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    ZNF814 zinc finger protein 814 [ Homo sapiens (human) ]

    Gene ID: 730051, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ZNF814provided by HGNC
    Official Full Name
    zinc finger protein 814provided by HGNC
    Primary source
    HGNC:HGNC:33258
    See related
    Ensembl:ENSG00000204514 AllianceGenome:HGNC:33258
    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
    Predicted to enable DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in prostate (RPKM 1.9), spleen (RPKM 1.9) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See ZNF814 in Genome Data Viewer
    Location:
    19q13.43
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (57869381..57905128, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (60965622..61002049, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (58380749..58400405, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:58361669-58362868 Neighboring gene uncharacterized LOC124904782 Neighboring gene zinc finger protein 587 Neighboring gene ubiquitin conjugating enzyme E2 C pseudogene 5 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr19:58398549-58399281 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:58399306-58399849 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:58399850-58400392 Neighboring gene zinc finger protein 417 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15169 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:58428025-58428880 Neighboring gene zinc finger protein 418 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:58446173-58447055

    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. The DNA sequence and biology of human chromosome 19. Grimwood J, et al. Nature, 2004 Apr 1. PMID 15057824
    2. UFMylation maintains tumour suppressor p53 stability by antagonizing its ubiquitination. Liu J, et al. Nat Cell Biol, 2020 Sep. PMID 32807901
    3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    • FLJ39082

    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
    		  
    Process Evidence Code Pubs
    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
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger protein 814

    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_001144989.2 → NP_001138461.1  zinc finger protein 814

      See identical proteins and their annotated locations for NP_001138461.1

      Status: VALIDATED

      Source sequence(s)
      AC010326, AK300483
      Consensus CDS
      CCDS46212.1
      UniProtKB/Swiss-Prot
      A6NF35, B7Z6K7
      Related
      ENSP00000410545.1, ENST00000435989.7
      Conserved Domains (3) summary
      COG5048
      Location:214 → 650
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:746 → 766
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:15 → 55
      KRAB; KRAB box

    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
      57869381..57905128 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047439309.1 → XP_047295265.1  zinc finger protein 814 isoform X1

      UniProtKB/Swiss-Prot
      A6NF35, B7Z6K7
      Conserved Domains (3) summary
      COG5048
      Location:214 → 650
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:746 → 766
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:15 → 55
      KRAB; KRAB box

    2. XM_017027197.2 → XP_016882686.1  zinc finger protein 814 isoform X2

      Conserved Domains (2) summary
      COG5048
      Location:132 → 568
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:664 → 684
      ZF_C2H2; C2H2 Zn finger [structural motif]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      60965622..61002049 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054321930.1 → XP_054177905.1  zinc finger protein 814 isoform X3

    2. XM_054321931.1 → XP_054177906.1  zinc finger protein 814 isoform X2

    3. XM_054321929.1 → XP_054177904.1  zinc finger protein 814 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    B7Z6K7.2 GenPept UniProtKB/Swiss-Prot:B7Z6K7

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