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    ZNF80 zinc finger protein 80 [ Homo sapiens (human) ]

    Gene ID: 7634, updated on 11-Apr-2024

    Summary

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    Official Symbol
    ZNF80provided by HGNC
    Official Full Name
    zinc finger protein 80provided by HGNC
    Primary source
    HGNC:HGNC:13155
    See related
    Ensembl:ENSG00000174255 MIM:194553; AllianceGenome:HGNC:13155
    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
    pT17
    Summary
    Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within negative regulation of transcription by RNA polymerase II. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in lymph node (RPKM 1.1), appendix (RPKM 0.6) and 7 other tissues See more
    Orthologs
    all
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    Genomic context

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    Location:
    3q13.31
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (114234631..114237578, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (116955563..116958509, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (113953478..113956425, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene dopamine receptor D3 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:113871254-113871787 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:113873145-113873654 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:113873655-113874164 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:113932583-113933256 Neighboring gene ZNF80-LTR promoter Neighboring gene ATOSB pseudogene 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:113993502-113994701 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr3:114009187-114010130 and GRCh37_chr3:114010131-114011073 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:114017997-114018498 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:114018499-114018998 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20270 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20271 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20272 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20273 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20274 Neighboring gene uncharacterized LOC124909411 Neighboring gene T cell immunoreceptor with Ig and ITIM domains

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Characterization and genomic mapping of the ZNF80 locus: expression of this zinc-finger gene is driven by a solitary LTR of ERV9 endogenous retroviral family. Di Cristofano A, et al. Nucleic Acids Res, 1995 Aug 11. PMID 7659503, Free PMC Article
    2. Chromosomal localization of four human zinc finger cDNAs. Huebner K, et al. Hum Genet, 1993 Apr. PMID 8478004
    3. A cohesin-RAD21 interactome. Panigrahi AK, et al. Biochem J, 2012 Mar 15. PMID 22145905
    4. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
    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)

    Genotypes

    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 transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II transcription 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
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 80
    Names
    ZNFPT17

    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_007136.4 → NP_009067.2  zinc finger protein 80

      See identical proteins and their annotated locations for NP_009067.2

      Status: VALIDATED

      Source sequence(s)
      AC093010
      Consensus CDS
      CCDS2979.1
      UniProtKB/Swiss-Prot
      P51504, Q6NSW4, Q6NT14
      Related
      ENSP00000417192.3, ENST00000482457.4
      Conserved Domains (3) summary
      COG5048
      Location:51 → 227
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:107 → 127
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:175 → 200
      zf-H2C2_2; Zinc-finger double domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      114234631..114237578 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      116955563..116958509 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P51504.2 GenPept UniProtKB/Swiss-Prot:P51504

    Gene LinkOut

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

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