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    ZNF451 zinc finger protein 451 [ Homo sapiens (human) ]

    Gene ID: 26036, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ZNF451provided by HGNC
    Official Full Name
    zinc finger protein 451provided by HGNC
    Primary source
    HGNC:HGNC:21091
    See related
    Ensembl:ENSG00000112200 MIM:615708; AllianceGenome:HGNC:21091
    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
    ZATT; COASTER; dJ417I1.1
    Summary
    Enables SUMO ligase activity; transcription corepressor activity; and transcription regulator inhibitor activity. Involved in negative regulation of transcription initiation by RNA polymerase II; negative regulation of transforming growth factor beta receptor signaling pathway; and protein sumoylation. Located in PML body. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in bone marrow (RPKM 8.1), testis (RPKM 5.2) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZNF451 in Genome Data Viewer
    Location:
    6p12.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (57090188..57170305)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (56929190..57009330)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (56954986..57035103)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:56895065-56895565 Neighboring gene Sharpr-MPRA regulatory region 7771 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24708 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:56912079-56912956 Neighboring gene mitochondrial ribosomal protein L30 pseudogene 1 Neighboring gene KIAA1586 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:56954672-56955554 Neighboring gene ZNF451 regulatory antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17302 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:57037271-57038028 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17304 Neighboring gene BAG cochaperone 2 Neighboring gene RAB23, member RAS oncogene family Neighboring gene DNA primase subunit 2 Neighboring gene long intergenic non-protein coding RNA 3001

    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. Stress-induced nuclear condensation of NELF drives transcriptional downregulation. Rawat P, et al. Mol Cell, 2021 Mar 4. PMID 33548202, Free PMC Article
    2. Genome-Wide CRISPR Screens Reveal ZATT as a Synthetic Lethal Target of TOP2-Poison Etoposide That Can Act in a TDP2-Independent Pathway. Park JM, et al. Int J Mol Sci, 2023 Mar 31. PMID 37047518, Free PMC Article
    3. A new vertebrate SUMO enzyme family reveals insights into SUMO-chain assembly. Eisenhardt N, et al. Nat Struct Mol Biol, 2015 Dec. PMID 26524493
    4. LncRNA BC032020 suppresses the survival of human pancreatic ductal adenocarcinoma cells by targeting ZNF451. Zhang Z, et al. Int J Oncol, 2018 Apr. PMID 29532883, Free PMC Article
    5. ZATT (ZNF451)-mediated resolution of topoisomerase 2 DNA-protein cross-links. Schellenberg MJ, et al. Science, 2017 Sep 29. PMID 28912134, Free PMC Article

    See all (75) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ZNF451 favors triple-negative breast cancer progression by enhancing SLUG-mediated CCL5 transcriptional expression.
      Title: ZNF451 favors triple-negative breast cancer progression by enhancing SLUG-mediated CCL5 transcriptional expression.
    2. Exosomal circZNF451 restrains anti-PD1 treatment in lung adenocarcinoma via polarizing macrophages by complexing with TRIM56 and FXR1.
      Title: Exosomal circZNF451 restrains anti-PD1 treatment in lung adenocarcinoma via polarizing macrophages by complexing with TRIM56 and FXR1.
    3. Stress-induced nuclear condensation of NELF drives transcriptional downregulation.
      Title: Stress-induced nuclear condensation of NELF drives transcriptional downregulation.
    4. The findings of this study indicate that BC032020 suppresses the survival of PDAC cells by inhibiting ZNF451 expression.
      Title: LncRNA BC032020 suppresses the survival of human pancreatic ductal adenocarcinoma cells by targeting ZNF451.
    5. These findings uncover a ZNF451-TDP2-catalyzed and SUMO2-modulated pathway for direct resolution of TOP2 cleavage complex.
      Title: ZATT (ZNF451)-mediated resolution of topoisomerase 2 DNA-protein cross-links.
    6. The authors show that ZNF451 is SUMO2 specific and that SUMO modification of ZNF451 may contribute to activity by providing a second molecule of SUMO that interacts with E2.
      Title: Structural basis for catalytic activation by the human ZNF451 SUMO E3 ligase.
    7. ZNF451 acts as a transcriptional corepressor for Smad3/4 and negatively regulates TGF-beta signaling.
      Title: Zinc finger protein 451 is a novel Smad corepressor in transforming growth factor-β signaling.
    8. Data describe ZNF451, a nuclear protein that can be associated with promyelocytic leukemia bodies, and exerts its effects via SUMO modification machinery and trafficking of transcription regulators between promyelocytic leukemia bodies and nucleoplasm.
      Title: ZNF451 is a novel PML body- and SUMO-associated transcriptional coregulator.
    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

