USP9X wt Allele

Preferred Label : USP9X wt Allele;

NCIt synonyms : MRX99; FAM; FAF; Drosophila Fat Facets Related, X-Linked Gene; DFFRX; hFAM; MRXS99F; XLID99; Ubiquitin Specific Peptidase 9 X-Linked wt Allele; Ubiquitin Specific Protease 9, X Chromosome (Fat Facets-Like Drosophila) Gene; Fat Facets Protein Related, X-Linked Gene; Ubiquitin Specific Peptidase 9, X-Linked (Fat Facets-Like, Drosophila) Gene; Ubiquitin Specific Protease 9, X-Linked (Fat Facets-Like, Drosophila) Gene;

NCIt definition : Human USP9X wild-type allele is located in the vicinity of Xp11.4 and is approximately 151 kb in length. This allele, which encodes probable ubiquitin carboxyl-terminal hydrolase FAF-X protein, is involved in the modulation of protein ubiquitination.;

NCIt note : Loss of expression of the USP9X gene may be associated with increased tumorigenicity of pancreatic ductal adenocarcinoma. (Nature. 2012; dx.doi.org/10.1038/nature11114.);

GenBank Accession Number : X98296;

Details

Origin ID

C101575;

UMLS CUI

C3541878;

Automatic exact mappings (from CISMeF team)
- FA complementation group F [ORDO Gene]
- Intellectual developmental disorder, X-linked 99 [OMIM Phenotype]
- Intellectual developmental disorder, X-linked 99, syndromic, female-restricted [OMIM Phenotype]
- Ubiquitin-specific protease 9, X-linked [OMIM gene]
- non-syndromic X-linked intellectual disability 99 [DO Concept]
- ubiquitin specific peptidase 9 X-linked [ORDO Gene]
OMIM relation
- Ubiquitin-specific protease 9, X-linked [OMIM gene]
See also inter- (CISMeF)
- female-restricted syndromic X-linked intellectual disability 99 [DO Concept]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Deubiquitination [NCIt concept]
- Hydrolysis [NCIt concept]
- Proteolysis [NCIt concept]
- Regulation of Proteolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

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