ZNF513 Transcriptional regulator that plays a role in retinal development and maintenance. Defects in ZNF513 are the cause of retinitis pigmentosa type 58 (RP58). A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. Belongs to the krueppel C2H2-type zinc-finger protein family. 3 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: C2H2-type zinc finger protein
Chromosomal Location of Human Ortholog: 5|5 B1
Cellular Component:  nucleus
Molecular Function:  DNA binding; DNA-binding transcription factor activity; metal ion binding; nucleic acid binding; transcription regulatory region DNA binding
Biological Process:  regulation of transcription, DNA-templated; retina development in camera-type eye
Reference #:  Q6PD29 (UniProtKB)
Alt. Names/Synonyms: AW990386; D430028M17Rik; Zfp513; Zinc finger protein 513; ZN513; Znf513
Gene Symbols: Znf513
Molecular weight: 58,067 Da
Basal Isoelectric point: 7.5  Predict pI for various phosphorylation states
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Protein Structure Not Found.

Cross-references to other databases:  STRING  |  BioGPS  |  Pfam  |  Phospho.ELM  |  NetworKIN  |  UniProtKB  |  Entrez-Gene  |  Ensembl Gene