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    ZNF350 zinc finger protein 350 [ Homo sapiens (human) ]

    Gene ID: 59348, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ZNF350provided by HGNC
    Official Full Name
    zinc finger protein 350provided by HGNC
    Primary source
    HGNC:HGNC:16656
    See related
    Ensembl:ENSG00000256683 MIM:605422; AllianceGenome:HGNC:16656
    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
    ZFQR; ZBRK1
    Summary
    Enables DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II. Located in nuclear body. Part of transcription repressor complex. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in prostate (RPKM 10.8), thyroid (RPKM 4.3) and 24 other tissues See more
    Orthologs
    all
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    Genomic context

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    See ZNF350 in Genome Data Viewer
    Location:
    19q13.41
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (51964340..51986840, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (55051534..55074038, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (52467593..52490093, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene zinc finger protein 41 pseudogene Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:52429745-52430508 Neighboring gene zinc finger protein 613 Neighboring gene ZNF350 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:52489558-52490433 Neighboring gene zinc finger protein 615 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15032 Neighboring gene uncharacterized LOC124904755 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15033 Neighboring gene zinc finger protein 614

    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. Genetic variants and haplotype analyses of the ZBRK1/ZNF350 gene in high-risk non BRCA1/2 French Canadian breast and ovarian cancer families. Desjardins S, et al. Int J Cancer, 2008 Jan 1. PMID 17764113
    2. Analysis of ZNF350/ZBRK1 promoter variants and breast cancer susceptibility in non-BRCA1/2 French Canadian breast cancer families. Plourde KV, et al. J Hum Genet, 2013 Feb. PMID 23151675
    3. Tetrameric ZBRK1 DNA binding domain has affinity towards cognate DNA in absence of zinc ions. Yadav LR, et al. Biochem Biophys Res Commun, 2014 Jul 18. PMID 24924633
    4. Tetrameric oligomerization mediates transcriptional repression by the BRCA1-dependent Kruppel-associated box-zinc finger protein ZBRK1. Tan W, et al. J Biol Chem, 2004 Dec 31. PMID 15496401
    5. Functional Evaluation of ZNF350 Missense Genetic Variants Associated with Breast Cancer Susceptibility. Zhang N, et al. DNA Cell Biol, 2018 Jun. PMID 29653063

    See all (67) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. HECW1 induces NCOA4-regulated ferroptosis in glioma through the ubiquitination and degradation of ZNF350.
      Title: HECW1 induces NCOA4-regulated ferroptosis in glioma through the ubiquitination and degradation of ZNF350.
    2. IRF1/ZNF350/GPX4-mediated ferroptosis of renal tubular epithelial cells promote chronic renal allograft interstitial fibrosis.
      Title: IRF1/ZNF350/GPX4-mediated ferroptosis of renal tubular epithelial cells promote chronic renal allograft interstitial fibrosis.
    3. Correlation between ZBRK1/ZNF350 gene polymorphism and breast cancer.
      Title: Correlation between ZBRK1/ZNF350 gene polymorphism and breast cancer.
    4. Role of the Transcriptional Repressor Zinc Finger with KRAB and SCAN Domains 3 (ZKSCAN3) in Retinal Pigment Epithelial Cells.
      Title: Role of the Transcriptional Repressor Zinc Finger with KRAB and SCAN Domains 3 (ZKSCAN3) in Retinal Pigment Epithelial Cells.
    5. PFKP is transcriptionally repressed by BRCA1/ZBRK1 and predicts prognosis in breast cancer.
      Title: PFKP is transcriptionally repressed by BRCA1/ZBRK1 and predicts prognosis in breast cancer.
    6. The work identifies the interaction interfaces in the KAP1 tripartite motif responsible for self-association and KRAB binding and establishes their role in retrotransposon silencing.
      Title: Structure of KAP1 tripartite motif identifies molecular interfaces required for retroelement silencing.
    7. BRCA1 forms a co-repressor complex with ZBRK1 that coordinately represses GOT2 expression via a ZBRK1 recognition element in the promoter of GOT2.
      Title: Preventing BRCA1/ZBRK1 repressor complex binding to the GOT2 promoter results in accelerated aspartate biosynthesis and promotion of cell proliferation.
    8. These data indicate that the KAP1-KZNF pathway contributes to genome stability and innate immune control in adult human cells.
      Title: KAP1 regulates endogenous retroviruses in adult human cells and contributes to innate immune control.
    9. Results indicate ZNF350 as an important gene mammary oncogenesis.
      Title: Functional Evaluation of ZNF350 Missense Genetic Variants Associated with Breast Cancer Susceptibility.
    10. Results indicated that SNP rs2278414 at ZNF350 may in fl uence an individual's susceptibility to age-related cataract (ARC) by affecting the binding af fi nity of miR-21-3p and miR-150-5p and regulating expression levels of the mRNAs, resulting in different levels of cellular DNA breaks, thus contributing to ARC.
      Title: Functional SNP in 3'-UTR MicroRNA-Binding Site of ZNF350 Confers Risk for Age-Related Cataract.
    Submit: New GeneRIF Correction See all GeneRIFs (37)

