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ZNF521 zinc finger protein 521 [ Homo sapiens (human) ]

Gene ID: 25925, updated on 27-Nov-2024

Summary

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Official Symbol
ZNF521provided by HGNC
Official Full Name
zinc finger protein 521provided by HGNC
Primary source
HGNC:HGNC:24605
See related
Ensembl:ENSG00000198795 MIM:610974; AllianceGenome:HGNC:24605
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
EHZF; Evi3
Summary
Enables protein domain specific binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within neuron fate commitment. Located in nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in ovary (RPKM 5.8), spleen (RPKM 5.0) and 22 other tissues See more
Orthologs
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Genomic context

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See ZNF521 in Genome Data Viewer
Location:
18q11.2
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (25061924..25352166, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (25256507..25546798, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (22641888..22932130, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak3077 silencer Neighboring gene VISTA enhancer hs1180 Neighboring gene uncharacterized LOC107985141 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:22627867-22628447 Neighboring gene WW domain binding protein 2 pseudogene 1 Neighboring gene VISTA enhancer hs367 Neighboring gene uncharacterized LOC124904269 Neighboring gene VISTA enhancer hs1027 Neighboring gene MPRA-validated peak3078 silencer Neighboring gene uncharacterized LOC124904270 Neighboring gene VISTA enhancer hs1653 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13173 Neighboring gene uncharacterized LOC105372031 Neighboring gene VISTA enhancer hs369 Neighboring gene MPRA-validated peak3079 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9370 Neighboring gene MPRA-validated peak3080 silencer Neighboring gene MPRA-validated peak3082 silencer Neighboring gene VISTA enhancer hs1544 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13174 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr18:23112411-23113610 Neighboring gene MPRA-validated peak3083 silencer Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr18:23255307-23255935 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13175 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:23407561-23408062 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:23408063-23408562 Neighboring gene VISTA enhancer hs1566 Neighboring gene RNA, 7SL, cytoplasmic 97, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13176 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:23531372-23531568 Neighboring gene uncharacterized LOC124904271

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. Reduced subcutaneous adipogenesis in human hypertrophic obesity is linked to senescent precursor cells. Gustafson B, et al. Nat Commun, 2019 Jun 21. PMID 31227697, Free PMC Article
  2. Validation of a novel shotgun proteomic workflow for the discovery of protein-protein interactions: focus on ZNF521. Bernaudo F, et al. J Proteome Res, 2015 Apr 3. PMID 25774781
  3. Critical role of zinc finger protein 521 in the control of growth, clonogenicity and tumorigenic potential of medulloblastoma cells. Spina R, et al. Oncotarget, 2013 Aug. PMID 23907569, Free PMC Article
  4. ZNF521 Has an Inhibitory Effect on the Adipogenic Differentiation of Human Adipose-Derived Mesenchymal Stem Cells. Chiarella E, et al. Stem Cell Rev Rep, 2018 Dec. PMID 29938352
  5. ZNF521 Represses Osteoblastic Differentiation in Human Adipose-Derived Stem Cells. Chiarella E, et al. Int J Mol Sci, 2018 Dec 18. PMID 30567301, Free PMC Article

