RUBCN - rubicon autophagy regulator Gene

Homo sapiens

Also known as SCAR15; RUBICON; KIAA0226

Gene ID: 9711 | Gene type: protein coding

About RUBCN

Cytogenetic location: 3q29 Genomic coordinates (GRCh38): 3:197,668,867-197,749,820 (from NCBI)

This gene has 10 transcripts (splice variants), 133 orthologues, 4 paralogues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 7.0), brain (RPKM 6.7) and 25 other tissues.

Summary

The protein encoded by this gene is a negative regulator of Autophagy and endocytic trafficking and controls endosome maturation. This protein contains two conserved domains, an N-terminal RUN domain and a C-terminal DUF4206 domain. The RUN domain is involved in Ras-like GTPase signaling, and the DUF4206 domain contains a diacylglycerol (DAG) binding-like motif. Mutation in this gene results in deletion of the DAG binding-like motif and causes a recessive ataxia. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Apr 2014]

RUBCN Products(3)

mRNA	Protein	Name
NM_001145642.5	NP_001139114.1	run domain Beclin-1-interacting and cysteine-rich domain-containing protein isoform 1
NM_001346873.2	NP_001333802.1	run domain Beclin-1-interacting and cysteine-rich domain-containing protein isoform 3
NM_014687.4	NP_055502.1	run domain Beclin-1-interacting and cysteine-rich domain-containing protein isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables phosphatidylinositol 3-kinase inhibitor activity	IDA IDA: Inferred from direct assay	21062745	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	19270696	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in negative regulation of autophagosome maturation	IMP IMP: Inferred from mutant phenotype	21062745	GOA
involved in negative regulation of autophagy	IMP IMP: Inferred from mutant phenotype	19270696	GOA
involved in negative regulation of endocytosis	IMP IMP: Inferred from mutant phenotype	19270696	GOA
involved in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA IDA: Inferred from direct assay	21062745	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
NOT colocalizes with Golgi apparatus	IDA IDA: Inferred from direct assay	19270696	GOA
located in early endosome	IDA IDA: Inferred from direct assay	19270696	GOA
located in late endosome	IDA IDA: Inferred from direct assay	19270696	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

RUBCN Protein Structure

RUN

zf-RING_9

0
200
400
600
800
972 a.a.

Protein Preferred Names

Protein Names

run domain Beclin-1-interacting and cysteine-rich domain-containing protein

RUN and cysteine rich domain containing beclin 1 interacting protein

Related Diseases

Diseases

Alias

Spinocerebellar Ataxia, Autosomal Recessive 15

Autosomal Recessive Spinocerebellar Ataxia 15	SCAR15
Salih Ataxia	Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Rubcn Deficiency
Autosomal Recessive Spinocerebellar Ataxia Type 15	Spinocerebellar Ataxia, Autosomal Recessive, 15
Ataxia, Spinocerebellar, Autosomal Recessive, Type 15

Hypotonia

Spinocerebellar Ataxia, Autosomal Recessive 22

SCAR22	Autosomal Recessive Spinocerebellar Ataxia 22
Spinocerebellar Ataxia, Autosomal Recessive, 22	Ataxia, Spinocerebellar, Autosomal Recessive, Type 22

Spinocerebellar Ataxia, Autosomal Recessive 27

SCAR27	Autosomal Recessive Spinocerebellar Ataxia 27
Spinocerebellar Ataxia, Autosomal Recessive, 27

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-RS12343	RUBCN Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	RUBCN	VGNC	VGNC:64816
Mus musculus	RUBCN	MGD	MGI:1915160
Rattus norvegicus	RUBCN	RGD	RGD:1305422
Canis familiaris	RUBCN	VGNC	VGNC:45801
Bos taurus	RUBCN	VGNC	VGNC:34212

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