Entry - *612543 - UBIQUITIN-SPECIFIC PROTEASE 36; USP36 - OMIM
 
* 612543

UBIQUITIN-SPECIFIC PROTEASE 36; USP36


Alternative titles; symbols

KIAA1453


HGNC Approved Gene Symbol: USP36

Cytogenetic location: 17q25.3   Genomic coordinates (GRCh38) : 17:78,787,381-78,841,439 (from NCBI)


TEXT

Description

Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP36 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004).


Cloning and Expression

By sequencing clones obtained from a size-fractionated fetal brain cDNA library, Nagase et al. (2000) cloned USP36, which they designated KIAA1453. The deduced protein contains 1,123 amino acids. RT-PCR ELISA detected highest expression in testis and ovary, with weaker expression in all other adult and fetal tissues and specific brain regions examined.

By searching databases for sequences similar to USP family members, followed by PCR of lung, kidney, endothelium, and brain cDNA libraries, Quesada et al. (2004) cloned USP36. The deduced protein contains cysteine, histidine, and asparagine residues required for catalytic activity, and it has a QQD box characteristic of USPs. Northern blot analysis detected a major USP36 transcript highly expressed in skeletal muscle and testis. Variable expression was detected in other tissues examined.


Gene Function

Quesada et al. (2004) found that recombinant USP36 showed deubiquitination activity against ubiquitin-beta-galactosidase in an in vitro assay.

Buszczak et al. (2009) described a Drosophila gene called 'scrawny' (scny), which is similar to human USP36 and encodes a ubiquitin-specific protease that is required in germline, epithelial, and intestinal stem cells. Like its yeast relative UBP10, scrawny deubiquitylates histone H2B and functions in gene silencing. Consistent with previous studies of this conserved pathway of chromatin regulation, scny mutant cells have elevated levels of ubiquitinylated H2B and trimethylated H3K4. Buszczak et al. (2009) concluded that inhibiting H2B ubiquitylation through scrawny represents a common mechanism within stem cells that is used to repress the premature expression of key differentiation genes, including Notch target genes.


Mapping

By analysis of a human-rodent hybrid panel, Nagase et al. (2000) mapped the USP36 gene to chromosome 17.


REFERENCES

  1. Buszczak, M., Paterno, S., Spradling, A. C. Drosophila stem cells share a common requirement for the histone H2B ubiquitin protease scrawny. Science 323: 248-251, 2009. [PubMed: 19039105, images, related citations] [Full Text]

  2. Nagase, T., Kikuno, R., Ishikawa, K., Hirosawa, M., Ohara, O. Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. DNA Res. 7: 143-150, 2000. [PubMed: 10819331, related citations] [Full Text]

  3. Quesada, V., Diaz-Perales, A., Gutierrez-Fernandez, A., Garabaya, C., Cal, S., Lopez-Otin, C. Cloning and enzymatic analysis of 22 novel human ubiquitin-specific proteases. Biochem. Biophys. Res. Commun. 314: 54-62, 2004. [PubMed: 14715245, related citations] [Full Text]


Contributors:
Ada Hamosh - updated : 1/27/2009
Creation Date:
Patricia A. Hartz : 1/21/2009
alopez : 01/28/2009
terry : 1/27/2009
mgross : 1/21/2009

* 612543

UBIQUITIN-SPECIFIC PROTEASE 36; USP36


Alternative titles; symbols

KIAA1453


HGNC Approved Gene Symbol: USP36

Cytogenetic location: 17q25.3   Genomic coordinates (GRCh38) : 17:78,787,381-78,841,439 (from NCBI)


TEXT

Description

Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP36 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004).


Cloning and Expression

By sequencing clones obtained from a size-fractionated fetal brain cDNA library, Nagase et al. (2000) cloned USP36, which they designated KIAA1453. The deduced protein contains 1,123 amino acids. RT-PCR ELISA detected highest expression in testis and ovary, with weaker expression in all other adult and fetal tissues and specific brain regions examined.

By searching databases for sequences similar to USP family members, followed by PCR of lung, kidney, endothelium, and brain cDNA libraries, Quesada et al. (2004) cloned USP36. The deduced protein contains cysteine, histidine, and asparagine residues required for catalytic activity, and it has a QQD box characteristic of USPs. Northern blot analysis detected a major USP36 transcript highly expressed in skeletal muscle and testis. Variable expression was detected in other tissues examined.


Gene Function

Quesada et al. (2004) found that recombinant USP36 showed deubiquitination activity against ubiquitin-beta-galactosidase in an in vitro assay.

Buszczak et al. (2009) described a Drosophila gene called 'scrawny' (scny), which is similar to human USP36 and encodes a ubiquitin-specific protease that is required in germline, epithelial, and intestinal stem cells. Like its yeast relative UBP10, scrawny deubiquitylates histone H2B and functions in gene silencing. Consistent with previous studies of this conserved pathway of chromatin regulation, scny mutant cells have elevated levels of ubiquitinylated H2B and trimethylated H3K4. Buszczak et al. (2009) concluded that inhibiting H2B ubiquitylation through scrawny represents a common mechanism within stem cells that is used to repress the premature expression of key differentiation genes, including Notch target genes.


Mapping

By analysis of a human-rodent hybrid panel, Nagase et al. (2000) mapped the USP36 gene to chromosome 17.


REFERENCES

  1. Buszczak, M., Paterno, S., Spradling, A. C. Drosophila stem cells share a common requirement for the histone H2B ubiquitin protease scrawny. Science 323: 248-251, 2009. [PubMed: 19039105] [Full Text: https://doi.org/10.1126/science.1165678]

  2. Nagase, T., Kikuno, R., Ishikawa, K., Hirosawa, M., Ohara, O. Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. DNA Res. 7: 143-150, 2000. [PubMed: 10819331] [Full Text: https://doi.org/10.1093/dnares/7.2.143]

  3. Quesada, V., Diaz-Perales, A., Gutierrez-Fernandez, A., Garabaya, C., Cal, S., Lopez-Otin, C. Cloning and enzymatic analysis of 22 novel human ubiquitin-specific proteases. Biochem. Biophys. Res. Commun. 314: 54-62, 2004. [PubMed: 14715245] [Full Text: https://doi.org/10.1016/j.bbrc.2003.12.050]


Contributors:
Ada Hamosh - updated : 1/27/2009

Creation Date:
Patricia A. Hartz : 1/21/2009

Edit History:
alopez : 01/28/2009
terry : 1/27/2009
mgross : 1/21/2009