Entry - *603809 - THYROID HORMONE RECEPTOR-ASSOCIATED PROTEIN 3; THRAP3 - OMIM

 
 
* 603809

THYROID HORMONE RECEPTOR-ASSOCIATED PROTEIN 3; THRAP3


Alternative titles; symbols

THYROID HORMONE RECEPTOR-ASSOCIATED PROTEIN, 150-KD; TRAP150


HGNC Approved Gene Symbol: THRAP3

Cytogenetic location: 1p34.3   Genomic coordinates (GRCh38) : 1:36,207,637-36,305,357 (from NCBI)


▼ TEXT

For background information on thyroid hormone receptor-associated proteins (TRAPs), see 300182.

▼ Cloning and Expression

Using a HeLa cell line, Ito et al. (1999) cloned TRAP150, the gene encoding the 150-kD subunit of the TRAP complex. The TRAP150 cDNA encodes a 955-amino acid protein. Sequence comparisons revealed a gene of unknown function, designated KIAA0164 (BCLAF1; 612588) by Nagase et al. (1996), that encodes a related human protein (overall identity of 40% and similarity of 55%), thus indicating a putative gene family. Northern blot analysis of multiple human tissues showed that the TRAP150 gene is ubiquitously expressed as an approximately 5.0-kb transcript.


▼ Gene Function

Using mass spectrometric analysis to identify proteins that immunoprecipitated with WTAP (605442) from human umbilical vein endothelial cells (HUVECs), Horiuchi et al. (2013) identified a protein complex that included THRAP3, HAKAI (CBLL1; 606872), virilizer (KIAA1429; 616447), RBM15 (606077), BCLAF1, and ZC3H13 (616453). The WTAP complex localized to nuclear speckles in HeLa cells and HUVECs, and cross-linking experiments indicated that it transiently associated with splicing factors. Knockdown of any of the WTAP complex components, including THRAP3, reduced alternative splicing of WTAP, resulting in increased production of the full-length WTAP protein, and reduced cell proliferation, with cell cycle arrest at G2 phase. Knockdown of both BCLAF1 and THRAP3 decreased nuclear speckle localization of other WTAP complex components.


▼ Mapping

Hartz (2015) mapped the THRAP3 gene to chromosome 1p34.3 based on an alignment of the THRAP3 sequence (GenBank AF117756) with the genomic sequence (GRCh38).

▼ REFERENCES

  1. Hartz, P. A. Personal Communication. Baltimore, Md. 7/6/2015.

  2. Horiuchi, K., Kawamura, T., Iwanari, H., Ohashi, R., Naito, M., Kodama, T., Hamakubo, T. Identification of Wilms' tumor 1-associating protein complex and its role in alternative splicing and the cell cycle. J. Biol. Chem. 288: 33292-33302, 2013. [PubMed: 24100041, images, related citations] [Full Text]

  3. Ito, M., Yuan, C.-X., Malik, S., Gu, W., Fondell, J. D., Yamamura, S., Fu, Z.-Y., Zhang, X., Qin, J., Roeder, R. G. Identity between TRAP and SMCC complexes indicates novel pathways for the function of nuclear receptors and diverse mammalian activators. Molec. Cell 3: 361-370, 1999. [PubMed: 10198638, related citations] [Full Text]

  4. Nagase, T., Seki, N., Ishikawa, K., Tanaka, A., Nomura, N. Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1. DNA Res. 3: 17-24, 1996. [PubMed: 8724849, related citations] [Full Text]


Contributors:
Patricia A. Hartz - updated : 7/6/2015
Creation Date:
Stylianos E. Antonarakis : 5/14/1999
Edit History:
mgross : 07/09/2015
mcolton : 7/6/2015
mgross : 7/1/2004
mgross : 5/18/1999
mgross : 5/17/1999

* 603809

THYROID HORMONE RECEPTOR-ASSOCIATED PROTEIN 3; THRAP3


Alternative titles; symbols

THYROID HORMONE RECEPTOR-ASSOCIATED PROTEIN, 150-KD; TRAP150


HGNC Approved Gene Symbol: THRAP3

Cytogenetic location: 1p34.3   Genomic coordinates (GRCh38) : 1:36,207,637-36,305,357 (from NCBI)


TEXT

For background information on thyroid hormone receptor-associated proteins (TRAPs), see 300182.

Cloning and Expression

Using a HeLa cell line, Ito et al. (1999) cloned TRAP150, the gene encoding the 150-kD subunit of the TRAP complex. The TRAP150 cDNA encodes a 955-amino acid protein. Sequence comparisons revealed a gene of unknown function, designated KIAA0164 (BCLAF1; 612588) by Nagase et al. (1996), that encodes a related human protein (overall identity of 40% and similarity of 55%), thus indicating a putative gene family. Northern blot analysis of multiple human tissues showed that the TRAP150 gene is ubiquitously expressed as an approximately 5.0-kb transcript.


Gene Function

Using mass spectrometric analysis to identify proteins that immunoprecipitated with WTAP (605442) from human umbilical vein endothelial cells (HUVECs), Horiuchi et al. (2013) identified a protein complex that included THRAP3, HAKAI (CBLL1; 606872), virilizer (KIAA1429; 616447), RBM15 (606077), BCLAF1, and ZC3H13 (616453). The WTAP complex localized to nuclear speckles in HeLa cells and HUVECs, and cross-linking experiments indicated that it transiently associated with splicing factors. Knockdown of any of the WTAP complex components, including THRAP3, reduced alternative splicing of WTAP, resulting in increased production of the full-length WTAP protein, and reduced cell proliferation, with cell cycle arrest at G2 phase. Knockdown of both BCLAF1 and THRAP3 decreased nuclear speckle localization of other WTAP complex components.


Mapping

Hartz (2015) mapped the THRAP3 gene to chromosome 1p34.3 based on an alignment of the THRAP3 sequence (GenBank AF117756) with the genomic sequence (GRCh38).

REFERENCES

  1. Hartz, P. A. Personal Communication. Baltimore, Md. 7/6/2015.

  2. Horiuchi, K., Kawamura, T., Iwanari, H., Ohashi, R., Naito, M., Kodama, T., Hamakubo, T. Identification of Wilms' tumor 1-associating protein complex and its role in alternative splicing and the cell cycle. J. Biol. Chem. 288: 33292-33302, 2013. [PubMed: 24100041] [Full Text: https://doi.org/10.1074/jbc.M113.500397]

  3. Ito, M., Yuan, C.-X., Malik, S., Gu, W., Fondell, J. D., Yamamura, S., Fu, Z.-Y., Zhang, X., Qin, J., Roeder, R. G. Identity between TRAP and SMCC complexes indicates novel pathways for the function of nuclear receptors and diverse mammalian activators. Molec. Cell 3: 361-370, 1999. [PubMed: 10198638] [Full Text: https://doi.org/10.1016/s1097-2765(00)80463-3]

  4. Nagase, T., Seki, N., Ishikawa, K., Tanaka, A., Nomura, N. Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1. DNA Res. 3: 17-24, 1996. [PubMed: 8724849] [Full Text: https://doi.org/10.1093/dnares/3.1.17]


Contributors:
Patricia A. Hartz - updated : 7/6/2015

Creation Date:
Stylianos E. Antonarakis : 5/14/1999

Edit History:
mgross : 07/09/2015
mcolton : 7/6/2015
mgross : 7/1/2004
mgross : 5/18/1999
mgross : 5/17/1999



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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.
Printed: Nov. 17, 2024