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USP9Y Gene

protein-coding   GIFtS: 63
GCID: GC0YP014813

Ubiquitin Specific Peptidase 9, Y-Linked

(Previous names: ubiquitin specific peptidase 9, Y-linked (fat facets-like,...)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Ubiquitin Specific Peptidase 9, Y-Linked1 2     SPGFY22 5
DFFRY2 3 5     Fat Facets-Like Homolog (Drosophila)1
Ubiquitin Specific Peptidase 9, Y-Linked (Fat Facets-Like, Drosophila)1 2     Probable Ubiquitin Carboxyl-Terminal Hydrolase FAF-Y2
Deubiquitinating Enzyme FAF-Y2 3     Ubiquitin Thiolesterase FAF-Y2
Fat Facets Protein-Related, Y-Linked2 3     Ubiquitin-Specific Processing Protease FAF-Y2
Ubiquitin Thioesterase FAF-Y2 3     EC 3.4.19.123
Ubiquitin-Specific Protease 9, Y Chromosome2 3     EC 3.1.2.158
Ubiquitin-Specific-Processing Protease FAF-Y2 3     

External Ids:    HGNC: 126331   Entrez Gene: 82872   Ensembl: ENSG000001143747   OMIM: 4000055   UniProtKB: O005073   

Export aliases for USP9Y gene to outside databases

Previous GC identifers: GC0YP014123 GC0YP013821 GC0YP013251 GC0YP009466


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for USP9Y Gene:
This gene is a member of the peptidase C19 family. It encodes a protein that is similar to ubiquitin-specific
proteases, which cleave the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins.
(provided by RefSeq, Mar 2009)

GeneCards Summary for USP9Y Gene:
USP9Y (ubiquitin specific peptidase 9, Y-linked) is a protein-coding gene. Diseases associated with USP9Y include spermatogenic failure, y-linked, 2, and y chromosome infertility. GO annotations related to this gene include ubiquitin-specific protease activity and ubiquitin thiolesterase activity. An important paralog of this gene is USP24.

UniProtKB/Swiss-Prot: USP9Y_HUMAN, O00507
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)

Gene Wiki entry for USP9Y Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000024.10  NT_011875.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the USP9Y gene promoter:
         Bach1   GR   PPAR-alpha   SRY   Spz1   GR-beta   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUSP9Y promoter sequence
   Search Chromatin IP Primers for USP9Y

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat USP9Y


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Yq11.2   Ensembl cytogenetic band:  Yq11.21   HGNC cytogenetic band: Yq11.2

USP9Y Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
USP9Y gene location

GeneLoc information about chromosome Y         GeneLoc Exon Structure

GeneLoc location for GC0YP014813:  view genomic region     (about GC identifiers)

Start:
14,813,160 bp from pter      End:
14,972,768 bp from pter
Size:
159,609 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: USP9Y_HUMAN, O00507 (See protein sequence)
Recommended Name: Probable ubiquitin carboxyl-terminal hydrolase FAF-Y  
Size: 2555 amino acids; 291077 Da
Subunit: Interacts with SMAD4 (By similarity)
Secondary accessions: O14601
Alternative splicing: 2 isoforms:  O00507-1   O00507-2   (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for USP9Y: NX_O00507

Explore proteomics data for USP9Y at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys316, Lys425, Lys487, Lys572, Lys795, Lys1154, Lys1639, Lys1671, Lys1724, Lys1813,
                                 Lys2361
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for USP9Y (O00507) (see all 16)
     INKDFFE  PFGQCYE  HYQKRAYQ  IQQLYMIP 


    See USP9Y Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004645.2  
    ENSEMBL proteins: 
     ENSP00000342812   ENSP00000406876  

    USP9Y Human Recombinant Protein Products:

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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for USP9Y

    USP9Y Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Novus Biologicals USP9Y Antibodies
    Abcam antibodies for USP9Y
    Cloud-Clone Corp. Antibodies for USP9Y
    Search ThermoFisher Antibodies for USP9Y
    LSBio Antibodies in human, mouse, rat for USP9Y

    USP9Y Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for USP9Y
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for USP9Y
    Cloud-Clone Corp. CLIAs for USP9Y


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    USP: Ubiquitin-specific peptidases

