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    HIVEP1 HIVEP zinc finger 1 [ Homo sapiens (human) ]

    Gene ID: 3096, updated on 3-Apr-2024

    Summary

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    Official Symbol
    HIVEP1provided by HGNC
    Official Full Name
    HIVEP zinc finger 1provided by HGNC
    Primary source
    HGNC:HGNC:4920
    See related
    Ensembl:ENSG00000095951 MIM:194540; AllianceGenome:HGNC:4920
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GAAP; ZAS1; CIRIP; MBP-1; ZNF40; CRYBP1; ZNF40A; PRDII-BF1; Schnurri-1
    Summary
    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]
    Expression
    Ubiquitous expression in gall bladder (RPKM 3.0), appendix (RPKM 2.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See HIVEP1 in Genome Data Viewer
    Location:
    6p24.1
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (12007693..12212048)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (11875799..12080415)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (12012545..12165232)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986570 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:11935862-11936084 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23999 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24000 Neighboring gene uncharacterized LOC101928253 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16919 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:12010596-12011140 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16920 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16921 Neighboring gene Sharpr-MPRA regulatory region 4667 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:12036533-12037034 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:12037035-12037534 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24001 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24002 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24003 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24006 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24005 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24004 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:12099563-12100062 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24007 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24008 Neighboring gene Sharpr-MPRA regulatory region 8641 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24011 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24012 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:12164419-12164919 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24013 Neighboring gene uncharacterized LOC124901260 Neighboring gene endothelin 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16922 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:12288202-12288702 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:12288703-12289203 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24014 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24015 Neighboring gene SUMO2 pseudogene 12

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. A follow-up study of a genome-wide association scan identifies a susceptibility locus for venous thrombosis on chromosome 6p24.1. Morange PE, et al. Am J Hum Genet, 2010 Apr 9. PMID 20226436, Free PMC Article
    2. Novel zinc chelators with dual activity in the inhibition of the kappa B site-binding proteins HIV-EP1 and NF-kappa B. Otsuka M, et al. J Med Chem, 1995 Aug 18. PMID 7650680
    3. Putative metal finger structure of the human immunodeficiency virus type 1 enhancer binding protein HIV-EP1. Maekawa T, et al. J Biol Chem, 1989 Sep 5. PMID 2504707
    4. High-resolution three-dimensional structure of a single zinc finger from a human enhancer binding protein in solution. Omichinski JG, et al. Biochemistry, 1990 Oct 9. PMID 2248949
    5. 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. Baldwin AS Jr, et al. Mol Cell Biol, 1990 Apr. PMID 2108316, Free PMC Article

    See all (64) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Downregulation of tumor suppressor MBP-1 by microRNA-363 in gastric carcinogenesis.
      Title: Downregulation of tumor suppressor MBP-1 by microRNA-363 in gastric carcinogenesis.
    2. HIVEP1 rs169713C allele was associated with venous thrombosis.
      Title: A follow-up study of a genome-wide association scan identifies a susceptibility locus for venous thrombosis on chromosome 6p24.1.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: A large-scale candidate gene association study of age at menarche and age at natural menopause.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide pharmacogenomic analysis of response to treatment with antipsychotics.
    EBI GWAS Catalog
    Genome-wide search for replicable risk gene regions in alcohol and nicotine co-dependence.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat PRDII-BF1 activates HIV-1 gene expression and an antisense PRDII-BF1 construct inhibits Tat-induced HIV-1 gene expression, suggesting a role for PRDII-BF1 in enhancing Tat transactivation of the HIV-1 LTR promoter PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription repressor activity, RNA polymerase II-specific IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in BMP signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    zinc finger protein 40
    Names
    cirhin interaction protein
    gate keeper of apoptosis-activating protein
    human immunodeficiency virus type I enhancer binding protein 1
    major histocompatibility complex binding protein 1
    positive regulatory domain II binding factor 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_002114.4 → NP_002105.3  zinc finger protein 40

      See identical proteins and their annotated locations for NP_002105.3

      Status: VALIDATED

      Source sequence(s)
      AA563642, AI033710, AL157373, AL391828, BC140816
      Consensus CDS
      CCDS43426.1
      UniProtKB/Swiss-Prot
      B2RTU3, P15822, Q14122, Q5MPB1, Q5VW60
      UniProtKB/TrEMBL
      F5H212
      Related
      ENSP00000368698.2, ENST00000379388.7
      Conserved Domains (5) summary
      sd00017
      Location:408 → 428
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:2090 → 2110
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:2088 → 2110
      zf-C2H2; Zinc finger, C2H2 type
      pfam12756
      Location:2116 → 2181
      zf-C2H2_2; C2H2 type zinc-finger (2 copies)
      pfam13465
      Location:2102 → 2127
      zf-H2C2_2; Zinc-finger double domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      12007693..12212048
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047418701.1 → XP_047274657.1  zinc finger protein 40 isoform X4

    2. XM_047418699.1 → XP_047274655.1  zinc finger protein 40 isoform X2

      UniProtKB/Swiss-Prot
      B2RTU3, P15822, Q14122, Q5MPB1, Q5VW60

    3. XM_011514548.3 → XP_011512850.1  zinc finger protein 40 isoform X1

      See identical proteins and their annotated locations for XP_011512850.1

      UniProtKB/TrEMBL
      F5H212
      Conserved Domains (5) summary
      sd00017
      Location:417 → 437
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:2099 → 2119
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:2097 → 2119
      zf-C2H2; Zinc finger, C2H2 type
      pfam12756
      Location:2125 → 2190
      zf-C2H2_2; C2H2 type zinc-finger (2 copies)
      pfam13465
      Location:2111 → 2136
      zf-H2C2_2; Zinc-finger double domain

