Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol ZNF513 contributors: mct - updated : 22-05-2009
HGNC name zinc finger protein 513
HGNC id 26498
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
Physical map
MAPRE3 2p23.3-p23.1 microtubule-associated protein, RP/EB family, member 3 FLJ20254 2p23.3 hypothetical protein FLJ20254 FLJ21839 2p23.3 hypothetical protein FLJ21839 EMILIN1 2p23.3-p23.2 elastin microfibril interfacer 1 KHK 2p23.3-p23.2 ketohexokinase (fructokinase) CGREF1 2p23.3 cell growth regulator with EF hand domain 1 ABHD1 2p23.3 abhydrolase domain containing 1 PREB 2p23 prolactin regulatory element binding MGC44505 2p23.3 hypothetical protein MGC44505 LOC391360 2 similar to class II basic helix-loop-helix protein TCF23 SLC5A6 2p23 solute carrier family 5 (sodium-dependent vitamin transporter), member 6 APR-3 2p23.3 solute carrier family 5 (sodium-dependent vitamin transporter), member 6 CAD 2p22-p21 carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase SLC30A3 2p23.3 solute carrier family 30 (zinc transporter), member 3 FLJ40417 2p23.3 gamma cysteine string protein RNF30 2p23.3 ring finger protein 30 UCN 2p23-p21 urocortin MPV17 2p23 MpV17 transgene, murine homolog, glomerulosclerosis GTF3C2 2p23.3 general transcription factor IIIC, polypeptide 2, beta 110kDa EIF2B4 2p23.3 eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa SNX17 2p23-p22 sorting nexin 17 ZNF513 2p23.3 zinc finger protein 513 PPM1G 2p33.3 protein phosphatase 1G (formerly 2C), magnesium-dependent, gamma isoform NRBP 2p23 nuclear receptor binding protein KCP3 SLB 2p23.3 selective LIM binding factor, rat homolog FRCP1 GCKR 2p23.3-p23.2 glucokinase (hexokinase 4) regulatory protein DKFZp434G118 ZNF512 2p23 zinc finger protein 512 FLJ13646 2p23.3 hypothetical protein FLJ13646 XAB1 2p23.3 XPA binding protein 1 STAF65(gamma) 2pter-p25.1 SPTF-associated factor 65 gamma SLC4A1AP 2p23.3 solute carrier family 4 (anion exchanger), member 1, adaptor protein
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
4 - 2148 58 541 - PMID: 15221005
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrineparathyroid   moderately
Nervousbrain   lowly
Reproductivefemale systemovary  moderately
 male systemtestis  moderately
Urinarybladder   lowly
Visualeyeretina  highly
cells
SystemCellPubmedSpeciesStageRna symbol
Blood/Hematopoieticleukocyte
Visualcone photoreceptor
Visualrod 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