This gene encodes a transcription factor belonging to the ZAS family, members of which are large proteins that contain a ZAS domain - a modular protein structure consisting of a pair of C2H2 zinc fingers with an acidic-rich region and a serine/threonine-rich sequence. These proteins bind specifically to the DNA sequence motif, GGGACTTTCC, found in the enhancer elements of sever... See more...

Aliases for HIVEP1 Gene

Aliases for HIVEP1 Gene

  • HIVEP Zinc Finger 1 2 3 5
  • Zinc Finger Protein 40 2 3 4
  • PRDII-BF1 2 3 4
  • CIRIP 2 3 4
  • MBP-1 2 3 4
  • Human Immunodeficiency Virus Type I Enhancer-Binding Protein 1 2 4
  • Human Immunodeficiency Virus Type I Enhancer Binding Protein 1 2 3
  • Gate Keeper Of Apoptosis-Activating Protein 3 4
  • Cirhin Interaction Protein 3 4
  • Schnurri-1 2 3
  • CRYBP1 2 3
  • ZNF40A 2 3
  • ZNF40 3 4
  • GAAP 3 4
  • ZAS1 2 3
  • Major Histocompatibility Complex Binding Protein 1 3
  • Major Histocompatibility Complex-Binding Protein 1 4
  • Positive Regulatory Domain II Binding Factor 1 3
  • Positive Regulatory Domain II-Binding Factor 1 4
  • HIV-EP1 4
  • HIVEP1 5

External Ids for HIVEP1 Gene

Previous HGNC Symbols for HIVEP1 Gene

  • ZNF40

Previous GeneCards Identifiers for HIVEP1 Gene

  • GC06P012070
  • GC06P012120
  • GC06P011947

Summaries for HIVEP1 Gene

Entrez Gene Summary for HIVEP1 Gene

  • This gene encodes a transcription factor belonging to the ZAS family, members of which are large proteins that contain a ZAS domain - a modular protein structure consisting of a pair of C2H2 zinc fingers with an acidic-rich region and a serine/threonine-rich sequence. These proteins bind specifically to the DNA sequence motif, GGGACTTTCC, found in the enhancer elements of several viral promoters, including human immunodeficiency virus (HIV), and to related sequences found in the enhancer elements of a number of cellular promoters. This protein binds to this sequence motif, suggesting a role in the transcriptional regulation of both viral and cellular genes. [provided by RefSeq, Oct 2011]

GeneCards Summary for HIVEP1 Gene

HIVEP1 (HIVEP Zinc Finger 1) is a Protein Coding gene. Diseases associated with HIVEP1 include Obsessive-Compulsive Disorder and Attention Deficit-Hyperactivity Disorder. Gene Ontology (GO) annotations related to this gene include nucleic acid binding. An important paralog of this gene is HIVEP2.

UniProtKB/Swiss-Prot Summary for HIVEP1 Gene

  • 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.

Gene Wiki entry for HIVEP1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HIVEP1 Gene

Genomics for HIVEP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HIVEP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HIVEP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HIVEP1

Top Transcription factor binding sites by QIAGEN in the HIVEP1 gene promoter:
  • Evi-1
  • IRF-7A
  • LCR-F1
  • Pax-4a
  • RFX1
  • RSRFC4
  • STAT3
  • TBP
  • YY1

Genomic Locations for HIVEP1 Gene

Genomic Locations for HIVEP1 Gene
chr6:12,002,096-12,212,034
(GRCh38/hg38)
Size:
209,939 bases
Orientation:
Plus strand
chr6:12,008,995-12,165,232
(GRCh37/hg19)
Size:
156,238 bases
Orientation:
Plus strand

Genomic View for HIVEP1 Gene

Genes around HIVEP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HIVEP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HIVEP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HIVEP1 Gene

Proteins for HIVEP1 Gene

  • Protein details for HIVEP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P15822-ZEP1_HUMAN
    Recommended name:
    Zinc finger protein 40
    Protein Accession:
    P15822
    Secondary Accessions:
    • B2RTU3
    • Q14122
    • Q5MPB1
    • Q5VW60

    Protein attributes for HIVEP1 Gene

    Size:
    2718 amino acids
    Molecular mass:
    296865 Da
    Quaternary structure:
    • Interacts with UTP4.
    SequenceCaution:
    • Sequence=CAA35798.1; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for HIVEP1 Gene

