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The protein encoded by this gene is a protease that functions as a deubiquitinating enzyme. The encoded protein is thought to help regulate the spindle assembly checkpoint by preventing early anaphase onset. This protein specifically deubiquitinates CDC20, which stabilizes the anaphase promoting complex/cyclosome. [provided by RefSeq, Dec 2016]
USP44 (Ubiquitin Specific Peptidase 44) is a Protein Coding gene. Diseases associated with USP44 include Embryonal Carcinoma and Charge Syndrome. Among its related pathways are Metabolism of proteins and Deubiquitination. Gene Ontology (GO) annotations related to this gene include cysteine-type endopeptidase activity and thiol-dependent ubiquitin-specific protease activity. An important paralog of this gene is USP49.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004843 | thiol-dependent ubiquitin-specific protease activity | IDA | 14715245 |
GO:0005515 | protein binding | IPI | 17443180 |
GO:0008233 | peptidase activity | IEA | -- |
GO:0008234 | cysteine-type peptidase activity | IEA | -- |
GO:0008270 | zinc ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA,IDA | 20402667 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005737 | cytoplasm | IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Deubiquitination |
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2 | Metabolism of proteins | ||
3 | Ubiquitin-Proteasome Dependent Proteolysis |
Ubiquitin-Proteasome Dependent Proteolysis
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|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006508 | proteolysis | IEA | -- |
GO:0006511 | ubiquitin-dependent protein catabolic process | IEA | -- |
GO:0007049 | cell cycle | IEA | -- |
GO:0007059 | chromosome segregation | IEA | -- |
GO:0016579 | protein deubiquitination | TAS | -- |
ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | · | 7c | · | 7d | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | ||||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | |||||||||||||||||||||||||
SP5: | - | ||||||||||||||||||||||||||||||
SP6: | - | - |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | USP44 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | USP44 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | USP44 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Usp44 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | USP44 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | USP44 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | USP44 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | USP44 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | usp44 30 |
|
||
Str.10247 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.10183 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | usp44 30 31 |
|
OneToOne | |
zgc55661 30 |
|
||||
Worm (Caenorhabditis elegans) |
Secernentea | E01B7.1 31 |
|
ManyToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | UBP5 31 |
|
ManyToMany | |
DOA4 31 |
|
ManyToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.3289 30 |
|
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
715654 | Benign: not provided | 95,533,170(-) | C/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
770607 | Benign: not provided | 95,533,215(-) | T/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
779606 | Benign: not provided | 95,534,152(-) | G/C | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
783038 | Benign: not provided | 95,533,549(-) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
870251 | Uncertain Significance: Intellectual disability, moderate | 95,533,371(-) | TAAGTAAATGACTC/A | FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv4234n106 | CNV | deletion | 24896259 |
esv3558848 | CNV | deletion | 23714750 |
esv3580379 | CNV | loss | 25503493 |
nsv1052350 | CNV | gain | 25217958 |
nsv1076254 | CNV | deletion | 25765185 |
nsv1152091 | CNV | deletion | 26484159 |
nsv528896 | CNV | gain | 19592680 |
nsv559808 | CNV | gain | 21841781 |
nsv7234 | OTHER | inversion | 18451855 |
Disorder | Aliases | PubMed IDs |
---|---|---|
embryonal carcinoma |
|
|
charge syndrome |
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