Human Gene GABPA (uc002yly.4)
  Description: Homo sapiens GA binding protein transcription factor, alpha subunit 60kDa (GABPA), transcript variant 1, mRNA.
RefSeq Summary (NM_002040): This gene encodes one of three GA-binding protein transcription factor subunits which functions as a DNA-binding subunit. Since this subunit shares identity with a subunit encoding the nuclear respiratory factor 2 gene, it is likely involved in activation of cytochrome oxidase expression and nuclear control of mitochondrial function. This subunit also shares identity with a subunit constituting the transcription factor E4TF1, responsible for expression of the adenovirus E4 gene. Because of its chromosomal localization and ability to form heterodimers with other polypeptides, this gene may play a role in the Down Syndrome phenotype. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2010].
Transcript (Including UTRs)
   Position: hg19 chr21:27,107,329-27,144,771 Size: 37,443 Total Exon Count: 10 Strand: +
Coding Region
   Position: hg19 chr21:27,113,910-27,141,543 Size: 27,634 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr21:27,107,329-27,144,771)mRNA (may differ from genome)Protein (454 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: GABPA_HUMAN
DESCRIPTION: RecName: Full=GA-binding protein alpha chain; Short=GABP subunit alpha; AltName: Full=Nuclear respiratory factor 2 subunit alpha; AltName: Full=Transcription factor E4TF1-60;
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.
INTERACTION: P51610:HCFC1; NbExp=2; IntAct=EBI-638925, EBI-396176;
SUBCELLULAR LOCATION: Nucleus.
SIMILARITY: Belongs to the ETS family.
SIMILARITY: Contains 1 ETS DNA-binding domain.
SIMILARITY: Contains 1 PNT (pointed) domain.

-  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): GABPA
CDC HuGE Published Literature: GABPA

-  MalaCards Disease Associations
  MalaCards Gene Search: GABPA
Diseases sorted by gene-association score: muscle cancer (2)

-  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: 10.87 RPKM in Thyroid
Total median expression: 340.75 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 -240.76587-0.410 Picture PostScript Text
3' UTR -744.043228-0.230 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
IPR000418 - Ets
IPR024668 - GABP_asu_N
IPR003118 - Pointed_dom
IPR013761 - SAM/pointed
IPR016312 - TF_GA-bd_asu
IPR011991 - WHTH_trsnscrt_rep_DNA-bd

Pfam Domains:
PF00178 - Ets-domain
PF02198 - Sterile alpha motif (SAM)/Pointed domain
PF11620 - GA-binding protein alpha chain

SCOP Domains:
46785 - "Winged helix" DNA-binding domain
47769 - SAM/Pointed domain
54236 - Ubiquitin-like

ModBase Predicted Comparative 3D Structure on Q06546
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 orthologGenome BrowserGenome BrowserNo orthologNo ortholog
Gene Details  Gene Details  
Gene Sorter  Gene Sorter  
  EnsemblFlyBase  
  Protein SequenceProtein Sequence  
  AlignmentAlignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0003713 transcription coactivator activity
GO:0005515 protein binding
GO:0033613 activating transcription factor binding
GO:0043565 sequence-specific DNA binding
GO:0044212 transcription regulatory region DNA binding
GO:0046982 protein heterodimerization activity

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001701 in utero embryonic development
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006366 transcription from RNA polymerase II promoter
GO:0007005 mitochondrion organization
GO:0010628 positive regulation of gene expression
GO:0030154 cell differentiation
GO:0045653 negative regulation of megakaryocyte differentiation
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:1903351 cellular response to dopamine

Cellular Component:
GO:0000790 nuclear chromatin
GO:0005634 nucleus
GO:0005654 nucleoplasm


