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FLASH GENE

Symbol

RUBCN

contributors: mct/shn - updated : 10-06-2016

HGNC name	KIAA0226
HGNC id	28991

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	SCAR15 spinocerebellar ataxia, autosomal recessive 15
Location	3q29      Physical location : -
Genatlas name	RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein
Synonym name	hypothetical protein LOC9711
	similar to D. melanogaster gene encoded in P1 clone DS00642
	beclin-1 associated RUN domain containing protein
	RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein
	RUBICON
	rundataxin
Synonym symbol(s)	KIAA0226, hCG_22771, RUBICON

DNA

TYPE	functioning gene
STRUCTURE	65.00 kb     20 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

Map	cen - D3S1311 - D3S3707 - KIAA0226 - D3S3550 -qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_014687 (transcript variant 2) 20 splicing 6732 NP_055502 108 972 - - NM_001145642 (transcript variant 1) 22 splicing 6903 NP_001139114 103 927 - -

EXPRESSION

Type

expressed in

(based on citations)

organ(s)

System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       lowly Homo sapiens Digestive intestine large intestine colon   lowly Homo sapiens   intestine small intestine     lowly Homo sapiens   liver       lowly Homo sapiens Endocrine pancreas       lowly Homo sapiens Lymphoid/Immune spleen       lowly Homo sapiens   thymus       lowly Homo sapiens Nervous brain       lowly Homo sapiens Reproductive female system placenta     lowly Homo sapiens   female system ovary     lowly Homo sapiens   male system prostate     lowly Homo sapiens   male system seminal vesicles     lowly Homo sapiens Respiratory lung       lowly Homo sapiens Urinary kidney       lowly Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal   lowly Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic leukocyte Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

RH domain

HOMOLOGY

interspecies

ortholog to 1700021K19Rik, Mus musculus

Homologene

FAMILY

CATEGORY

motor/contractile

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,endosome
	intracellular,cytoplasm,organelle,lysosome
text	localized at the endosome/lysosome

basic FUNCTION	negatively regulates both the autophagic and endocytic pathways (
	prevents endosome maturation through differential interactions with RAB7A and UVRAG
	serves as a previously unknown RAB7A effector to ensure the proper progression of the endocytic pathway
	key negative regulator in endosome maturation
	critical function in endocytic trafficking, which is to control the endosome maturation by regulating RAB7A and UVRAG
	RUBCN acts as a negative regulator for virus-triggered IFN signaling

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

cellular trafficking transport

PATHWAY

metabolism

signaling

a component	component of the PI3KC3 complex

INTERACTION

DNA

RNA

small molecule

protein	Rab7 and PI3-kinase (
	interacting with RAB7A, and UVRAG (GTP-bound RAB7A competes with UVRAG for RUBICON binding)
	Beclin 1-interacting protein
	RUBCN interacts with IRF3 and ultimately this interaction leads to inhibition of the dimerization of IRF3

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

SCAR15

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS