Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6252
Gene name Gene Name - the full gene name approved by the HGNC.
Reticulon 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RTN1
Synonyms (NCBI Gene) Gene synonyms aliases
NSP
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q23.1
Summary Summary of gene provided in NCBI Entrez 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 specifi
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600865 10467 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
GLTLLLMAVVSMFTLPVVYVKHQAQIDQYLGLV
RTHINAVVAKIQAKIPGAKRHAE
Sequence length 776
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Insomnia Insomnia N/A N/A GWAS
Schizophrenia Schizophrenia N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Cancer Pain Associate 24690158
Colonic Neoplasms Associate 26404086
Colorectal Neoplasms Associate 26404086
Diabetes Mellitus Type 2 Associate 26496126
Gastrointestinal Stromal Tumors Associate 20548289
Kidney Diseases Associate 26496126
Kidney Failure Chronic Associate 26496126
Lymphoma Large B Cell Diffuse Associate 34702929
Mental Disorders Associate 30626913
Neoplasms Inhibit 20548289