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

    Gene ID: 57169, updated on 5-Mar-2024

    Summary

    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. Predicted to be involved in heterochromatin assembly by small RNA. Predicted to be part of nuclear RNA-directed RNA polymerase complex. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in lung (RPKM 11.1), spleen (RPKM 10.7) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ZNFX1 in Genome Data Viewer
    Location:
    20q13.13
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (49245900..49278057, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (51015403..51047555, complement)
    105.20220307 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

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

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    Preferred Names
    NFX1-type zinc finger-containing protein 1

    NCBI Reference Sequences (RefSeq)

    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_021035.3NP_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:14611505
      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:9031254
      DNA2; Superfamily I DNA and/or RNA helicase [Replication, recombination and repair]
      pfam13086
      Location:5971038
      AAA_11; AAA domain
      pfam13087
      Location:10511234
      AAA_12; AAA domain
      pfam13245
      Location:604667
      AAA_19; Part of AAA domain
      pfam15042
      Location:14981562
      LELP1; Late cornified envelope-like proline-rich protein 1

    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_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)