    Alternative splice isoforms for HIVEP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HIVEP1 Gene

Post-translational modifications for HIVEP1 Gene

  • Ubiquitination at Lys661
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for HIVEP1 Gene

Domains & Families for HIVEP1 Gene

Gene Families for HIVEP1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for HIVEP1 Gene

InterPro:
Blocks:
  • C2H2-type zinc finger signature
ProtoNet:

Suggested Antigen Peptide Sequences for HIVEP1 Gene

GenScript: Design optimal peptide antigens:
  • Immunodeficiency virus type I enhancer binding protein 1 (Q5VW59_HUMAN)
  • Positive regulatory domain II-binding factor 1 (ZEP1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P15822

UniProtKB/Swiss-Prot:

ZEP1_HUMAN :
  • 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.
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.
genes like me logo Genes that share domains with HIVEP1: view

Function for HIVEP1 Gene

Molecular function for HIVEP1 Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction:
By mitogens and phorbol ester.
GENATLAS Biochemistry:
human immunodeficiency virus type I enhancer binding protein 1,MHC binding protein 1,positive regulatory domain II binding (HIV - EP1/MBP1/PRDII - BF1)

Phenotypes From GWAS Catalog for HIVEP1 Gene

Gene Ontology (GO) - Molecular Function for HIVEP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific IEA --
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding TAS 2106471
GO:0005515 protein binding IPI 16713569
genes like me logo Genes that share ontologies with HIVEP1: view
genes like me logo Genes that share phenotypes with HIVEP1: view

Animal Models for HIVEP1 Gene

MGI Knock Outs for HIVEP1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HIVEP1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HIVEP1 Gene

Localization for HIVEP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HIVEP1 Gene

[Isoform 1]: Nucleus.
[Isoform 2]: Cytoplasm. Nucleus.
[Isoform 3]: Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HIVEP1 gene
Compartment Confidence
nucleus 5
mitochondrion 4
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (3)
  • Nucleoplasm (3)
  • Mitochondria (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HIVEP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS,IDA 19732766
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IDA --
GO:0016604 nuclear body IDA --
genes like me logo Genes that share ontologies with HIVEP1: view

Pathways & Interactions for HIVEP1 Gene

PathCards logo

SuperPathways for HIVEP1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for HIVEP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IDA 17008448
GO:0030509 BMP signaling pathway IDA 17008448
GO:0045944 positive regulation of transcription by RNA polymerase II IDA 17008448
genes like me logo Genes that share ontologies with HIVEP1: view

No data available for Pathways by source and SIGNOR curated interactions for HIVEP1 Gene

Drugs & Compounds for HIVEP1 Gene

(1) Drugs for HIVEP1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with HIVEP1: view

Transcripts for HIVEP1 Gene

mRNA/cDNA for HIVEP1 Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HIVEP1

Alternative Splicing Database (ASD) splice patterns (SP) for HIVEP1 Gene

No ASD Table

Relevant External Links for HIVEP1 Gene

GeneLoc Exon Structure for
HIVEP1

Expression for HIVEP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HIVEP1 Gene

Protein differential expression in normal tissues from HIPED for HIVEP1 Gene

This gene is overexpressed in Heart (57.2) and Adipocyte (11.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HIVEP1 Gene



Protein tissue co-expression partners for HIVEP1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HIVEP1

SOURCE GeneReport for Unigene cluster for HIVEP1 Gene:

Hs.567284

Evidence on tissue expression from TISSUES for HIVEP1 Gene

  • Liver(4.4)
genes like me logo Genes that share expression patterns with HIVEP1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HIVEP1 Gene

Orthologs for HIVEP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for HIVEP1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia HIVEP1 30 31
  • 99.29 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia HIVEP1 30 31
  • 82.75 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Hivep1 30 17 31
  • 76.84 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Hivep1 30
  • 76.12 (n)
Cow
(Bos Taurus)
Mammalia HIVEP1 30 31
  • 75.77 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia HIVEP1 31
  • 68 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia HIVEP1 31
  • 64 (a)
OneToOne
Chicken
(Gallus gallus)
Aves HIVEP1 30 31
  • 66.72 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia HIVEP1 31
  • 55 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia hivep1 30
  • 59.33 (n)
Str.7401 30
Zebrafish
(Danio rerio)
Actinopterygii hivep1 30 31
  • 55.6 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta shn 31 32
  • 16 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea sma-9 31
  • 14 (a)
OneToMany
Species where no ortholog for HIVEP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for HIVEP1 Gene

