NFIA
Nuclear factor 1 A-type
Also known as: KIAA1439, NFI-L, NFIA_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q12857
- Gene
- NFIA
- Ensembl
- ENSG00000162599
- Chromosome
- 1
- Canonical length
- 509 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm
- Quaternary structure
- Homodimer
OverviewNCBI Gene
This gene encodes a member of the NF1 (nuclear factor 1) family of transcription factors. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
Canonical amino-acid sequenceUniProt
509 residues, UniProt reviewed canonical sequence.
>Q12857|NFIA
1 MYSPLCLTQD EFHPFIEALL PHVRAFAYTW FNLQARKRKY FKKHEKRMSK EEERAVKDEL
61 LSEKPEVKQK WASRLLAKLR KDIRPEYRED FVLTVTGKKP PCCVLSNPDQ KGKMRRIDCL
121 RQADKVWRLD LVMVILFKGI PLESTDGERL VKSPQCSNPG LCVQPHHIGV SVKELDLYLA
181 YFVHAADSSQ SESPSQPSDA DIKDQPENGH LGFQDSFVTS GVFSVTELVR VSQTPIAAGT
241 GPNFSLSDLE SSSYYSMSPG AMRRSLPSTS STSSTKRLKS VEDEMDSPGE EPFYTGQGRS
301 PGSGSQSSGW HEVEPGMPSP TTLKKSEKSG FSSPSPSQTS SLGTAFTQHH RPVITGPRAS
361 PHATPSTLHF PTSPIIQQPG PYFSHPAIRY HPQETLKEFV QLVCPDAGQQ AGQVGFLNPN
421 GSSQGKVHNP FLPTPMLPPP PPPPMARPVP LPVPDTKPPT TSTEGGAASP TSPTYSTPST
481 SPANRFVSVG PRDPSFVNIP QQTQSWYLGLocalizationUniProt · AlphaFold · HPA
Whether an antibody against NFIA 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)
- 0.54
- Highest tissue expression
- 37 nTPM
Expression across tissuesHPA
Tissue
- liver: 37 nTPM
- thyroid gland: 25 nTPM
- cerebellum: 24 nTPM
- adipose tissue: 23 nTPM
- blood vessel: 21 nTPM
- salivary gland: 18 nTPM
Single-cell type
- pituitary stem cells: 2,323 nCPM
- choroid plexus epithelial cells: 2,102 nCPM
- bergmann glia: 1,758 nCPM
- astrocytes: 1,728 nCPM
- ependymal cells: 1,672 nCPM
- erythrocyte progenitors: 1,438 nCPM
Immune cell
- memory CD8 T-cell: 2.7 nTPM
- basophil: 2.6 nTPM
- classical monocyte: 2.5 nTPM
- MAIT T-cell: 2.5 nTPM
- naive CD8 T-cell: 2.5 nTPM
- naive CD4 T-cell: 2.2 nTPM
Brain region
- cerebellum: 196 nTPM
- medulla oblongata: 149 nTPM
- spinal cord: 118 nTPM
- basal ganglia: 118 nTPM
- thalamus: 114 nTPM
- midbrain: 113 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about NFIA.
Disease | AllUniProt
Conditions NFIA is implicated in, by any mechanism.
- Brain malformations with or without urinary tract defects (BRMUTD) MIM:613735
Disease | GeneticClinVar
68 pathogenic / likely-pathogenic of 436 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Brain malformations with or without urinary tract defects
- Chromosome 1p32-p31 deletion syndrome
- Inborn genetic diseases
- NFIA-Related Disorder
- Cleft palate
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)
- 0.2
- gnomAD pLI
- 1
- gnomAD missense Z
- 3.23
- DepMap mean gene effect
- -0.11
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- BMP signaling pathway
- cartilage development
- cell morphogenesis
- DNA replication
- exit from mitosis
- gene expression
- glial cell fate specification
- glial cell proliferation
- limb morphogenesis
- neural precursor cell proliferation
- neuron fate specification
- positive regulation of transcription by RNA polymerase II
- regulation of DNA-templated transcription
- regulation of transcription by RNA polymerase II
- response to wounding
- retina development in camera-type eye
- synapse maturation
- ureter development
- viral genome replication
Molecular functions
- chromatin binding
- DNA-binding transcription activator activity, RNA polymerase II-specific
- DNA-binding transcription factor activity
- DNA-binding transcription factor activity, RNA polymerase II-specific
- DNA-binding transcription factor binding
- RNA polymerase II cis-regulatory region sequence-specific 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 NFIA 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 NFIA as an antibody target. Whether an autoantibody or antibody against NFIA could matter depends on whether native NFIA is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
NFIA 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 NFIA as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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