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    ZNF81 zinc finger protein 81 [ Homo sapiens (human) ]

    Gene ID: 347344, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ZNF81provided by HGNC
    Official Full Name
    zinc finger protein 81provided by HGNC
    Primary source
    HGNC:HGNC:13156
    See related
    Ensembl:ENSG00000197779 MIM:314998; AllianceGenome:HGNC:13156
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HFZ20; MRX45; dJ54B20.6
    Summary
    This gene encodes a protein that likely functions as a transcription factor. The protein contains an N-terminal KRAB domain and several C2H2-type zinc finger motifs. Mutations in this gene cause an X-linked form of intellectual disability (MRX45). Microduplication of a region of chromosome X including this gene has also been associated with other forms of intellectual disability. [provided by RefSeq, Jul 2017]
    Expression
    Ubiquitous expression in thyroid (RPKM 1.2), skin (RPKM 1.1) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See ZNF81 in Genome Data Viewer
    Location:
    Xp11.23
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (47836902..47925627)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (47246777..47335477)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (47696301..47785026)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene zinc finger protein 484 pseudogene Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:47648236-47648798 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:47665811-47666441 Neighboring gene MED14-independent group 3 enhancer GRCh37_chrX:47675037-47676236 Neighboring gene WASP family member 4, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29598 Neighboring gene ribosomal protein L7 pseudogene 57 Neighboring gene CRISPRi-FlowFISH-validated HDAC6 regulatory element 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29599 Neighboring gene zinc finger protein 182 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29600 Neighboring gene sperm acrosome associated 5

    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. Physical mapping in a YAC contig of 11 markers on the human X chromosome in Xp11.23. Hagemann T, et al. Genomics, 1994 May 1. PMID 8088799
    2. A 1.8-Mb YAC contig in Xp11.23: identification of CpG islands and physical mapping of CA repeats in a region of high gene density. Coleman MP, et al. Genomics, 1994 May 15. PMID 8088827
    3. Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation. Kleefstra T, et al. J Med Genet, 2004 May. PMID 15121780, Free PMC Article
    4. A novel X-linked member of the human zinc finger protein gene family: isolation, mapping, and expression. Marino M, et al. Mamm Genome, 1993. PMID 8507979
    5. A high-resolution map of genes, microsatellite markers, and new dinucleotide repeats from UBE1 to the GATA locus in the region Xp11.23. Kwan SP, et al. Genomics, 1995 Sep 1. PMID 8530079

    See all (17) 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

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2012-10-29)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2012-10-29)

    ClinGen Genome Curation Page

    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

    • FLJ44367

    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 81

    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.

    Genomic

    1. NG_021266.2 RefSeqGene

      Range
      5002..93727
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001378152.1 → NP_001365081.1  zinc finger protein 81 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL022578, AL591394, Z98304
      Consensus CDS
      CCDS43933.1
      UniProtKB/Swiss-Prot
      P51508, Q6RX22, Q96QH6
      Conserved Domains (3) summary
      smart00349
      Location:21 → 81
      KRAB; krueppel associated box
      COG5048
      Location:356 → 651
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:444 → 464
      ZF_C2H2; C2H2 Zn finger [structural motif]

    2. NM_001378153.1 → NP_001365082.1  zinc finger protein 81 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL022578, AL591394, Z98304
      Consensus CDS
      CCDS43933.1
      UniProtKB/Swiss-Prot
      P51508, Q6RX22, Q96QH6
      Conserved Domains (3) summary
      smart00349
      Location:21 → 81
      KRAB; krueppel associated box
      COG5048
      Location:356 → 651
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:444 → 464
      ZF_C2H2; C2H2 Zn finger [structural motif]

    3. NM_001378154.1 → NP_001365083.1  zinc finger protein 81 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL022578, AL591394, Z98304
      Conserved Domains (1) summary
      smart00349
      Location:21 → 81
      KRAB; krueppel associated box

    4. NM_001378155.1 → NP_001365084.1  zinc finger protein 81 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL022578, AL591394, Z98304
      UniProtKB/TrEMBL
      B1AJV2
      Conserved Domains (1) summary
      smart00349
      Location:21 → 81
      KRAB; krueppel associated box

    5. NM_007137.5 → NP_009068.2  zinc finger protein 81 isoform 1

      See identical proteins and their annotated locations for NP_009068.2

      Status: REVIEWED

      Source sequence(s)
      AL022578, AL591394, Z98304
      Consensus CDS
      CCDS43933.1
      UniProtKB/Swiss-Prot
      P51508, Q6RX22, Q96QH6
      Related
      ENSP00000341151.7, ENST00000338637.13
      Conserved Domains (3) summary
      smart00349
      Location:21 → 81
      KRAB; krueppel associated box
      COG5048
      Location:356 → 651
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:444 → 464
      ZF_C2H2; C2H2 Zn finger [structural motif]

    RNA

    1. NR_165431.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL022578, AL591394
      Related
      ENST00000334937.8

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      47836902..47925627
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      47246777..47335477
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P51508.3 GenPept UniProtKB/Swiss-Prot:P51508

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