Human Gene HIVEP1 (ENST00000379388.7_6) from GENCODE V47lift37
  Description: HIVEP zinc finger 1 (from RefSeq NM_002114.4)
Gencode Transcript: ENST00000379388.7_6
Gencode Gene: ENSG00000095951.18_10
Transcript (Including UTRs)
   Position: hg19 chr6:12,012,545-12,165,232 Size: 152,688 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg19 chr6:12,015,862-12,164,694 Size: 148,833 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:12,012,545-12,165,232)mRNA (may differ from genome)Protein (2718 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
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BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ZEP1_HUMAN
DESCRIPTION: RecName: Full=Zinc finger protein 40; AltName: Full=Cirhin interaction protein; Short=CIRIP; AltName: Full=Gate keeper of apoptosis-activating protein; Short=GAAP; AltName: Full=Human immunodeficiency virus type I enhancer-binding protein 1; Short=HIV-EP1; AltName: Full=Major histocompatibility complex-binding protein 1; Short=MBP-1; AltName: Full=Positive regulatory domain II-binding factor 1; Short=PRDII-BF1;
FUNCTION: This protein specifically binds to the DNA sequence 5'- GGGACTTTCC-3' which is found in the enhancer elements of numerous viral promoters such as those of SV40, CMV, or HIV-1. In addition, related sequences are found in the enhancer elements of a number of cellular promoters, including those of the class I MHC, interleukin-2 receptor, and interferon-beta genes. It may act in T-cell activation. Involved in activating HIV-1 gene expression. Isoform 2 and isoform 3 also bind to the IPCS (IRF1 and p53 common sequence) DNA sequence in the promoter region of interferon regulatory factor 1 and p53 genes and are involved in transcription regulation of these genes. Isoform 2 does not activate HIV-1 gene expression. Isoform 2 and isoform 3 may be involved in apoptosis.
SUBUNIT: Interacts with CIRH1A.
INTERACTION: P54253:ATXN1; NbExp=6; IntAct=EBI-722264, EBI-930964; O00555:CACNA1A; NbExp=2; IntAct=EBI-722264, EBI-766279;
SUBCELLULAR LOCATION: Isoform 1: Nucleus.
SUBCELLULAR LOCATION: Isoform 2: Cytoplasm. Nucleus.
SUBCELLULAR LOCATION: Isoform 3: Cytoplasm. Nucleus.
INDUCTION: By mitogens and phorbol ester.
DOMAIN: Contains two sets of 2 zinc-fingers, which are widely separated and recognize the same DNA sequence. There is a fifth zinc-finger in-between.
SIMILARITY: Contains 5 C2H2-type zinc fingers.
SEQUENCE CAUTION: Sequence=CAA35798.1; Type=Frameshift; Positions=Several; Sequence=CAH73909.1; Type=Erroneous gene model prediction; Sequence=CAH73982.1; Type=Erroneous gene model prediction; Sequence=CAI14768.1; Type=Erroneous gene model prediction; Sequence=CAI21070.1; Type=Erroneous gene model prediction;

-  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


-  MalaCards Disease Associations
  MalaCards Gene Search: HIVEP1
Diseases sorted by gene-association score: attention deficit-hyperactivity disorder* (200), visual epilepsy* (163), seizure disorder* (115), north american indian childhood cirrhosis (8)
* = Manually curated disease association

-  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: 7.74 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 126.89 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 -175.70358-0.491 Picture PostScript Text
3' UTR -109.90538-0.204 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
IPR007087 - Znf_C2H2
IPR015880 - Znf_C2H2-like
IPR013087 - Znf_C2H2/integrase_DNA-bd

Pfam Domains:
PF00096 - Zinc finger, C2H2 type

SCOP Domains:
57667 - beta-beta-alpha zinc fingers

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1BBO - NMR MuPIT 3ZNF - NMR MuPIT 4ZNF - NMR MuPIT


ModBase Predicted Comparative 3D Structure on P15822
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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:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001206 transcriptional repressor activity, RNA polymerase II distal enhancer sequence-specific binding
GO:0003676 nucleic acid binding
GO:0003677 DNA binding
GO:0005515 protein binding
GO:0043565 sequence-specific DNA binding
GO:0044212 transcription regulatory region DNA binding
GO:0046872 metal ion binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0007165 signal transduction
GO:0007275 multicellular organism development

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0016604 nuclear body


-  Descriptions from all associated GenBank mRNAs
  X51435 - Human PRDII-BF1 gene for a DNA-binding protein.
BC140816 - Homo sapiens human immunodeficiency virus type I enhancer binding protein 1, mRNA (cDNA clone MGC:176493 IMAGE:9021684), complete cds.
AB527403 - Synthetic construct DNA, clone: pF1KE0298, Homo sapiens HIVEP1 gene for human immunodeficiency virus type I enhancer binding protein 1, without stop codon, in Flexi system.
JD407293 - Sequence 388317 from Patent EP1572962.
JD211180 - Sequence 192204 from Patent EP1572962.
JD338075 - Sequence 319099 from Patent EP1572962.
BC028111 - Homo sapiens human immunodeficiency virus type I enhancer binding protein 1, mRNA (cDNA clone IMAGE:5392565), partial cds.
M32019 - Human DNA-binding protein (mbp-1) mRNA, complete cds.
AK294338 - Homo sapiens cDNA FLJ57104 complete cds, highly similar to Zinc finger protein 40.
AY673640 - Homo sapiens cirhin interaction protein (CIRIP) mRNA, partial cds.
J05011 - Homo sapiens HIV-1 enhancer binding protein, partial cds.
JD063674 - Sequence 44698 from Patent EP1572962.
JD561527 - Sequence 542551 from Patent EP1572962.
JD282237 - Sequence 263261 from Patent EP1572962.
JD561682 - Sequence 542706 from Patent EP1572962.
JD283516 - Sequence 264540 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B2RTU3, ENST00000379388.1, ENST00000379388.2, ENST00000379388.3, ENST00000379388.4, ENST00000379388.5, ENST00000379388.6, NM_002114, P15822, Q14122, Q5MPB1, Q5VW60, uc318oyd.1, uc318oyd.2, ZEP1_HUMAN, ZNF40
UCSC ID: ENST00000379388.7_6
RefSeq Accession: NM_002114.4
Protein: P15822 (aka ZEP1_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.