Reviewed,
UniProtKB/Swiss-Prot O00507 (USP9Y_HUMAN)
Last modified
October 13, 2009.
Version 93.
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Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents
Names and origin
| Protein names | Recommended name: Probable ubiquitin carboxyl-terminal hydrolase FAF-Y EC=3.1.2.15 Alternative name(s): Ubiquitin thioesterase FAF-Y Ubiquitin-specific-processing protease FAF-Y Deubiquitinating enzyme FAF-Y Fat facets protein-related, Y-linked Ubiquitin-specific protease 9, Y chromosome | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) [Complete proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 2555 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | May function as a ubiquitin-protein or polyubiquitin hydrolase involved both in the processing of ubiquitin precursors and of ubiquitinated proteins. May therefore play an important role regulatory role at the level of protein turnover by preventing degradation of proteins through the removal of conjugated ubiquitin. Essential component of TGF-beta/BMP signaling cascade. Deubiquitinates monoubiquitinated SMAD4, opposing the activity of E3 ubiquitin-protein ligase TRIM33. Monoubiquitination of SMAD4 hampers its ability to form a stable complex with activated SMAD2/3 resulting in inhibition of TGF-beta/BMP signaling cascade. Deubiqitination of SMAD4 by USP9X re-empowers its competence to mediate TGF-beta signaling By similarity. |
| Catalytic activity | Ubiquitin C-terminal thioester + H2O = ubiquitin + a thiol. |
| Subunit structure | Interacts with SMAD4 By similarity. |
| Subcellular location | Cytoplasm By similarity. |
| Tissue specificity | Widely expressed in embryonic and adult tissues. |
| Involvement in disease | USP9Y is deleted in non-obstructive hypospermatogenesis [MIM:400042]. Defects in USP9Y are a cause of non-obstructive azoospermia and infertility [MIM:415000]. |
| Sequence similarities | Belongs to the peptidase C19 family. |
Ontologies
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] Note: Additional isoforms seem to exist. | ||||||
| Isoform Long (identifier: O00507-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform Short (identifier: O00507-2) The sequence of this isoform differs from the canonical sequence as follows: 2071-2555: Missing. | ||||||
| Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 2555 | 2555 | Probable ubiquitin carboxyl-terminal hydrolase FAF-Y | PRO_0000080690 | |||||
Sites | |||||||||
| Active site | 1568 | 1 | By similarity | ||||||
| Active site | 1873 | 1 | By similarity | ||||||
| Active site | 1881 | 1 | By similarity | ||||||
Natural variations | |||||||||
| Alternative sequence | 2071 – 2555 | 485 | Missing in isoform Short. | VSP_005272 | |||||
| Natural variant | 65 | 1 | E → D: dbSNP rs7067496. | VAR_055350 | |||||
| Natural variant | 211 | 1 | R → C: dbSNP rs2032596. | VAR_055351 | |||||
| Natural variant | 1035 | 1 | P → S: dbSNP rs20319. | VAR_029328 | |||||
| Natural variant | 1060 | 1 | A → T: dbSNP rs20320. Ref.3 | VAR_016194 | |||||
| Natural variant | 1705 | 1 | A → S: dbSNP rs2032606. | VAR_055352 | |||||
Experimental info | |||||||||
| Sequence conflict | 206 | 1 | D → E in CAA73940. Ref.3 | ||||||
| Sequence conflict | 206 | 1 | D → E in CAA73941. Ref.3 | ||||||
| Sequence conflict | 282 | 1 | I → M in AAC51833. Ref.2 | ||||||
| Sequence conflict | 524 | 1 | D → Y in AAC51833. Ref.2 | ||||||
| Sequence conflict | 542 | 1 | S → A in AAC51833. Ref.2 | ||||||
| Sequence conflict | 666 | 1 | L → V in AAC51833. Ref.2 | ||||||
| Sequence conflict | 883 | 1 | R → C in CAA73940. Ref.3 | ||||||
| Sequence conflict | 883 | 1 | R → C in CAA73941. Ref.3 | ||||||
| Sequence conflict | 907 | 1 | S → F in CAA73940. Ref.3 | ||||||
| Sequence conflict | 907 | 1 | S → F in CAA73941. Ref.3 | ||||||
| Sequence conflict | 946 | 1 | D → N in CAA73940. Ref.3 | ||||||
| Sequence conflict | 946 | 1 | D → N in CAA73941. Ref.3 | ||||||
| Sequence conflict | 1002 | 1 | E → K in CAA73940. Ref.3 | ||||||
| Sequence conflict | 1002 | 1 | E → K in CAA73941. Ref.3 | ||||||
| Sequence conflict | 1017 | 1 | R → K in CAA73940. Ref.3 | ||||||
| Sequence conflict | 1017 | 1 | R → K in CAA73941. Ref.3 | ||||||
| Sequence conflict | 1025 – 1027 | 3 | VAD → FAN in CAA73940. Ref.3 | ||||||
| Sequence conflict | 1025 – 1027 | 3 | VAD → FAN in CAA73941. Ref.3 | ||||||
| Sequence conflict | 1038 – 1039 | 2 | RD → KN in CAA73940. Ref.3 | ||||||
| Sequence conflict | 1038 – 1039 | 2 | RD → KN in CAA73941. Ref.3 | ||||||
