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FLASH GENE

Symbol

RP1

contributors: npt/shn - updated : 01-09-2010

HGNC name	retinitis pigmentosa 1 (autosomal dominant)
HGNC id	10263

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	14.80 kb     4 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - D17S843 - D8S1737 - RP1 RP1 - D8S2332 - D8S1828 - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_006269 4 - 7100 NP_006260 - 2156 connecting cilia of photoreceptor cells Liu et al, 2002

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     specific

cells

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

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	doublecortin-like (DC) domain (two tandemly repeated 80 amino acid regions at the N terminal region) constituting novel microtubule-binding modules
	one putative transmembrane segment
	a leucine zipper motif

HOMOLOGY

interspecies	ortholog to Rp1, Mus musculus
	ortholog to Rp1, Rattus norvegicus
	ortholog to RP1, Pan troglodytes

intraspecies

homolog to some homology with double cortin in the N region

Homologene

FAMILY

CATEGORY

transcription factor , signaling neurotransmitter

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytoskeleton,microtubule
text	connecting cilia of the photoreceptor

basic FUNCTION	playing a role in the differentiation of photoreceptor cells and participating in transport of protein between the inner and outer segments of photoreceptors or in maintenance of cilial structure (Liu et al, 2002)
	doublecortin-containing microtubule associated protein, having has an important but unknown role in photoreceptor biology

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

signal transduction , sensory transduction/vision

a component

INTERACTION

DNA

RNA

small molecule

protein	interacting with JNK signaling cascades (MAPK8, MAPK9, MAPK10, MAP2, MAP2K4, JUN), and playing integral roles in photoreceptor development and maintenance
	C-terminal region of the APC protein and tubulin (Juwana et al, 1999)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

RP1

related resource

Retinal Information Network

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	disruption of Rp1 in mice retina lead to specific alterations of gene expression in the c-Jun N-terminal kinase
	signaling cascades (Liu et al, 2005)