U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

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

Summary

Go to the top of the page Help
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Antigen-specific IgG elicited in subjects with prostate cancer treated with flt3 ligand. Dunphy EJ, et al. J Immunother, 2005 May-Jun. PMID 15838384
  2. Circulating long noncoding RNA ZNFX1 antisense RNA negatively correlates with disease risk, severity, inflammatory markers, and predicts poor prognosis in sepsis patients. Xu Y, et al. Medicine (Baltimore), 2019 Mar. PMID 30817573, Free PMC Article
  3. Biallelic ZNFX1 variants are associated with a spectrum of immuno-hematological abnormalities. Alawbathani S, et al. Clin Genet, 2022 Feb. PMID 34708404
  4. Inherited deficiency of stress granule ZNFX1 in patients with monocytosis and mycobacterial disease. Le Voyer T, et al. Proc Natl Acad Sci U S A, 2021 Apr 13. PMID 33876776, Free PMC Article
  5. Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency. Vavassori S, et al. J Allergy Clin Immunol, 2021 Aug. PMID 33872655, Free PMC Article

See all (42) citations in PubMed

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

Go to the top of the page Help

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
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

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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

Go to the top of the page Help
Preferred Names
NFX1-type zinc finger-containing protein 1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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_021035.3 → 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.

Chemical Information
Molecular Biology Databases
Research Materials
Tools