Entry - *164175 - POU DOMAIN, CLASS 2, TRANSCRIPTION FACTOR 1; POU2F1 - OMIM
 
* 164175

POU DOMAIN, CLASS 2, TRANSCRIPTION FACTOR 1; POU2F1


Alternative titles; symbols

OTF, LYMPHOID-SPECIFIC, 1; OTF1
OCTAMER-BINDING TRANSCRIPTION FACTOR 1; OCT1


HGNC Approved Gene Symbol: POU2F1

Cytogenetic location: 1q24.2     Genomic coordinates (GRCh38): 1:167,220,885-167,427,345 (from NCBI)


TEXT

Description

The OCT1 transcription factor was among the first identified members of the POU transcription factor family. Members of this family contain the POU domain, a 160-amino acid region necessary for DNA binding to the octameric sequence ATGCAAAT (summary by Sturm et al., 1993).


Cloning and Expression

Sturm et al. (1993) obtained an OTF1 cDNA clone whose open reading frame encoded 766 amino acids.


Gene Structure

Sturm et al. (1993) demonstrated that the OTF1 gene contains 16 exons spanning over 150 kb.


Gene Function

POU domain proteins contain a bipartite DNA-binding domain divided by a flexible linker that enables them to adopt various monomer configurations on DNA. The versatility of POU protein operation is additionally conferred at the dimerization level. Tomilin et al. (2000) found that the POU dimer from the OCT1 gene formed on the palindromic OCT factor recognition element, or PORE (ATTTGAAATGCAAAT), could recruit the transcriptional coactivator OBF1 (601206), whereas POU dimers formed on the consensus MORE (more PORE) (ATGCATATGCAT) or on MOREs from immunoglobulin heavy chain promoters (AT[G/A][C/A]ATATGCAA) failed to interact. An interaction with OBF1 was precluded since the same OCT1 residues that form the MORE dimerization interface are also used for OBF1/OCT1 interactions on the PORE. These findings provided a paradigm of how specific POU dimer assemblies can differentially recruit a coregulatory activity with distinct transcriptional readouts.


Mapping

Hsieh et al. (1989, 1990) used a panel of somatic cell hybrids, including a set of hybrids containing partially overlapping regions of chromosome 1, to assign the OCT1 gene to human chromosome 1cen-q32. In the course of constructing a physical map of human 1q23-q25, Oakey et al. (1992) demonstrated that OTF1 is in the midportion of this segment, not far from CD3Z (186780).

By studies of an interspecific backcross and recombinant inbred strains, Siracusa et al. (1991) mapped Otf-1 to mouse chromosome 1.

By fluorescence in situ hybridization, Sturm et al. (1995) concluded that the OTF1 gene is located on 1q22-q23. The physical linkage of the CD3Z gene to OTF1 means that the CD3Z gene is also located on 1q22-q23.


REFERENCES

  1. Hsieh, C.-L., Sturm, R., Herr, W., Francke, U. The gene for the ubiquitous octamer-binding protein Oct-1 is on human chromosome 1, region cen-q32, and near Ly-22 and Ltw-4 on mouse chromosome 1. Genomics 6: 666-672, 1990. [PubMed: 2341156, related citations] [Full Text]

  2. Hsieh, C. L., Sturm, R., Herr, W., Francke, U. The gene for the ubiquitous octamer-binding protein Oct-1 is on human chromosome 1, region cen-q32, and on mouse chromosome 1. (Abstract) Cytogenet. Cell Genet. 51: 1016 only, 1989.

  3. Oakey, R. J., Watson, M. L., Seldin, M. F. Construction of a physical map on mouse and human chromosome 1: comparison of 13 Mb of mouse and 11 Mb of human DNA. Hum. Molec. Genet. 1: 613-620, 1992. [PubMed: 1301170, related citations] [Full Text]

  4. Siracusa, L. D., Rosner, M. H., Vigano, M. A., Gilbert, D. J., Staudt, L. M., Copeland, N. G., Jenkins, N. A. Chromosomal location of the octamer transcription factors, Otf-1, Otf-2, and Otf-3, defines multiple Otf-3-related sequences dispersed in the mouse genome. Genomics 10: 313-326, 1991. [PubMed: 1676977, related citations] [Full Text]

  5. Sturm, R. A., Cassady, J. L., Das, G., Romo, A., Evans, G. A. Chromosomal structure and expression of the human OTF1 locus encoding the Oct-1 protein. Genomics 16: 333-341, 1993. [PubMed: 8314572, related citations] [Full Text]

  6. Sturm, R. A., Eyre, H. J., Baker, E., Sutherland, G. R. The human OTF1 locus which overlaps the CD3Z gene is located at 1q22-q23. Cytogenet. Cell Genet. 68: 231-232, 1995. [PubMed: 7842742, related citations] [Full Text]

  7. Tomilin, A., Remenyi, A., Lins, K., Bak, H., Leidel, S., Vriend, G., Wilmanns, M., Scholer, H. R. Synergism with the coactivator OBF-1 (OCA-B, BOB-1) is mediated by a specific POU dimer configuration. Cell 103: 853-864, 2000. [PubMed: 11136971, related citations] [Full Text]


Contributors:
Stylianos E. Antonarakis - updated : 12/18/2000
Creation Date:
Victor A. McKusick : 12/22/1992
alopez : 03/07/2012
alopez : 3/5/2012
alopez : 7/14/2010
mgross : 12/18/2000
alopez : 9/5/1997
mark : 4/25/1995
carol : 5/25/1993
carol : 2/9/1993
carol : 12/22/1992

* 164175

POU DOMAIN, CLASS 2, TRANSCRIPTION FACTOR 1; POU2F1


Alternative titles; symbols

OTF, LYMPHOID-SPECIFIC, 1; OTF1
OCTAMER-BINDING TRANSCRIPTION FACTOR 1; OCT1


HGNC Approved Gene Symbol: POU2F1

Cytogenetic location: 1q24.2     Genomic coordinates (GRCh38): 1:167,220,885-167,427,345 (from NCBI)


TEXT

Description

The OCT1 transcription factor was among the first identified members of the POU transcription factor family. Members of this family contain the POU domain, a 160-amino acid region necessary for DNA binding to the octameric sequence ATGCAAAT (summary by Sturm et al., 1993).


