Human Gene NAB1 (uc002usb.3)
  Description: Homo sapiens NGFI-A binding protein 1 (EGR1 binding protein 1) (NAB1), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr2:191,513,848-191,557,492 Size: 43,645 Total Exon Count: 10 Strand: +
Coding Region
   Position: hg19 chr2:191,523,903-191,555,059 Size: 31,157 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:191,513,848-191,557,492)mRNA (may differ from genome)Protein (487 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedTreefamUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: NAB1_HUMAN
DESCRIPTION: RecName: Full=NGFI-A-binding protein 1; AltName: Full=EGR-1-binding protein 1; AltName: Full=Transcriptional regulatory protein p54;
FUNCTION: Acts as a transcriptional repressor for zinc finger transcription factors EGR1 and EGR2 (By similarity).
SUBUNIT: Homomultimers may associate with EGR1 bound to DNA (By similarity).
SUBCELLULAR LOCATION: Nucleus (By similarity).
TISSUE SPECIFICITY: Isoform Short is found in a myeloid leukemia cell line.
DOMAIN: The NAB conserved domain 1 (NCD1) interacts with EGR1 inhibitory domain and mediates multimerization.
DOMAIN: The NAB conserved domain 2 (NCD2) is necessary for transcriptional repression.
SIMILARITY: Belongs to the NAB family.

-  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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): NAB1
CDC HuGE Published Literature: NAB1
Positive Disease Associations: Aorta , Blood Pressure , Liver Cirrhosis, Biliary , Triglycerides
Related Studies:
  1. Aorta
    Christopher J O'Donnell et al. BMC medical genetics 2007, Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study., BMC medical genetics. [PubMed 17903303]
    The results from this GWAS generate hypotheses regarding several SNPs that may be associated with SCA phenotypes in multiple arterial beds. Given the number of tests conducted, subsequent independent replication in a staged approach is essential to identify genetic variants that may be implicated in atherosclerosis.
  2. Blood Pressure
    Daniel Levy et al. BMC medical genetics 2007, Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness., BMC medical genetics. [PubMed 17903302]
    These results of genome-wide association testing for blood pressure and arterial stiffness phenotypes in an unselected community-based sample of adults may aid in the identification of the genetic basis of hypertension and arterial disease, help identify high risk individuals, and guide novel therapies for hypertension. Additional studies are needed to replicate any associations identified in these analyses.
  3. Liver Cirrhosis, Biliary
    George F Mells et al. Nature genetics 2011, Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis., Nature genetics. [PubMed 21399635]
           more ... click here to view the complete list

-  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: 21.77 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 563.85 RPKM



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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -243.00572-0.425 Picture PostScript Text
3' UTR -569.322433-0.234 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
IPR006986 - Nab1_C
IPR006989 - NAB_co-repressor_dom
IPR006988 - Nab_N

Pfam Domains:
PF04902 - Conserved region in Nab1
PF04904 - NAB conserved region 1 (NCD1)
PF04905 - NAB conserved region 2 (NCD2)

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2YUF - NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q13506
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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 orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0008134 transcription factor binding

Biological Process:
GO:0001958 endochondral ossification
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0014037 Schwann cell differentiation
GO:0042552 myelination
GO:0045682 regulation of epidermis development
GO:0045892 negative regulation of transcription, DNA-templated

Cellular Component:
GO:0005634 nucleus


-  Descriptions from all associated GenBank mRNAs
  BC035724 - Homo sapiens NGFI-A binding protein 1 (EGR1 binding protein 1), mRNA (cDNA clone MGC:46150 IMAGE:5721972), complete cds.
AK292446 - Homo sapiens cDNA FLJ75800 complete cds, highly similar to Homo sapiens NGFI-A binding protein 1 (EGR1 binding protein 1) (NAB1), mRNA.
AK313542 - Homo sapiens cDNA, FLJ94102.
AF045452 - Homo sapiens cell-line KG1 transcriptional regulatory protein p54 mRNA, complete cds.
U47007 - Human transcriptional repressor (NAB1) NAB1 mRNA, complete cds.
AF045451 - Homo sapiens transcriptional regulatory protein p54 mRNA, complete cds.
AB385579 - Synthetic construct DNA, clone: pF1KB9448, Homo sapiens NAB1 gene for NGFI-A-binding protein 1, complete cds, without stop codon, in Flexi system.
EU176565 - Synthetic construct Homo sapiens clone IMAGE:100011382; FLH170035.01L; RZPDo839E11253D NGFI-A binding protein 1 (EGR1 binding protein 1) (NAB1) gene, encodes complete protein.
DQ891192 - Synthetic construct clone IMAGE:100003822; FLH170036.01X; RZPDo839B0198D NGFI-A binding protein 1 (EGR1 binding protein 1) (NAB1) gene, encodes complete protein.
JD232970 - Sequence 213994 from Patent EP1572962.
JD096194 - Sequence 77218 from Patent EP1572962.
AK296549 - Homo sapiens cDNA FLJ61129 complete cds, highly similar to NGFI-A-binding protein 1.
JD182023 - Sequence 163047 from Patent EP1572962.
JD284883 - Sequence 265907 from Patent EP1572962.
JD233670 - Sequence 214694 from Patent EP1572962.
JD225802 - Sequence 206826 from Patent EP1572962.
JD334224 - Sequence 315248 from Patent EP1572962.
JD566459 - Sequence 547483 from Patent EP1572962.
JD273680 - Sequence 254704 from Patent EP1572962.
JD280559 - Sequence 261583 from Patent EP1572962.
JD507284 - Sequence 488308 from Patent EP1572962.
JD330663 - Sequence 311687 from Patent EP1572962.
JD503822 - Sequence 484846 from Patent EP1572962.
JD059288 - Sequence 40312 from Patent EP1572962.
JD087462 - Sequence 68486 from Patent EP1572962.
JD563119 - Sequence 544143 from Patent EP1572962.
JD060875 - Sequence 41899 from Patent EP1572962.
JD295487 - Sequence 276511 from Patent EP1572962.
JD250995 - Sequence 232019 from Patent EP1572962.
JD236448 - Sequence 217472 from Patent EP1572962.
JD557838 - Sequence 538862 from Patent EP1572962.
JD498156 - Sequence 479180 from Patent EP1572962.
JD496923 - Sequence 477947 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: NAB1_HUMAN, NM_005966, NP_005957, O75383, O75384, Q13506, Q6GTU1, Q9UEV1
UCSC ID: uc002usb.3
RefSeq Accession: NM_005966
Protein: Q13506 (aka NAB1_HUMAN)
CCDS: CCDS2307.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_005966.3
exon count: 10CDS single in 3' UTR: no RNA size: 4499
ORF size: 1464CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2826.50frame shift in genome: no % Coverage: 99.33
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.