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    ZNF816 zinc finger protein 816 [ Homo sapiens (human) ]

    Gene ID: 125893, updated on 27-Aug-2024

    Summary

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    Official Symbol
    ZNF816provided by HGNC
    Official Full Name
    zinc finger protein 816provided by HGNC
    Primary source
    HGNC:HGNC:26995
    See related
    Ensembl:ENSG00000180257 AllianceGenome:HGNC:26995
    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
    ZNF816A
    Summary
    Predicted to enable DNA-binding transcription factor 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 integral component of membrane. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in prostate (RPKM 4.4), urinary bladder (RPKM 4.0) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    Location:
    19q13.41
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (52949385..52962881, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (56031917..56045413, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (53452638..53466134, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ZNF816-ZNF321P readthrough Neighboring gene zinc finger protein 321, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:53445795-53446619 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:53447445-53448268 Neighboring gene uncharacterized LOC124904761 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15062 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11002 Neighboring gene zinc finger protein 702, pseudogene Neighboring gene uncharacterized LOC105372453 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:53495495-53496114 Neighboring gene ARPC1A pseudogene 2

    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. Association analyses identify six new psoriasis susceptibility loci in the Chinese population. Sun LD, et al. Nat Genet, 2010 Nov. PMID 20953187, Free PMC Article
    2. Cullin 3 Exon 9 Deletion in Familial Hyperkalemic Hypertension Impairs Cullin3-Ring-E3 Ligase (CRL3) Dynamic Regulation and Cycling. Kouranti I, et al. Int J Mol Sci, 2022 May 5. PMID 35563538, Free PMC Article
    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. Architecture of the human interactome defines protein communities and disease networks. Huttlin EL, et al. Nature, 2017 May 25. PMID 28514442, Free PMC Article
    5. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Association analyses identify six new psoriasis susceptibility loci in the Chinese population.
    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

    • MGC125619

    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 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 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 816
    Names
    zinc finger protein 816A

    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_001031665.4 → NP_001026835.1  zinc finger protein 816

      See identical proteins and their annotated locations for NP_001026835.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AC010487, BC063805, BC105930, DA473052
      Consensus CDS
      CCDS33096.1
      UniProtKB/Swiss-Prot
      A8K7H5, Q0VGE8, Q3KR39, Q659B3
      Related
      ENSP00000350295.4, ENST00000357666.8
      Conserved Domains (3) summary
      COG5048
      Location:283 → 650
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:287 → 307
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:24 → 64
      KRAB; KRAB box

    2. NM_001202456.3 → NP_001189385.1  zinc finger protein 816

      See identical proteins and their annotated locations for NP_001189385.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AC010487, BC063805, BC105930, DA473052
      Consensus CDS
      CCDS33096.1
      UniProtKB/Swiss-Prot
      A8K7H5, Q0VGE8, Q3KR39, Q659B3
      Conserved Domains (3) summary
      COG5048
      Location:283 → 650
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:287 → 307
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:24 → 64
      KRAB; KRAB box

    3. NM_001202457.3 → NP_001189386.1  zinc finger protein 816

      See identical proteins and their annotated locations for NP_001189386.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AC010487, BC063805, BC105930, DA473052
      Consensus CDS
      CCDS33096.1
      UniProtKB/Swiss-Prot
      A8K7H5, Q0VGE8, Q3KR39, Q659B3
      Related
      ENSP00000403266.2, ENST00000444460.7
      Conserved Domains (3) summary
      COG5048
      Location:283 → 650
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:287 → 307
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:24 → 64
      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
      52949385..52962881 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      56031917..56045413 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q0VGE8.2 GenPept UniProtKB/Swiss-Prot:Q0VGE8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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