Human Gene PAXBP1 (ENST00000331923.9_7) from GENCODE V47lift37
  Description: PAX3 and PAX7 binding protein 1, transcript variant 3 (from RefSeq NR_027873.2)
Gencode Transcript: ENST00000331923.9_7
Gencode Gene: ENSG00000159086.15_9
Transcript (Including UTRs)
   Position: hg19 chr21:34,106,210-34,144,066 Size: 37,857 Total Exon Count: 18 Strand: -
Coding Region
   Position: hg19 chr21:34,107,261-34,143,979 Size: 36,719 Coding Exon Count: 18 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr21:34,106,210-34,144,066)mRNA (may differ from genome)Protein (917 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MGIOMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: GCFC1_HUMAN
DESCRIPTION: RecName: Full=GC-rich sequence DNA-binding factor 1;
FUNCTION: Possible transcription factor.
SUBCELLULAR LOCATION: Nucleus (Potential).
TISSUE SPECIFICITY: Ubiquitous.
SIMILARITY: Belongs to the GCF 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


-  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: 24.48 RPKM in Ovary
Total median expression: 553.78 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 -39.5087-0.454 Picture PostScript Text
3' UTR -226.901051-0.216 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
IPR012890 - GCFC
IPR022783 - GCFC_dom

Pfam Domains:
PF07842 - GC-rich sequence DNA-binding factor-like protein

ModBase Predicted Comparative 3D Structure on Q9Y5B6
FrontTopSide
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 orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsembl WormBase 
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0008134 transcription factor binding
GO:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0007517 muscle organ development
GO:0014842 regulation of skeletal muscle satellite cell proliferation
GO:0031062 positive regulation of histone methylation
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:2000288 positive regulation of myoblast proliferation

Cellular Component:
GO:0005634 nucleus
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AF208862 - Homo sapiens BM-020 mRNA, complete cds.
BC062992 - Homo sapiens cDNA clone IMAGE:5497083, containing frame-shift errors.
AK075042 - Homo sapiens cDNA FLJ90561 fis, clone OVARC1001132, weakly similar to GC-RICH SEQUENCE DNA-BINDING FACTOR (GCF).
AK128513 - Homo sapiens cDNA FLJ46670 fis, clone TRACH3008508, highly similar to GC-rich sequence DNA-binding factor homolog.
JD021343 - Sequence 2367 from Patent EP1572962.
JD023461 - Sequence 4485 from Patent EP1572962.
JD031859 - Sequence 12883 from Patent EP1572962.
AJ279080 - Homo sapiens mRNA for putative transcription factor (ORF1).
AJ279081 - Homo sapiens mRNA for putative transcription factor (ORF1), short splice variant.
AK093291 - Homo sapiens cDNA FLJ35972 fis, clone TESTI2013264, highly similar to GC-RICH SEQUENCE DNA-BINDING FACTOR HOMOLOG.
AF231920 - Homo sapiens chromosome 21 unknown mRNA.
AY033903 - Homo sapiens C21ORF66 isoform A (C21ORF66) mRNA, complete cds.
AY033906 - Homo sapiens C21ORF66 isoform D (C21ORF66) mRNA, complete cds.
BC156214 - Synthetic construct Homo sapiens clone IMAGE:100061553, MGC:190024 chromosome 21 open reading frame 66 (C21orf66) mRNA, encodes complete protein.
JD301891 - Sequence 282915 from Patent EP1572962.
BC017768 - Homo sapiens cDNA clone IMAGE:4282024, **** WARNING: chimeric clone ****.
JD147369 - Sequence 128393 from Patent EP1572962.
JD260028 - Sequence 241052 from Patent EP1572962.
JD289947 - Sequence 270971 from Patent EP1572962.
JD275587 - Sequence 256611 from Patent EP1572962.
BC005213 - Homo sapiens cDNA clone IMAGE:3960571.
AF153208 - Homo sapiens GC-rich sequence DNA-binding factor candidate (GCFC) mRNA, complete cds.
AY033904 - Homo sapiens C21ORF66 isoform B (C21ORF66) mRNA, complete cds.
JD410305 - Sequence 391329 from Patent EP1572962.
JD307389 - Sequence 288413 from Patent EP1572962.
JD292664 - Sequence 273688 from Patent EP1572962.
JD113783 - Sequence 94807 from Patent EP1572962.
AY033905 - Homo sapiens C21ORF66 isoform C (C21ORF66) mRNA, complete cds.
AK309404 - Homo sapiens cDNA, FLJ99445.
BC030539 - Homo sapiens chromosome 21 open reading frame 66, mRNA (cDNA clone IMAGE:4397726), complete cds.
BC084542 - Homo sapiens chromosome 21 open reading frame 66, mRNA (cDNA clone IMAGE:4860678), partial cds.

-  Other Names for This Gene
  Alternate Gene Symbols: C21orf66, D3DSE7, ENST00000331923.1, ENST00000331923.2, ENST00000331923.3, ENST00000331923.4, ENST00000331923.5, ENST00000331923.6, ENST00000331923.7, ENST00000331923.8, GCFC, GCFC1, NR_027873, PAXB1_HUMAN, Q96DU8, Q9NYQ0, Q9Y5B6, uc317tif.1, uc317tif.2
UCSC ID: ENST00000331923.9_7
RefSeq Accession: NM_016631.4
Protein: Q9Y5B6 (aka GCFC1_HUMAN)

-  Gene Model Information
  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.