-  Descriptions from all associated GenBank mRNAs
  BX647755 - Homo sapiens mRNA; cDNA DKFZp686G2131 (from clone DKFZp686G2131).
LF210649 - JP 2014500723-A/18152: Polycomb-Associated Non-Coding RNAs.
AK313545 - Homo sapiens cDNA, FLJ94105, highly similar to Homo sapiens GA binding protein transcription factor, alpha subunit 60kDa (GABPA), mRNA.
BC035031 - Homo sapiens GA binding protein transcription factor, alpha subunit 60kDa, mRNA (cDNA clone MGC:33827 IMAGE:5264778), complete cds.
D13318 - Homo sapiens mRNA for transcription factor E4TF1-60, complete cds.
AK223164 - Homo sapiens mRNA for GA binding protein transcription factor, alpha subunit (60kD) variant, clone: LNG08701.
U13044 - Human nuclear respiratory factor-2 subunit alpha mRNA, complete cds.
EU159453 - Homo sapiens nuclear respiratory factor 2 alpha subunit mRNA, complete cds.
AB463049 - Synthetic construct DNA, clone: pF1KB3911, Homo sapiens GABPA gene for GA binding protein transcription factor, alpha subunit 60kDa, without stop codon, in Flexi system.
EU446476 - Synthetic construct Homo sapiens clone IMAGE:100070270; IMAGE:100011685; FLH258752.01L GA binding protein transcription factor, alpha subunit 60kDa (GABPA) gene, encodes complete protein.
GQ129237 - Synthetic construct Homo sapiens clone HAIB:100068515; DKFZo004F0934 GA binding protein transcription factor, alpha subunit 60kDa protein (GABPA) gene, partial cds.
EU832825 - Synthetic construct Homo sapiens clone HAIB:100067854; DKFZo008F0933 GA binding protein transcription factor, alpha subunit 60kDa protein (GABPA) gene, encodes complete protein.
JQ313900 - Homo sapiens GA binding protein transcription factor alpha subunit 60kDa (GABPA) mRNA, complete cds.
MA446226 - JP 2018138019-A/18152: Polycomb-Associated Non-Coding RNAs.
LF210648 - JP 2014500723-A/18151: Polycomb-Associated Non-Coding RNAs.
LF339715 - JP 2014500723-A/147218: Polycomb-Associated Non-Coding RNAs.
JD205793 - Sequence 186817 from Patent EP1572962.
X84366 - H.sapiens trapped exon mRNA identical to E4TF1-60 sequence.
LF339716 - JP 2014500723-A/147219: Polycomb-Associated Non-Coding RNAs.
LF339717 - JP 2014500723-A/147220: Polycomb-Associated Non-Coding RNAs.
JD310041 - Sequence 291065 from Patent EP1572962.
LF339719 - JP 2014500723-A/147222: Polycomb-Associated Non-Coding RNAs.
LF339720 - JP 2014500723-A/147223: Polycomb-Associated Non-Coding RNAs.
LF339724 - JP 2014500723-A/147227: Polycomb-Associated Non-Coding RNAs.
MA446225 - JP 2018138019-A/18151: Polycomb-Associated Non-Coding RNAs.
MA575292 - JP 2018138019-A/147218: Polycomb-Associated Non-Coding RNAs.
MA575293 - JP 2018138019-A/147219: Polycomb-Associated Non-Coding RNAs.
MA575294 - JP 2018138019-A/147220: Polycomb-Associated Non-Coding RNAs.
MA575296 - JP 2018138019-A/147222: Polycomb-Associated Non-Coding RNAs.
MA575297 - JP 2018138019-A/147223: Polycomb-Associated Non-Coding RNAs.
MA575301 - JP 2018138019-A/147227: Polycomb-Associated Non-Coding RNAs.
LF339729 - JP 2014500723-A/147232: Polycomb-Associated Non-Coding RNAs.
JD130402 - Sequence 111426 from Patent EP1572962.
LF339730 - JP 2014500723-A/147233: Polycomb-Associated Non-Coding RNAs.
JD355019 - Sequence 336043 from Patent EP1572962.
JD539554 - Sequence 520578 from Patent EP1572962.
LF339731 - JP 2014500723-A/147234: Polycomb-Associated Non-Coding RNAs.
JD262836 - Sequence 243860 from Patent EP1572962.
JD114680 - Sequence 95704 from Patent EP1572962.
JD349569 - Sequence 330593 from Patent EP1572962.
LF339732 - JP 2014500723-A/147235: Polycomb-Associated Non-Coding RNAs.
JD263336 - Sequence 244360 from Patent EP1572962.
JD046740 - Sequence 27764 from Patent EP1572962.
LF339733 - JP 2014500723-A/147236: Polycomb-Associated Non-Coding RNAs.
JD480092 - Sequence 461116 from Patent EP1572962.
JD465980 - Sequence 447004 from Patent EP1572962.
JD175763 - Sequence 156787 from Patent EP1572962.
JD357761 - Sequence 338785 from Patent EP1572962.
JD393834 - Sequence 374858 from Patent EP1572962.
JD313816 - Sequence 294840 from Patent EP1572962.
LF339734 - JP 2014500723-A/147237: Polycomb-Associated Non-Coding RNAs.
JD248920 - Sequence 229944 from Patent EP1572962.
LF339735 - JP 2014500723-A/147238: Polycomb-Associated Non-Coding RNAs.
JD299442 - Sequence 280466 from Patent EP1572962.
LF339736 - JP 2014500723-A/147239: Polycomb-Associated Non-Coding RNAs.
MA575306 - JP 2018138019-A/147232: Polycomb-Associated Non-Coding RNAs.
MA575307 - JP 2018138019-A/147233: Polycomb-Associated Non-Coding RNAs.
MA575308 - JP 2018138019-A/147234: Polycomb-Associated Non-Coding RNAs.
MA575309 - JP 2018138019-A/147235: Polycomb-Associated Non-Coding RNAs.
MA575310 - JP 2018138019-A/147236: Polycomb-Associated Non-Coding RNAs.
MA575311 - JP 2018138019-A/147237: Polycomb-Associated Non-Coding RNAs.
MA575312 - JP 2018138019-A/147238: Polycomb-Associated Non-Coding RNAs.
MA575313 - JP 2018138019-A/147239: Polycomb-Associated Non-Coding RNAs.

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

Protein Q06546 (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

-  Other Names for This Gene
  Alternate Gene Symbols: E4TF1A, GABPA_HUMAN, NM_002040, NP_002031, Q06546, Q12939
UCSC ID: uc002yly.4
RefSeq Accession: NM_002040
Protein: Q06546 (aka GABPA_HUMAN or GABA_HUMAN)
CCDS: CCDS13575.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_002040.3
exon count: 10CDS single in 3' UTR: no RNA size: 5182
ORF size: 1365CDS single in intron: no Alignment % ID: 99.98
txCdsPredict score: 2897.00frame shift in genome: no % Coverage: 99.96
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.