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    HIVEP3 HIVEP zinc finger 3 [ Homo sapiens (human) ]

    Gene ID: 59269, updated on 9-Dec-2024

    Summary

    Official Symbol
    HIVEP3provided by HGNC
    Official Full Name
    HIVEP zinc finger 3provided by HGNC
    Primary source
    HGNC:HGNC:13561
    See related
    Ensembl:ENSG00000127124 MIM:606649; AllianceGenome:HGNC:13561
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    KRC; KBP1; SHN3; ZAS3; KBP-1; ZNF40C; Schnurri-3
    Summary
    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]
    Expression
    Ubiquitous expression in skin (RPKM 2.3), brain (RPKM 1.1) and 24 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See HIVEP3 in Genome Data Viewer
    Location:
    1p34.2
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (41506365..42035934, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (41376570..41906502, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (41972036..42501605, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:41942603-41943309 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:41947626-41948612 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:41951461-41952660 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 866 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:41959702-41960232 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:41961826-41962374 Neighboring gene RNA, 5S ribosomal pseudogene 45 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:41968132-41968632 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:41978699-41979199 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 750 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 867 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:41987015-41987609 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:42006631-42006845 Neighboring gene vir like m6A methyltransferase associated pseudogene Neighboring gene endothelin 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 868 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 869 Neighboring gene uncharacterized LOC128125817 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 751 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:42136496-42137086 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:42138269-42138858 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 870 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 871 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:42156217-42156717 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 872 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 873 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 753 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 875 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 874 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 752 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 876 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 877 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 878 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:42198929-42199430 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 879 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 880 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 881 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 882 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 883 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 884 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 885 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 887 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 888 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 886 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:42289027-42289544 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 754 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:42353785-42353994 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 889 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 890 Neighboring gene Sharpr-MPRA regulatory region 8090 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 755 Neighboring gene uncharacterized LOC124904160 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 891 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 756 Neighboring gene uncharacterized LOC124904161 Neighboring gene heterogeneous nuclear ribonucleoprotein F pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2019-01-23)

    ClinGen Genome Curation Page
    Haploinsufficency

    Little evidence for dosage pathogenicity (Last evaluated 2019-01-23)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    A genome-wide association study (GWAS) for bronchopulmonary dysplasia.
    EBI GWAS Catalog
    Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ16752, KIAA1555

    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 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 
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    transcription factor HIVEP3
    Names
    ZAS family, member 3
    human immunodeficiency virus type I enhancer binding protein 3
    kappa-B and V(D)J recombination signal sequences-binding protein
    kappa-binding protein 1
    zinc finger protein ZAS3

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_030026.2 RefSeqGene

      Range
      122004..534561
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001127714.3NP_001121186.1  transcription factor HIVEP3 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 5' UTR and uses an alternate splice site in the 3' coding region, compared to variant 1. The resulting isoform (b) is shorter than isoform a.
      Source sequence(s)
      AC105268, AC119676, AI082114, AL445933, BC152563
      Consensus CDS
      CCDS44124.1
      UniProtKB/Swiss-Prot
      Q5T1R4
      Related
      ENSP00000361665.1, ENST00000372584.5
      Conserved Domains (3) summary
      sd00017
      Location:194214
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:17541776
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:207231
      zf-H2C2_2; Zinc-finger double domain
    2. NM_024503.5NP_078779.2  transcription factor HIVEP3 isoform a

      See identical proteins and their annotated locations for NP_078779.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC105268, AF278765, AI082114, AL445933, BC152563
      Consensus CDS
      CCDS463.1
      UniProtKB/Swiss-Prot
      A7YY91, Q5T1R4, Q5T1R5, Q9BZS0, Q9HCL7
      Related
      ENSP00000361664.1, ENST00000372583.6
      Conserved Domains (4) summary
      sd00017
      Location:194214
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:17541776
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:207231
      zf-H2C2_2; Zinc-finger double domain
      cl26464
      Location:18772395
      Atrophin-1; Atrophin-1 family

    RNA

    1. NR_038260.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks all but the first exon and contains two alternate 3' exons, compared to variant 1. This variant is represented as non-coding because it lacks the coding region, including the translational start codon, found in variant 1.
      Source sequence(s)
      AC105268, BC040942, BG213993, DA093318
      Related
      ENST00000491442.5
    2. NR_038261.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks all but the first exon, and contains an alternate 5' and two alternate 3' exons, compared to variant 1. This variant is represented as non-coding because it lacks the coding region, including the translational start codon, found in variant 1.
      Source sequence(s)
      AL158216, BC046120, BG213993
      Related
      ENST00000489103.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      41506365..42035934 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047426877.1XP_047282833.1  transcription factor HIVEP3 isoform X4

    2. XM_047426875.1XP_047282831.1  transcription factor HIVEP3 isoform X1

    3. XM_011541885.4XP_011540187.1  transcription factor HIVEP3 isoform X2

      Conserved Domains (2) summary
      sd00017
      Location:194214
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:207231
      zf-H2C2_2; Zinc-finger double domain
    4. XM_011541887.4XP_011540189.1  transcription factor HIVEP3 isoform X5

      Conserved Domains (2) summary
      sd00017
      Location:194214
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:207231
      zf-H2C2_2; Zinc-finger double domain
    5. XM_011541886.4XP_011540188.1  transcription factor HIVEP3 isoform X3

      Conserved Domains (2) summary
      sd00017
      Location:194214
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:207231
      zf-H2C2_2; Zinc-finger double domain

    RNA

    1. XR_007062478.1 RNA Sequence

    2. XR_007062479.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      41376570..41906502 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054338008.1XP_054193983.1  transcription factor HIVEP3 isoform X4

    2. XM_054338005.1XP_054193980.1  transcription factor HIVEP3 isoform X1

    3. XM_054338006.1XP_054193981.1  transcription factor HIVEP3 isoform X2

    4. XM_054338009.1XP_054193984.1  transcription factor HIVEP3 isoform X5

    5. XM_054338007.1XP_054193982.1  transcription factor HIVEP3 isoform X3

    RNA

    1. XR_008486133.1 RNA Sequence

    2. XR_008486134.1 RNA Sequence