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VEZF1 vascular endothelial zinc finger 1 [ Homo sapiens (human) ]

Gene ID: 7716, updated on 5-Mar-2024

Summary

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Official Symbol
VEZF1provided by HGNC
Official Full Name
vascular endothelial zinc finger 1provided by HGNC
Primary source
HGNC:HGNC:12949
See related
Ensembl:ENSG00000136451 MIM:606747; AllianceGenome:HGNC:12949
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
DB1; CMD1OO; ZNF161
Summary
Transcriptional regulatory proteins containing tandemly repeated zinc finger domains are thought to be involved in both normal and abnormal cellular proliferation and differentiation. ZNF161 is a C2H2-type zinc finger protein (Koyano-Nakagawa et al., 1994 [PubMed 8035792]). See MIM 603971 for general information on zinc finger proteins.[supplied by OMIM, Sep 2008]
Expression
Ubiquitous expression in thyroid (RPKM 19.6), endometrium (RPKM 18.2) and 25 other tissues See more
Orthologs
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Genomic context

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See VEZF1 in Genome Data Viewer
Location:
17q22
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (57971552..57988254, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (58845554..58862256, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (56048913..56065615, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:55923593-55924200 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:55927391-55927900 Neighboring gene mitochondrial ribosomal protein S23 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:55937722-55938572 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:55938573-55939422 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:55939423-55940272 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:55945275-55946474 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:55951125-55951765 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:55951766-55952407 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:55953049-55953690 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:55953691-55954331 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:55956376-55956928 Neighboring gene CUE domain containing 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:55958036-55958588 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:55958589-55959141 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:55962626-55963126 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:55969929-55970670 Neighboring gene Sharpr-MPRA regulatory region 2303 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:55977227-55977897 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12450 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12451 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12452 Neighboring gene uncharacterized LOC107985065 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:55991179-55991679 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr17:56004573-56005088 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12454 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12453 Neighboring gene Sharpr-MPRA regulatory region 4150 Neighboring gene Sharpr-MPRA regulatory region 6256 Neighboring gene NANOG hESC enhancer GRCh37_chr17:56029838-56030339 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8753 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:56043109-56043617 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:56046907-56047067 Neighboring gene uncharacterized LOC101929185 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8755 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8754 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8756 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12455 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12456 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12457 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:56082218-56083417 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12458 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12459 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:56084242-56084960 Neighboring gene serine and arginine rich splicing factor 1 Neighboring gene uncharacterized LOC105371840 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:56129666-56130865

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. VEZF1 loss-of-function mutation underlying familial dilated cardiomyopathy. Shi HY, et al. Eur J Med Genet, 2023 Mar. PMID 36657711
  2. Functional interaction between RhoB and the transcription factor DB1. Lebowitz PF, et al. Cell Adhes Commun, 1998. PMID 9865462
  3. Molecular cloning of a novel human cDNA encoding a zinc finger protein that binds to the interleukin-3 promoter. Koyano-Nakagawa N, et al. Mol Cell Biol, 1994 Aug. PMID 8035792, Free PMC Article
  4. Gene mutations in sporadic lymphangioleiomyomatosis and genotype-phenotype correlation analysis. Huang J, et al. BMC Pulm Med, 2022 Sep 18. PMID 36117164, Free PMC Article
  5. TRIM29 regulates the SETBP1/SET/PP2A axis via transcription factor VEZF1 to promote progression of ovarian cancer. Qiao HY, et al. Cancer Lett, 2022 Mar 31. PMID 34973391