Cloning and Expression

Sturm et al. (1993) obtained an OTF1 cDNA clone whose open reading frame encoded 766 amino acids.


Gene Structure

Sturm et al. (1993) demonstrated that the OTF1 gene contains 16 exons spanning over 150 kb.


Gene Function

POU domain proteins contain a bipartite DNA-binding domain divided by a flexible linker that enables them to adopt various monomer configurations on DNA. The versatility of POU protein operation is additionally conferred at the dimerization level. Tomilin et al. (2000) found that the POU dimer from the OCT1 gene formed on the palindromic OCT factor recognition element, or PORE (ATTTGAAATGCAAAT), could recruit the transcriptional coactivator OBF1 (601206), whereas POU dimers formed on the consensus MORE (more PORE) (ATGCATATGCAT) or on MOREs from immunoglobulin heavy chain promoters (AT[G/A][C/A]ATATGCAA) failed to interact. An interaction with OBF1 was precluded since the same OCT1 residues that form the MORE dimerization interface are also used for OBF1/OCT1 interactions on the PORE. These findings provided a paradigm of how specific POU dimer assemblies can differentially recruit a coregulatory activity with distinct transcriptional readouts.


Mapping

Hsieh et al. (1989, 1990) used a panel of somatic cell hybrids, including a set of hybrids containing partially overlapping regions of chromosome 1, to assign the OCT1 gene to human chromosome 1cen-q32. In the course of constructing a physical map of human 1q23-q25, Oakey et al. (1992) demonstrated that OTF1 is in the midportion of this segment, not far from CD3Z (186780).

By studies of an interspecific backcross and recombinant inbred strains, Siracusa et al. (1991) mapped Otf-1 to mouse chromosome 1.

By fluorescence in situ hybridization, Sturm et al. (1995) concluded that the OTF1 gene is located on 1q22-q23. The physical linkage of the CD3Z gene to OTF1 means that the CD3Z gene is also located on 1q22-q23.


REFERENCES

  1. Hsieh, C.-L., Sturm, R., Herr, W., Francke, U. The gene for the ubiquitous octamer-binding protein Oct-1 is on human chromosome 1, region cen-q32, and near Ly-22 and Ltw-4 on mouse chromosome 1. Genomics 6: 666-672, 1990. [PubMed: 2341156] [Full Text: https://doi.org/10.1016/0888-7543(90)90502-l]

  2. Hsieh, C. L., Sturm, R., Herr, W., Francke, U. The gene for the ubiquitous octamer-binding protein Oct-1 is on human chromosome 1, region cen-q32, and on mouse chromosome 1. (Abstract) Cytogenet. Cell Genet. 51: 1016 only, 1989.

  3. Oakey, R. J., Watson, M. L., Seldin, M. F. Construction of a physical map on mouse and human chromosome 1: comparison of 13 Mb of mouse and 11 Mb of human DNA. Hum. Molec. Genet. 1: 613-620, 1992. [PubMed: 1301170] [Full Text: https://doi.org/10.1093/hmg/1.8.613]

  4. Siracusa, L. D., Rosner, M. H., Vigano, M. A., Gilbert, D. J., Staudt, L. M., Copeland, N. G., Jenkins, N. A. Chromosomal location of the octamer transcription factors, Otf-1, Otf-2, and Otf-3, defines multiple Otf-3-related sequences dispersed in the mouse genome. Genomics 10: 313-326, 1991. [PubMed: 1676977] [Full Text: https://doi.org/10.1016/0888-7543(91)90314-5]

  5. Sturm, R. A., Cassady, J. L., Das, G., Romo, A., Evans, G. A. Chromosomal structure and expression of the human OTF1 locus encoding the Oct-1 protein. Genomics 16: 333-341, 1993. [PubMed: 8314572] [Full Text: https://doi.org/10.1006/geno.1993.1194]

  6. Sturm, R. A., Eyre, H. J., Baker, E., Sutherland, G. R. The human OTF1 locus which overlaps the CD3Z gene is located at 1q22-q23. Cytogenet. Cell Genet. 68: 231-232, 1995. [PubMed: 7842742] [Full Text: https://doi.org/10.1159/000133919]

  7. Tomilin, A., Remenyi, A., Lins, K., Bak, H., Leidel, S., Vriend, G., Wilmanns, M., Scholer, H. R. Synergism with the coactivator OBF-1 (OCA-B, BOB-1) is mediated by a specific POU dimer configuration. Cell 103: 853-864, 2000. [PubMed: 11136971] [Full Text: https://doi.org/10.1016/s0092-8674(00)00189-6]


Contributors:
Stylianos E. Antonarakis - updated : 12/18/2000

Creation Date:
Victor A. McKusick : 12/22/1992

Edit History:
alopez : 03/07/2012
alopez : 3/5/2012
alopez : 7/14/2010
mgross : 12/18/2000
alopez : 9/5/1997
mark : 4/25/1995
carol : 5/25/1993
carol : 2/9/1993
carol : 12/22/1992