GABPB1

This article is about the GABPB gene found on chromosome 15 in humans. For the GABPB gene on chromosome 1, see GABPB2.

GABPB1
Identifiers
Aliases	GABPB1, BABPB2, E4TF1, E4TF1-47, E4TF1-53, E4TF1B, GABPB, GABPB2, NRF2B1, NRF2B2, GABPB-1, GA binding protein transcription factor beta subunit 1, GA binding protein transcription factor subunit beta 1
External IDs	OMIM: 600610; MGI: 95611; GeneCards: GABPB1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1AWC
Gene location (Human) Chr. Chromosome 15 (human) Band 15q21.2 Start 50,275,389 bp End 50,355,408 bp
Gene location (Mouse) Chr. Chromosome 2 (mouse) Band 2 F1|2 61.76 cM Start 126,469,362 bp End 126,518,257 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in secondary oocyte cartilage tissue bone marrow cell ventricular zone ganglionic eminence Achilles tendon stromal cell of endometrium testicle gonad lactiferous duct Top expressed in tail of embryo ventricular zone granulocyte genital tubercle thymus ganglionic eminence epiblast spermatid embryo primary oocyte More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA-binding transcription factor activity protein heterodimerization activity protein binding Cellular component nucleus nucleoplasm cytoplasmic ribonucleoprotein granule Biological process regulation of transcription, DNA-templated mitochondrion organization positive regulation of transcription by RNA polymerase II regulation of transcription by RNA polymerase II transcription, DNA-templated Sources:Amigo / QuickGO
Orthologs Databases NCBI: entry; OMA: entry Species Human Mouse Entrez 2553 14391 Ensembl ENSG00000104064 ENSMUSG00000027361 UniProt Q06547 Q00420 RefSeq (mRNA) NM_002041 NM_005254 NM_016654 NM_016655 NM_181427 NM_001320910 NM_001320915 NM_001271467 NM_001271468 NM_001271469 NM_001271470 NM_001271492 NM_010249 NM_207669 NM_001355108 NM_001355109 RefSeq (protein) NP_001307839 NP_001307844 NP_002032 NP_005245 NP_057738 NP_057739 NP_852092 NP_057738.1 NP_001258396 NP_001258397 NP_001258398 NP_001258399 NP_001258421 NP_034379 NP_997552 NP_001342037 NP_001342038 NP_001393121 NP_001393122 NP_001393123 NP_001393124 NP_001393125 NP_001393126 NP_001393127 NP_001393128 NP_001393129 NP_001393130 NP_001393131 NP_001393132 NP_001393133 NP_001393134 NP_001393135 NP_001393136 NP_001393137 NP_001393138 NP_001393139 NP_001393140 NP_001393141 NP_001393142 NP_001393143 NP_001393144 NP_001393145 NP_001393146 NP_001393147 NP_001393148 NP_001393149 NP_001393150 NP_001393151 NP_001393152 NP_001393153 NP_001393154 NP_001393155 NP_001393156 Location (UCSC) Chr 15: 50.28 – 50.36 Mb Chr 2: 126.47 – 126.52 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

GA-binding protein subunit beta-1 is a protein that in humans is encoded by the GABPB1 gene.

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.

Isoforms and naming conventions

The GABPB1 gene has two main isoforms called GABPB1L and GABPB1S. These isoforms were originally named “GABPB1” and “GABPB2” (resp.). This led to a name conflict with this gene’s paralog, GABPB2, which is named after its mouse homolog Gabpb2. Adding to the confusion, in 1995, a GABPA pseudogene on chromosome 7 (now called GABPAP) was misidentified as the gene encoding the GABPB1L/GABPB1S proteins. This was clarified in August 2008, with the chromosome 14 paralog (this gene) being denoted GABPB1, while the chromosome 1 paralog was denoted GABPB2.

