NFIX
Nuclear factor 1 X-type
Also known as: NF1A, NFIX_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q14938
- Gene
- NFIX
- Ensembl
- ENSG00000008441
- Chromosome
- 19
- Canonical length
- 502 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm
- Quaternary structure
- Homodimer
OverviewNCBI Gene
The protein encoded by this gene is a transcription factor that binds the palindromic sequence 5'-TTGGCNNNNNGCCAA-3 in viral and cellular promoters. The encoded protein can also stimulate adenovirus replication in vitro. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2012]
Canonical amino-acid sequenceUniProt
502 residues, UniProt reviewed canonical sequence.
>Q14938|NFIX
1 MYSPYCLTQD EFHPFIEALL PHVRAFSYTW FNLQARKRKY FKKHEKRMSK DEERAVKDEL
61 LGEKPEIKQK WASRLLAKLR KDIRPEFRED FVLTITGKKP PCCVLSNPDQ KGKIRRIDCL
121 RQADKVWRLD LVMVILFKGI PLESTDGERL YKSPQCSNPG LCVQPHHIGV TIKELDLYLA
181 YFVHTPESGQ SDSSNQQGDA DIKPLPNGHL SFQDCFVTSG VWNVTELVRV SQTPVATASG
241 PNFSLADLES PSYYNINQVT LGRRSITSPP STSTTKRPKS IDDSEMESPV DDVFYPGTGR
301 SPAAGSSQSS GWPNDVDAGP ASLKKSGKLD FCSALSSQGS SPRMAFTHHP LPVLAGVRPG
361 SPRATASALH FPSTSIIQQS SPYFTHPTIR YHHHHGQDSL KEFVQFVCSD GSGQATGQPN
421 GSGQGKVPGS FLLPPPPPVA RPVPLPMPDS KSTSTAPDGA ALTPPSPSFA TTGASSANRF
481 VSIGPRDGNF LNIPQQSQSW FLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against NFIX 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
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.55
- Highest tissue expression
- 391 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 391 nTPM
- tongue: 148 nTPM
- salivary gland: 143 nTPM
- cerebellum: 135 nTPM
- cerebral cortex: 103 nTPM
- skin: 94 nTPM
Single-cell type
- pituitary stem cells: 336 nCPM
- prostatic glandular cells: 322 nCPM
- ependymal cells: 271 nCPM
- myonuclei: 267 nCPM
- oligodendrocytes: 265 nCPM
- salivary acinar cells: 251 nCPM
Immune cell
- gdT-cell: 0.5 nTPM
- MAIT T-cell: 0.5 nTPM
- intermediate monocyte: 0.2 nTPM
- naive B-cell: 0.2 nTPM
- naive CD4 T-cell: 0.2 nTPM
- basophil: 0.1 nTPM
Brain region
- cerebellum: 397 nTPM
- white matter: 390 nTPM
- cerebral cortex: 386 nTPM
- basal ganglia: 346 nTPM
- hippocampal formation: 289 nTPM
- medulla oblongata: 287 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about NFIX.
Disease | AllUniProt
Conditions NFIX is implicated in, by any mechanism.
- Malan syndrome (MALNS) MIM:614753
- Marshall-Smith syndrome (MRSHSS) MIM:602535
Disease | GeneticClinVar
176 pathogenic / likely-pathogenic of 517 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Malan overgrowth syndrome
- Marshall-Smith syndrome
- NFIX-related disorder
- Inborn genetic diseases
- Intellectual disability
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)
- 0.15
- gnomAD pLI
- 1
- gnomAD missense Z
- 4.08
- DepMap mean gene effect
- 0.04
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- DNA replication
- negative regulation of transcription by RNA polymerase II
- positive regulation of transcription by RNA polymerase II
- regulation of transcription by RNA polymerase II
- transcription by RNA polymerase II
Molecular functions
- DNA-binding transcription factor activity
- DNA-binding transcription factor activity, RNA polymerase II-specific
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- sequence-specific double-stranded DNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- CTF transcription factor/nuclear factor 1
- MAD homology 1, Dwarfin-type
- CTF transcription factor/nuclear factor 1, N-terminal
- CTF transcription factor/nuclear factor 1, conserved site
- CTF transcription factor/nuclear factor 1, DNA-binding domain
- CTF/NF-I family transcription modulation region
- MH1 domain
- Nuclear factor I protein pre-N-terminus
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of NFIX in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads NFIX as an antibody target. Whether an autoantibody or antibody against NFIX could matter depends on whether native NFIX is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
NFIX is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label NFIX as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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