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

    Gene ID: 7716, updated on 5-May-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
    mouse all
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    Genomic context

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    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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