Human Gene ZNF480 (ENST00000595962.6) from GENCODE V44
  Description: Homo sapiens zinc finger protein 480 (ZNF480), transcript variant 1, mRNA. (from RefSeq NM_144684)
Gencode Transcript: ENST00000595962.6
Gencode Gene: ENSG00000198464.14
Transcript (Including UTRs)
   Position: hg38 chr19:52,297,169-52,325,922 Size: 28,754 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg38 chr19:52,300,413-52,322,858 Size: 22,446 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray 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 (chr19:52,297,169-52,325,922)mRNA (may differ from genome)Protein (535 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMGIneXtProtOMIM
PubMedReactomeUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ZN480_HUMAN
DESCRIPTION: RecName: Full=Zinc finger protein 480;
FUNCTION: Involved in transcriptional regulation as an activator.
SUBCELLULAR LOCATION: Nucleus.
TISSUE SPECIFICITY: Expressed in fetal heart, heart, skeletal muscle, pancreas and placenta.
DEVELOPMENTAL STAGE: Expressed in heart as early as the 24th week of gestation.
SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein family.
SIMILARITY: Contains 12 C2H2-type zinc fingers.
SIMILARITY: Contains 1 KRAB domain.
CAUTION: It is uncertain whether Met-1 or Met-20 is the initiator. A 'GT' insertion (rs59214675) allows to extend the sequence in the N-terminus. The majority of mRNAs do not have this insertion and the corresponding protein sequences start at Met-20.

-  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


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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 4.80 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 123.47 RPKM



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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -24.6074-0.332 Picture PostScript Text
3' UTR -622.203064-0.203 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 Q8WV37
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 BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  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: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
GO:0005654 nucleoplasm
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  BC007056 - Homo sapiens zinc finger protein 480, mRNA (cDNA clone IMAGE:3828896), partial cds.
BC054018 - Homo sapiens zinc finger protein 480, mRNA (cDNA clone IMAGE:6736978), partial cds.
AK096559 - Homo sapiens cDNA FLJ39240 fis, clone OCBBF2008041, moderately similar to ZINC FINGER PROTEIN 43.
AK303271 - Homo sapiens cDNA FLJ55942 complete cds, highly similar to Zinc finger protein 480.
AK096442 - Homo sapiens cDNA FLJ39123 fis, clone NTONG2007020, moderately similar to ZINC FINGER PROTEIN 83.
AX721138 - Sequence 98 from Patent WO0220754.
AL832560 - Homo sapiens mRNA; cDNA DKFZp547F0918 (from clone DKFZp547F0918).
BC065503 - Homo sapiens zinc finger protein 480, mRNA (cDNA clone IMAGE:4521442), partial cds.
AY512662 - Homo sapiens zinc finger protein 480 (ZNF480) mRNA, complete cds.
BC018783 - Homo sapiens zinc finger protein 480, mRNA (cDNA clone MGC:32104 IMAGE:4873910), complete cds.
JD433668 - Sequence 414692 from Patent EP1572962.
JD330633 - Sequence 311657 from Patent EP1572962.
EU176657 - Synthetic construct Homo sapiens clone IMAGE:100011450; FLH181639.01L; RZPDo839F11254D zinc finger protein 480 (ZNF480) gene, encodes complete protein.
DQ891749 - Synthetic construct clone IMAGE:100004379; FLH181640.01X; RZPDo839F07136D zinc finger protein 480 (ZNF480) gene, encodes complete protein.
JD314878 - Sequence 295902 from Patent EP1572962.
AX721129 - Sequence 89 from Patent WO0220754.
JD314878 - Sequence 295902 from Patent EP1572962.
JD314870 - Sequence 295894 from Patent EP1572962.
JD314882 - Sequence 295906 from Patent EP1572962.
JD047389 - Sequence 28413 from Patent EP1572962.
JD314878 - Sequence 295902 from Patent EP1572962.
JD045584 - Sequence 26608 from Patent EP1572962.
JD053942 - Sequence 34966 from Patent EP1572962.
AK091395 - Homo sapiens cDNA FLJ34076 fis, clone FCBBF3003475.
JD052850 - Sequence 33874 from Patent EP1572962.
JD274137 - Sequence 255161 from Patent EP1572962.
JD368931 - Sequence 349955 from Patent EP1572962.
JD552513 - Sequence 533537 from Patent EP1572962.
JD067002 - Sequence 48026 from Patent EP1572962.
JD524425 - Sequence 505449 from Patent EP1572962.
JD316014 - Sequence 297038 from Patent EP1572962.
JD086708 - Sequence 67732 from Patent EP1572962.
JD315919 - Sequence 296943 from Patent EP1572962.
JD289742 - Sequence 270766 from Patent EP1572962.
JD056521 - Sequence 37545 from Patent EP1572962.
JD330573 - Sequence 311597 from Patent EP1572962.
JD131256 - Sequence 112280 from Patent EP1572962.
JD539728 - Sequence 520752 from Patent EP1572962.
JD164885 - Sequence 145909 from Patent EP1572962.
JD245291 - Sequence 226315 from Patent EP1572962.
JD048603 - Sequence 29627 from Patent EP1572962.
JD075559 - Sequence 56583 from Patent EP1572962.
JD167021 - Sequence 148045 from Patent EP1572962.
JD298248 - Sequence 279272 from Patent EP1572962.
JD110376 - Sequence 91400 from Patent EP1572962.
JD314166 - Sequence 295190 from Patent EP1572962.
JD305733 - Sequence 286757 from Patent EP1572962.
JD285255 - Sequence 266279 from Patent EP1572962.
JD052832 - Sequence 33856 from Patent EP1572962.
JD408672 - Sequence 389696 from Patent EP1572962.
JD218613 - Sequence 199637 from Patent EP1572962.
JD213572 - Sequence 194596 from Patent EP1572962.
JD344783 - Sequence 325807 from Patent EP1572962.
JD354670 - Sequence 335694 from Patent EP1572962.
JD557960 - Sequence 538984 from Patent EP1572962.

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

Protein Q8WV37 (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: ENST00000595962.1, ENST00000595962.2, ENST00000595962.3, ENST00000595962.4, ENST00000595962.5, NM_144684, Q5JPG9, Q6P0Q4, Q8N1M5, Q8WV37, uc010ydl.1, uc010ydl.2, uc010ydl.3, uc010ydl.4, ZN480_HUMAN
UCSC ID: ENST00000595962.6
RefSeq Accession: NM_144684
Protein: Q8WV37 (aka ZN480_HUMAN)
CCDS: CCDS12850.2

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