    4. XM_047418700.1 → XP_047274656.1  zinc finger protein 40 isoform X2

      UniProtKB/Swiss-Prot
      B2RTU3, P15822, Q14122, Q5MPB1, Q5VW60

    5. XM_047418705.1 → XP_047274661.1  zinc finger protein 40 isoform X6

    6. XM_047418697.1 → XP_047274653.1  zinc finger protein 40 isoform X2

      UniProtKB/Swiss-Prot
      B2RTU3, P15822, Q14122, Q5MPB1, Q5VW60

    7. XM_047418698.1 → XP_047274654.1  zinc finger protein 40 isoform X2

      UniProtKB/Swiss-Prot
      B2RTU3, P15822, Q14122, Q5MPB1, Q5VW60

    8. XM_011514552.3 → XP_011512854.1  zinc finger protein 40 isoform X2

      See identical proteins and their annotated locations for XP_011512854.1

      UniProtKB/Swiss-Prot
      B2RTU3, P15822, Q14122, Q5MPB1, Q5VW60
      UniProtKB/TrEMBL
      F5H212
      Conserved Domains (5) summary
      sd00017
      Location:408 → 428
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:2090 → 2110
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:2088 → 2110
      zf-C2H2; Zinc finger, C2H2 type
      pfam12756
      Location:2116 → 2181
      zf-C2H2_2; C2H2 type zinc-finger (2 copies)
      pfam13465
      Location:2102 → 2127
      zf-H2C2_2; Zinc-finger double domain

    9. XM_047418702.1 → XP_047274658.1  zinc finger protein 40 isoform X5

    10. XM_047418703.1 → XP_047274659.1  zinc finger protein 40 isoform X5

    11. XM_047418706.1 → XP_047274662.1  zinc finger protein 40 isoform X7

    12. XM_011514553.2 → XP_011512855.1  zinc finger protein 40 isoform X2

      See identical proteins and their annotated locations for XP_011512855.1

      UniProtKB/Swiss-Prot
      B2RTU3, P15822, Q14122, Q5MPB1, Q5VW60
      UniProtKB/TrEMBL
      F5H212
      Conserved Domains (5) summary
      sd00017
      Location:408 → 428
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:2090 → 2110
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:2088 → 2110
      zf-C2H2; Zinc finger, C2H2 type
      pfam12756
      Location:2116 → 2181
      zf-C2H2_2; C2H2 type zinc-finger (2 copies)
      pfam13465
      Location:2102 → 2127
      zf-H2C2_2; Zinc-finger double domain

    13. XM_047418704.1 → XP_047274660.1  zinc finger protein 40 isoform X8

    14. XM_011514555.4 → XP_011512857.1  zinc finger protein 40 isoform X3

      UniProtKB/TrEMBL
      F5H212
      Conserved Domains (5) summary
      sd00017
      Location:397 → 417
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:2079 → 2099
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:2077 → 2099
      zf-C2H2; Zinc finger, C2H2 type
      pfam12756
      Location:2105 → 2170
      zf-C2H2_2; C2H2 type zinc-finger (2 copies)
      pfam13465
      Location:2091 → 2116
      zf-H2C2_2; Zinc-finger double domain

    RNA

    1. XR_007059258.1 RNA Sequence

    2. XR_007059259.1 RNA Sequence

    3. XR_007059260.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      11875799..12080415
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355279.1 → XP_054211254.1  zinc finger protein 40 isoform X6

    2. XM_054355268.1 → XP_054211243.1  zinc finger protein 40 isoform X1

    3. XM_054355269.1 → XP_054211244.1  zinc finger protein 40 isoform X2

      UniProtKB/Swiss-Prot
      B2RTU3, P15822, Q14122, Q5MPB1, Q5VW60

    4. XM_054355271.1 → XP_054211246.1  zinc finger protein 40 isoform X2

      UniProtKB/Swiss-Prot
      B2RTU3, P15822, Q14122, Q5MPB1, Q5VW60

    5. XM_054355272.1 → XP_054211247.1  zinc finger protein 40 isoform X2

      UniProtKB/Swiss-Prot
      B2RTU3, P15822, Q14122, Q5MPB1, Q5VW60

    6. XM_054355270.1 → XP_054211245.1  zinc finger protein 40 isoform X2

      UniProtKB/Swiss-Prot
      B2RTU3, P15822, Q14122, Q5MPB1, Q5VW60

    7. XM_054355273.1 → XP_054211248.1  zinc finger protein 40 isoform X2

      UniProtKB/Swiss-Prot
      B2RTU3, P15822, Q14122, Q5MPB1, Q5VW60

    8. XM_054355277.1 → XP_054211252.1  zinc finger protein 40 isoform X5

    9. XM_054355278.1 → XP_054211253.1  zinc finger protein 40 isoform X5

    10. XM_054355280.1 → XP_054211255.1  zinc finger protein 40 isoform X7

    11. XM_054355274.1 → XP_054211249.1  zinc finger protein 40 isoform X2

      UniProtKB/Swiss-Prot
      B2RTU3, P15822, Q14122, Q5MPB1, Q5VW60

    12. XM_054355276.1 → XP_054211251.1  zinc finger protein 40 isoform X4

    13. XM_054355275.1 → XP_054211250.1  zinc finger protein 40 isoform X3

    RNA

    1. XR_008487322.1 RNA Sequence

    2. XR_008487323.1 RNA Sequence

    3. XR_008487321.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P15822.4 GenPept UniProtKB/Swiss-Prot:P15822

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