Human Gene NFX1 (uc003zsq.3)
  Description: Homo sapiens nuclear transcription factor, X-box binding 1 (NFX1), transcript variant 1, mRNA.
RefSeq Summary (NM_002504): 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].
Transcript (Including UTRs)
   Position: hg19 chr9:33,290,418-33,371,155 Size: 80,738 Total Exon Count: 24 Strand: +
Coding Region
   Position: hg19 chr9:33,290,571-33,369,976 Size: 79,406 Coding Exon Count: 24 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:33,290,418-33,371,155)mRNA (may differ from genome)Protein (1120 aa)
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BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: NFX1_HUMAN
DESCRIPTION: RecName: Full=Transcriptional repressor NF-X1; EC=6.3.2.-; AltName: Full=Nuclear transcription factor, X box-binding protein 1;
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.
SUBUNIT: Isoform 1 and isoform 3 interact with human papillomavirus (HPV) type-16 E6 oncoprotein. Isoform 1 interacts with PABPC1 and PABPC4.
SUBCELLULAR LOCATION: Nucleus.
INDUCTION: By IFNG/IFN-gamma.
DOMAIN: The RING-type zinc finger domain interacts with an ubiquitin-conjugating enzyme (E2) and facilitates ubiquitination.
PTM: Isoform 3 is polyubiquitinated in the presence of HPV16 E6 protein; which leads to proteasomal degradation. Isoform 1 is not polyubiquitinated.
SIMILARITY: Belongs to the NFX1 family.
SIMILARITY: Contains 8 NF-X1-type zinc fingers.
SIMILARITY: Contains 1 R3H domain.
SIMILARITY: Contains 1 RING-type zinc finger.
SEQUENCE CAUTION: Sequence=AAA69517.1; Type=Frameshift; Positions=78, 202, 284;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 15.96 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 412.21 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -68.60153-0.448 Picture PostScript Text
3' UTR -343.971179-0.292 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001374 - R3H_ss-bd
IPR019786 - Zinc_finger_PHD-type_CS
IPR000967 - Znf_NFX1
IPR019787 - Znf_PHD-finger
IPR001841 - Znf_RING

Pfam Domains:
PF01422 - NF-X1 type zinc finger
PF01424 - R3H domain

SCOP Domains:
82708 - R3H domain
57850 - RING/U-box

ModBase Predicted Comparative 3D Structure on Q12986
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologGenome Browser
Gene DetailsGene Details   Gene Details
Gene SorterGene Sorter   Gene Sorter
 RGD   SGD
 Protein Sequence   Protein Sequence
 Alignment   Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0003676 nucleic acid binding
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0003723 RNA binding
GO:0008270 zinc ion binding
GO:0016740 transferase activity
GO:0046872 metal ion binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0006954 inflammatory response
GO:0016032 viral process
GO:0045347 negative regulation of MHC class II biosynthetic process

Cellular Component:
GO:0005634 nucleus
GO:0005730 nucleolus
GO:0005829 cytosol
GO:0005886 plasma membrane


-  Descriptions from all associated GenBank mRNAs
  AF332009 - Homo sapiens nuclear transcription factor NFX2 (NFX2) mRNA, complete cds.
AK291643 - Homo sapiens cDNA FLJ78663 complete cds, highly similar to Homo sapiens nuclear transcription factor, X-box binding 1 (NFX1), transcript variant 2, mRNA.
AL832342 - Homo sapiens mRNA; cDNA DKFZp451N035 (from clone DKFZp451N035).
AK225750 - Homo sapiens mRNA for nuclear transcription factor, X-box binding 1 isoform 3 variant, clone: FCC135G01.
BC012151 - Homo sapiens nuclear transcription factor, X-box binding 1, mRNA (cDNA clone MGC:20369 IMAGE:4558442), complete cds.
AB385216 - Synthetic construct DNA, clone: pF1KB9457, Homo sapiens NFX1 gene for transcriptional repressor NF-X1, complete cds, without stop codon, in Flexi system.
DQ895843 - Synthetic construct Homo sapiens clone IMAGE:100010303; FLH188211.01L; RZPDo839H09149D nuclear transcription factor, X-box binding 1 (NFX1) gene, encodes complete protein.
DQ893676 - Synthetic construct clone IMAGE:100006306; FLH188215.01X; RZPDo839H09150D nuclear transcription factor, X-box binding 1 (NFX1) gene, encodes complete protein.
JD058248 - Sequence 39272 from Patent EP1572962.
U15306 - Human cysteine-rich sequence-specific DNA-binding protein NFX1 mRNA, complete cds.
DQ571214 - Homo sapiens piRNA piR-31326, complete sequence.
BC006447 - Homo sapiens nuclear transcription factor, X-box binding 1, mRNA (cDNA clone IMAGE:3636513), partial cds.
DQ584586 - Homo sapiens piRNA piR-51698, complete sequence.
AK055847 - Homo sapiens cDNA FLJ31285 fis, clone KIDNE2007005.
BX647337 - Homo sapiens mRNA; cDNA DKFZp779G2416 (from clone DKFZp779G2416).
JD047336 - Sequence 28360 from Patent EP1572962.
JD089264 - Sequence 70288 from Patent EP1572962.
JD042250 - Sequence 23274 from Patent EP1572962.
JD053595 - Sequence 34619 from Patent EP1572962.
JD095834 - Sequence 76858 from Patent EP1572962.
JD248802 - Sequence 229826 from Patent EP1572962.
JD359334 - Sequence 340358 from Patent EP1572962.
JD262887 - Sequence 243911 from Patent EP1572962.
JD328421 - Sequence 309445 from Patent EP1572962.
JD479143 - Sequence 460167 from Patent EP1572962.
JD418480 - Sequence 399504 from Patent EP1572962.
JD085401 - Sequence 66425 from Patent EP1572962.
JD367942 - Sequence 348966 from Patent EP1572962.
JD403069 - Sequence 384093 from Patent EP1572962.
JD431553 - Sequence 412577 from Patent EP1572962.
JD269172 - Sequence 250196 from Patent EP1572962.
JD092665 - Sequence 73689 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A8K6H8, NFX1_HUMAN, NFX2, NM_002504, NP_002495, Q12986, Q5VXW6, Q96EL5, Q9BXI1
UCSC ID: uc003zsq.3
RefSeq Accession: NM_002504
Protein: Q12986 (aka NFX1_HUMAN)
CCDS: CCDS6538.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_002504.4
exon count: 24CDS single in 3' UTR: no RNA size: 4721
ORF size: 3363CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 6671.50frame shift in genome: no % Coverage: 99.45
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.