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

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. 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

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_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency.
Title: Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency.
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.
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.
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.
MAD-CaP-5 (KIAA1404) is a novel prostate cancer antigen.
Title: Antigen-specific IgG elicited in subjects with prostate cancer treated with flt3 ligand.

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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	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 EBI GWAS CatalogPubMed
Hundreds of variants clustered in genomic loci and biological pathways affect human height. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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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

D11S2560 (e-PCR)
- UniSTS:37928

D8S2279 (e-PCR)
- UniSTS:473907

Z94429 (e-PCR)
- UniSTS:48437

AL030964 (e-PCR)
- UniSTS:65138

D11S3114 (e-PCR)
- UniSTS:152207

STS-N94383 (e-PCR)
- UniSTS:10898

D11S3316 (e-PCR)
- UniSTS:152558

SHGC-33731 (e-PCR)
- UniSTS:48383

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	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)

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