Further reading

• Sawada J, Goto M, Watanabe H, et al. (1995). "Regional mapping of two subunits of transcription factor E4TF1 to human chromosome". Jpn. J. Cancer Res. 86 (1): 10–2. doi:10.1111/j.1349-7006.1995.tb02981.x. PMC 5920589. PMID 7737900.
• Gugneja S, Virbasius JV, Scarpulla RC (1995). "Four structurally distinct, non-DNA-binding subunits of human nuclear respiratory factor 2 share a conserved transcriptional activation domain". Mol. Cell. Biol. 15 (1): 102–11. doi:10.1128/MCB.15.1.102. PMC 231915. PMID 7799916.
• Virbasius JV, Virbasius CA, Scarpulla RC (1993). "Identity of GABP with NRF-2, a multisubunit activator of cytochrome oxidase expression, reveals a cellular role for an ETS domain activator of viral promoters". Genes Dev. 7 (3): 380–92. doi:10.1101/gad.7.3.380. PMID 8383622.
• Watanabe H, Sawada J, Yano K, et al. (1993). "cDNA cloning of transcription factor E4TF1 subunits with Ets and notch motifs". Mol. Cell. Biol. 13 (3): 1385–91. doi:10.1128/MCB.13.3.1385. PMC 359448. PMID 8441384.
• Gugneja S, Virbasius CM, Scarpulla RC (1996). "Nuclear respiratory factors 1 and 2 utilize similar glutamine-containing clusters of hydrophobic residues to activate transcription". Mol. Cell. Biol. 16 (10): 5708–16. doi:10.1128/mcb.16.10.5708. PMC 231571. PMID 8816484.
• Sawa C, Goto M, Suzuki F, et al. (1997). "Functional domains of transcription factor hGABP beta1/E4TF1-53 required for nuclear localization and transcription activation". Nucleic Acids Res. 24 (24): 4954–61. doi:10.1093/nar/24.24.4954. PMC 146336. PMID 9016666.
• Sowa Y, Shiio Y, Fujita T, et al. (1997). "Retinoblastoma binding factor 1 site in the core promoter region of the human RB gene is activated by hGABP/E4TF1". Cancer Res. 57 (15): 3145–8. PMID 9242441.
• Batchelor AH, Piper DE, de la Brousse FC, et al. (1998). "The structure of GABPalpha/beta: an ETS domain- ankyrin repeat heterodimer bound to DNA". Science. 279 (5353): 1037–41. Bibcode:1998Sci...279.1037B. doi:10.1126/science.279.5353.1037. PMID 9461436.
• Suzuki F, Goto M, Sawa C, et al. (1998). "Functional interactions of transcription factor human GA-binding protein subunits". J. Biol. Chem. 273 (45): 29302–8. doi:10.1074/jbc.273.45.29302. PMID 9792629.
• Sawada J, Simizu N, Suzuki F, et al. (2000). "Synergistic transcriptional activation by hGABP and select members of the activation transcription factor/cAMP response element-binding protein family". J. Biol. Chem. 274 (50): 35475–82. doi:10.1074/jbc.274.50.35475. PMID 10585419.
• Vogel JL, Kristie TM (2000). "The novel coactivator C1 (HCF) coordinates multiprotein enhancer formation and mediates transcription activation by GABP". EMBO J. 19 (4): 683–90. doi:10.1093/emboj/19.4.683. PMC 305606. PMID 10675337.
• Sawa C, Yoshikawa T, Matsuda-Suzuki F, et al. (2002). "YEAF1/RYBP and YAF-2 are functionally distinct members of a cofactor family for the YY1 and E4TF1/hGABP transcription factors". J. Biol. Chem. 277 (25): 22484–90. doi:10.1074/jbc.M203060200. PMID 11953439.
• Marie S, Race V, Nassogne MC, et al. (2002). "Mutation of a nuclear respiratory factor 2 binding site in the 5' untranslated region of the ADSL gene in three patients with adenylosuccinate lyase deficiency". Am. J. Hum. Genet. 71 (1): 14–21. doi:10.1086/341036. PMC 384970. PMID 12016589.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
• Jeong BC, Kim MY, Lee JH, et al. (2006). "Brain-specific angiogenesis inhibitor 2 regulates VEGF through GABP that acts as a transcriptional repressor". FEBS Lett. 580 (2): 669–76. Bibcode:2006FEBSL.580..669J. doi:10.1016/j.febslet.2005.12.086. PMID 16412436. S2CID 35468847.
• Lim J, Hao T, Shaw C, et al. (2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell. 125 (4): 801–14. doi:10.1016/j.cell.2006.03.032. PMID 16713569. S2CID 13709685.

External links

• GABPB1+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
• Overview of all the structural information available in the PDB for UniProt: Q00420 (Mouse GA-binding protein subunit beta-1) at the PDBe-KB.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.