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    ZNF175 zinc finger protein 175 [ Homo sapiens (human) ]

    Gene ID: 7728, updated on 3-Nov-2024

    Summary

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    Official Symbol
    ZNF175provided by HGNC
    Official Full Name
    zinc finger protein 175provided by HGNC
    Primary source
    HGNC:HGNC:12964
    See related
    Ensembl:ENSG00000105497 MIM:601139; AllianceGenome:HGNC:12964
    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
    OTK18
    Summary
    Enables DNA-binding transcription activator activity, RNA polymerase II-specific; DNA-binding transcription repressor activity, RNA polymerase II-specific; and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II and positive regulation of transcription by RNA polymerase II. Located in cytosol and nucleolus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 3.4), ovary (RPKM 3.2) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See ZNF175 in Genome Data Viewer
    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 (51571283..51592510)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (54659955..54681159)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (52074536..52095763)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15021 Neighboring gene sialic acid binding Ig like lectin 28, pseudogene Neighboring gene sialic acid binding Ig like lectin 29, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15022 Neighboring gene MPRA-validated peak3547 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:52096077-52096712 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:52096713-52097348 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:52097349-52097984 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15024 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:52098383-52098550 Neighboring gene long intergenic non-protein coding RNA 1530 Neighboring gene cytosolic thiouridylase subunit 1 homolog (S. pombe) pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15025 Neighboring gene uncharacterized LOC124904753 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10989 Neighboring gene sialic acid binding Ig like lectin 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 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. Isolation and mapping of a novel human gene encoding a protein containing zinc-finger structures. Saito H, et al. Genomics, 1996 Feb 1. PMID 8838321
    2. OTK18 expression in brain mononuclear phagocytes parallels the severity of HIV-1 encephalitis. Carlson KA, et al. J Neuroimmunol, 2004 May. PMID 15081264
    3. OTK18 levels in plasma and cerebrospinal fluid correlate with viral load and CD8 T-cells in normal and AIDS patients. Buescher JL, et al. J Neuroimmune Pharmacol, 2008 Dec. PMID 18773297, Free PMC Article
    4. The effect of OTK18 upregulation in U937 cells on neuronal survival. Gilling CE, et al. In Vitro Cell Dev Biol Anim, 2009 May-Jun. PMID 19247725
    5. Repression of the HIV-1 5' LTR promoter and inhibition of HIV-1 replication by using engineered zinc-finger transcription factors. Reynolds L, et al. Proc Natl Acad Sci U S A, 2003 Feb 18. PMID 12574502, Free PMC Article

    See all (31) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. OTK18 may play a role in neurotrophin production and consequently support neuronal survival.
      Title: The effect of OTK18 upregulation in U937 cells on neuronal survival.
    3. HIV-1 induces OTK18 expression through a YIN-YANG-1 mediated manner in human macrophages
      Title: YY1 and FoxD3 regulate antiretroviral zinc finger protein OTK18 promoter activation induced by HIV-1 infection.
    4. These data suggest that calpain and proteasome are involved in OTK18 endoproteolysis and degradation
      Title: Calpain and proteasomal regulation of antiretroviral zinc finger protein OTK18 in human macrophages: visualization in live cells by intramolecular FRET.
    5. Plasma OTK18 levels are positively correlated to CD8 T-cell counts, independent of HIV-1 status.
      Title: OTK18 levels in plasma and cerebrospinal fluid correlate with viral load and CD8 T-cells in normal and AIDS patients.
    6. These results suggest a role for OTK18 in innate immunity.
      Title: Characterization of gene expression regulated by human OTK18 using Drosophila melanogaster as a model system for innate immunity.
    7. OTK18/zinc finger protein 175 expression in brain mononuclear phagocytes is a signature for advanced HIV-1 encephalitis.
      Title: OTK18 expression in brain mononuclear phagocytes parallels the severity of HIV-1 encephalitis.
    8. Transcriptional suppressor OTK18 plays a role in macrophage control of viral replication during advanced HIV-1 infection.
      Title: Molecular characterization of a putative antiretroviral transcriptional factor, OTK18.
    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
    Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis.
    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)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat OTK18 suppresses HIV-1 Tat-induced LTR promoter activity. The Kruppel-associated box (amino acids 1-115) and zinc finger regions (amino acids 300-711) of OTK18 are responsible for the transcriptional suppressive activities PubMed

    Go to the HIV-1, Human Interaction Database

    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 activator activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables DNA-binding transcription factor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II transcription regulatory region sequence-specific DNA 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 defense response to virus IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  
    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 175
    Names
    zinc finger protein OTK18

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_007147.4 → NP_009078.1  zinc finger protein 175

      Status: VALIDATED

      Source sequence(s)
      AC018755, AW500087, BC052997, BX474148, DB528741
      Consensus CDS
      CCDS12837.1
      UniProtKB/Swiss-Prot
      A8K9H2, Q9Y473
      Related
      ENSP00000262259.2, ENST00000262259.7
      Conserved Domains (3) summary
      smart00349
      Location:27 → 85
      KRAB; krueppel associated box
      COG5048
      Location:275 → 689
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:505 → 525
      ZF_C2H2; C2H2 Zn finger [structural motif]

    RNA

    1. NR_136208.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AW500087, BC007778, BX474148
      Related
      ENST00000545217.5

    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
      51571283..51592510
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      54659955..54681159
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y473.1 GenPept UniProtKB/Swiss-Prot:Q9Y473

    Gene LinkOut

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

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