ENSG00000114374


Homo sapiens

Features
Gene ID: ENSG00000114374
  
Biological name :USP9Y
  
Synonyms : O00507 / ubiquitin specific peptidase 9, Y-linked / USP9Y
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: Y
Strand: 1
Band: q11.221
Gene start: 12701231
Gene end: 12860839
  
Corresponding Affymetrix probe sets: 206624_at (Human Genome U133 Plus 2.0 Array)   228492_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000342812
Ensembl peptide - ENSP00000406876
NCBI entrez gene - 8287     See in Manteia.
OMIM - 400005
RefSeq - XM_017030078
RefSeq - NM_004654
RefSeq Peptide - NP_004645
swissprot - O00507
swissprot - H7C2M9
Ensembl - ENSG00000114374
  
Related genetic diseases (OMIM): 415000 - Spermatogenic failure, Y-linked, 2, 415000
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 Usp9yENSMUSG00000069044Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
USP9X / Q93008 / ubiquitin specific peptidase 9, X-linkedENSG0000012448692
USP24 / Q9UPU5 / ubiquitin specific peptidase 24ENSG0000016240231
USP34 / Q70CQ2 / ubiquitin specific peptidase 34ENSG0000011546420
USP7 / Q93009 / ubiquitin specific peptidase 7ENSG000001875557
USP47 / Q96K76 / ubiquitin specific peptidase 47ENSG000001702427
USP48 / Q86UV5 / ubiquitin specific peptidase 48ENSG000000906866
USP40 / Q9NVE5 / ubiquitin specific peptidase 40ENSG000000859826
USP41 / Q3LFD5 / ubiquitin specific peptidase 41ENSG000001611333
USP18 / Q9UMW8 / ubiquitin specific peptidase 18ENSG000001849793


Protein motifs (from Interpro)
Interpro ID Name
 IPR001394  Peptidase C19, ubiquitin carboxyl-terminal hydrolase
 IPR011989  Armadillo-like helical
 IPR016024  Armadillo-type fold
 IPR018200  Ubiquitin specific protease, conserved site
 IPR028889  Ubiquitin specific protease domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006508 proteolysis IEA
 biological_processGO:0006511 ubiquitin-dependent protein catabolic process IEA
 biological_processGO:0007179 transforming growth factor beta receptor signaling pathway ISS
 biological_processGO:0007283 spermatogenesis TAS
 biological_processGO:0016477 cell migration IBA
 biological_processGO:0016579 protein deubiquitination ISS
 biological_processGO:0030509 BMP signaling pathway ISS
 cellular_componentGO:0005737 cytoplasm IBA
 molecular_functionGO:0004843 thiol-dependent ubiquitin-specific protease activity TAS
 molecular_functionGO:0005488 binding IEA
 molecular_functionGO:0008233 peptidase activity IEA
 molecular_functionGO:0008234 cysteine-type peptidase activity TAS
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0036459 thiol-dependent ubiquitinyl hydrolase activity IEA
 molecular_functionGO:0070410 co-SMAD binding ISS


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000027 Azoospermia 
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 HP:0000028 Cryptorchidism "Absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis." [HPO:curators]
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 HP:0000798 Oligospermia 
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 HP:0001450 Y-linked inheritance "A mode of inheritance that is observed for traits related to a gene encoded on the Y chromosome." [HPO:curators]
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 HP:0003251 Male infertility 
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 HP:0008734 Decreased testicular size 
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 HP:0011961 Non-obstructive azoospermia "Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. Can be differentiated from obstructive azoospermia on the basis of testicular biopsy." [HPO:probinson, pmid:20514278]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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