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This gene belongs to the reticulon family of highly conserved genes that are preferentially expressed in neuroendocrine tissues. This family of proteins interact with, and modulate the activity of beta-amyloid converting enzyme 1 (BACE1), and the production of amyloid-beta. An increase in the expression of any reticulon protein substantially reduces the production of amyloid-beta, suggesting that reticulon proteins are negative modulators of BACE1 in cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene, and pseudogenes of this gene are located on chromosomes 4 and 12. [provided by RefSeq, May 2012]
RTN3 (Reticulon 3) is a Protein Coding gene. Diseases associated with RTN3 include Extraskeletal Chondroma and Hereditary Sensory And Autonomic Neuropathy Type 1. Among its related pathways are Protein-protein interactions at synapses and SALM protein interactions at the synapses. An important paralog of this gene is RTN4.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 15286784 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | IEA | -- |
GO:0005615 | extracellular space | TAS | 10331947 |
GO:0005783 | endoplasmic reticulum | IEA,IDA | 15286784 |
GO:0005789 | endoplasmic reticulum membrane | IEA,IDA | 24262037 |
GO:0005794 | Golgi apparatus | IEA,IDA | 15286784 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Pathways of neurodegeneration - multiple diseases | ||
2 | Transmission across Chemical Synapses |
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3 | Protein-protein interactions at synapses | ||
4 | SALM protein interactions at the synapses |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006915 | apoptotic process | IEA | -- |
GO:0016032 | viral process | IEA | -- |
GO:0016192 | vesicle-mediated transport | IEA | -- |
GO:0071786 | endoplasmic reticulum tubular network organization | IMP | 18779370 |
GO:0071787 | endoplasmic reticulum tubular network formation | IDA | 25612671 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | · | 4c | · | 4d | · | 4e | · | 4f | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7a | · | 7b | ^ | 8a | · | 8b | · | 8c | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | · | 11c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | - | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | RTN3 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Rtn3 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Rtn3 30 |
|
||
Cow (Bos Taurus) |
Mammalia | RTN3 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | RTN3 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | RTN3 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | RTN3 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | RTN3 31 |
|
OneToOne | |
African clawed frog (Xenopus laevis) |
Amphibia | Xl.19053 30 |
|
||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | Str.1940 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | rtn3 31 31 |
|
OneToMany | |
zgc56439 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | Rtnl2 31 |
|
ManyToMany | |
Rtnl1 31 |
|
ManyToMany | |||
CG42853 31 |
|
ManyToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | ret-1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.10170 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs11551949 | Benign: not provided | 63,681,666(+) |
C/T NM_001265589.2(RTN3):c.30C>T (p.Ser10=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS | |
rs116807490 | Benign: not provided | 63,720,310(+) |
C/T NM_001265589.2(RTN3):c.1808C>T (p.Pro603Leu) |
MISSENSE_VARIANT,INTRON | |
rs75523067 | Benign: not provided | 63,704,885(+) |
A/C NM_001265589.2(RTN3):c.177A>C (p.Val59=) |
SYNONYMOUS_VARIANT,INTRON | |
rs11551944 | - |
p.Ala6Glu |
|||
rs7936660 | - |
p.Asp501His |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2673702 | CNV | deletion | 23128226 |
esv3626650 | CNV | loss | 21293372 |
esv3626651 | CNV | loss | 21293372 |
nsv1145539 | CNV | deletion | 24896259 |
nsv555180 | CNV | loss | 21841781 |
nsv825940 | CNV | loss | 20364138 |
nsv832183 | CNV | loss | 17160897 |
nsv975941 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
extraskeletal chondroma |
|
|
hereditary sensory and autonomic neuropathy type 1 |
|
|