See all (37) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. VEZF1, destabilized by STUB1, affects cellular growth and metastasis of hepatocellular carcinoma by transcriptionally regulating PAQR4.
    Title: VEZF1, destabilized by STUB1, affects cellular growth and metastasis of hepatocellular carcinoma by transcriptionally regulating PAQR4.
  2. VEZF1 loss-of-function mutation underlying familial dilated cardiomyopathy.
    Title: VEZF1 loss-of-function mutation underlying familial dilated cardiomyopathy.
  3. Gene mutations in sporadic lymphangioleiomyomatosis and genotype-phenotype correlation analysis.
    Title: Gene mutations in sporadic lymphangioleiomyomatosis and genotype-phenotype correlation analysis.
  4. TRIM29 regulates the SETBP1/SET/PP2A axis via transcription factor VEZF1 to promote progression of ovarian cancer.
    Title: TRIM29 regulates the SETBP1/SET/PP2A axis via transcription factor VEZF1 to promote progression of ovarian cancer.
  5. VEZF1-guanine quadruplex DNA interaction regulates alternative polyadenylation and detyrosinase activity of VASH1.
    Title: VEZF1-guanine quadruplex DNA interaction regulates alternative polyadenylation and detyrosinase activity of VASH1.
  6. Vezf1 regulates cardiac structure and contractile function.
    Title: Vezf1 regulates cardiac structure and contractile function.
  7. find examples of genes in which Vezf1 binding sites are located near cassette exons, and in which loss of Vezf1 leads to a change in the relative abundance of alternatively spliced messages
    Title: Vezf1 protein binding sites genome-wide are associated with pausing of elongating RNA polymerase II.
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

Associated conditions

Description Tests
Cardiomyopathy, dilated, 100
MedGen: C5830291 OMIM: 620247 GeneReviews: Not available
not available

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

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 activator activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
 PubMed 
enables DNA-binding transcription activator activity, RNA polymerase II-specific IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
  
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in angiogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in cellular defense response TAS
Traceable Author Statement
more info
 PubMed 
involved_in endothelial cell development IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of endothelial cell differentiation IMP
Inferred from Mutant Phenotype
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 nucleoplasm IDA
Inferred from Direct Assay
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
vascular endothelial zinc finger 1
Names
putative transcription factor DB1
zinc finger protein 161

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_001330393.2 → NP_001317322.1  vascular endothelial zinc finger 1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC015813, BU729102
    Consensus CDS
    CCDS82169.1
    UniProtKB/TrEMBL
    J3QSH4

  2. NM_007146.3 → NP_009077.2  vascular endothelial zinc finger 1 isoform 1

    See identical proteins and their annotated locations for NP_009077.2

    Status: VALIDATED

    Source sequence(s)
    AA195154, BG718897, BX648862, D28118
    Consensus CDS
    CCDS32687.1
    UniProtKB/Swiss-Prot
    Q14119
    Related
    ENSP00000462337.1, ENST00000581208.2
    Conserved Domains (2) summary
    sd00017
    Location:176 → 196
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:188 → 213
    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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    57971552..57988254 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005257643.2 → XP_005257700.1  vascular endothelial zinc finger 1 isoform X1

    Conserved Domains (2) summary
    sd00017
    Location:176 → 196
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:188 → 213
    zf-H2C2_2; Zinc-finger double domain

  2. XM_017025018.2 → XP_016880507.1  vascular endothelial zinc finger 1 isoform X3

    UniProtKB/TrEMBL
    J3QSH4
    Related
    ENSP00000464687.1, ENST00000584396.5
    Conserved Domains (2) summary
    sd00017
    Location:167 → 187
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:179 → 204
    zf-H2C2_2; Zinc-finger double domain

  3. XM_047436662.1 → XP_047292618.1  vascular endothelial zinc finger 1 isoform X2

  4. XM_047436665.1 → XP_047292621.1  vascular endothelial zinc finger 1 isoform X3

    UniProtKB/TrEMBL
    J3QSH4

  5. XM_047436664.1 → XP_047292620.1  vascular endothelial zinc finger 1 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    58845554..58862256 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054317069.1 → XP_054173044.1  vascular endothelial zinc finger 1 isoform X1

  2. XM_054317070.1 → XP_054173045.1  vascular endothelial zinc finger 1 isoform X2

  3. XM_054317072.1 → XP_054173047.1  vascular endothelial zinc finger 1 isoform X3

    UniProtKB/TrEMBL
    J3QSH4

  4. XM_054317071.1 → XP_054173046.1  vascular endothelial zinc finger 1 isoform X3

    UniProtKB/TrEMBL
    J3QSH4
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q14119.2 GenPept UniProtKB/Swiss-Prot:Q14119

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