Description: Homo sapiens transcription factor CP2 (TFCP2), transcript variant 1, mRNA. RefSeq Summary (NM_005653): This gene encodes a transcription factor that binds the alpha-globin promoter and activates transcription of the alpha-globin gene. The encoded protein regulates erythroid gene expression, plays a role in the transcriptional switch of globin gene promoters, and it activates many other cellular and viral gene promoters. The gene product interacts with certain inflammatory response factors, and polymorphisms of this gene may be involved in the pathogenesis of Alzheimer's disease. [provided by RefSeq, Mar 2010]. Transcript (Including UTRs) Position: hg19 chr12:51,487,539-51,566,926 Size: 79,388 Total Exon Count: 15 Strand: - Coding Region Position: hg19 chr12:51,489,024-51,566,205 Size: 77,182 Coding Exon Count: 15
ID:TFCP2_HUMAN DESCRIPTION: RecName: Full=Alpha-globin transcription factor CP2; AltName: Full=SAA3 enhancer factor; AltName: Full=Transcription factor LSF; FUNCTION: Binds a variety of cellular and viral promoters including fibrinogen, alpha-globin, SV40 and HIV-1 promoters. Activation of the alpha-globin promoter in erythroid cells is via synergistic interaction with UBP1 (By similarity). Functions as part of the SSP (stage selector protein) complex. Facilitates the interaction of the gamma-globin genes with enhancer elements contained in the locus control region in fetal erythroid cells. Interacts by binding to the stage selector element (SSE) in the proximal gamma-globin promoter. SUBUNIT: Binds to DNA as a dimer, isoform 3 does not bind to DNA or affect the binding of isoform 1 to DNA. Interacts with UBP1 and PIAS1, and is probably part of a complex containing TFCP2, UBP1 and PIAS1 (By similarity). Component of the SSP (stage selector protein) complex, which appears to be a heteromer of TFCP2 and 2 copies of NFE4. SUBCELLULAR LOCATION: Nucleus. TISSUE SPECIFICITY: Ubiquitous. Expressed in brain, ovary, kidney, thymus, spleen, liver, adrenal, heart and lung (at protein level). DEVELOPMENTAL STAGE: Expressed in fetal erythroid tissue. MISCELLANEOUS: In PubMed:8114710 authors noted that a 10-fold molar excess of isoform 3 over isoform 1 inhibited DNA-binding. SIMILARITY: Belongs to the grh/CP2 family. CP2 subfamily.
Alzheimer's Disease Taylor, A. E. et al. 2001, Genetic association of an LBP-1c/CP2/LSF gene polymorphism with late onset Alzheimer's disease., Journal of medical genetics. 2001 Apr;38(4):232-3.
[PubMed 11283204]
Our data support LBP-1c/CP2/LSF as a candidate gene/risk factor for AD and provide justification for future studies to investigate the role of this gene in Alzheimer's disease.
Alzheimer's disease Bertram, L. et al. 2005, Further evidence for LBP-1c/CP2/LSF association in Alzheimer's disease families, J Med Genet 2005 42(11) 857-62.
[PubMed 16272261]
This is the first study to examine LBP-1c/CP2/LSF in AD families, and the fifth to independently show significant association. While our results support a role of this gene in AD pathogenesis, the direction of the effect remains uncertain, possibly indicating linkage disequilibrium with another variant nearby.
Alzheimer's disease depressive disorder, major Schahab, S. et al. 2006, Association of Polymorphism in the Transcription Factor LBP-1c/CP2/LSF Gene with Alzheimer's Disease and Major Depression, Dement Geriatr Cogn Disord 2006 22(1) 95-98.
[PubMed 16710089]
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.
ModBase Predicted Comparative 3D Structure on Q12800
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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.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000987 core promoter proximal region sequence-specific DNA binding GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0003677 DNA binding GO:0003700 transcription factor activity, sequence-specific DNA binding GO:0005515 protein binding GO:0008022 protein C-terminus binding GO:0008134 transcription factor binding GO:0043565 sequence-specific DNA binding
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:0042789 mRNA transcription from RNA polymerase II promoter GO:0045944 positive regulation of transcription from RNA polymerase II promoter