Zinc finger nfx1-type containing 1

ZNFX1
Identifiers
Aliases	ZNFX1, zinc finger NFX1-type containing 1, IMD91
External IDs	MGI: 2138982; HomoloGene: 10877; GeneCards: ZNFX1; OMA:ZNFX1 - orthologs
Gene location (Human)
Chr.	Chromosome 20 (human)
End	49,278,426 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	166,904,935 bp
RNA expression pattern
	Top expressed in
	cardiac muscle tissue of right atrium; ; myocardium of left ventricle; ; cartilage tissue; ; nasal epithelium; ; skin of arm; ; pancreatic ductal cell; ; decidua; ; tibialis anterior muscle; ; saphenous vein; ; blood;
	Top expressed in
	zygote; ; secondary oocyte; ; granulocyte; ; superior frontal gyrus; ; stroma of bone marrow; ; muscle of thigh; ; primary visual cortex; ; cardiac muscle tissue of left ventricle; ; primary oocyte; ; dentate gyrus of hippocampal formation granule cell;
	More reference expression data
	n/a
Gene ontology
Molecular function	metal ion binding; DNA-binding transcription factor activity; zinc ion binding; RNA binding; DNA-binding transcription factor activity, RNA polymerase II-specific;
Cellular component	nucleus; chromosome, centromeric region; nuclear RNA-directed RNA polymerase complex;
Biological process	regulation of transcription, DNA-templated; regulation of transcription by RNA polymerase II; heterochromatin assembly by small RNA;
	Sources:Amigo / QuickGO
Orthologs
	57169
	98999
	ENSG00000124201
	ENSMUSG00000039501
	Q9P2E3
	Q8R151
	NM_021035
	NM_001033196; NM_001291162
	NP_066363
	NP_001028368; NP_001278091
	Wikidata
View/Edit Human	View/Edit Mouse

Zinc finger NFX1-type containing 1 is a protein that in humans is encoded by the ZNFX1 gene. ^[5]

Clinical significance

ZNFX1 deficiency in humans is associated with severe multisystem inflammatory disease.^[6] Affected individuals may develop liver, lung or kidney failure, seizures and hemophagocytic lymphohistiocytosis (HLH) upon viral infections. Intermittent monocytosis is a hallmark laboratory finding in ZNFX1 deficiency. The disorder is thought to result from alterations in the half-life of the mRNA of interferon-stimulated genes (ISG) and is also associated with poorer clearance of viral infections in monocytes.

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000124201 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000039501 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: Zinc finger NFX1-type containing 1". Retrieved 2017-11-10.
^ Vavassori S, Chou J, Faletti LE, Haunerdinger V, Opitz L, Joset P, et al. (August 2021). "Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency". The Journal of Allergy and Clinical Immunology. 148 (2): 381–393. doi:10.1016/j.jaci.2021.03.045. PMC 8569286. PMID 33872655.

Clinical significance

References

Further reading