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    ZNF827 zinc finger protein 827 [ Homo sapiens (human) ]

    Gene ID: 152485, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ZNF827provided by HGNC
    Official Full Name
    zinc finger protein 827provided by HGNC
    Primary source
    HGNC:HGNC:27193
    See related
    Ensembl:ENSG00000151612 MIM:617962; AllianceGenome:HGNC:27193
    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
    Summary
    Enables NuRD complex binding activity. Involved in several processes, including establishment of protein localization to telomere; negative regulation of shelterin complex assembly; and telomere maintenance. Located in chromatin and chromosome, telomeric region. Part of ribonucleoprotein complex. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in prostate (RPKM 4.9), thyroid (RPKM 2.3) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZNF827 in Genome Data Viewer
    Location:
    4q31.21-q31.22
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (145757627..145938823, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (149073653..149254873, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (146678779..146859975, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15731 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15732 Neighboring gene long intergenic non-protein coding RNA 2491 Neighboring gene nuclear receptor coactivator 4 pseudogene 3 Neighboring gene metabolism of cobalamin associated A Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:146608063-146608617 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr4:146619735-146620662 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:146620663-146621589 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:146624094-146624783 Neighboring gene NANOG hESC enhancer GRCh37_chr4:146625046-146625631 Neighboring gene chromosome 4 open reading frame 51 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21965 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21966 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15733 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:146655149-146655948 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:146655949-146656746 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:146683575-146684076 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:146684077-146684576 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21967 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:146729136-146730335 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21969 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:146746417-146746985 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:146753533-146754304 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:146756877-146757401 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:146757402-146757925 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:146758974-146759498 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:146759499-146760022 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:146799791-146800383 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21970 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15734 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21971 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:146853271-146853772 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15735 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15736 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15737 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21972 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:146875811-146877010 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15738 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21973 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21974 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:146975373-146976572 Neighboring gene uncharacterized LOC105377468 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21976 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21977 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21978 Neighboring gene uncharacterized LOC105377469 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21979 Neighboring gene long intergenic non-protein coding RNA 1095

    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. Structural and functional characterization of the RBBP4-ZNF827 interaction and its role in NuRD recruitment to telomeres. Yang SF, et al. Biochem J, 2018 Aug 31. PMID 30045876
    2. Genome-wide association of individual vulnerability with alcohol-associated liver disease: A Korean genome and epidemiology study. Kim KY, et al. Hepatology, 2022 Feb. PMID 34387878, Free PMC Article
    3. Scan of human genome reveals no new Loci under ancient balancing selection. Bubb KL, et al. Genetics, 2006 Aug. PMID 16751668, Free PMC Article
    4. circZNF827 nucleates a transcription inhibitory complex to balance neuronal differentiation. Hollensen AK, et al. Elife, 2020 Nov 11. PMID 33174841, Free PMC Article
    5. NuRD-ZNF827 recruitment to telomeres creates a molecular scaffold for homologous recombination. Conomos D, et al. Nat Struct Mol Biol, 2014 Sep. PMID 25150861

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Genome-wide association of individual vulnerability with alcohol-associated liver disease: A Korean genome and epidemiology study.
      Title: Genome-wide association of individual vulnerability with alcohol-associated liver disease: A Korean genome and epidemiology study.
    2. RBBP4 forms a negatively charged channel that binds to ZNF827 through a network of electrostatic interactions.
      Title: Structural and functional characterization of the RBBP4-ZNF827 interaction and its role in NuRD recruitment to telomeres.
    3. NuRD-ZNF827 recruitment to human telomeres causes remodeling of telomeric chromatin and creates an environment that promotes telomere-telomere recombination and integrates and controls multiple elements of Alternative lengthening of telomeres activity.
      Title: NuRD-ZNF827 recruitment to telomeres creates a molecular scaffold for homologous recombination.
    4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
    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

    EBI GWAS Catalog

    Description
    A genome-wide association study of behavioral disinhibition.
    EBI GWAS Catalog
    Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
    EBI GWAS Catalog
    Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
    EBI GWAS Catalog
    GWAS of dental caries patterns in the permanent dentition.
    EBI GWAS Catalog
    Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
    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)

    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 IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables NuRD complex 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 chromatin remodeling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in establishment of protein localization to telomere IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of shelterin complex assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in telomere maintenance IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in chromatin IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in chromosome, telomeric region IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of ribonucleoprotein complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    zinc finger protein 827

    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_001306215.2 → NP_001293144.1  zinc finger protein 827 isoform 1

      See identical proteins and their annotated locations for NP_001293144.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents longer isoform (1).
      Source sequence(s)
      AK091130, AK094136, AK225805, BC033248, BU616184, BX112429
      Consensus CDS
      CCDS77968.1
      UniProtKB/Swiss-Prot
      B7ZL52, Q17R98, Q7Z4S7, Q8N279
      UniProtKB/TrEMBL
      A0A494C0H4
      Related
      ENSP00000421863.1, ENST00000508784.6
      Conserved Domains (4) summary
      COG5048
      Location:355 → 443
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:376 → 396
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:819 → 839
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:388 → 413
      zf-H2C2_2; Zinc-finger double domain

