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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. Diseases associated with RTN1 include Hereditary Spastic Paraplegia. 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

Additional gene information for RTN1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies 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
GH14I059870 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 550.8 +0.5 465 1 CTCF MXI1 ZBTB6 SUZ12 ZNF449 SIN3A BMI1 ZIC2 ZNF335 CTBP1 RTN1 PCNX4 GC14P059856
GH14I059630 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 550.1 +240.4 240365 0.4 MXI1 L3MBTL2 SP2 HIC1 ZFHX2 GLIS2 POLR2A SCRT2 ZNF341 CTBP2 RTN1 MIR5586 GC14M059571
GH14I059918 Promoter/Enhancer 1.4 Ensembl ENCODE 11.2 -48.8 -48840 1.9 FOXA2 SIN3A ETS1 GLIS2 ZNF143 SP3 RXRA SP5 NFYC REST ENSG00000261120 LRRC9 RTN1 CCDC175
GH14I060720 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 6.6 -851.8 -851765 4.6 PKNOX1 CLOCK FOXA2 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B POLR2B GC14M060376 SIX4 TRMT5 MNAT1 SCOCP1 RTN1 PPM1A
GH14I060183 Enhancer 1.1 Ensembl ENCODE dbSUPER 13.5 -313.2 -313211 1.8 MEIS2 CTCF PKNOX1 RB1 RAD21 RFX5 ZNF335 ZNF143 SMC3 ATF7 RTN1 LOC101927702 PPM1A C14orf39 GC14P060180 RPL17P2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RTN1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RTN1 gene promoter:

Genomic Locations for RTN1 Gene

Genomic Locations for RTN1 Gene
chr14:59,595,976-59,870,966
(GRCh38/hg38)
Size:
274,991 bases
Orientation:
Minus strand
chr14:60,062,694-60,337,684
(GRCh37/hg19)

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

Gene Families for RTN1 Gene

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

Protein Domains for RTN1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for RTN1 Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot 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.

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 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

Clone 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
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
nucleus 2
plasma membrane 1
cytoskeleton 1
peroxisome 1
cytosol 1
golgi apparatus 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for RTN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA,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

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

Unigene Clusters for RTN1 Gene

Reticulon 1:
Representative Sequences:

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
ECgene alternative splicing isoforms for
RTN1

Expression for RTN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, 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.

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 33 34
  • 98.97 (n)
cow
(Bos Taurus)
Mammalia RTN1 33 34
  • 87.54 (n)
dog
(Canis familiaris)
Mammalia RTN1 33 34
  • 87.37 (n)
mouse
(Mus musculus)
Mammalia Rtn1 33 16 34
  • 83.42 (n)
rat
(Rattus norvegicus)
Mammalia Rtn1 33
  • 83.29 (n)
oppossum
(Monodelphis domestica)
Mammalia RTN1 34
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RTN1 34
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves RTN1 34 33
  • 67.8 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RTN1 34
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rtn1 33
  • 62.94 (n)
zebrafish
(Danio rerio)
Actinopterygii rtn1a 34 33
  • 54.32 (n)
OneToMany
rtn1b 34
  • 40 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Rtnl1 34
  • 25 (a)
ManyToMany
Rtnl2 34
  • 23 (a)
ManyToMany
CG42853 34
  • 16 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea ret-1 34
  • 5 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10170 34
  • 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 Variation AA Info Type
rs1000006785 -- 59,756,691(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000015672 -- 59,805,182(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000020589 -- 59,814,986(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000020971 -- 59,606,630(-) T/C genic_downstream_transcript_variant, intron_variant
rs1000027637 -- 59,833,759(-) G/T genic_upstream_transcript_variant, intron_variant

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

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

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

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

Disorders for RTN1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
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 22 58
  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 58
  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 44 58
  4. Reticulon proteins: emerging players in neurodegenerative diseases. (PMID: 16505974) Yan R … Zhou X (Cellular and molecular life sciences : CMLS 2006) 3 22 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for RTN1 Gene

Sources for RTN1 Gene

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