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

    Gene ID: 25925, updated on 2-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
    mouse all
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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 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. Zinc finger protein 521, a new player in bone formation. Hesse E, et al. Ann N Y Acad Sci, 2010 Mar. PMID 20392215
    2. 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
    3. 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
    4. 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
    5. 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

    See all (45) 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)

    Genotypes

    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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