Human Gene ZNF519 (ENST00000590202.3) from GENCODE V44
  Description: Homo sapiens zinc finger protein 519 (ZNF519), transcript variant 1, mRNA. (from RefSeq NM_145287)
Gencode Transcript: ENST00000590202.3
Gencode Gene: ENSG00000175322.12
Transcript (Including UTRs)
   Position: hg38 chr18:14,099,938-14,132,435 Size: 32,498 Total Exon Count: 3 Strand: -
Coding Region
   Position: hg38 chr18:14,104,917-14,132,277 Size: 27,361 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr18:14,099,938-14,132,435)mRNA (may differ from genome)Protein (540 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
PubMedReactomeUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ZN519_HUMAN
DESCRIPTION: RecName: Full=Zinc finger protein 519;
FUNCTION: May be involved in transcriptional regulation.
SUBCELLULAR LOCATION: Nucleus (Probable).
SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein family.
SIMILARITY: Contains 10 C2H2-type zinc fingers.
SIMILARITY: Contains 1 KRAB domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ZNF519
Diseases sorted by gene-association score: anonychia congenita (13), nail disease (10)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 2.88 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 32.40 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -56.50158-0.358 Picture PostScript Text
3' UTR -1201.524979-0.241 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001909 - Krueppel-associated_box
IPR007087 - Znf_C2H2
IPR015880 - Znf_C2H2-like
IPR013087 - Znf_C2H2/integrase_DNA-bd

Pfam Domains:
PF01352 - KRAB box

ModBase Predicted Comparative 3D Structure on Q8TB69
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGI     
Protein Sequence     
Alignment     

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0003676 nucleic acid binding
GO:0003677 DNA binding
GO:0046872 metal ion binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter

Cellular Component:
GO:0005622 intracellular
GO:0005634 nucleus


-  Descriptions from all associated GenBank mRNAs
  BC037787 - Homo sapiens zinc finger protein 519, mRNA (cDNA clone IMAGE:4792135).
AK096748 - Homo sapiens cDNA FLJ39429 fis, clone PROST2002101.
AK124851 - Homo sapiens cDNA FLJ42861 fis, clone BRHIP2012545.
BC010705 - Homo sapiens zinc finger protein 519, mRNA (cDNA clone IMAGE:3872023), with apparent retained intron.
AB209417 - Homo sapiens mRNA for zinc finger protein 519 variant protein.
JD105911 - Sequence 86935 from Patent EP1572962.
JD517603 - Sequence 498627 from Patent EP1572962.
JD428833 - Sequence 409857 from Patent EP1572962.
JD249816 - Sequence 230840 from Patent EP1572962.
AK094128 - Homo sapiens cDNA FLJ36809 fis, clone ASTRO2000801, moderately similar to ZINC FINGER PROTEIN 85.
JD045978 - Sequence 27002 from Patent EP1572962.
BC024227 - Homo sapiens zinc finger protein 519, mRNA (cDNA clone MGC:27166 IMAGE:4806717), complete cds.
JD347425 - Sequence 328449 from Patent EP1572962.
JD041796 - Sequence 22820 from Patent EP1572962.
JD129998 - Sequence 111022 from Patent EP1572962.
KJ900351 - Synthetic construct Homo sapiens clone ccsbBroadEn_09745 ZNF519 gene, encodes complete protein.
EU446585 - Synthetic construct Homo sapiens clone IMAGE:100070256; IMAGE:100011794; FLH258730.01L zinc finger protein 519 (ZNF519) gene, encodes complete protein.
JD314878 - Sequence 295902 from Patent EP1572962.
JD314877 - Sequence 295901 from Patent EP1572962.
JD314879 - Sequence 295903 from Patent EP1572962.
JD047452 - Sequence 28476 from Patent EP1572962.
JD047453 - Sequence 28477 from Patent EP1572962.
CU692892 - Synthetic construct Homo sapiens gateway clone IMAGE:100022299 5' read ZNF519 mRNA.
JD314878 - Sequence 295902 from Patent EP1572962.
JD314877 - Sequence 295901 from Patent EP1572962.
JD314879 - Sequence 295903 from Patent EP1572962.
JD516749 - Sequence 497773 from Patent EP1572962.
JD133734 - Sequence 114758 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q8TB69 (Reactome details) participates in the following event(s):

R-HSA-975040 KRAB-ZNF / KAP Interaction
R-HSA-212436 Generic Transcription Pathway
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000590202.1, ENST00000590202.2, NM_145287, Q8TB69, uc002kst.1, uc002kst.2, uc002kst.3, uc002kst.4, ZN519_HUMAN
UCSC ID: ENST00000590202.3
RefSeq Accession: NM_145287
Protein: Q8TB69 (aka ZN519_HUMAN or Z519_HUMAN)
CCDS: CCDS32797.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.