ENSEMBL:
Gene Tree for HIVEP1 (if available)
TreeFam:
Gene Tree for HIVEP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HIVEP1: view image

Paralogs for HIVEP1 Gene

(10) SIMAP similar genes for HIVEP1 Gene using alignment to 9 proteins:

  • ZEP1_HUMAN
  • C9J2N3_HUMAN
  • C9JAW2_HUMAN
  • C9JLG1_HUMAN
  • C9JZF8_HUMAN
  • C9JZV1_HUMAN
  • F5H212_HUMAN
  • H7BYU7_HUMAN
  • L8EC93_HUMAN
genes like me logo Genes that share paralogs with HIVEP1: view

Variants for HIVEP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HIVEP1 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
708913 Benign: not provided 12,120,303(+) A/G MISSENSE_VARIANT
708914 Benign: not provided 12,120,880(+) C/T MISSENSE_VARIANT
708915 Benign: not provided 12,135,786(+) T/C INTRON_VARIANT
711439 Benign: not provided 12,124,400(+) G/A SYNONYMOUS_VARIANT
714289 Benign: not provided 12,123,982(+) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for HIVEP1 Gene

Structural Variations from Database of Genomic Variants (DGV) for HIVEP1 Gene

Variant ID Type Subtype PubMed ID
esv22880 CNV gain+loss 19812545
esv2656995 CNV deletion 23128226
esv2662717 CNV deletion 23128226
esv2670070 CNV deletion 23128226
esv2677354 CNV deletion 23128226
esv3303878 CNV mobile element insertion 20981092
esv3309155 CNV mobile element insertion 20981092
esv3374004 CNV insertion 20981092
esv3398493 CNV insertion 20981092
esv3430431 CNV insertion 20981092
esv3570771 CNV loss 25503493
esv3608104 CNV loss 21293372
esv3608105 CNV loss 21293372
nsv1074378 CNV deletion 25765185
nsv1074910 CNV deletion 25765185
nsv1119071 CNV deletion 24896259
nsv509116 CNV insertion 20534489
nsv830586 CNV gain 17160897
nsv950770 CNV deletion 24416366

Variation tolerance for HIVEP1 Gene

Residual Variation Intolerance Score: 14.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.52; 91.13% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HIVEP1 Gene

Human Gene Mutation Database (HGMD)
HIVEP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HIVEP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HIVEP1 Gene

Disorders for HIVEP1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for HIVEP1 Gene - From: ClinVar, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
obsessive-compulsive disorder
  • ocd
attention deficit-hyperactivity disorder
  • adhd
visual epilepsy
  • epilepsy, visual
immune deficiency disease
  • primary immunodeficiency disease
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for HIVEP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with HIVEP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HIVEP1 Gene

Publications for HIVEP1 Gene

  1. A large protein containing zinc finger domains binds to related sequence elements in the enhancers of the class I major histocompatibility complex and kappa immunoglobulin genes. (PMID: 2108316) Baldwin AS … Sharp PA (Molecular and cellular biology 1990) 2 3 4 23
  2. Cirhin up-regulates a canonical NF-kappaB element through strong interaction with Cirip/HIVEP1. (PMID: 19732766) Yu B … Richter A (Experimental cell research 2009) 3 4 23
  3. Transcription factor PRDII-BF1 activates human immunodeficiency virus type 1 gene expression. (PMID: 8289330) Seeler JS … Gaynor RB (Journal of virology 1994) 3 4 23
  4. High-resolution solution structure of the double Cys2His2 zinc finger from the human enhancer binding protein MBP-1. (PMID: 1567844) Omichinski JG … Gronenborn AM (Biochemistry 1992) 3 4 23
  5. Regulation of human immunodeficiency virus enhancer function by PRDII-BF1 and c-rel gene products. (PMID: 1727488) Muchardt C … Gaynor RB (Journal of virology 1992) 3 4 23

Products for HIVEP1 Gene

Sources for HIVEP1 Gene