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    HIVEP3 human immunodeficiency virus type I enhancer binding protein 3 [ Homo sapiens (human) ]

    Gene ID: 59269, updated on 10-Sep-2016
    Official Symbol
    HIVEP3provided by HGNC
    Official Full Name
    human immunodeficiency virus type I enhancer binding protein 3provided by HGNC
    Primary source
    HGNC:HGNC:13561
    See related
    Ensembl:ENSG00000127124 HPRD:09442; MIM:606649; Vega:OTTHUMG00000006361
    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]
    Orthologs
    Location:
    1p34
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (41506365..42035925, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (41972036..42501596, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RNA, 5S ribosomal pseudogene 45 Neighboring gene KIAA1429 pseudogene Neighboring gene endothelin 2 Neighboring gene heterogeneous nuclear ribonucleoprotein F pseudogene 1 Neighboring gene guanylate cyclase activator 2B

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    A genome-wide association study (GWAS) for bronchopulmonary dysplasia.
    NHGRI GWA Catalog
    Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.
    NHGRI GWA Catalog
    • Delta-Notch Signaling Pathway, organism-specific biosystem (from WikiPathways)
      Delta-Notch Signaling Pathway, organism-specific biosystemThere are 4 Notch receptors in humans (Notch 1-4) that bind to a family of 5 ligands (Jagged 1 and 2 and Delta-like 1-3). The Notch receptors are expressed on the cell surface as heterodimeric protei...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ16752, KIAA1555

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    transcription factor activity, sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    transcription regulatory region DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    multicellular organism development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    skeletal muscle cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    transcription from RNA polymerase II promoter IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Preferred Names
    transcription factor HIVEP3
    Names
    ZAS family, member 3
    kappa-B and V(D)J recombination signal sequences-binding protein
    kappa-binding protein 1
    zinc finger protein ZAS3

    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_030026.1 RefSeqGene

      Range
      122219..534561
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001127714.2NP_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)
      AC119676, AI082114, AL445933, BC152563
      Consensus CDS
      CCDS44124.1
      UniProtKB/Swiss-Prot
      Q5T1R4
      Related
      ENSP00000361665, OTTHUMP00000007073, ENST00000372584, OTTHUMT00000016977
      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_024503.4NP_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)
      AF278765, AI082114, AL445933, BC152563
      Consensus CDS
      CCDS463.1
      UniProtKB/Swiss-Prot
      Q5T1R4
      Related
      ENSP00000361664, OTTHUMP00000007074, ENST00000372583, OTTHUMT00000016978
      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

    RNA

    1. NR_038260.1 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)
      BC040942, BG213993, DA093318
      Related
      ENST00000491442
    2. NR_038261.1 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)
      BC046120, BG213993
      Related
      ENST00000489103

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

      Range
      41506365..42035925 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011541884.2XP_011540186.1  

      See identical proteins and their annotated locations for XP_011540186.1

      UniProtKB/Swiss-Prot
      Q5T1R4
      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. XM_017001992.1XP_016857481.1  

      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
    3. XM_017001993.1XP_016857482.1  

      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
    4. XM_017001994.1XP_016857483.1  

      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
    5. XM_011541885.2XP_011540187.1  

      Conserved Domains (3) summary
      pfam13465
      Location:207231
      zf-H2C2_2; Zinc-finger double domain
      pfam13912
      Location:642668
      zf-C2H2_6; C2H2-type zinc finger
      sd00017
      Location:194213
      ZF_C2H2; C2H2 Zn finger [structural motif]
    6. XM_011541887.2XP_011540189.1  

      Conserved Domains (3) summary
      pfam13465
      Location:207231
      zf-H2C2_2; Zinc-finger double domain
      pfam13912
      Location:642668
      zf-C2H2_6; C2H2-type zinc finger
      sd00017
      Location:194213
      ZF_C2H2; C2H2 Zn finger [structural motif]
    7. XM_011541886.2XP_011540188.1  

      Conserved Domains (3) summary
      pfam13465
      Location:207231
      zf-H2C2_2; Zinc-finger double domain
      pfam13912
      Location:642668
      zf-C2H2_6; C2H2-type zinc finger
      sd00017
      Location:194213
      ZF_C2H2; C2H2 Zn finger [structural motif]

    RNA

    1. XR_001737357.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      42088411..42618665 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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