    2. NM_001410850.1 → NP_001397779.1  zinc finger protein 827 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC104791, AC107212
      Consensus CDS
      CCDS93645.1
      UniProtKB/TrEMBL
      H0Y9M2
      Related
      ENSP00000424541.2, ENST00000503462.3

    3. NM_178835.5 → NP_849157.2  zinc finger protein 827 isoform 2

      See identical proteins and their annotated locations for NP_849157.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and uses an alternate splice site that results in a shorter 3' coding region compared to variant 1. It encodes isoform 2, which has a shorter C-terminus compared to isoform 1.
      Source sequence(s)
      AK091130, AK094136, AK225805, BC033248, BC117407, BM557137, BU616184, BX112429
      Consensus CDS
      CCDS34072.1
      UniProtKB/TrEMBL
      A0A494C0H4
      Related
      ENSP00000368761.4, ENST00000379448.9
      Conserved Domains (4) summary
      COG5048
      Location:355 → 443
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:376 → 396
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:819 → 839
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:388 → 413
      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

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      145757627..145938823 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047449635.1 → XP_047305591.1  zinc finger protein 827 isoform X4

    2. XM_017007768.3 → XP_016863257.1  zinc finger protein 827 isoform X1

    3. XM_017007770.3 → XP_016863259.1  zinc finger protein 827 isoform X3

    4. XM_047449634.1 → XP_047305590.1  zinc finger protein 827 isoform X2

    5. XM_047449636.1 → XP_047305592.1  zinc finger protein 827 isoform X5

    6. XM_011531635.3 → XP_011529937.1  zinc finger protein 827 isoform X2

      See identical proteins and their annotated locations for XP_011529937.1

      Conserved Domains (4) summary
      COG5048
      Location:343 → 431
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:364 → 384
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:807 → 827
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:1134 → 1158
      zf-H2C2_2; Zinc-finger double domain

    7. XM_017007769.2 → XP_016863258.1  zinc finger protein 827 isoform X2

      Conserved Domains (4) summary
      COG5048
      Location:343 → 431
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:364 → 384
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:807 → 827
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:1134 → 1158
      zf-H2C2_2; Zinc-finger double domain

    8. XM_017007777.3 → XP_016863266.1  zinc finger protein 827 isoform X12

      Conserved Domains (3) summary
      sd00017
      Location:516 → 536
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:230 → 250
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:557 → 581
      zf-H2C2_2; Zinc-finger double domain

    9. XM_011531645.3 → XP_011529947.1  zinc finger protein 827 isoform X13

      Conserved Domains (3) summary
      sd00017
      Location:437 → 457
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:151 → 171
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:478 → 502
      zf-H2C2_2; Zinc-finger double domain

    10. XM_047449637.1 → XP_047305593.1  zinc finger protein 827 isoform X6

      Related
      ENSP00000498532.1, ENST00000652097.1

    11. XM_047449638.1 → XP_047305594.1  zinc finger protein 827 isoform X7

    12. XM_047449639.1 → XP_047305595.1  zinc finger protein 827 isoform X9

    13. XM_017007775.3 → XP_016863264.1  zinc finger protein 827 isoform X8

      UniProtKB/TrEMBL
      A0A494C0H4
      Related
      ENSP00000499364.1, ENST00000656985.1
      Conserved Domains (4) summary
      COG5048
      Location:355 → 443
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:376 → 396
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:819 → 839
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:388 → 413
      zf-H2C2_2; Zinc-finger double domain

    14. XM_017007776.3 → XP_016863265.1  zinc finger protein 827 isoform X11

    15. XM_047449640.1 → XP_047305596.1  zinc finger protein 827 isoform X10

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      149073653..149254873 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054348978.1 → XP_054204953.1  zinc finger protein 827 isoform X4

    2. XM_054348975.1 → XP_054204950.1  zinc finger protein 827 isoform X1

    3. XM_054348977.1 → XP_054204952.1  zinc finger protein 827 isoform X3

    4. XM_054348976.1 → XP_054204951.1  zinc finger protein 827 isoform X2

    5. XM_054348979.1 → XP_054204954.1  zinc finger protein 827 isoform X5

    6. XM_054348986.1 → XP_054204961.1  zinc finger protein 827 isoform X12

    7. XM_054348987.1 → XP_054204962.1  zinc finger protein 827 isoform X13

    8. XM_054348980.1 → XP_054204955.1  zinc finger protein 827 isoform X6

    9. XM_054348981.1 → XP_054204956.1  zinc finger protein 827 isoform X7

    10. XM_054348983.1 → XP_054204958.1  zinc finger protein 827 isoform X9

    11. XM_054348982.1 → XP_054204957.1  zinc finger protein 827 isoform X8

    12. XM_054348985.1 → XP_054204960.1  zinc finger protein 827 isoform X11

    13. XM_054348984.1 → XP_054204959.1  zinc finger protein 827 isoform X10

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q17R98.1 GenPept UniProtKB/Swiss-Prot:Q17R98

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