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FLASH GENE

Symbol

RP9

contributors: mct - updated : 02-07-2014

HGNC name	retinitis pigmentosa 9 (autosomal dominant)
HGNC id	10288

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	RP9 retinitis pigmentosa 9, type II
Location	7p14.3      Physical location : 33.134.411 - 33.149.002
Synonym symbol(s)	PAP-1

DNA

TYPE	functioning gene
STRUCTURE	14.00 kb     7 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_203288 6 - 1184 NP_976033 - 221 - 2005 15652350

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         Lymphoid/Immune lymph node         Reproductive male system prostate       Respiratory lung         Urinary kidney         Visual eye retina

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	nuclear localization signal (NLS)
	positively charged domain at the C terminus

HOMOLOGY

interspecies	ortholog to murine Rp9
	homolog to murine Pap1

Homologene

FAMILY

CATEGORY

regulatory , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
text	coloicalizing in nuclear speckles with splicing factors SRSF2, U2AB1

basic FUNCTION

having a role in pre-mRNA splicing

CELLULAR PROCESS

nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

text	control of the transcription

PATHWAY

metabolism

signaling

sensory transduction/vision

a component

associated with PRPRP as a component of the tri-snRNP U4/U5/U6 complex, one form of spliceosome

INTERACTION

DNA

RNA

small molecule

protein	target of the Pim-1 kinase (PIM1)
	interacting with the splicing factor SFRS2 directly with another splicing factor, U2AF1
	CIR1 is a RP9 binding protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

RP9

related resource

Retinal Information Network

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS