Human Gene ZNF383 (uc002ofu.1)
  Description: Homo sapiens zinc finger protein 383 (ZNF383), mRNA.
RefSeq Summary (NM_152604): The protein encoded by this gene is a KRAB-related zinc finger protein that inhibits the transcription of some MAPK signaling pathway genes. The repressor activity resides in the KRAB domain of the encoded protein. [provided by RefSeq, Sep 2016].
Transcript (Including UTRs)
   Position: hg19 chr19:37,717,366-37,734,574 Size: 17,209 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg19 chr19:37,721,356-37,734,566 Size: 13,211 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:37,717,366-37,734,574)mRNA (may differ from genome)Protein (475 aa)
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neXtProtPubMedReactomeTreefamUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ZN383_HUMAN
DESCRIPTION: RecName: Full=Zinc finger protein 383;
FUNCTION: May function as a transcriptional repressor, suppressing transcriptional activities mediated by MAPK signaling pathways.
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Shuttling between the nucleus and cytoplasm may occur under different stimulation and growth conditions.
TISSUE SPECIFICITY: Expressed in heart, placenta, liver, pancreas and with a higher level in skeletal muscle.
DEVELOPMENTAL STAGE: In tissues from a six months embryo, highly expressed in heart, testis and skeletal muscle, lower expression levels in kidney, intestines and prostate.
DOMAIN: The KRAB domain is responsible for the transcriptional repressor activity.
SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein family.
SIMILARITY: Contains 11 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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ZNF383
CDC HuGE Published Literature: ZNF383
Positive Disease Associations: Asthma
Related Studies:
  1. Asthma
    , , . [PubMed 0]

-  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: 2.83 RPKM in Testis
Total median expression: 88.48 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 -49.69258-0.193 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
PF13465 - Zinc-finger double domain
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 Q8NA42
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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 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
GO:0005737 cytoplasm
GO:0031965 nuclear membrane


-  Descriptions from all associated GenBank mRNAs
  AK091760 - Homo sapiens cDNA FLJ34441 fis, clone HLUNG2001459, highly similar to Zinc finger protein 383.
AX747168 - Sequence 693 from Patent EP1308459.
AK122892 - Homo sapiens cDNA FLJ16547 fis, clone PERIC2009001, moderately similar to M.domesticus (C57Bl/6J) mRNA for zinc finger protein 30.
AK093182 - Homo sapiens cDNA FLJ35863 fis, clone TESTI2007524, moderately similar to HYPOTHETICAL ZINC FINGER PROTEIN.
AX747975 - Sequence 1500 from Patent EP1308459.
AY438646 - Homo sapiens zinc finger protein 383 mRNA, complete cds.
JD257938 - Sequence 238962 from Patent EP1572962.
JD059477 - Sequence 40501 from Patent EP1572962.
JD251374 - Sequence 232398 from Patent EP1572962.
JD225803 - Sequence 206827 from Patent EP1572962.
JD300566 - Sequence 281590 from Patent EP1572962.
JD441909 - Sequence 422933 from Patent EP1572962.
AY260141 - Homo sapiens HSD17 mRNA, complete cds.
AB527329 - Synthetic construct DNA, clone: pF1KE0059, Homo sapiens ZNF383 gene for zinc finger protein 383, without stop codon, in Flexi system.
BC148612 - Synthetic construct Homo sapiens clone IMAGE:100015579, MGC:183103 zinc finger protein 383 (ZNF383) mRNA, encodes complete protein.
JD032199 - Sequence 13223 from Patent EP1572962.
JD314886 - Sequence 295910 from Patent EP1572962.
JD314887 - Sequence 295911 from Patent EP1572962.

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

Protein Q8NA42 (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: HSD17, NM_152604, NP_689817, Q6X2C7, Q8NA42, ZN383_HUMAN
UCSC ID: uc002ofu.1
RefSeq Accession: NM_152604
Protein: Q8NA42 (aka ZN383_HUMAN)
CCDS: CCDS12501.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_152604.1
exon count: 5CDS single in 3' UTR: no RNA size: 1694
ORF size: 1428CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2953.00frame 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.