Human Gene RTN4 (uc002rye.3) Description and Page Index
Description: Homo sapiens reticulon 4 (RTN4), transcript variant 1, mRNA. RefSeq Summary (NM_020532): 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. The product of this gene is a potent neurite outgrowth inhibitor which may also help block the regeneration of the central nervous system in higher vertebrates. Alternatively spliced transcript variants derived both from differential splicing and differential promoter usage and encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chr2:55,199,327-55,277,734 Size: 78,408 Total Exon Count: 9 Strand: - Coding Region Position: hg19 chr2:55,200,292-55,277,436 Size: 77,145 Coding Exon Count: 9
ID:RTN4_HUMAN DESCRIPTION: RecName: Full=Reticulon-4; AltName: Full=Foocen; AltName: Full=Neurite outgrowth inhibitor; Short=Nogo protein; AltName: Full=Neuroendocrine-specific protein; Short=NSP; AltName: Full=Neuroendocrine-specific protein C homolog; AltName: Full=RTN-x; AltName: Full=Reticulon-5; FUNCTION: Developmental neurite growth regulatory factor with a role as a negative regulator of axon-axon adhesion and growth, and as a facilitator of neurite branching. Regulates neurite fasciculation, branching and extension in the developing nervous system. Involved in down-regulation of growth, stabilization of wiring and restriction of plasticity in the adult CNS. Regulates the radial migration of cortical neurons via an RTN4R-LINGO1 containing receptor complex (By similarity). Isoform 2 reduces the anti-apoptotic activity of Bcl-xl and Bcl-2. This is likely consecutive to their change in subcellular location, from the mitochondria to the endoplasmic reticulum, after binding and sequestration. Isoform 2 and isoform 3 inhibit BACE1 activity and amyloid precursor protein processing. SUBUNIT: Binds to RTN4R. Interacts with Bcl-xl and Bcl-2. Isoform 2 binds to NGBR and RTN3. Isoform 2 and isoform 3 interact with BACE1 and BACE2. Interacts with RTN4IP1. Interacts with ATL1. INTERACTION: Q8WXF7:ATL1; NbExp=2; IntAct=EBI-715972, EBI-2410266; SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein. Note=Anchored to the membrane of the endoplasmic reticulum through 2 putative transmembrane domains. TISSUE SPECIFICITY: Isoform 1 is specifically expressed in brain and testis and weakly in heart and skeletal muscle. Isoform 2 is widely expressed except for the liver. Isoform 3 is expressed in brain, skeletal muscle and adipocytes. Isoform 4 is testis- specific. DOMAIN: Three regions, residues 59-172, 544-725 and the loop 66 amino acids, between the two transmembrane domains, known as Nogo- 66 loop, appear to be responsible for the inhibitory effect on neurite outgrowth and the spreading of neurons. This Nogo-66 loop, mediates also the binding of RTN4 to its receptor (By similarity). SIMILARITY: Contains 1 reticulon domain. SEQUENCE CAUTION: Sequence=AAD39920.1; Type=Frameshift; Positions=1149, 1156; Sequence=AAG43160.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAG43160.1; Type=Frameshift; Positions=684, 700; Sequence=BAA74909.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; WEB RESOURCE: Name=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=R&genename=RTN4+%40+NOGO"; WEB RESOURCE: Name=Protein Spotlight; Note=Nerve regrowth: nipped by a no-go - Issue 69 of April 2006; URL="http://web.expasy.org/spotlight/back_issues/sptlt069.shtml"; WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/RTN4ID42182ch2p16.html";
Genetic Association Studies of Complex Diseases and Disorders
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9NQC3
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.