See all (46) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Zinc Finger 521 Modulates the Nrf2-Notch Signaling Pathway in Human Ovarian Carcinoma.
    Title: Zinc Finger 521 Modulates the Nrf2-Notch Signaling Pathway in Human Ovarian Carcinoma.
  2. Enhanced ZNF521 expression induces an aggressive phenotype in human ovarian carcinoma cell lines.
    Title: Enhanced ZNF521 expression induces an aggressive phenotype in human ovarian carcinoma cell lines.
  3. ZNF521 Enhances MLL-AF9-Dependent Hematopoietic Stem Cell Transformation in Acute Myeloid Leukemias by Altering the Gene Expression Landscape.
    Title: ZNF521 Enhances MLL-AF9-Dependent Hematopoietic Stem Cell Transformation in Acute Myeloid Leukemias by Altering the Gene Expression Landscape.
  4. Regulatory Role of microRNAs Targeting the Transcription Co-Factor ZNF521 in Normal Tissues and Cancers.
    Title: Regulatory Role of microRNAs Targeting the Transcription Co-Factor ZNF521 in Normal Tissues and Cancers.
  5. The stem cell-associated transcription co-factor, ZNF521, interacts with GLI1 and GLI2 and enhances the activity of the Sonic hedgehog pathway.
    Title: The stem cell-associated transcription co-factor, ZNF521, interacts with GLI1 and GLI2 and enhances the activity of the Sonic hedgehog pathway.
  6. Zinc finger protein 521 can arrest the apoptosis and enhance the proliferation, migration, and invasion of gastric cancer cells via regulating microRNA-204-5p. Our study may provide novel clues for the treatment of patients with gastric cancer.
    Title: Zinc Finger Protein 521, Negatively Regulated by MicroRNA-204-5p, Promotes Proliferation, Motility and Invasion of Gastric Cancer Cells.
  7. these results confirm a role for ZNF521 as a key negative regulator of adipocyte differentiation of Adipose-Derived Mesenchymal Stem Cells.
    Title: ZNF521 Has an Inhibitory Effect on the Adipogenic Differentiation of Human Adipose-Derived Mesenchymal Stem Cells.
  8. Examination of early adipogenic signals in subcutaneous adipose tissue identifies ZNF521 as a key regulator of maintaining human adipose stromal vascular fraction cells proliferative and uncommitted. Silencing ZNF521 increases BMP4 and nuclear import of the adipogenic marker and PPARgamma transcriptional activator ZNF423.
    Title: Reduced subcutaneous adipogenesis in human hypertrophic obesity is linked to senescent precursor cells.
  9. Together with our previous findings, these results show that ZNF521 inhibits both adipocytic and osteoblastic maturation in Human adipose-derived stem cells (hADSCs) and suggest that its expression may contribute to maintaining the immature properties of hADSCs
    Title: ZNF521 Represses Osteoblastic Differentiation in Human Adipose-Derived Stem Cells.
  10. Performance metrics were used to select SNPs in stage 1, which were then genotyped to another dataset (stage 2). Four SNPs (CPXM2 rs2362967, APOC1 rs4420638, ZNF521 rs7230380, and rs12965520) were identified for LOAD by both traditional P-values (without correcting for multiple tests) and performance metrics.
    Title: Performance Metrics for Selecting Single Nucleotide Polymorphisms in Late-onset Alzheimer's Disease.
Submit: New GeneRIF Correction See all GeneRIFs (22)

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
A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels.
EBI GWAS Catalog
Genome-wide association study of selenium concentrations.
EBI GWAS Catalog
Genome-wide mapping for clinically relevant predictors of lamotrigine- and phenytoin-induced hypersensitivity reactions.
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)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC142182, MGC142208, DKFZp564D0764

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
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 protein domain specific binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in neuron fate commitment IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
  
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
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
zinc finger protein 521
Names
LYST-interacting protein 3
early hematopoietic zinc finger protein

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_001308225.2 → NP_001295154.1  zinc finger protein 521 isoform 2

    See identical proteins and their annotated locations for NP_001295154.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon in the 5' coding region, resulting in the use of a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC104961, AC105114, AC110603, BC032869, BC113622, CA415157, DA102816
    Consensus CDS
    CCDS77167.1
    UniProtKB/TrEMBL
    A8KAK2, J3KTI4
    Related
    ENSP00000463000.1, ENST00000584787.5
    Conserved Domains (2) summary
    COG5236
    Location:565 → 744
    COG5236; Uncharacterized conserved protein, contains RING Zn-finger [General function prediction only]
    sd00017
    Location:416 → 436
    ZF_C2H2; C2H2 Zn finger [structural motif]

  2. NM_015461.3 → NP_056276.1  zinc finger protein 521 isoform 1

    See identical proteins and their annotated locations for NP_056276.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AF141339, AK027354, BC113622, DA102816
    Consensus CDS
    CCDS32806.1
    UniProtKB/Swiss-Prot
    B0YJB7, Q8IXI0, Q8TES6, Q96K83, Q9C065, Q9HAL5, Q9UFK4
    UniProtKB/TrEMBL
    A8KAK2
    Related
    ENSP00000354794.3, ENST00000361524.8
    Conserved Domains (2) summary
    COG5048
    Location:128 → 216
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:120 → 140
    ZF_C2H2; C2H2 Zn finger [structural motif]

