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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
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Genomic context

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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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