RTN3 - reticulon 3 Gene

Homo sapiens

Also known as HAP; ASYIP; NSPL2; NSPLII; RTN3-A1

Gene ID: 10313 | Gene type: protein coding

About RTN3

Cytogenetic location: 11q13.1 Genomic coordinates (GRCh38): 11:63,681,450-63,759,891 (from NCBI)

This gene has 14 transcripts (splice variants), 263 orthologues and 4 paralogues. Broad expression in brain (RPKM 157.4), fat (RPKM 54.4) and 23 other tissues.

Summary

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 Products(7)

mRNA	Protein	Name
NM_001265589.2	NP_001252518.1	reticulon-3 isoform e
NM_001265590.2	NP_001252519.1	reticulon-3 isoform f
NM_001265591.2	NP_001252520.1	reticulon-3 isoform g
NM_006054.4	NP_006045.1	reticulon-3 isoform a
NM_201428.3	NP_958831.1	reticulon-3 isoform b
NM_201429.2	NP_958832.1	reticulon-3 isoform c
NM_201430.3	NP_958833.1	reticulon-3 isoform d

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	15286784	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in endoplasmic reticulum tubular network formation	IDA IDA: Inferred from direct assay	25612671	GOA
involved in endoplasmic reticulum tubular network organization	IMP IMP: Inferred from mutant phenotype	18779370	GOA
involved in negative regulation of amyloid-beta formation	IDA IDA: Inferred from direct assay	15286784	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	15286784	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	15286784	GOA
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	24262037	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RTN3 Protein Structure

Reticulon

0
200
400
600
800
1032 a.a.

Protein Preferred Names

Protein Names

reticulon-3

ASY interacting protein

Related Diseases

Diseases

Alias

Hereditary Sensory And Autonomic Neuropathy Type 1

Hereditary Sensory And Autonomic Neuropathy Type I	Hereditary Sensory Neuropathy-Deafness-Dementia Syndrome
Hsan1e	Hsan1
Dnmt1-Related Dementia, Deafness, And Sensory Neuropathy	Hsn1e
Hsnie	Hereditary Sensory Neuropathy Type Ie
Hereditary Sensory Neuropathy-Sensorineural Hearing Loss-Dementia Syndrome	Hereditary Sensory And Autonomic Neuropathy Type Ie
Hereditary Sensory And Autonomic Neuropathy Type 1e	Hereditary Sensory Neuropathy With Hearing Loss And Dementia
Dnmt1-Complex Disorder	Hereditary Sensory And Autonomic Neuropathy Type 1 With Dementia And Hearing Loss
Hsn Ie	Hereditary Sensory Autonomic Neuropathy, Type 1
Hsan1- [Hereditary Sensory And Autonomic Neuropathy Type I]

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia	Hereditary Spastic Paraparesis
Strumpell-Lorrain Disease	Familial Spastic Paraparesis
Hsp	Spg
Strümpell-Lorrain Disease	Spastic Paraplegia, Hereditary
French Settlement Disease	Strumpell-Lorrain Syndrome
Fsp	Spastic Paraplegia, Familial
Spastic Paraplegia Hereditary	Spastic Paraplegia 3, Autosomal Dominant
Spastic Paraparesis	Hereditary Spastic Paralysis
Familial Spastic Paralysis	Hereditary Spastic Ataxia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12331	RTN3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	RTN3	RGD	RGD:620988
Mus musculus	RTN3	MGD	MGI:1339970
Macaca mulatta	RTN3	VGNC	VGNC:76945
Felis catus	RTN3	VGNC	VGNC:81946
Canis familiaris	RTN3	VGNC	VGNC:59052
Others	RTN3	NCBI

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