RTN1 (reticulon 1)

Gene

• Entrez ID: 6252
• Gene name: Reticulon 1
• Gene symbol: RTN1
• Synonyms (NCBI Gene): NSP
• Chromosome: 14
• Chromosome location: 14q23.1
• 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 specifi

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1321937	hsa-miR-147	CLIP-seq
MIRT1321938	hsa-miR-3140-3p	CLIP-seq
MIRT737878	hsa-miR-4711-5p	CLIP-seq
MIRT737878	hsa-miR-4711-5p	CLIP-seq
MIRT737878	hsa-miR-4711-5p	CLIP-seq
MIRT737878	hsa-miR-4711-5p	CLIP-seq
MIRT737878	hsa-miR-4711-5p	CLIP-seq
MIRT737878	hsa-miR-4711-5p	CLIP-seq
MIRT737878	hsa-miR-4711-5p	CLIP-seq
MIRT737878	hsa-miR-4711-5p	CLIP-seq
MIRT737878	hsa-miR-4711-5p	CLIP-seq
MIRT737878	hsa-miR-4711-5p	CLIP-seq
MIRT2458688	hsa-miR-138	CLIP-seq
MIRT2458689	hsa-miR-142-5p	CLIP-seq
MIRT2458690	hsa-miR-2054	CLIP-seq
MIRT2458691	hsa-miR-3143	CLIP-seq
MIRT2458692	hsa-miR-561	CLIP-seq
MIRT2465990	hsa-miR-548ac	CLIP-seq
MIRT2465991	hsa-miR-548ae	CLIP-seq
MIRT2465992	hsa-miR-548aj	CLIP-seq
MIRT2465993	hsa-miR-548am	CLIP-seq
MIRT2465994	hsa-miR-548d-3p	CLIP-seq
MIRT2465995	hsa-miR-548x	CLIP-seq
MIRT2465996	hsa-miR-548z	CLIP-seq
MIRT1321937	hsa-miR-147	CLIP-seq
MIRT1321938	hsa-miR-3140-3p	CLIP-seq
MIRT1321937	hsa-miR-147	CLIP-seq
MIRT1321938	hsa-miR-3140-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IDA	12873973
GO:0000139	Component	Golgi membrane	IEA
GO:0005515	Function	Protein binding	IPI	12873973, 15286784, 17684057, 17786215, 25416956, 25543119, 25612671, 32814053
GO:0005783	Component	Endoplasmic reticulum	IDA	12873973
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	17684057
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS	8833145
GO:0005794	Component	Golgi apparatus	IEA
GO:0007420	Process	Brain development	IBA
GO:0014069	Component	Postsynaptic density	IBA
GO:0016020	Component	Membrane	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0030182	Process	Neuron differentiation	IBA
GO:0030182	Process	Neuron differentiation	IEP	9560466
GO:0030425	Component	Dendrite	IEA
GO:0043005	Component	Neuron projection	IBA
GO:0043025	Component	Neuronal cell body	IEA
GO:0071787	Process	Endoplasmic reticulum tubular network formation	IBA
GO:1902430	Process	Negative regulation of amyloid-beta formation	IDA	15286784
GO:1902430	Process	Negative regulation of amyloid-beta formation	IEA
GO:1990809	Process	Endoplasmic reticulum tubular network membrane organization	IBA

Other IDs

• MIM: 600865
• HGNC: 10467
• e!Ensembl: ENSG00000139970

Protein

• UniProt ID: Q16799
• Protein name: Reticulon-1 (Neuroendocrine-specific protein)
• Protein function: Inhibits amyloid precursor protein processing, probably by blocking BACE1 activity.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02453	Reticulon	589 → 753	Reticulon	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in neural and neuroendocrine tissues and cell cultures derived therefrom. Expression of isoform RTN1-C is strongly correlated with neuronal differentiation. {ECO:0000269|PubMed:9560466}.
• Sequence:

  MAAPGDPQDELLPLAGPGSQWLRHRGEGENEAVTPKGATPAPQAGEPSPGLGARAREAAS
  REAGSGPARQSPVAMETASTGVAGVSSAMDHTFSTTSKDGEGSCYTSLISDICYPPQEDS
  TYFTGILQKENGHVTISESPEELGTPGPSLPDVPGIESRGLFSSDSGIEMTPAESTEVNK
  ILADPLDQMKAEAYKYIDITRPEEVKHQEQHHPELEDKDLDFKNKDTDISIKPEGVREPD
  KPAPVEGKIIKDHLLEESTFAPYIDDLSEEQRRAPQITTPVKITLTEIEPSVETTTQEKT
  PEKQDICLKPSPDTVPTVTVSEPEDDSPGSITPPSSGTEPSAAESQGKGSISEDELITAI
  KEAKGLSYETAENPRPVGQLADRPEVKARSGPPTIPSPLDHEASSAESGDSEIELVSEDP
  MAAEDALPSGYVSFGHVGGPPPSPASPSIQYSILREEREAELDSELIIESCDASSASEES
  PKREQDSPPMKPSALDAIREETGVRAEERAPSRRGLAEPGSFLDYPSTEPQPGPELPPGD
  GALEPETPMLPRKPEEDSSSNQSPAATKGPGPLGPGAPPPLLFLNKQKAIDLLYWRDIKQ
  TGIVFGSFLLLLFSLTQFSVVSVVAYLALAALSATISFRIYKSVLQAVQKTDEGHPFKAY
  LELEITLSQEQIQKYTDCLQFYVNSTLKELRRLFLVQDLVDSLKFAVLMWLLTYVGALFN
  GLTLLLMAVVSMFTLPVVYVKHQAQIDQYLGLVRTHINAVVAKIQAKIPGAKRHAE

• Sequence length: 776

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANOREXIA NERVOSA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	26404086		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	17427198		★☆☆☆☆ Found in Text Mining only
Cancer Pain	Cancer	Pubtator	24690158	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	8062278		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	31679961		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	26496126		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	26227493		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	26404086	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	9103247		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	26404086	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	26496126	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	26496126		★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	29784816		★☆☆☆☆ Found in Text Mining only
ESTROGEN RESISTANCE	Estrogen Resistance	BEFREE	17427198		★☆☆☆☆ Found in Text Mining only
Fibromuscular Dysplasia	Fibromuscular Dysplasia	BEFREE	29428400		★☆☆☆☆ Found in Text Mining only
FRONTOMETAPHYSEAL DYSPLASIA 1	Frontometaphyseal Dysplasia	BEFREE	29428400		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	20548289		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	20548289	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	21155030		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	26227493, 26496126, 26739891		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	26496126	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	26496126	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	26496126		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	8062278		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	30626913, 30718901		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	17427198		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of large intestine	Colorectal Neoplasms	BEFREE	9103247		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31172693		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Facioscapulohumeral	Facioscapulohumeral Muscular Dystrophy	BEFREE	29428400		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	CTD_human_DG	16214533		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	16915569, 28450698		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	30521940		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	26739891		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	31128604		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	26198764, 28991256, 30285260, 30626913		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	30626913		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	30626913	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Senile Plaques	Senile Plaques	BEFREE	28733667		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	8062278		★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	16602018		★☆☆☆☆ Found in Text Mining only