    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)

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables DNA-binding transcription factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II intronic 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 negative regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of DNA-templated transcription 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 nuclear body IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nuclear matrix IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of transcription repressor complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    zinc finger protein 350
    Names
    KRAB zinc finger protein ZFQR
    zinc finger and BRCA1-interacting protein with a KRAB domain 1
    zinc finger protein ZBRK1

    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_021632.4 → NP_067645.3  zinc finger protein 350

      See identical proteins and their annotated locations for NP_067645.3

      Status: VALIDATED

      Source sequence(s)
      AC011460, AF309561, AU135269, BC009921, BM674621
      Consensus CDS
      CCDS12845.1
      UniProtKB/Swiss-Prot
      Q96G73, Q9GZX5, Q9HAQ4
      Related
      ENSP00000243644.3, ENST00000243644.9
      Conserved Domains (3) summary
      smart00349
      Location:9 → 68
      KRAB; krueppel associated box
      COG5048
      Location:160 → 422
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:236 → 256
      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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      51964340..51986840 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017027094.2 → XP_016882583.1  zinc finger protein 350 isoform X1

    2. XM_017027098.2 → XP_016882587.1  zinc finger protein 350 isoform X2

      UniProtKB/Swiss-Prot
      Q96G73, Q9GZX5, Q9HAQ4
      Conserved Domains (3) summary
      smart00349
      Location:9 → 68
      KRAB; krueppel associated box
      COG5048
      Location:160 → 422
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:236 → 256
      ZF_C2H2; C2H2 Zn finger [structural motif]

    3. XM_047439182.1 → XP_047295138.1  zinc finger protein 350 isoform X1

    4. XM_017027099.2 → XP_016882588.1  zinc finger protein 350 isoform X2

      UniProtKB/Swiss-Prot
      Q96G73, Q9GZX5, Q9HAQ4
      Conserved Domains (3) summary
      smart00349
      Location:9 → 68
      KRAB; krueppel associated box
      COG5048
      Location:160 → 422
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:236 → 256
      ZF_C2H2; C2H2 Zn finger [structural motif]

    5. XM_047439183.1 → XP_047295139.1  zinc finger protein 350 isoform X1

    6. XM_047439185.1 → XP_047295141.1  zinc finger protein 350 isoform X2

      UniProtKB/Swiss-Prot
      Q96G73, Q9GZX5, Q9HAQ4

    7. XM_047439184.1 → XP_047295140.1  zinc finger protein 350 isoform X2

      UniProtKB/Swiss-Prot
      Q96G73, Q9GZX5, Q9HAQ4

    8. XM_017027100.1 → XP_016882589.1  zinc finger protein 350 isoform X2

      UniProtKB/Swiss-Prot
      Q96G73, Q9GZX5, Q9HAQ4
      Conserved Domains (3) summary
      smart00349
      Location:9 → 68
      KRAB; krueppel associated box
      COG5048
      Location:160 → 422
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:236 → 256
      ZF_C2H2; C2H2 Zn finger [structural motif]

    9. XM_017027096.2 → XP_016882585.1  zinc finger protein 350 isoform X1

    10. XM_047439187.1 → XP_047295143.1  zinc finger protein 350 isoform X3

    11. XM_047439186.1 → XP_047295142.1  zinc finger protein 350 isoform X3

    12. XM_047439188.1 → XP_047295144.1  zinc finger protein 350 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      55051534..55074038 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054321657.1 → XP_054177632.1  zinc finger protein 350 isoform X1

    2. XM_054321660.1 → XP_054177635.1  zinc finger protein 350 isoform X2

      UniProtKB/Swiss-Prot
      Q96G73, Q9GZX5, Q9HAQ4

    3. XM_054321658.1 → XP_054177633.1  zinc finger protein 350 isoform X1

    4. XM_054321662.1 → XP_054177637.1  zinc finger protein 350 isoform X2

      UniProtKB/Swiss-Prot
      Q96G73, Q9GZX5, Q9HAQ4

    5. XM_054321661.1 → XP_054177636.1  zinc finger protein 350 isoform X2

      UniProtKB/Swiss-Prot
      Q96G73, Q9GZX5, Q9HAQ4

    6. XM_054321663.1 → XP_054177638.1  zinc finger protein 350 isoform X2

      UniProtKB/Swiss-Prot
      Q96G73, Q9GZX5, Q9HAQ4

    7. XM_054321659.1 → XP_054177634.1  zinc finger protein 350 isoform X1

    8. XM_054321665.1 → XP_054177640.1  zinc finger protein 350 isoform X3

    9. XM_054321664.1 → XP_054177639.1  zinc finger protein 350 isoform X3

    10. XM_054321666.1 → XP_054177641.1  zinc finger protein 350 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9GZX5.3 GenPept UniProtKB/Swiss-Prot:Q9GZX5

    Gene LinkOut

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