| Sequence conflict | 1067 | 1 | K → N in CAA73940. Ref.3 | ||||||
| Sequence conflict | 1067 | 1 | K → N in CAA73941. Ref.3 | ||||||
| Sequence conflict | 1258 | 1 | V → F in CAA73940. Ref.3 | ||||||
| Sequence conflict | 1258 | 1 | V → F in CAA73941. Ref.3 | ||||||
| Sequence conflict | 1733 | 1 | Y → F in CAA73940. Ref.3 | ||||||
| Sequence conflict | 1733 | 1 | Y → F in CAA73941. Ref.3 | ||||||
| Sequence conflict | 1953 | 1 | L → P in CAA73940. Ref.3 | ||||||
| Sequence conflict | 1953 | 1 | L → P in CAA73941. Ref.3 | ||||||
| Sequence conflict | 2086 | 1 | R → G in AAC51833. Ref.2 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "The Drosophila developmental gene fat facets has a human homologue in Xp11.4 which escapes X-inactivation and has related sequences on Yq11.2." Jones M.H., Furlong R.A., Burkin H., Chalmers I.J., Brown G.M., Khwaja O., Affara N.A. Hum. Mol. Genet. 5:1695-1701(1996) [PubMed: 8922996] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Testis. |
| [2] | "Functional coherence of the human Y chromosome." Lahn B.T., Page D.C. Science 278:675-680(1997) [PubMed: 9381176] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. |
| [3] | "Characterisation of the coding sequence and fine mapping of the human DFFRY gene and comparative expression analysis and mapping to the Sxrb interval of the mouse Y chromosome of the Dffry gene." Brown G.M., Furlong R.A., Sargent C.A., Erickson R.P., Longepied G., Mitchell M., Jones M.H., Hargreave T.B., Cooke H.J., Affara N.A. Hum. Mol. Genet. 7:97-107(1998) [PubMed: 9384609] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], GENE MAPPING, VARIANT THR-1060. Tissue: Fetal brain, Retina and Testis. |
| [4] | "The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes." Skaletsky H., Kuroda-Kawaguchi T., Minx P.J., Cordum H.S., Hillier L.W., Brown L.G., Repping S., Pyntikova T., Ali J., Bieri T., Chinwalla A., Delehaunty A., Delehaunty K., Du H., Fewell G., Fulton L., Fulton R., Graves T.A.  Page D.C.Nature 423:825-837(2003) [PubMed: 12815422] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | "An unappreciated role for RNA surveillance." Hillman R.T., Green R.E., Brenner S.E. Genome Biol. 5:RESEARCH008.1-RESEARCH008.16(2004) [PubMed: 14759258] [Abstract] Cited for: SPLICE ISOFORM(S) THAT ARE POTENTIAL NMD TARGET(S). |
| [6] | Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| AF000986 mRNA. Translation: AAC51833.1. Y13618 mRNA. Translation: CAA73940.1. Y13619 mRNA. Translation: CAA73941.1. AC002531 Genomic DNA. No translation available. | |
| IPI | IPI00744575. IPI00874074. |
| RefSeq | NP_004645.2. |
| UniGene | Hs.655309 |
3D structure databases | |
| HSSP | HSSP built from PDB template 1NB8 based on UniProtKB Q93009. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | O00507. |
Protein family/group databases | |
| MEROPS | C19.028. |
PTM databases | |
| PhosphoSite | O00507. |
Proteomic databases | |
| PRIDE | O00507. |
Genome annotation databases | |
| Ensembl | ENST00000338981; ENSP00000342812; ENSG00000114374; Homo sapiens. [Genome view] ENST00000453031; ENSP00000406876; ENSG00000114374; Homo sapiens. [Genome view] |
| GeneID | 8287. |
| KEGG | hsa:8287. |
| UCSC | uc004fst.1. human. |
Organism-specific databases | |
| CTD | 8287. |
| GeneCards | GC0YP013251. GC0YP013322. |
| HGNC | HGNC:12633. USP9Y. |
| MIM | 400005. gene. 400042. phenotype. 415000. phenotype. |
| Orphanet | 1646. Chromosome Y deletion. |
| PharmGKB | PA37258. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOVERGEN | O00507. |
Enzyme and pathway databases | |
| BRENDA | 3.1.2.15. 247. |
Gene expression databases | |
| ArrayExpress | O00507. |
| Bgee | O00507. |
| CleanEx | HS_USP10. HS_USP9Y. |
| Genevestigator | O00507. |
| GermOnline | ENSG00000114374. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR018200. Pept_C19ubi-hydrolase_C_CS. IPR001394. Peptidase_C19. [Graphical view] |
| Pfam | PF00443. UCH. 1 hit. [Graphical view] |
| PROSITE | PS00972. UCH_2_1. 1 hit. PS00973. UCH_2_2. 1 hit. PS50235. UCH_2_3. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 31053. |
| SOURCE | Search... |
Entry information
| Entry name | USP9Y_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O00507 Secondary accession number(s): O14601 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome Y Human chromosome Y: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| Peptidase families Classification of peptidase families and list of entries |
| SIMILARITY comments Index of protein domains and families |
