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FLASH GENE

Symbol

RUFY3

contributors: mct - updated : 22-12-2012

HGNC name	RUN and FYVE domain containing 3
HGNC id	30285

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	4q13.3      Physical location : 71.570.653 - 71.674.335
Synonym name	single axon-related 1
	rap2 interacting protein x
Synonym symbol(s)	KIAA0871, RIPX, RPIPX, SINGAR1

DNA

TYPE	functioning gene
STRUCTURE	103.68 kb     13 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001130709 12 - 1822 NP_001124181 - 506 - 2007 17439943 NM_001037442 18 - 4425 NP_001032519 - 620 - 2007 17439943 NM_014961 13 - 4282 NP_055776 - 459 - 2007 17439943

EXPRESSION

Type

widely

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 Digestive liver       lowly Endocrine neuroendocrine pituitary     highly Nervous brain limbic system hippocampus   predominantly   nerve       highly Reproductive female system ovary     lowly   male system testis     lowly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal     Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal RUN (RPIP8, UNC-14, and NESCA) domain
	two coiled-coil domains
	C-terminal FYVE domain 5

secondary structure

RUN domain comprises eight anti-parallel alpha-helices, which form an extensive hydrophobic core, followed by an extended segment (16928684)

HOMOLOGY

intraspecies

homolog to RUNDC3A

Homologene

FAMILY

CATEGORY

unknown/unspecified

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,endosome
	intracellular,cytoplasm,cytosolic,vesicle
text	localized in enlarged vesicles with the active GTP-bound form of RAB5A, where RAB5A(Q79L) sequester RUFY3
	localized predominantly to endosomes

basic FUNCTION

ensures the robustness of neuronal polarity by suppressing formation of surplus axons

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	interacting with KIAA1598 (shootin 1)
	specific effector of RAP2A GTPase
	interacting with RAB5A (C- terminal region of RUFY3 was necessary for this interaction)
	RUFY3 binding with STAU2

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   not affect the formation or elongation of axons during normal polarization processes but inhibited the formation of surplus axons induced by shoootin 1 overexpression

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS