Human Gene ZNF483 (ENST00000309235.6_4) from GENCODE V47lift37
  Description: zinc finger protein 483, transcript variant 1 (from RefSeq NM_133464.5)
Gencode Transcript: ENST00000309235.6_4
Gencode Gene: ENSG00000173258.13_8
Transcript (Including UTRs)
   Position: hg19 chr9:114,287,459-114,317,697 Size: 30,239 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg19 chr9:114,289,676-114,305,450 Size: 15,775 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:114,287,459-114,317,697)mRNA (may differ from genome)Protein (744 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMGIPubMedReactomeUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ZN483_HUMAN
DESCRIPTION: RecName: Full=Zinc finger protein 483; AltName: Full=Zinc finger protein with KRAB and SCAN domains 16;
FUNCTION: May be involved in transcriptional regulation.
SUBCELLULAR LOCATION: Nucleus (Probable).
SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein family.
SIMILARITY: Contains 11 C2H2-type zinc fingers.
SIMILARITY: Contains 1 KRAB domain.
SIMILARITY: Contains 1 SCAN box domain.
SEQUENCE CAUTION: Sequence=BAB85548.1; Type=Erroneous initiation;

-  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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 2.43 RPKM in Testis
Total median expression: 29.05 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 -71.90212-0.339 Picture PostScript Text
3' UTR -3103.7012247-0.253 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
IPR008916 - Retrov_capsid_C
IPR003309 - Tscrpt_reg_SCAN
IPR007087 - Znf_C2H2
IPR015880 - Znf_C2H2-like
IPR013087 - Znf_C2H2/integrase_DNA-bd

Pfam Domains:
PF00096 - Zinc finger, C2H2 type
PF01352 - KRAB box
PF02023 - SCAN domain
PF13894 - C2H2-type zinc finger
PF13912 - C2H2-type zinc finger
PF13913 - zinc-finger of a C2HC-type

SCOP Domains:
109640 - KRAB domain (Kruppel-associated box)
47353 - Retrovirus capsid dimerization domain-like
55550 - SH2 domain
57667 - beta-beta-alpha zinc fingers
57716 - Glucocorticoid receptor-like (DNA-binding domain)
57783 - Zinc beta-ribbon
57903 - FYVE/PHD zinc finger

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2CTU - NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q8TF39
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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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  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:0003700 transcription factor activity, sequence-specific 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
  AK092811 - Homo sapiens cDNA FLJ35492 fis, clone SMINT2008672, moderately similar to ZINC FINGER PROTEIN 191.
AX747743 - Sequence 1268 from Patent EP1308459.
AK291267 - Homo sapiens cDNA FLJ77541 complete cds, highly similar to Homo sapiens zinc finger protein 483 (ZNF483), transcript variant 1, mRNA.
BC065738 - Homo sapiens zinc finger protein 483, mRNA (cDNA clone IMAGE:30402725), complete cds.
AB075842 - Homo sapiens mRNA for KIAA1962 protein.
BC152427 - Homo sapiens zinc finger protein 483, mRNA (cDNA clone MGC:176662 IMAGE:8862541), complete cds.
BC152433 - Homo sapiens zinc finger protein 483, mRNA (cDNA clone MGC:176673 IMAGE:8862552), complete cds.
BC136695 - Homo sapiens zinc finger protein 483, mRNA (cDNA clone MGC:168308 IMAGE:9020685), complete cds.
BC136696 - Homo sapiens zinc finger protein 483, mRNA (cDNA clone MGC:168309 IMAGE:9020686), complete cds.
CU688092 - Synthetic construct Homo sapiens gateway clone IMAGE:100022421 5' read ZNF483 mRNA.
KJ903911 - Synthetic construct Homo sapiens clone ccsbBroadEn_13305 ZNF483 gene, encodes complete protein.
AB384336 - Synthetic construct DNA, clone: pF1KSDA1962, Homo sapiens ZNF483 gene for zinc finger protein 483, complete cds, without stop codon, in Flexi system.
BC020893 - Homo sapiens zinc finger protein 483, mRNA (cDNA clone IMAGE:4696296), with apparent retained intron.
JD452643 - Sequence 433667 from Patent EP1572962.
JD278999 - Sequence 260023 from Patent EP1572962.
JD307776 - Sequence 288800 from Patent EP1572962.
JD314875 - Sequence 295899 from Patent EP1572962.
JD314875 - Sequence 295899 from Patent EP1572962.
JD314879 - Sequence 295903 from Patent EP1572962.
JD314877 - Sequence 295901 from Patent EP1572962.
JD314878 - Sequence 295902 from Patent EP1572962.
JD327921 - Sequence 308945 from Patent EP1572962.
JD314870 - Sequence 295894 from Patent EP1572962.
JD300768 - Sequence 281792 from Patent EP1572962.
JD348681 - Sequence 329705 from Patent EP1572962.
JD300411 - Sequence 281435 from Patent EP1572962.
JD258521 - Sequence 239545 from Patent EP1572962.
JD188645 - Sequence 169669 from Patent EP1572962.
JD280899 - Sequence 261923 from Patent EP1572962.
JD143010 - Sequence 124034 from Patent EP1572962.
JD277473 - Sequence 258497 from Patent EP1572962.
JD255840 - Sequence 236864 from Patent EP1572962.
JD255839 - Sequence 236863 from Patent EP1572962.
JD212292 - Sequence 193316 from Patent EP1572962.
JD327548 - Sequence 308572 from Patent EP1572962.
JD297911 - Sequence 278935 from Patent EP1572962.
JD449541 - Sequence 430565 from Patent EP1572962.
JD485952 - Sequence 466976 from Patent EP1572962.
JD314357 - Sequence 295381 from Patent EP1572962.
AK123238 - Homo sapiens cDNA FLJ41244 fis, clone BRAMY2032344.
AK054857 - Homo sapiens cDNA FLJ30295 fis, clone BRACE2003097.
KJ905128 - Synthetic construct Homo sapiens clone ccsbBroadEn_14522 hypothetical protein, encodes complete protein.
BC041986 - Homo sapiens cDNA clone IMAGE:5303689.

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

Protein Q8TF39 (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: ENST00000309235.1, ENST00000309235.2, ENST00000309235.3, ENST00000309235.4, ENST00000309235.5, KIAA1962, NM_133464, Q5VZN2, Q8NAE1, Q8TF39, uc317omg.1, uc317omg.2, ZKSCAN16, ZN483_HUMAN
UCSC ID: ENST00000309235.6_4
RefSeq Accession: NM_133464.5
Protein: Q8TF39 (aka ZN483_HUMAN or Z483_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

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