    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

    Homology

    Clone Names

    • FLJ23421, FLJ53246, FLJ90693, KIAA0576, KIAA1702, MGC26701

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables SUMO ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables SUMO ligase activity 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 
    enables sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables transcription corepressor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables transcription corepressor activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables transcription regulator inhibitor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of transcription initiation by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of transcription initiation by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of transforming growth factor beta receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein sumoylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein sumoylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein sumoylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in PML body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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
    E3 SUMO-protein ligase ZNF451
    Names
    E3 SUMO-protein transferase ZNF451
    coactivator for steroid receptors
    zinc finger protein associated with TDP2 and TOP2

    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_001031623.3 → NP_001026794.1  E3 SUMO-protein ligase ZNF451 isoform 1

      See identical proteins and their annotated locations for NP_001026794.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AB011148, AK027805, AL136311, AY055204, CN314846
      Consensus CDS
      CCDS43477.1
      UniProtKB/Swiss-Prot
      Q5VVE9, Q5VVF1, Q86YE4, Q8N380, Q8TD15, Q9C0G1, Q9NQM1, Q9Y4E5
      UniProtKB/TrEMBL
      E9PH99
      Related
      ENSP00000359740.4, ENST00000370706.9

    2. NM_001257273.2 → NP_001244202.1  E3 SUMO-protein ligase ZNF451 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks several exons and its transcription extends past a splice site that is used in variant 1, resulting in a novel 3' coding region and 3' UTR compared to variant 1. It encodes isoform 3 which is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK302577, AL450489, CK301064
      Consensus CDS
      CCDS59026.1
      UniProtKB/TrEMBL
      B4DYS2
      Related
      ENSP00000359742.4, ENST00000370708.8
      Conserved Domains (1) summary
      pfam11560
      Location:358 → 498
      LAP2alpha; Lamina-associated polypeptide 2 alpha

    3. NM_015555.3 → NP_056370.2  E3 SUMO-protein ligase ZNF451 isoform 2

      See identical proteins and their annotated locations for NP_056370.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region, compared to variant 1. Isoform 2 is shorter, compared to isoform 1.
      Source sequence(s)
      AA336048, AL136311, AY055204, BM559241, CN314846
      Consensus CDS
      CCDS4960.1
      UniProtKB/TrEMBL
      E9PH99
      Related
      ENSP00000350083.3, ENST00000357489.7

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      57090188..57170305
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011514460.3 → XP_011512762.1  E3 SUMO-protein ligase ZNF451 isoform X1

      UniProtKB/TrEMBL
      E9PH99

    2. XM_047418624.1 → XP_047274580.1  E3 SUMO-protein ligase ZNF451 isoform X3

    3. XM_011514462.4 → XP_011512764.1  E3 SUMO-protein ligase ZNF451 isoform X4

      UniProtKB/TrEMBL
      E9PH99
      Related
      ENST00000444273.6

    4. XM_011514463.3 → XP_011512765.1  E3 SUMO-protein ligase ZNF451 isoform X5

      Conserved Domains (1) summary
      pfam11560
      Location:330 → 470
      LAP2alpha; Lamina-associated polypeptide 2 alpha

    5. XM_011514461.3 → XP_011512763.1  E3 SUMO-protein ligase ZNF451 isoform X2

      UniProtKB/TrEMBL
      E9PH99

    RNA

    1. XR_007059234.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      56929190..57009330
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355130.1 → XP_054211105.1  E3 SUMO-protein ligase ZNF451 isoform X1

    2. XM_054355132.1 → XP_054211107.1  E3 SUMO-protein ligase ZNF451 isoform X3

    3. XM_054355133.1 → XP_054211108.1  E3 SUMO-protein ligase ZNF451 isoform X4

    4. XM_054355134.1 → XP_054211109.1  E3 SUMO-protein ligase ZNF451 isoform X5

    5. XM_054355131.1 → XP_054211106.1  E3 SUMO-protein ligase ZNF451 isoform X2

    RNA

    1. XR_008487294.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y4E5.2 GenPept UniProtKB/Swiss-Prot:Q9Y4E5

    Gene LinkOut

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