Human Gene HIVEP3 (uc001cha.4)
  Description: Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 2, mRNA.
RefSeq Summary (NM_001127714): This gene encodes a member of the human immunodeficiency virus type 1 enhancer-binding protein family. Members of this protein family contain multiple zinc finger and acid-rich (ZAS) domains and serine-threonine rich regions. This protein acts as a transcription factor and is able to regulate nuclear factor kappaB-mediated transcription by binding the kappaB motif in target genes. This protein also binds the recombination signal sequence that flanks the V, D, and J regions of immunoglobulin and T-cell receptors. Alternate splicing results in both coding and non-coding transcript variants. [provided by RefSeq, Sep 2011].
Transcript (Including UTRs)
   Position: hg19 chr1:41,972,036-42,384,496 Size: 412,461 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg19 chr1:41,976,122-42,050,468 Size: 74,347 Coding Exon Count: 6 

Page IndexSequence and LinksPrimersGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:41,972,036-42,384,496)mRNA (may differ from genome)Protein (2405 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCLynxMGIOMIM
PubMedReactomeTreefamUniProtKBWikipediaBioGrid CRISPR DB

-  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): HIVEP3
CDC HuGE Published Literature: HIVEP3
Positive Disease Associations: Echocardiography , Mental Competency , Neuropsychological Tests , Ocular Physiological Phenomena
Related Studies:
  1. Echocardiography
    Ramachandran S Vasan et al. BMC medical genetics 2007, Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study., BMC medical genetics. [PubMed 17903301]
    In hypothesis-generating GWAS of echocardiography, ETT and BA vascular function in a moderate-sized community-based sample, we identified several SNPs that are candidates for replication attempts and we provide a web-based GWAS resource for the research community.
  2. Mental Competency
    Kathryn L Lunetta et al. BMC medical genetics 2007, Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study., BMC medical genetics. [PubMed 17903295]
    Longevity and aging traits are associated with SNPs on the Affymetrix 100K GeneChip. None of the associations achieved genome-wide significance. These data generate hypotheses and serve as a resource for replication as more genes and biologic pathways are proposed as contributing to longevity and healthy aging.
  3. Neuropsychological Tests
    Sudha Seshadri et al. BMC medical genetics 2007, Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study., BMC medical genetics. [PubMed 17903297]
    Our results suggest that genes associated with clinical neurological disease also have detectable effects on subclinical phenotypes. These hypothesis generating data illustrate the use of an unbiased approach to discover novel pathways that may be involved in brain aging, and could be used to replicate observations made in other studies.
           more ... click here to view the complete list

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  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: 3.52 RPKM in Brain - Cerebellum
Total median expression: 58.16 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 -399.611133-0.353 Picture PostScript Text
3' UTR -1439.704086-0.352 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
  Pfam Domains:
PF00096 - Zinc finger, C2H2 type

SCOP Domains:
57667 - C2H2 and C2HC zinc fingers

ModBase Predicted Comparative 3D Structure on Q5T1R4-2
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
No orthologNo orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

-  Descriptions from all associated GenBank mRNAs
  AF278765 - Homo sapiens kappa B and V(D)J recombination signal sequences binding protein (KRC) mRNA, complete cds.
BC152563 - Homo sapiens human immunodeficiency virus type I enhancer binding protein 3, mRNA (cDNA clone MGC:167844 IMAGE:8860523), complete cds.
AB046775 - Homo sapiens KIAA1555 mRNA for KIAA1555 protein.
BC040942 - Homo sapiens, clone IMAGE:5180231, mRNA.
BC046120 - Homo sapiens, clone IMAGE:5178133, mRNA.
BC080552 - Homo sapiens cDNA clone IMAGE:6254031.
JD186424 - Sequence 167448 from Patent EP1572962.
JD474415 - Sequence 455439 from Patent EP1572962.
JD382615 - Sequence 363639 from Patent EP1572962.
JD489927 - Sequence 470951 from Patent EP1572962.
JD416034 - Sequence 397058 from Patent EP1572962.
JD055536 - Sequence 36560 from Patent EP1572962.
JD253441 - Sequence 234465 from Patent EP1572962.
AK122991 - Homo sapiens cDNA FLJ16752 fis, clone BRACE2013010, highly similar to Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), mRNA.
JD511048 - Sequence 492072 from Patent EP1572962.
JD252225 - Sequence 233249 from Patent EP1572962.
JD166907 - Sequence 147931 from Patent EP1572962.
JD382906 - Sequence 363930 from Patent EP1572962.
JD095475 - Sequence 76499 from Patent EP1572962.
BC172754 - Synthetic construct Homo sapiens clone IMAGE:9095599; MGC:199459 human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3) gene, encodes complete protein.
AB385480 - Synthetic construct DNA, clone: pF1KA1555, Homo sapiens HIVEP3 gene for human immunodeficiency virus type I enhancer binding protein 3, complete cds, without stop codon, in Flexi system.
M61743 - Human kappa binding protein-1 (KBP-1) mRNA, partial cds.
JD487303 - Sequence 468327 from Patent EP1572962.
JD133948 - Sequence 114972 from Patent EP1572962.
JD437774 - Sequence 418798 from Patent EP1572962.
JD275597 - Sequence 256621 from Patent EP1572962.
JD415322 - Sequence 396346 from Patent EP1572962.
JD438700 - Sequence 419724 from Patent EP1572962.
JD362972 - Sequence 343996 from Patent EP1572962.
JD215350 - Sequence 196374 from Patent EP1572962.
JD262431 - Sequence 243455 from Patent EP1572962.
JD058577 - Sequence 39601 from Patent EP1572962.
JD492925 - Sequence 473949 from Patent EP1572962.
JD140041 - Sequence 121065 from Patent EP1572962.

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

Protein Q5T1R4 (Reactome details) participates in the following event(s):

R-HSA-9008036 RUNX2 binds to HIVEP3 and WWP1
R-HSA-9008076 WWP1 polyubiquitinates RUNX2
R-HSA-8939902 Regulation of RUNX2 expression and activity
R-HSA-8878166 Transcriptional regulation by RUNX2
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: KBP1, KIAA1555, KRC, NM_001127714, NP_078779, Q5T1R4-2, ZAS3
UCSC ID: uc001cha.4
RefSeq Accession: NM_001127714
Protein: Q5T1R4-2, splice isoform of Q5T1R4 CCDS: CCDS463.1, CCDS44124.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001127714.2
exon count: 8CDS single in 3' UTR: no RNA size: 12325
ORF size: 7218CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 13865.00frame shift in genome: no % Coverage: 99.95
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: 301# 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.