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

Gene ID: 59269, updated on 17-Sep-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
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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 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)

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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.

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

    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