Seroatlas · Human Serome Atlas

ZNF513

Zinc finger protein 513

Also known as: FLJ32203, RP58, Zfp513, ZN513_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q8N8E2
Gene: ZNF513
Ensembl: ENSG00000163795
Chromosome: 2
Canonical length: 541 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

OverviewNCBI Gene

The protein encoded by this gene is a possible transcriptional regulator involved in retinal development. Defects in this gene can be a cause of autosomal-recessive retinitis pigmentosa. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]

Canonical amino-acid sequenceUniProt

541 residues, UniProt reviewed canonical sequence.

>Q8N8E2|ZNF513
     1  MPRRKQSHPQ PVKCEGVKVD TEDSLDEGPG ALVLESDLLL GQDLEFEEEE EEEEGDGNSD
    61  QLMGFERDSE GDSLGARPGL PYGLSDDESG GGRALSAESE VEEPARGPGE ARGERPGPAC
   121  QLCGGPTGEG PCCGAGGPGG GPLLPPRLLY SCRLCTFVSH YSSHLKRHMQ THSGEKPFRC
   181  GRCPYASAQL VNLTRHTRTH TGEKPYRCPH CPFACSSLGN LRRHQRTHAG PPTPPCPTCG
   241  FRCCTPRPAR PPSPTEQEGA VPRRPEDALL LPDLSLHVPP GGASFLPDCG QLRGEGEGLC
   301  GTGSEPLPEL LFPWTCRGCG QELEEGEGSR LGAAMCGRCM RGEAGGGASG GPQGPSDKGF
   361  ACSLCPFATH YPNHLARHMK THSGEKPFRC ARCPYASAHL DNLKRHQRVH TGEKPYKCPL
   421  CPYACGNLAN LKRHGRIHSG DKPFRCSLCN YSCNQSMNLK RHMLRHTGEK PFRCATCAYT
   481  TGHWDNYKRH QKVHGHGGAG GPGLSASEGW APPHSPPSVL SSRGPPALGT AGSRAVHTDS
   541  S

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ZNF513 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.57
Highest tissue expression: 37 nTPM

Expression across tissuesHPA

Tissue

liver: 37 nTPM
testis: 34 nTPM
pituitary gland: 29 nTPM
spleen: 26 nTPM
kidney: 25 nTPM
prostate: 24 nTPM

Single-cell type

early spermatids: 49 nCPM
esophageal apical cells: 26 nCPM
syncytiotrophoblasts: 21 nCPM
foveolar cells: 20 nCPM
late primary spermatocytes: 20 nCPM
colonocytes: 17 nCPM

Immune cell

basophil: 1.2 nTPM
eosinophil: 1 nTPM
intermediate monocyte: 1 nTPM
neutrophil: 0.8 nTPM
myeloid DC: 0.7 nTPM
plasmacytoid DC: 0.7 nTPM

Brain region

cerebellum: 22 nTPM
thalamus: 21 nTPM
cerebral cortex: 19 nTPM
amygdala: 19 nTPM
medulla oblongata: 18 nTPM
midbrain: 18 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ZNF513.

Disease | AllUniProt

Conditions ZNF513 is implicated in, by any mechanism.

Retinitis pigmentosa 58 (RP58) MIM:613617

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 506 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Retinitis pigmentosa 58
Retinal dystrophy

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.41
gnomAD pLI: 0.82
gnomAD missense Z: 0.53
DepMap mean gene effect: -0.09
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

nucleus

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ZNF513 as an antibody target. Whether an autoantibody or antibody against ZNF513 could matter depends on whether native ZNF513 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ZNF513 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label ZNF513 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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