Human Gene GABPB1 (ENST00000380877.8) from GENCODE V44
  Description: Homo sapiens GA binding protein transcription factor subunit beta 1 (GABPB1), transcript variant beta-2, mRNA. (from RefSeq NM_016654)
RefSeq Summary (NM_016654): This gene encodes the GA-binding protein transcription factor, beta subunit. This protein forms a tetrameric complex with the alpha subunit, and stimulates transcription of target genes. The encoded protein may be involved in activation of cytochrome oxidase expression and nuclear control of mitochondrial function. The crystal structure of a similar protein in mouse has been resolved as a ternary protein complex. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008].
Gencode Transcript: ENST00000380877.8
Gencode Gene: ENSG00000104064.18
Transcript (Including UTRs)
   Position: hg38 chr15:50,275,389-50,355,198 Size: 79,810 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg38 chr15:50,278,632-50,309,798 Size: 31,167 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:50,275,389-50,355,198)mRNA (may differ from genome)Protein (383 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMGIneXtProtOMIM
PubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: GABP1_HUMAN
DESCRIPTION: RecName: Full=GA-binding protein subunit beta-1; Short=GABP subunit beta-1; Short=GABPB-1; AltName: Full=GABP subunit beta-2; Short=GABPB-2; AltName: Full=Nuclear respiratory factor 2; AltName: Full=Transcription factor E4TF1-47; AltName: Full=Transcription factor E4TF1-53;
FUNCTION: Transcription factor capable of interacting with purine rich repeats (GA repeats). Necessary for the expression of the Adenovirus E4 gene.
SUBUNIT: Heterotetramer of two alpha and two beta subunits. Interacts with HCFC1, causing repression of transcriptional activity.
INTERACTION: P51610:HCFC1; NbExp=3; IntAct=EBI-618165, EBI-396176; Q96M61:MAGEB18; NbExp=3; IntAct=EBI-618165, EBI-741835;
SUBCELLULAR LOCATION: Nucleus.
SIMILARITY: Contains 5 ANK repeats.

-  Primer design for this transcript
 

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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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 10.83 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 175.44 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 -86.30214-0.403 Picture PostScript Text
3' UTR -785.603243-0.242 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
IPR002110 - Ankyrin_rpt
IPR020683 - Ankyrin_rpt-contain_dom

Pfam Domains:
PF00023 - Ankyrin repeat

ModBase Predicted Comparative 3D Structure on Q06547
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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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0005515 protein binding
GO:0044212 transcription regulatory region DNA binding
GO:0046982 protein heterodimerization activity

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0007005 mitochondrion organization
GO:0045944 positive regulation of transcription from RNA polymerase II promoter

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0036464 cytoplasmic ribonucleoprotein granule


-  Descriptions from all associated GenBank mRNAs
  BC036080 - Homo sapiens GA binding protein transcription factor, beta subunit 1, mRNA (cDNA clone MGC:33732 IMAGE:5295830), complete cds.
U13045 - Human nuclear respiratory factor-2 subunit beta 1 mRNA, complete cds.
U13046 - Human nuclear respiratory factor-2 subunit beta 2 mRNA, complete cds.
BC050702 - Homo sapiens GA binding protein transcription factor, beta subunit 1, mRNA (cDNA clone MGC:60300 IMAGE:5784775), complete cds.
AK303901 - Homo sapiens cDNA FLJ57282 complete cds, highly similar to GA-binding protein beta chain.
AK301350 - Homo sapiens cDNA FLJ60177 complete cds, highly similar to GA-binding protein beta chain.
D13317 - Homo sapiens mRNA for transcription factor E4TF1-53, complete cds.
U13047 - Human nuclear respiratory factor-2 subunit gamma 1 mRNA, complete cds.
U13048 - Human nuclear respiratory factor-2 subunit gamma 2 mRNA, complete cds.
BC016910 - Homo sapiens GA binding protein transcription factor, beta subunit 1, mRNA (cDNA clone MGC:21080 IMAGE:4428422), complete cds.
D13316 - Homo sapiens mRNA for transcription factor E4TF1-47, complete cds.
JD428787 - Sequence 409811 from Patent EP1572962.
JD089179 - Sequence 70203 from Patent EP1572962.
JD060996 - Sequence 42020 from Patent EP1572962.
JD078467 - Sequence 59491 from Patent EP1572962.
JD146665 - Sequence 127689 from Patent EP1572962.
JD248469 - Sequence 229493 from Patent EP1572962.
JD306877 - Sequence 287901 from Patent EP1572962.
EU159454 - Homo sapiens nuclear respiratory factor 2 beta subunit 2 transcript variant beta-1 mRNA, complete cds.
JD329973 - Sequence 310997 from Patent EP1572962.
JD331153 - Sequence 312177 from Patent EP1572962.
KJ891212 - Synthetic construct Homo sapiens clone ccsbBroadEn_00606 GABPB1 gene, encodes complete protein.
DQ894132 - Synthetic construct Homo sapiens clone IMAGE:100008592; FLH168023.01L; RZPDo839B0391D GA binding protein transcription factor, beta subunit 2 (GABPB2) gene, encodes complete protein.
EU446507 - Synthetic construct Homo sapiens clone IMAGE:100070195; IMAGE:100011716; FLH257342.01L GA binding protein transcription factor, beta subunit 2 (GABPB2) gene, encodes complete protein.
KJ905751 - Synthetic construct Homo sapiens clone ccsbBroadEn_15421 GABPB1 gene, encodes complete protein.
AB587455 - Synthetic construct DNA, clone: pF1KB7954, Homo sapiens GABPB1 gene for GA binding protein transcription factor, beta subunit 1, without stop codon, in Flexi system.
JQ313901 - Homo sapiens GA binding protein transcription factor beta subunit 1 transcript variant gamma-2 (GABPB1) mRNA, complete cds.
BT006652 - Homo sapiens GA binding protein transcription factor, beta subunit 2, 47kDa mRNA, complete cds.
KJ905752 - Synthetic construct Homo sapiens clone ccsbBroadEn_15422 GABPB1 gene, encodes complete protein.
CU690288 - Synthetic construct Homo sapiens gateway clone IMAGE:100018188 5' read GABPB2 mRNA.
CU677763 - Synthetic construct Homo sapiens gateway clone IMAGE:100019081 5' read GABPB2 mRNA.
CU690772 - Synthetic construct Homo sapiens gateway clone IMAGE:100021367 5' read GABPB2 mRNA.
JD139754 - Sequence 120778 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q06547 (Reactome details) participates in the following event(s):

