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Aliases for HIVEP1 Gene

Aliases for HIVEP1 Gene

  • Human Immunodeficiency Virus Type I Enhancer Binding Protein 1 2 3 5
  • Human Immunodeficiency Virus Type I Enhancer-Binding Protein 1 2 4
  • Gate Keeper Of Apoptosis-Activating Protein 3 4
  • Cirhin Interaction Protein 3 4
  • Zinc Finger Protein 40 2 3
  • PRDII-BF1 3 4
  • ZNF40 3 4
  • CIRIP 3 4
  • MBP-1 3 4
  • GAAP 3 4
  • 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
  • Schnurri-1 3
  • HIV-EP1 4
  • CRYBP1 3
  • ZNF40A 3
  • ZAS1 3

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 (Human Immunodeficiency Virus Type I Enhancer Binding Protein 1) is a Protein Coding gene. Diseases associated with HIVEP1 include Attention Deficit-Hyperactivity Disorder and Seizure Disorder. Gene Ontology (GO) annotations related to this gene include nucleic acid binding. An important paralog of this gene is HIVEP3.

UniProtKB/Swiss-Prot 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

Additional gene information for HIVEP1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HIVEP1 Gene

Genomics for HIVEP1 Gene

GeneHancer (GH) Regulatory Elements for HIVEP1 Gene

Promoters and enhancers for HIVEP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J012006 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 678.8 +3.4 3417 8.2 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 HIVEP1 RPL15P3 ENSG00000229896 EDN1
GH06J012362 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 25.6 +357.3 357278 5.3 SIN3A ZNF48 YY1 ZNF207 ATF7 ZNF548 RUNX3 RXRA JUNB REST HIVEP1 EDN1 RN7SKP293 LOC105374931 SUMO2P12
GH06J011730 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 21.8 -275.8 -275805 2.6 HDGF PKNOX1 FOXA2 SMAD1 STAT5A BMI1 BATF KLF5 IRF4 RAD21 HIVEP1 TMEM170B THAP12P5 ADTRP NEDD9 GC06M011750 GC06P011709
GH06J011765 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 18 -238.3 -238288 8.7 FOXA2 ARNT SIN3A ZNF766 FOS ATF7 RUNX3 DEK RXRA REST ADTRP HIVEP1 ENSG00000271897 TMEM170B NEDD9 GC06M011750 GC06P011785
GH06J012047 Enhancer 1.3 FANTOM5 Ensembl ENCODE 22.1 +43.0 43003 7.2 STAT5A BMI1 BATF IRF4 ATF7 ETV6 BCLAF1 IKZF2 RUNX3 CREM HIVEP1 LOC101928253 EDN1 ENSG00000229896
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for HIVEP1 Gene

Genomic Locations for HIVEP1 Gene
chr6:12,007,653-12,164,999
(GRCh38/hg38)
Size:
157,347 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; Positions=Several; Evidence={ECO:0000305}; Sequence=CAH73909.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAH73982.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI14768.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI21070.1; Type=Erroneous gene model prediction; 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

Suggested Antigen Peptide Sequences for HIVEP1 Gene

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:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding IEA --
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS 19274049
GO:0001206 transcriptional repressor activity, RNA polymerase II distal enhancer sequence-specific binding IBA,IEA --
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding TAS 2106471
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

Clone Products

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
mitochondrion 5
nucleus 5
cytosol 2

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

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 IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA,IBA --
GO:0006366 transcription by RNA polymerase II IBA --
GO:0007165 signal transduction IBA --
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

Unigene Clusters for HIVEP1 Gene

Human immunodeficiency virus type I enhancer binding protein 1:
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for HIVEP1 Gene

GeneLoc Exon Structure for
HIVEP1
ECgene alternative splicing isoforms for
HIVEP1

Expression for HIVEP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of HIVEP1 Gene:

HIVEP1

SOURCE GeneReport for Unigene cluster for HIVEP1 Gene:

Hs.567284

Evidence on tissue expression from TISSUES for HIVEP1 Gene

  • Liver(4.3)
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 34 33
  • 99.29 (n)
OneToOne
dog
(Canis familiaris)
Mammalia HIVEP1 34 33
  • 82.75 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Hivep1 16 34 33
  • 76.84 (n)
rat
(Rattus norvegicus)
Mammalia Hivep1 33
  • 76.12 (n)
cow
(Bos Taurus)
Mammalia HIVEP1 34 33
  • 75.77 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HIVEP1 34
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HIVEP1 34
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves HIVEP1 34 33
  • 66.72 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HIVEP1 34
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hivep1 33
  • 59.33 (n)
Str.7401 33
zebrafish
(Danio rerio)
Actinopterygii hivep1 34 33
  • 55.6 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta shn 34 35
  • 16 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea sma-9 34
  • 14 (a)
OneToMany
Species where no ortholog for HIVEP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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

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 from dbSNP and Humsavar for HIVEP1 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs776300630 pathogenic, Attention deficit hyperactivity disorder, Hearing impairment, Obsessive-compulsive behavior, Seizures 12,123,884(+) G/C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1126472 benign, not specified 12,125,539(+) A/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs2228211 benign, not specified 12,122,540(+) T/C coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs2228212 benign, not specified 12,124,354(+) C/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs2228220 benign, not specified 12,123,016(+) A/G coding_sequence_variant, missense_variant, non_coding_transcript_variant

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

(3) MalaCards diseases for HIVEP1 Gene - From: HGMD, ClinVar, and GeneCards

- 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
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. 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 22 58
  2. Transcription factor PRDII-BF1 activates human immunodeficiency virus type 1 gene expression. (PMID: 8289330) Seeler JS … Gaynor RB (Journal of virology 1994) 3 4 22 58
  3. 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 22 58
  4. 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 22 58
  5. Localization of the zinc finger DNA-binding protein HIV-EP1/MBP-1/PRDII-BF1 to human chromosome 6p22.3-p24. (PMID: 2037300) Gaynor RB … Lusis AJ (Genomics 1991) 2 3 22 58

Products for HIVEP1 Gene

Sources for HIVEP1 Gene

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