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FLASH GENE

Symbol

ZNF513

contributors: mct - updated : 22-05-2009

HGNC name	zinc finger protein 513
HGNC id	26498

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ARRP20 retinitis pigmentosa autosomal recessive, 20
Location	2p23.3      Physical location : 27.600.101 - 27.603.593
Synonym symbol(s)	FLJ32203, HMFT0656

DNA

TYPE	functioning gene
STRUCTURE	3.49 kb     4 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_144631 4 - 2148 NP_653232 58 541 - PMID: 15221005

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 Endocrine parathyroid       moderately Nervous brain       lowly Reproductive female system ovary     moderately   male system testis     moderately Urinary bladder       lowly Visual eye retina     highly

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic leukocyte Visual cone photoreceptor Visual rod photoreceptor

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

eight C2H2-type zinc fingers

HOMOLOGY

interspecies

ortholog to murine Zfp513

Homologene

FAMILY

krueppel C2H2-type zinc-finger protein family

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	involved in transcription regulation
	plays a key role in the regulation of photoreceptor-specific genes in retinal development and photoreceptor maintenance
	important role not only for eye and retinal development but also for maintenance of the adult retina
	possible role for ZNF513 as a transcriptional regulator
	role in eye development that is potentially mediated through its interaction with the PAX6 promoter

CELLULAR PROCESS

nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

binding

RNA

small molecule	metal binding,
	Zn2+

protein

binds to the PAX6, Sp4, ARR3, RBP3, and photoreceptor opsin promoters

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

ARRP20

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS