MHC class II gene expression is controlled primarily at the transcriptional level by transcription factors that bind to the X and Y boxes, two highly conserved elements in the proximal promoter of MHC class II genes. The protein encoded by this gene is a transcriptional repressor capable of binding to the conserved X box motif of HLA-DRA and other MHC class II genes in vitro. T... See more...

Aliases for NFX1 Gene

Aliases for NFX1 Gene

  • Nuclear Transcription Factor, X-Box Binding 1 2 3 5
  • Nuclear Transcription Factor, X Box-Binding Protein 1 3 4
  • Transcriptional Repressor NF-X1 3 4
  • NFX2 3 4
  • EC 2.3.2.- 4
  • TEG-42 3
  • Tex42 3

External Ids for NFX1 Gene

Previous GeneCards Identifiers for NFX1 Gene

  • GC09P033602
  • GC09P033459

Summaries for NFX1 Gene

Entrez Gene Summary for NFX1 Gene

  • MHC class II gene expression is controlled primarily at the transcriptional level by transcription factors that bind to the X and Y boxes, two highly conserved elements in the proximal promoter of MHC class II genes. The protein encoded by this gene is a transcriptional repressor capable of binding to the conserved X box motif of HLA-DRA and other MHC class II genes in vitro. The protein may play a role in regulating the duration of an inflammatory response by limiting the period in which class II MHC molecules are induced by IFN-gamma. Three alternative splice variants, each of which encodes a different isoform, have been identified. [provided by RefSeq, Jul 2008]

GeneCards Summary for NFX1 Gene

NFX1 (Nuclear Transcription Factor, X-Box Binding 1) is a Protein Coding gene. Diseases associated with NFX1 include Epidermodysplasia Verruciformis 1. Among its related pathways are PI3K-Akt signaling pathway and Apoptosis and survival Caspase cascade. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and DNA-binding transcription factor activity. An important paralog of this gene is NFXL1.

UniProtKB/Swiss-Prot Summary for NFX1 Gene

  • Binds to the X-box motif of MHC class II genes and represses their expression. May play an important role in regulating the duration of an inflammatory response by limiting the period in which MHC class II molecules are induced by interferon-gamma. Isoform 3 binds to the X-box motif of TERT promoter and represses its expression. Together with PABPC1 or PABPC4, isoform 1 acts as a coactivator for TERT expression. Mediates E2-dependent ubiquitination.

Gene Wiki entry for NFX1 Gene

Additional gene information for NFX1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NFX1 Gene

Genomics for NFX1 Gene

GeneHancer (GH) Regulatory Elements for NFX1 Gene

Promoters and enhancers for NFX1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NFX1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NFX1

Top Transcription factor binding sites by QIAGEN in the NFX1 gene promoter:
  • AP-1
  • ATF-2
  • c-Ets-1
  • c-Jun
  • c-Myc
  • LCR-F1
  • Max1
  • p53
  • STAT3

Genomic Locations for NFX1 Gene

Genomic Locations for NFX1 Gene
chr9:33,290,420-33,371,157
(GRCh38/hg38)
Size:
80,738 bases
Orientation:
Plus strand
chr9:33,290,418-33,371,155
(GRCh37/hg19)
Size:
80,738 bases
Orientation:
Plus strand

Genomic View for NFX1 Gene

Genes around NFX1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NFX1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NFX1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NFX1 Gene

Proteins for NFX1 Gene

  • Protein details for NFX1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q12986-NFX1_HUMAN
    Recommended name:
    Transcriptional repressor NF-X1
    Protein Accession:
    Q12986
    Secondary Accessions:
    • A8K6H8
    • Q5VXW6
    • Q96EL5
    • Q9BXI1

    Protein attributes for NFX1 Gene

    Size:
    1120 amino acids
    Molecular mass:
    124395 Da
    Quaternary structure:
    • Isoform 1 interacts with PABPC1 and PABPC4.
    • (Microbial infection) Isoform 1 and isoform 3 interact with human papillomavirus (HPV) type-16 E6 oncoprotein.
    SequenceCaution:
    • Sequence=AAA69517.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for NFX1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NFX1 Gene

Post-translational modifications for NFX1 Gene

  • Isoform 3 is polyubiquitinated in the presence of HPV16 E6 protein; which leads to proteasomal degradation. Isoform 1 is not polyubiquitinated.
  • Ubiquitination at Lys548 and Lys885
  • Modification sites at PhosphoSitePlus

Other Protein References for NFX1 Gene

No data available for DME Specific Peptides for NFX1 Gene

Domains & Families for NFX1 Gene

Gene Families for NFX1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for NFX1 Gene

Blocks:
  • Zn-finger-like, PHD finger
  • Zn-finger, RING
  • Single-stranded nucleic acid binding R3H
  • Zn-finger, NF-X1 type
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NFX1 Gene

GenScript: Design optimal peptide antigens:
  • NFX1 protein (A0JLR2_HUMAN)
  • Nuclear transcription factor, X box-binding protein 1 (NFX1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q12986

UniProtKB/Swiss-Prot:

NFX1_HUMAN :
  • The RING-type zinc finger domain interacts with an ubiquitin-conjugating enzyme (E2) and facilitates ubiquitination.
  • Belongs to the NFX1 family.
Domain:
  • The RING-type zinc finger domain interacts with an ubiquitin-conjugating enzyme (E2) and facilitates ubiquitination.
Family:
  • Belongs to the NFX1 family.
genes like me logo Genes that share domains with NFX1: view

Function for NFX1 Gene

Molecular function for NFX1 Gene

UniProtKB/Swiss-Prot Function:
Binds to the X-box motif of MHC class II genes and represses their expression. May play an important role in regulating the duration of an inflammatory response by limiting the period in which MHC class II molecules are induced by interferon-gamma. Isoform 3 binds to the X-box motif of TERT promoter and represses its expression. Together with PABPC1 or PABPC4, isoform 1 acts as a coactivator for TERT expression. Mediates E2-dependent ubiquitination.
UniProtKB/Swiss-Prot Induction:
By IFNG/IFN-gamma.

Enzyme Numbers (IUBMB) for NFX1 Gene

Phenotypes From GWAS Catalog for NFX1 Gene

Gene Ontology (GO) - Molecular Function for NFX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IDA 7964459
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific IDA 7964459
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
genes like me logo Genes that share ontologies with NFX1: view
genes like me logo Genes that share phenotypes with NFX1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NFX1

Clone Products

  • Addgene plasmids for NFX1

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NFX1 Gene

Localization for NFX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NFX1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NFX1 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 4
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (4)
  • Cytosol (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NFX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IBA 21873635
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IDA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with NFX1: view

Pathways & Interactions for NFX1 Gene

genes like me logo Genes that share pathways with NFX1: view

Pathways by source for NFX1 Gene

SIGNOR curated interactions for NFX1 Gene

Activates:

Gene Ontology (GO) - Biological Process for NFX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IDA 7964459
GO:0006355 regulation of transcription, DNA-templated IBA 21873635
GO:0006366 transcription by RNA polymerase II TAS 7964459
GO:0006954 inflammatory response TAS 7964459
GO:0016032 viral process IEA --
genes like me logo Genes that share ontologies with NFX1: view

Drugs & Compounds for NFX1 Gene

No Compound Related Data Available

Transcripts for NFX1 Gene

mRNA/cDNA for NFX1 Gene

4 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NFX1

Clone Products

  • Addgene plasmids for NFX1

Alternative Splicing Database (ASD) splice patterns (SP) for NFX1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b · 13c ^ 14 ^ 15a · 15b
SP1: -
SP2: -
SP3: - -
SP4:
SP5: - -
SP6: - -
SP7:
SP8:
SP9:

Relevant External Links for NFX1 Gene

GeneLoc Exon Structure for
NFX1

Expression for NFX1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NFX1 Gene

Protein differential expression in normal tissues from HIPED for NFX1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (22.5), Heart (14.5), Testis (9.2), and Placenta (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NFX1 Gene



Protein tissue co-expression partners for NFX1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NFX1

SOURCE GeneReport for Unigene cluster for NFX1 Gene:

Hs.413074

Evidence on tissue expression from TISSUES for NFX1 Gene

  • Nervous system(4.4)
  • Eye(4.1)
  • Skin(2.1)
genes like me logo Genes that share expression patterns with NFX1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NFX1 Gene

