Human Gene ZNF43 (uc031rka.1) Description and Page Index
  Description: Homo sapiens zinc finger protein 43 (ZNF43), transcript variant 5, mRNA.
RefSeq Summary (NM_001256653): This gene belongs to the C2H2-type zinc finger gene family. The zinc finger proteins are involved in gene regulation and development, and are quite conserved throughout evolution. Like this gene product, a third of the zinc finger proteins containing C2H2 fingers also contain the KRAB domain, which has been found to be involved in protein-protein interactions. [provided by RefSeq, Jul 2008].
Transcript (Including UTRs)
   Position: hg19 chr19:21,987,751-22,034,870 Size: 47,120 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg19 chr19:21,990,409-22,034,736 Size: 44,328 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr19:21,987,751-22,034,870)mRNA (may differ from genome)Protein (818 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
OMIMPubMedReactomeStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Zinc finger protein 43; AltName: Full=Zinc finger protein 39; AltName: Full=Zinc finger protein HTF6; AltName: Full=Zinc finger protein KOX27;
FUNCTION: May be involved in transcriptional regulation.
TISSUE SPECIFICITY: T- and B-cell lines.
SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein family.
SIMILARITY: Contains 22 C2H2-type zinc fingers.
SIMILARITY: Contains 1 KRAB domain.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ZNF43
CDC HuGE Published Literature: ZNF43
Positive Disease Associations: Cholesterol , Cholesterol, LDL , Waist-Hip Ratio
Related Studies:
  1. Cholesterol
    , , . [PubMed 0]
  2. Cholesterol, LDL
    , , . [PubMed 0]
  3. Waist-Hip Ratio
    , , . [PubMed 0]
           more ... click here to view the complete list

-  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: 3.84 RPKM in Testis
Total median expression: 75.02 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 -38.20134-0.285 Picture PostScript Text
3' UTR -840.632658-0.316 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:
PF00096 - Zinc finger, C2H2 type
PF01352 - KRAB box
PF13912 - C2H2-type zinc finger

SCOP Domains:
48695 - Multiheme cytochromes
109640 - KRAB domain (Kruppel-associated box, Pfam 01352)
57667 - C2H2 and C2HC zinc fingers

ModBase Predicted Comparative 3D Structure on P17038
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 orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
 Gene Details    
 Gene Sorter    
 Protein Sequence    

-  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
  CR933640 - Homo sapiens mRNA; cDNA DKFZp686L1854 (from clone DKFZp686L1854).
AK291353 - Homo sapiens cDNA FLJ77257 complete cds, highly similar to Homo sapiens zinc finger protein 43 (HTF6) (ZNF43), mRNA.
X59244 - Human ZNF43 mRNA.
AK022905 - Homo sapiens cDNA FLJ12843 fis, clone NT2RP2003293.
JD070102 - Sequence 51126 from Patent EP1572962.
JD514082 - Sequence 495106 from Patent EP1572962.
JD151010 - Sequence 132034 from Patent EP1572962.
JD139546 - Sequence 120570 from Patent EP1572962.
JD460050 - Sequence 441074 from Patent EP1572962.
JD208755 - Sequence 189779 from Patent EP1572962.
JD294207 - Sequence 275231 from Patent EP1572962.
JD432537 - Sequence 413561 from Patent EP1572962.
JD102069 - Sequence 83093 from Patent EP1572962.
JD185884 - Sequence 166908 from Patent EP1572962.
JD481596 - Sequence 462620 from Patent EP1572962.
BC006528 - Homo sapiens zinc finger protein 43, mRNA (cDNA clone MGC:10581 IMAGE:3687640), complete cds.
JD350272 - Sequence 331296 from Patent EP1572962.
BT009756 - Homo sapiens zinc finger protein 43 (HTF6) mRNA, complete cds.
KJ897763 - Synthetic construct Homo sapiens clone ccsbBroadEn_07157 ZNF43 gene, encodes complete protein.
AB463367 - Synthetic construct DNA, clone: pF1KB8418, Homo sapiens ZNF43 gene for zinc finger protein 43, without stop codon, in Flexi system.
AM392575 - Synthetic construct Homo sapiens clone IMAGE:100002261 for hypothetical protein (ZNF43 gene).
AM392644 - Synthetic construct Homo sapiens clone IMAGE:100002262 for hypothetical protein (ZNF43 gene).
JD083893 - Sequence 64917 from Patent EP1572962.
JD314879 - Sequence 295903 from Patent EP1572962.
JD330508 - Sequence 311532 from Patent EP1572962.
LF350906 - JP 2014500723-A/158409: Polycomb-Associated Non-Coding RNAs.
JD327922 - Sequence 308946 from Patent EP1572962.
JD051981 - Sequence 33005 from Patent EP1572962.
LF357319 - JP 2014500723-A/164822: Polycomb-Associated Non-Coding RNAs.
X52358 - Human Kox27 mRNA for zinc finger protein, partial.
JD037677 - Sequence 18701 from Patent EP1572962.
JD037677 - Sequence 18701 from Patent EP1572962.
JD442012 - Sequence 423036 from Patent EP1572962.
AF112859 - Homo sapiens zinc finger protein 43 (ZNF43) mRNA, partial sequence.
JD066994 - Sequence 48018 from Patent EP1572962.
JD330516 - Sequence 311540 from Patent EP1572962.
JD330513 - Sequence 311537 from Patent EP1572962.
JD330514 - Sequence 311538 from Patent EP1572962.
JD330515 - Sequence 311539 from Patent EP1572962.
JD442012 - Sequence 423036 from Patent EP1572962.
M61869 - Human Krueppel-related DNA-binding protein (TF6) mRNA, 5' end.
JD103006 - Sequence 84030 from Patent EP1572962.
JD098181 - Sequence 79205 from Patent EP1572962.
JD098182 - Sequence 79206 from Patent EP1572962.
MA586483 - JP 2018138019-A/158409: Polycomb-Associated Non-Coding RNAs.
MA592896 - JP 2018138019-A/164822: Polycomb-Associated Non-Coding RNAs.
JD191963 - Sequence 172987 from Patent EP1572962.
JD354231 - Sequence 335255 from Patent EP1572962.
JD229032 - Sequence 210056 from Patent EP1572962.

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

Protein P17038 (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: A8K5N8, KOX27, NM_001256653, NP_001243582, P17038, P28160, Q53XQ2, Q5H9T3, Q96DG1, uc010ecv.3, ZNF39, ZNF39L1, ZNF43_HUMAN
UCSC ID: uc031rka.1
RefSeq Accession: NM_001256653
Protein: P17038 (aka ZNF43_HUMAN or ZN43_HUMAN)
CCDS: CCDS12413.2, CCDS59367.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_001256653.1
exon count: 4CDS single in 3' UTR: no RNA size: 5249
ORF size: 2457CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 5102.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.