Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

RD3

contributors: mct/pgu - updated : 01-06-2021

HGNC name	RD3 regulator of GUCY2D
HGNC id	19689

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	LCA12 Leber congenital amaurosis, type 12
Location	1q32.3      Physical location : 211.649.863 - 211.666.259
Synonym name	chromosome 1 open reading frame 36
	protein RD3
Synonym symbol(s)	C1orf36

DNA

TYPE	functioning gene
STRUCTURE	16.40 kb     3 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

text	two transcripts encode the same protein

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_183059 3 - 4290 NP_898882 23 195 - 2003 12914764 NM_001164688 3 - 4287 NP_001158160 23 195 - 2003 12914764

EXPRESSION

Type	restricted

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 Visual eye retina       Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Visual cone photoreceptor Homo sapiens Visual rod photoreceptor Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES		basic
STRUCTURE

motifs/domains	an N-terminal mitochondrial targeting signal
	several consensus casein kinase II and protein kinase C phosphorylation sites
	one predicted sumoylation site
	putative coiled-coil domains at amino acids 22–54 and 115–141

HOMOLOGY

interspecies

ortholog to murine 3322402L07Rik

Homologene

FAMILY

CATEGORY

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,endosome
	intracellular,nucleus
text	plays an essential role in the exit of guanylate cyclase from the ER and its trafficking to photoreceptor cone outer segments (OSs)

basic FUNCTION	may be part of subnuclear protein complexes involved in diverse processes, such as transcription and splicing
	mediates the membrane trafficking of GUCY2D out of the ER of cells
	photoreceptor guanylate cyclase-binding protein required for the stable expression and membrane vesicle trafficking of GUCY2D and GUCY2F in photoreceptors
	crucial for guanylate cyclase expression and trafficking in photoreceptors
	chaperone trafficking protein, implicated in the stable expression of guanylate cyclase in photoreceptor cells
	essential for normal expression of retinal membrane guanylyl cyclase (GUCY2D) in photoreceptor cells, and blocks GUCY2D catalytic activity and stimulation by guanylyl cyclase-activating proteins (GCAPs)
	may play likely an important role in the normal functioning of epithelial cells limited in the CNS
	complex function of RD3 in photoreceptors, and RD3 - guanylate kinase interaction may also play a role in other cellular systems, while the GC - RD3 interaction is exclusive to photoreceptors

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	colocalizes and binds to GUCY2D and GUCY2F and plays a crucial role in their stable expression and membrane trafficking in rod and cone photoreceptors
	opposes the allosteric activation of the cyclase by GUCA1A but does not significantly change Ca(2+) sensitivity of the GUCA1A-dependent regulation
	GUCY2D, GUCY2F interaction with RD3 inhibits GC catalytic activity and promotes the exit of GUCY2D, GUCY2F from the endoplasmic reticulum and their trafficking to photoreceptor outer segments
	main GUCY2D-binding interface on RD3 required for the negative regulation of the cyclase localizes to the Lys(87)-Leu(122) region.

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

LCA12

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed neurosensorial visual retina provides a basis for developing therapeutic strategies for treating these retinal degenerative diseases

ANIMAL & CELL MODELS