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

Summary

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

Location:: 17q22

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (57971552..57988254, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (58845554..58862256, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (56048913..56065615, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SPOP downregulation promotes bladder cancer progression based on cancer cell-macrophage crosstalk via STAT3/CCL2/IL-6 axis and is regulated by VEZF1.
Title: SPOP downregulation promotes bladder cancer progression based on cancer cell-macrophage crosstalk via STAT3/CCL2/IL-6 axis and is regulated by VEZF1.
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.
VEZF1 loss-of-function mutation underlying familial dilated cardiomyopathy.
Title: VEZF1 loss-of-function mutation underlying familial dilated cardiomyopathy.
Gene mutations in sporadic lymphangioleiomyomatosis and genotype-phenotype correlation analysis.
Title: Gene mutations in sporadic lymphangioleiomyomatosis and genotype-phenotype correlation analysis.
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.
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.
Vezf1 regulates cardiac structure and contractile function.
Title: Vezf1 regulates cardiac structure and contractile function.
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D17S1627 (e-PCR)
- UniSTS:153641

RH47497 (e-PCR)
- UniSTS:65123

D17S1665 (e-PCR)
- UniSTS:67243

D17S1375E (e-PCR)
- UniSTS:31677

Vezf1 (e-PCR), detects polymorphism
- UniSTS:496840

RH11817 (e-PCR)
- UniSTS:85978

SHGC-31081 (e-PCR)
- UniSTS:183778

A002Q40 (e-PCR)
- UniSTS:41965

RH39292 (e-PCR)
- UniSTS:87803

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)

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
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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

57971552..57988254 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
XM_047436662.1 → XP_047292618.1 vascular endothelial zinc finger 1 isoform X2
XM_047436665.1 → XP_047292621.1 vascular endothelial zinc finger 1 isoform X3

UniProtKB/TrEMBL

J3QSH4
XM_047436664.1 → XP_047292620.1 vascular endothelial zinc finger 1 isoform X2

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

58845554..58862256 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054317069.1 → XP_054173044.1 vascular endothelial zinc finger 1 isoform X1
XM_054317070.1 → XP_054173045.1 vascular endothelial zinc finger 1 isoform X2
XM_054317072.1 → XP_054173047.1 vascular endothelial zinc finger 1 isoform X3

UniProtKB/TrEMBL

J3QSH4
XM_054317071.1 → XP_054173046.1 vascular endothelial zinc finger 1 isoform X3

UniProtKB/TrEMBL

J3QSH4