R-HSA-1592240 Formation of NRF2
R-HSA-1592236 NRF1:p-PPARGC1A, NRF2 bind the TFB1M promoter
R-HSA-1592249 NRF1, PPRC1, NRF2 bind the TFAM promoter
R-HSA-1592250 NRF1, PPRC1:HCFC1:NRF2 bind the TFB1M promoter
R-HSA-2466367 NRF1, PPRC1:HCFC1:NRF2 bind the TFB2M promoter
R-HSA-2466391 NRF1:p-PPARGC1A, NRF2 bind the TFAM promoter
R-HSA-2466392 NRF1:p-PPARGC1A, NRF2 bind the TFB2M promoter
R-HSA-2151201 Transcriptional activation of mitochondrial biogenesis
R-HSA-1592230 Mitochondrial biogenesis
R-HSA-1852241 Organelle biogenesis and maintenance
R-HSA-1592240 Formation of NRF2
R-HSA-1592236 NRF1:p-PPARGC1A, NRF2 bind the TFB1M promoter
R-HSA-1592249 NRF1, PPRC1, NRF2 bind the TFAM promoter
R-HSA-1592250 NRF1, PPRC1:HCFC1:NRF2 bind the TFB1M promoter
R-HSA-2466367 NRF1, PPRC1:HCFC1:NRF2 bind the TFB2M promoter
R-HSA-2466391 NRF1:p-PPARGC1A, NRF2 bind the TFAM promoter
R-HSA-2466392 NRF1:p-PPARGC1A, NRF2 bind the TFB2M promoter
R-HSA-2151201 Transcriptional activation of mitochondrial biogenesis
R-HSA-1592230 Mitochondrial biogenesis
R-HSA-1852241 Organelle biogenesis and maintenance
R-HSA-1592240 Formation of NRF2
R-HSA-1592236 NRF1:p-PPARGC1A, NRF2 bind the TFB1M promoter
R-HSA-1592249 NRF1, PPRC1, NRF2 bind the TFAM promoter
R-HSA-1592250 NRF1, PPRC1:HCFC1:NRF2 bind the TFB1M promoter
R-HSA-2466367 NRF1, PPRC1:HCFC1:NRF2 bind the TFB2M promoter
R-HSA-2466391 NRF1:p-PPARGC1A, NRF2 bind the TFAM promoter
R-HSA-2466392 NRF1:p-PPARGC1A, NRF2 bind the TFB2M promoter
R-HSA-2151201 Transcriptional activation of mitochondrial biogenesis
R-HSA-1592230 Mitochondrial biogenesis
R-HSA-1852241 Organelle biogenesis and maintenance
R-HSA-1592240 Formation of NRF2
R-HSA-1592236 NRF1:p-PPARGC1A, NRF2 bind the TFB1M promoter
R-HSA-1592249 NRF1, PPRC1, NRF2 bind the TFAM promoter
R-HSA-1592250 NRF1, PPRC1:HCFC1:NRF2 bind the TFB1M promoter
R-HSA-2466367 NRF1, PPRC1:HCFC1:NRF2 bind the TFB2M promoter
R-HSA-2466391 NRF1:p-PPARGC1A, NRF2 bind the TFAM promoter
R-HSA-2466392 NRF1:p-PPARGC1A, NRF2 bind the TFB2M promoter
R-HSA-2151201 Transcriptional activation of mitochondrial biogenesis
R-HSA-1592230 Mitochondrial biogenesis
R-HSA-1852241 Organelle biogenesis and maintenance

-  Other Names for This Gene
  Alternate Gene Symbols: A8IE52, E4TF1B, ENST00000380877.1, ENST00000380877.2, ENST00000380877.3, ENST00000380877.4, ENST00000380877.5, ENST00000380877.6, ENST00000380877.7, GABP1_HUMAN, GABPB, GABPB2, NM_016654, Q06545, Q06547, Q12940, Q12941, Q12942, Q8IYD0, uc001zya.1, uc001zya.2, uc001zya.3, uc001zya.4, uc001zya.5
UCSC ID: ENST00000380877.8
RefSeq Accession: NM_016654
Protein: Q06547 (aka GABP1_HUMAN)
CCDS: CCDS10135.1, CCDS32239.1

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