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

  1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    25061924..25352166 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017025697.3 → XP_016881186.1  zinc finger protein 521 isoform X3

    UniProtKB/TrEMBL
    A8KAK2

  2. XM_011525909.4 → XP_011524211.1  zinc finger protein 521 isoform X1

    UniProtKB/TrEMBL
    A8KAK2
    Conserved Domains (2) summary
    COG5048
    Location:128 → 216
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:120 → 140
    ZF_C2H2; C2H2 Zn finger [structural motif]

  3. XM_017025698.3 → XP_016881187.1  zinc finger protein 521 isoform X4

    UniProtKB/TrEMBL
    A8KAK2, J3KTI4
    Conserved Domains (2) summary
    COG5236
    Location:565 → 744
    COG5236; Uncharacterized conserved protein, contains RING Zn-finger [General function prediction only]
    sd00017
    Location:416 → 436
    ZF_C2H2; C2H2 Zn finger [structural motif]

  4. XM_047437473.1 → XP_047293429.1  zinc finger protein 521 isoform X4

    UniProtKB/TrEMBL
    J3KTI4

  5. XM_011525911.3 → XP_011524213.1  zinc finger protein 521 isoform X4

    See identical proteins and their annotated locations for XP_011524213.1

    UniProtKB/TrEMBL
    A8KAK2, J3KTI4
    Conserved Domains (2) summary
    COG5236
    Location:565 → 744
    COG5236; Uncharacterized conserved protein, contains RING Zn-finger [General function prediction only]
    sd00017
    Location:416 → 436
    ZF_C2H2; C2H2 Zn finger [structural motif]

  6. XM_047437472.1 → XP_047293428.1  zinc finger protein 521 isoform X4

    UniProtKB/TrEMBL
    J3KTI4

  7. XM_024451141.2 → XP_024306909.1  zinc finger protein 521 isoform X4

    UniProtKB/TrEMBL
    A8KAK2, J3KTI4
    Conserved Domains (2) summary
    COG5236
    Location:565 → 744
    COG5236; Uncharacterized conserved protein, contains RING Zn-finger [General function prediction only]
    sd00017
    Location:416 → 436
    ZF_C2H2; C2H2 Zn finger [structural motif]

  8. XM_047437474.1 → XP_047293430.1  zinc finger protein 521 isoform X5

  9. XM_011525910.4 → XP_011524212.1  zinc finger protein 521 isoform X2

    UniProtKB/TrEMBL
    H7BYU6
    Related
    ENSP00000382352.2, ENST00000399425.6
    Conserved Domains (2) summary
    COG5048
    Location:128 → 216
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:120 → 140
    ZF_C2H2; C2H2 Zn finger [structural motif]

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    25256507..25546798 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054318496.1 → XP_054174471.1  zinc finger protein 521 isoform X3

  2. XM_054318494.1 → XP_054174469.1  zinc finger protein 521 isoform X1

  3. XM_054318501.1 → XP_054174476.1  zinc finger protein 521 isoform X4

    UniProtKB/TrEMBL
    J3KTI4

  4. XM_054318499.1 → XP_054174474.1  zinc finger protein 521 isoform X4

    UniProtKB/TrEMBL
    J3KTI4

  5. XM_054318500.1 → XP_054174475.1  zinc finger protein 521 isoform X4

    UniProtKB/TrEMBL
    J3KTI4

  6. XM_054318498.1 → XP_054174473.1  zinc finger protein 521 isoform X4

    UniProtKB/TrEMBL
    J3KTI4

  7. XM_054318497.1 → XP_054174472.1  zinc finger protein 521 isoform X4

    UniProtKB/TrEMBL
    J3KTI4

  8. XM_054318502.1 → XP_054174477.1  zinc finger protein 521 isoform X5

  9. XM_054318495.1 → XP_054174470.1  zinc finger protein 521 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96K83.1 GenPept UniProtKB/Swiss-Prot:Q96K83

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