1 Gene

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