ZNFX1

Protein identityUniProt · HPA

UniProt accession

Q9P2E3

Gene

ZNFX1

Ensembl

ENSG00000124201

Chromosome

20

Canonical length

1918 aa

Protein class

Disease related genes, Plasma proteins, Predicted intracellular proteins, Transcription factors

Subcellular location

Mitochondria

OverviewNCBI Gene

Enables RNA binding activity. Involved in defense response to bacterium and defense response to virus. Is active in cytoplasmic stress granule. Implicated in immunodeficiency 91. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

1918 residues, UniProt reviewed canonical sequence.

>Q9P2E3|ZNFX1
     1  MEERRPHLDA RPRNSHTNHR GPVDGELPPR ARNQANNPPA NALRGGASHP GRHPRANNHP
    61  AAYWQREERF RAMGRNPHQG RRNQEGHASD EARDQRHDQE NDTRWRNGNQ DCRNRRPPWS
   121  NDNFQQWRTP HQKPTEQPQQ AKKLGYKFLE SLLQKDPSEV VITLATSLGL KELLSHSSMK
   181  SNFLELICQV LRKACSSKMD RQSVLHVLGI LKNSKFLKVC LPAYVVGMIT EPIPDIRNQY
   241  PEHISNIISL LQDLVSVFPA SSVQETSMLV SLLPTSLNAL RASGVDIEEE TEKNLEKVQT
   301  IIEHLQEKRR EGTLRVDTYT LVQPEAEDHV ESYRTMPIYP TYNEVHLDER PFLRPNIISG
   361  KYDSTAIYLD THFRLLREDF VRPLREGILE LLQSFEDQGL RKRKFDDIRI YFDTRIITPM
   421  CSSSGIVYKV QFDTKPLKFV RWQNSKRLLY GSLVCMSKDN FETFLFATVS NREQEDLCRG
   481  IVQLCFNEQS QQLLAEVQPS DSFLMVETTA YFEAYRHVLE GLQEVQEEDV PFQRNIVECN
   541  SHVKEPRYLL MGGRYDFTPL IENPSATGEF LRNVEGLRHP RINVLDPGQW PSKEALKLDD
   601  SQMEALQFAL TRELAIIQGP PGTGKTYVGL KIVQALLTNE SVWQISLQKF PILVVCYTNH
   661  ALDQFLEGIY NCQKTSIVRV GGRSNSEILK QFTLRELRNK REFRRNLPMH LRRAYMSIMT
   721  QMKESEQELH EGAKTLECTM RGVLREQYLQ KYISPQHWES LMNGPVQDSE WICFQHWKHS
   781  MMLEWLGLGV GSFTQSVSPA GPENTAQAEG DEEEEGEEES SLIEIAEEAD LIQADRVIEE
   841  EEVVRPQRRK KEESGADQEL AKMLLAMRLD HCGTGTAAGQ EQATGEWQTQ RNQKKKMKKR
   901  VKDELRKLNT MTAAEANEIE DVWQLDLSSR WQLYRLWLQL YQADTRRKIL SYERQYRTSA
   961  ERMAELRLQE DLHILKDAQV VGMTTTGAAK YRQILQKVEP RIVIVEEAAE VLEAHTIATL
  1021  SKACQHLILI GDHQQLRPSA NVYDLAKNFN LEVSLFERLV KVNIPFVRLN YQHRMCPEIA
  1081  RLLTPHIYQD LENHPSVLKY EKIKGVSSNL FFVEHNFPEQ EIQEGKSHQN QHEAHFVVEL
  1141  CKYFLCQEYL PSQITILTTY TGQLFCLRKL MPAKTFAGVR VHVVDKYQGE ENDIILLSLV
  1201  RSNQEGKVGF LQISNRICVA LSRAKKGMYC IGNMQMLAKV PLWSKIIHTL RENNQIGPML
  1261  RLCCQNHPET HTLVSKASDF QKVPEGGCSL PCEFRLGCGH VCTRACHPYD SSHKEFQCMK
  1321  PCQKVICQEG HRCPLVCFQE CQPCQVKVPK TIPRCGHEQM VPCSVPESDF CCQEPCSKSL
  1381  RCGHRCSHPC GEDCVQLCSE MVTIKLKCGH SQPVKCGHVE GLLYGGLLVK CTTKCGTILD
  1441  CGHPCPGSCH SCFEGRFHER CQQPCKRLLI CSHKCQEPCI GECPPCQRTC QNRCVHSQCK
  1501  KKCGELCSPC VEPCVWRCQH YQCTKLCSEP CNRPPCYVPC TKLLVCGHPC IGLCGEPCPK
  1561  KCRICHMDEV TQIFFGFEDE PDARFVQLED CSHIFEVQAL DRYMNEQKDD EVAIRLKVCP
  1621  ICQVPIRKNL RYGTSIKQRL EEIEIIKEKI QGSAGEIATS QERLKALLER KSLLHQLLPE
  1681  DFLMLKEKLA QKNLSVKDLG LVENYISFYD HLASLWDSLK KMHVLEEKRV RTRLEQVHEW
  1741  LAKKRLSFTS QELSDLRSEI QRLTYLVNLL TRYKIAEKKV KDSIAVEVYS VQNILEKTCK
  1801  FTQEDEQLVQ EKMEALKATL PCSGLGISEE ERVQIVSAIG YPRGHWFKCR NGHIYVIGDC
  1861  GGAMERGTCP DCKEVIGGTN HTLERSNQLA SEMDGAQHAA WSDTANNLMN FEEIQGMM

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ZNFX1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.32

Highest tissue expression

27 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ZNFX1.

Disease | AllUniProt

Conditions ZNFX1 is implicated in, by any mechanism.

• Immunodeficiency 91 and hyperinflammation (IMD91) MIM:619644

Disease | GeneticClinVar

11 pathogenic / likely-pathogenic of 311 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Immunodeficiency 91 and hyperinflammation
• ZNFX1-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.25

gnomAD pLI

1

gnomAD missense Z

2.56

DepMap mean gene effect

-0.08

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• activation of innate immune response
• defense response to bacterium
• defense response to virus
• innate immune response
• negative regulation of viral genome replication
• regulatory ncRNA-mediated heterochromatin formation

Molecular functions

• helicase activity
• RNA binding
• zinc ion binding

Cellular components

• cytoplasmic stress granule
• mitochondrial outer membrane
• nuclear RNA-directed RNA polymerase complex

Protein domainsUniProt · Pfam · InterPro

• Zinc finger, NF-X1-type
• Armadillo-type fold
• P-loop containing nucleoside triphosphate hydrolase
• DNA2/NAM7 helicase, helicase domain
• DNA2/NAM7 helicase-like, C-terminal
• DNA2/NAM7-like helicase
• Zinc finger, RZ-type
• Upf1-like, C-terminal helicase domain
• AAA domain
• AAA domain
• RZ type zinc finger domain
• ZNFX1 domain
• ZNFX1 domain

KeywordsUniProt

• Antiviral defense
• Coiled coil
• Cytoplasm
• Immunity
• Innate immunity
• Membrane
• Metal-binding
• Mitochondrion
• Mitochondrion outer membrane
• Repeat
• RNA-binding
• Zinc
• Zinc-finger

InteractionsUniProt · HPA

Protein binding partners of ZNFX1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• MAVS