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

Gene ID: 59269, updated on 2-Oct-2018

Summary

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 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]
Expression
Ubiquitous expression in skin (RPKM 2.3), brain (RPKM 1.1) and 24 other tissues See more
Orthologs

Genomic context

See HIVEP3 in Genome Data Viewer
Location:
1p34.2
Exon count:
17
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 vir like m6A methyltransferase associated pseudogene Neighboring gene endothelin 2 Neighboring gene heterogeneous nuclear ribonucleoprotein F pseudogene 1 Neighboring gene guanylate cyclase activator 2B

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ16752, KIAA1555

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific NAS
Non-traceable Author Statement
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
positive regulation of transcription, DNA-templated IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
skeletal muscle cell differentiation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    ENSP00000361665.1, OTTHUMP00000007073, ENST00000372584.5, 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
    ENSP00000361664.1, OTTHUMP00000007074, ENST00000372583.5, OTTHUMT00000016978
    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_038260.1 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
    ENST00000491442.5
  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
    ENST00000489103.5

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011541884.2XP_011540186.1  transcription factor HIVEP3 isoform X1

    See identical proteins and their annotated locations for XP_011540186.1

    UniProtKB/Swiss-Prot
    Q5T1R4
    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
  2. XM_017001992.1XP_016857481.1  transcription factor HIVEP3 isoform X1

    UniProtKB/Swiss-Prot
    Q5T1R4
    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
  3. XM_024448789.1XP_024304557.1  transcription factor HIVEP3 isoform X1

    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
  4. XM_017001993.2XP_016857482.1  transcription factor HIVEP3 isoform X1

    UniProtKB/Swiss-Prot
    Q5T1R4
    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
  5. XM_017001994.2XP_016857483.1  transcription factor HIVEP3 isoform X2

    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
  6. XM_011541885.3XP_011540187.1  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
  7. XM_011541887.3XP_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
  8. XM_011541886.3XP_011540188.1  transcription factor HIVEP3 isoform X4

    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_001737357.2 RNA Sequence

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