Orthologs for NFX1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NFX1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NFX1 31 30
  • 99.58 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NFX1 31 30
  • 92.24 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NFX1 31 30
  • 90.62 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Nfx1 17 31 30
  • 87.64 (n)
rat
(Rattus norvegicus)
Mammalia Nfx1 30
  • 87.34 (n)
oppossum
(Monodelphis domestica)
Mammalia NFX1 31
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NFX1 31
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves NFX1 30
  • 66.76 (n)
lizard
(Anolis carolinensis)
Reptilia NFX1 31
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nfx1 30
  • 63.95 (n)
Str.18256 30
zebrafish
(Danio rerio)
Actinopterygii LOC562071 30
  • 59.52 (n)
NFX1 31
  • 51 (a)
OneToOne
Dr.16086 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10796 30
fruit fly
(Drosophila melanogaster)
Insecta stc 31 32 30
  • 49.16 (n)
OneToOne
CG15011 32
  • 32 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008728 30
  • 48.9 (n)
worm
(Caenorhabditis elegans)
Secernentea nfx-1 31 30
  • 47.56 (n)
OneToOne
C16A3.7 32
  • 40 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FAP1 31 30
  • 47.09 (n)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E08317g 30
  • 46.92 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL213W 30
  • 46.81 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons NFXL1 30
  • 47.03 (n)
rice
(Oryza sativa)
Liliopsida Os06g0252300 30
  • 47.49 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC18.03 30
  • 47.58 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1841 31
  • 36 (a)
OneToOne
Species where no ortholog for NFX1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NFX1 Gene

ENSEMBL:
Gene Tree for NFX1 (if available)
TreeFam:
Gene Tree for NFX1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NFX1: view image

Paralogs for NFX1 Gene

Paralogs for NFX1 Gene

genes like me logo Genes that share paralogs with NFX1: view

Variants for NFX1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NFX1 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
rs2274866 - p.Pro1086Gln
rs2860036 - p.Pro760Ser
rs5017299 - p.His731Tyr

Additional dbSNP identifiers (rs#s) for NFX1 Gene

Structural Variations from Database of Genomic Variants (DGV) for NFX1 Gene

Variant ID Type Subtype PubMed ID
esv3576648 CNV gain 25503493
nsv1024207 CNV gain 25217958
nsv614146 CNV gain 21841781
nsv6524 CNV deletion 18451855
nsv8439 CNV loss 18304495
nsv950855 CNV deletion 24416366
nsv951697 CNV deletion 24416366

Variation tolerance for NFX1 Gene

Residual Variation Intolerance Score: 16.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.89; 59.18% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NFX1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NFX1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NFX1 Gene

Disorders for NFX1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for NFX1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
epidermodysplasia verruciformis 1
  • epidermodysplasia verruciformis, susceptibility to, 1
- elite association - COSMIC cancer census association via MalaCards
Search NFX1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NFX1

genes like me logo Genes that share disorders with NFX1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NFX1 Gene

Publications for NFX1 Gene

  1. A novel cysteine-rich sequence-specific DNA-binding protein interacts with the conserved X-box motif of the human major histocompatibility complex class II genes via a repeated Cys-His domain and functions as a transcriptional repressor. (PMID: 7964459) Song Z … Ono SJ (The Journal of experimental medicine 1994) 2 3 4 23 54
  2. NFX1-123 and poly(A) binding proteins synergistically augment activation of telomerase in human papillomavirus type 16 E6-expressing cells. (PMID: 17267499) Katzenellenbogen RA … Galloway DA (Journal of virology 2007) 3 4 54
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  4. Identification of a novel telomerase repressor that interacts with the human papillomavirus type-16 E6/E6-AP complex. (PMID: 15371341) Gewin L … Galloway DA (Genes & development 2004) 3 4 54
  5. Murine NFX.1: isolation and characterization of its messenger RNA, mapping of its chromosomal location and assessment of its developmental expression. (PMID: 12047746) Arlotta P … Ono SJ (Immunology 2002) 2 3 54

Products for NFX1 Gene

Sources for NFX1 Gene