Entry - *602708 - PROTEASOME 26S SUBUNIT, ATPase, 6; PSMC6 - OMIM

 
 
* 602708

PROTEASOME 26S SUBUNIT, ATPase, 6; PSMC6


HGNC Approved Gene Symbol: PSMC6

Cytogenetic location: 14q22.1     Genomic coordinates (GRCh38): 14:52,707,200-52,728,590 (from NCBI)


TEXT

▼ Cloning and Expression

Ubiquitinated proteins are degraded by a 26S ATP-dependent protease. The protease is composed of a 20S catalytic proteasome and 2 PA700 regulatory modules (see PSMC1; 602706). DeMartino et al. (1996) identified a protein complex that enhanced PA700 activation of the proteasome. They found that 2 proteins, p42 (PSMC6) and p50 (PSMC3; 186852), are components of both this complex and PA700. Using the amino acid sequence of bovine p42, Fujiwara et al. (1996) identified a human aorta cDNA that encodes p42. The predicted 389-amino acid human p42 contains an AAA (ATPase associated with diverse cellular activities) domain (see PSMC5; 601681).


▼ Mapping

By fluorescence in situ hybridization, Tanahashi et al. (1998) mapped the PSMC6 gene to chromosome 12q15. However, Gross (2011) mapped the PSMC6 gene to chromosome 14q22.1 based on an alignment of the PSMC6 sequence (GenBank BC005390) with the genomic sequence (GRCh37).


▼ REFERENCES

  1. DeMartino, G. N., Proske, R. J., Moomaw, C. R., Strong, A. A., Song, X., Hisamatsu, H., Tanaka, K., Slaughter, C. A. Identification, purification, and characterization of a PA700-dependent activator of the proteasome. J. Biol. Chem. 271: 3112-3118, 1996. [PubMed: 8621709, related citations] [Full Text]

  2. Fujiwara, T., Watanabe, T. K., Tanaka, K., Slaughter, C. A., DeMartino, G. N. cDNA cloning of p42, a shared subunit of two proteasome regulatory proteins, reveals a novel member of the AAA protein family. FEBS Lett. 387: 184-188, 1996. [PubMed: 8674546, related citations] [Full Text]

  3. Gross, M. B. Personal Communication. Baltimore, Md. 2/17/2011.

  4. Tanahashi, N., Suzuki, M., Fujiwara, T., Takahashi, E., Shimbara, N., Chung, C. H., Tanaka, K. Chromosomal localization and immunological analysis of a family of human 26S proteasomal ATPases. Biochem. Biophys. Res. Commun. 243: 229-232, 1998. [PubMed: 9473509, related citations] [Full Text]


Contributors:
Matthew B. Gross - updated : 02/17/2011
Creation Date:
Rebekah S. Rasooly : 6/10/1998
Edit History:
mgross : 02/17/2011
psherman : 6/11/1998

* 602708

PROTEASOME 26S SUBUNIT, ATPase, 6; PSMC6


HGNC Approved Gene Symbol: PSMC6

Cytogenetic location: 14q22.1     Genomic coordinates (GRCh38): 14:52,707,200-52,728,590 (from NCBI)


TEXT

Cloning and Expression

Ubiquitinated proteins are degraded by a 26S ATP-dependent protease. The protease is composed of a 20S catalytic proteasome and 2 PA700 regulatory modules (see PSMC1; 602706). DeMartino et al. (1996) identified a protein complex that enhanced PA700 activation of the proteasome. They found that 2 proteins, p42 (PSMC6) and p50 (PSMC3; 186852), are components of both this complex and PA700. Using the amino acid sequence of bovine p42, Fujiwara et al. (1996) identified a human aorta cDNA that encodes p42. The predicted 389-amino acid human p42 contains an AAA (ATPase associated with diverse cellular activities) domain (see PSMC5; 601681).


Mapping

By fluorescence in situ hybridization, Tanahashi et al. (1998) mapped the PSMC6 gene to chromosome 12q15. However, Gross (2011) mapped the PSMC6 gene to chromosome 14q22.1 based on an alignment of the PSMC6 sequence (GenBank BC005390) with the genomic sequence (GRCh37).


REFERENCES

  1. DeMartino, G. N., Proske, R. J., Moomaw, C. R., Strong, A. A., Song, X., Hisamatsu, H., Tanaka, K., Slaughter, C. A. Identification, purification, and characterization of a PA700-dependent activator of the proteasome. J. Biol. Chem. 271: 3112-3118, 1996. [PubMed: 8621709] [Full Text: https://doi.org/10.1074/jbc.271.6.3112]

  2. Fujiwara, T., Watanabe, T. K., Tanaka, K., Slaughter, C. A., DeMartino, G. N. cDNA cloning of p42, a shared subunit of two proteasome regulatory proteins, reveals a novel member of the AAA protein family. FEBS Lett. 387: 184-188, 1996. [PubMed: 8674546] [Full Text: https://doi.org/10.1016/0014-5793(96)00489-9]

  3. Gross, M. B. Personal Communication. Baltimore, Md. 2/17/2011.

  4. Tanahashi, N., Suzuki, M., Fujiwara, T., Takahashi, E., Shimbara, N., Chung, C. H., Tanaka, K. Chromosomal localization and immunological analysis of a family of human 26S proteasomal ATPases. Biochem. Biophys. Res. Commun. 243: 229-232, 1998. [PubMed: 9473509] [Full Text: https://doi.org/10.1006/bbrc.1997.7892]


Contributors:
Matthew B. Gross - updated : 02/17/2011

Creation Date:
Rebekah S. Rasooly : 6/10/1998

Edit History:
mgross : 02/17/2011
psherman : 6/11/1998



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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: June 9, 2024