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    ZNFX1 zinc finger NFX1-type containing 1 [ Homo sapiens (human) ]

    Gene ID: 57169, updated on 3-Nov-2024

    Summary

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    Official Symbol
    ZNFX1provided by HGNC
    Official Full Name
    zinc finger NFX1-type containing 1provided by HGNC
    Primary source
    HGNC:HGNC:29271
    See related
    Ensembl:ENSG00000124201 MIM:618931; AllianceGenome:HGNC:29271
    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
    IMD91
    Summary
    Enables RNA binding activity. Involved in defense response to bacterium and defense response to virus. Is active in cytoplasmic stress granule. Implicated in primary immunodeficiency disease. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in lung (RPKM 11.1), spleen (RPKM 10.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZNFX1 in Genome Data Viewer
    Location:
    20q13.13
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (49245900..49278057, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (51015403..51047555, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (47862437..47894594, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene staufen double-stranded RNA binding protein 1 Neighboring gene actin related protein 2/3 complex subunit 3 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:47797000-47797528 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18055 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12993 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12994 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:47835541-47836266 Neighboring gene DEAD-box helicase 27 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18056 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18057 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:47894170-47894670 Neighboring gene Sharpr-MPRA regulatory region 13855 Neighboring gene small nucleolar RNA, C/D box 12C Neighboring gene small nucleolar RNA, C/D box 12B Neighboring gene ZNFX1 antisense RNA 1

    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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Circular RNA CircSATB2 facilitates osteosarcoma progression through regulating the miR-661/FUS-mediated mRNA of ZNFX1.
      Title: Circular RNA CircSATB2 facilitates osteosarcoma progression through regulating the miR-661/FUS-mediated mRNA of ZNFX1.
    2. Long non-coding RNA ZNFX1 antisense 1 (ZFAS1) suppresses anti-oxidative stress in chondrocytes during osteoarthritis by sponging microRNA-1323.
      Title: Long non-coding RNA ZNFX1 antisense 1 (ZFAS1) suppresses anti-oxidative stress in chondrocytes during osteoarthritis by sponging microRNA-1323.
    3. Biallelic ZNFX1 variants are associated with a spectrum of immuno-hematological abnormalities.
      Title: Biallelic ZNFX1 variants are associated with a spectrum of immuno-hematological abnormalities.
    4. Inherited deficiency of stress granule ZNFX1 in patients with monocytosis and mycobacterial disease.
      Title: Inherited deficiency of stress granule ZNFX1 in patients with monocytosis and mycobacterial disease.
    5. Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency.
      Title: Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency.
    6. LncRNA ZNFX1-AS1 targeting miR-193a-3p/SDC1 regulates cell proliferation, migration and invasion of bladder cancer cells.
      Title: LncRNA ZNFX1-AS1 targeting miR-193a-3p/SDC1 regulates cell proliferation, migration and invasion of bladder cancer cells.
    7. This study suggests a regulatory network in which ZFAS1 is capable of enhancing c-Myc expression by inducing the expression of YAP1, TEAD1, and KDM3A through crosstalk with their upstream miRNAs, thereby globally promoting prostate cancer tumorigenesis.
      Title: ZNFX1 anti-sense RNA 1 promotes the tumorigenesis of prostate cancer by regulating c-Myc expression via a regulatory network of competing endogenous RNAs.
    8. long noncoding RNA ZNFX1 antisense RNA expression was lower in survivor group compared to nonsurvivor group, and it presented with a good predictive value on distinguishing nonsurvivors from survivors in sepsis patients.
      Title: Circulating long noncoding RNA ZNFX1 antisense RNA negatively correlates with disease risk, severity, inflammatory markers, and predicts poor prognosis in sepsis patients.
    9. MAD-CaP-5 (KIAA1404) is a novel prostate cancer antigen.
      Title: Antigen-specific IgG elicited in subjects with prostate cancer treated with flt3 ligand.
    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

    Associated conditions

    Description Tests
    Immunodeficiency 91 and hyperinflammation
    MedGen: C5562073 OMIM: 619644 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    A novel common variant in DCST2 is associated with length in early life and height in adulthood.
    EBI GWAS Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    EBI GWAS Catalog

    Variation

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    See Variation Viewer (GRCh37.p13)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ39275, MGC131926

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables helicase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in activation of innate immune response ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in defense response to bacterium IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in defense response to virus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in innate immune response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of viral genome replication ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulatory ncRNA-mediated heterochromatin formation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasmic stress granule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in mitochondrial outer membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of nuclear RNA-directed RNA polymerase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    NFX1-type zinc finger-containing protein 1

    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_021035.3 → NP_066363.1  NFX1-type zinc finger-containing protein 1

      See identical proteins and their annotated locations for NP_066363.1

      Status: VALIDATED

      Source sequence(s)
      AB037825, AK096594, AL049766, AU140771, DA809204
      Consensus CDS
      CCDS13417.1
      UniProtKB/Swiss-Prot
      Q9BQM7, Q9BQM8, Q9H8C1, Q9H9S2, Q9NUM1, Q9NWW1, Q9P2E3
      Related
      ENSP00000379412.1, ENST00000396105.6
      Conserved Domains (6) summary
      cd06008
      Location:1461 → 1505
      NF-X1-zinc-finger; Presumably a zinc binding domain, which has been shown to bind to DNA in the human nuclear transcriptional repressor NF-X1. The zinc finger can be characterized by the pattern C-X(1-6)-H-X-C-X3-C(H/C)-X(3-4)-(H/C)-X(1-10)-C. The NF-X1 zinc finger ...
      COG1112
      Location:903 → 1254
      DNA2; Superfamily I DNA and/or RNA helicase [Replication, recombination and repair]
      pfam13086
      Location:597 → 1038
      AAA_11; AAA domain
      pfam13087
      Location:1051 → 1234
      AAA_12; AAA domain
      pfam13245
      Location:604 → 667
      AAA_19; Part of AAA domain
      pfam15042
      Location:1498 → 1562
      LELP1; Late cornified envelope-like proline-rich protein 1

    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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      49245900..49278057 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      51015403..51047555 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P2E3.2 GenPept UniProtKB/Swiss-Prot:Q9P2E3

    Gene LinkOut

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

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