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This gene encodes a member of the ubiquitin-specific processing (UBP) family of proteases that is a deubiquitinating enzyme (DUB) with His and Cys domains. This protein is located in the cytoplasm and cleaves the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins. The protein specifically deubiquitinates a protein in the Fanconi anemia (FA) DNA repair pathway. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]
USP1 (Ubiquitin Specific Peptidase 1) is a Protein Coding gene. Diseases associated with USP1 include Fanconi Anemia, Complementation Group I and Mast Syndrome. Among its related pathways are Ubiquitin-Proteasome Dependent Proteolysis and miR-517 relationship with ARCN1 and USP1. Gene Ontology (GO) annotations related to this gene include cysteine-type endopeptidase activity and thiol-dependent ubiquitinyl hydrolase activity. An important paralog of this gene is USP8.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004197 | cysteine-type endopeptidase activity | TAS,IBA | 21873635 |
GO:0004843 | thiol-dependent ubiquitin-specific protease activity | TAS,IMP | 20129063 |
GO:0005515 | protein binding | IPI | 18082604 |
GO:0008233 | peptidase activity | EXP | 16531995 |
GO:0008234 | cysteine-type peptidase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IBA,IDA | 18082604 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005829 | cytosol | IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Fanconi anemia pathway | ||
2 | DNA Damage | ||
3 | Ubiquitin-Proteasome Dependent Proteolysis |
Ubiquitin-Proteasome Dependent Proteolysis
-
|
|
4 | Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template | ||
5 | DNA Double-Strand Break Repair |
.53
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001501 | skeletal system development | IEA | -- |
GO:0006281 | DNA repair | IEA | -- |
GO:0006282 | regulation of DNA repair | IDA | 18082604 |
GO:0006508 | proteolysis | IEA | -- |
GO:0006511 | ubiquitin-dependent protein catabolic process | IEA | -- |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | USP1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | USP1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | USP1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Usp1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Usp1 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | USP1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | USP1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | USP1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | USP1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | usp1 30 |
|
||
Str.2887 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | LOC398530 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | usp1 30 31 |
|
OneToOne | |
wufb43a02 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG15817 31 |
|
OneToOne | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | UBP9 31 |
|
ManyToMany | |
UBP13 31 |
|
ManyToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs114296661 | Benign: not provided | 62,450,639(+) |
A/G NM_003368.5(USP1):c.2016A>G (p.Gln672=) |
SYNONYMOUS | |
rs140409730 | Benign: not provided | 62,445,230(+) |
C/T NM_003368.5(USP1):c.1050C>T (p.Ser350=) |
SYNONYMOUS | |
rs751218576 | Not Provided: not provided | 62,450,600(+) |
CA/C NM_003368.5(USP1):c.1985del (p.Asn662fs) |
FRAMESHIFT |
Disorder | Aliases | PubMed IDs |
---|---|---|
fanconi anemia, complementation group i |
|
|
mast syndrome |
|
|
paranoid personality disorder |
|
|
xeroderma pigmentosum, variant type |
|
|
fanconi anemia, complementation group a |
|
|