    4 InterPro protein domains:
     IPR001394 Peptidase_C19_UCH
     IPR018200 Pept_C19ubi-hydrolase_C_CS
     IPR028889 UCH/PAN2
     IPR016024 ARM-type_fold

    Graphical View of Domain Structure for InterPro Entry O00507

    ProtoNet protein and cluster: O00507

    2 Blocks protein domains:
    IPB001394 Ubiquitin thiolesterase
    IPB001464 Annexin


    UniProtKB/Swiss-Prot: USP9Y_HUMAN, O00507
    Similarity: Belongs to the peptidase C19 family
    Similarity: Contains 1 USP domain


    USP9Y for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: USP9Y_HUMAN, O00507
    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: Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by
    the C-terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal)

         Genatlas biochemistry entry for USP9Y:
    ubiquitin specific protease 9,Y chromosome,Drosophila developmental gene fat facets related on the Y,expressed in
    a wide range of embryonic and adult tissues,including testis,deubiquitin family,in a AZF deleted
    region,deubiquitin enzyme family

         Enzyme Numbers (IUBMB): EC 3.1.2.152 EC 3.4.19.121

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004221ubiquitin thiolesterase activity ----
    GO:0004843ubiquitin-specific protease activity TAS9384609
    GO:0005488binding ----
    GO:0008234cysteine-type peptidase activity TAS8922996
    GO:0070410co-SMAD binding ISS--
         
    USP9Y for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for USP9Y:
     Increased cell death HMECs cel  Synthetic lethal with Ras  Synthetic lethal with c-Myc af 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for USP9Y
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    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate USP9Y (see all 26):
    hsa-miR-4291 hsa-miR-181c hsa-miR-520d-5p hsa-miR-575 hsa-miR-3653 hsa-miR-1257 hsa-miR-132 hsa-miR-3692
    SwitchGear 3'UTR luciferase reporter plasmidUSP9Y 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat USP9Y

    Gene Editing
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: USP9Y (NM_004654)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for USP9Y
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat USP9Y

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for USP9Y


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    USP9Y_HUMAN, O00507: Cytoplasm (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane3
    cytosol2

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ISS--

    USP9Y for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for USP9Y About    
    See pathways by source

    SuperPathContained pathways About
    1Ubiquitin-Proteasome Dependent Proteolysis
    Ubiquitin-Proteasome Dependent Proteolysis

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for USP9Y
        Ubiquitin-Proteasome Dependent Proteolysis


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for USP9Y
    Interactions:

        Search GeneGlobe Interaction Network for USP9Y

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for USP9Y (O005072, 3 ENSP000003428124) via UniProtKB, MINT, STRING, and/or I2D (see all 75)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SIRT1Q96EB63, ENSP000002120154I2D: score=2 STRING: ENSP00000212015
    MAPTP106363, ENSP000003408204I2D: score=1 STRING: ENSP00000340820
    SHC1P293533, ENSP000004013034I2D: score=1 STRING: ENSP00000401303
    RNF20Q5VTR22, ENSP000003737724MINT-7230300 STRING: ENSP00000373772
    PMS1P542773, ENSP000004064904I2D: score=1 STRING: ENSP00000406490
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006511ubiquitin-dependent protein catabolic process IEA--
    GO:0007179transforming growth factor beta receptor signaling pathway ISS--
    GO:0007283spermatogenesis TAS9384609
    GO:0016579protein deubiquitination ISS--
    GO:0030509BMP signaling pathway ISS--

    USP9Y for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for USP9Y

    1 HMDB Compound for USP9Y    About this table
    CompoundSynonyms CAS #PubMed Ids
    WaterDihydrogen oxide (see all 2)7732-18-5--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for USP9Y gene: 
    NM_004654.3  

    Unigene Cluster for USP9Y:

    Ubiquitin specific peptidase 9, Y-linked
    Hs.598540  [show with all ESTs]
    Unigene Representative Sequence: NM_004654
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000338981(uc010nwt.1 uc004fst.1 uc010nwu.1) ENST00000493168
    ENST00000426564 ENST00000453031 ENST00000471409
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat USP9Y using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate USP9Y (see all 26):
    hsa-miR-4291 hsa-miR-181c hsa-miR-520d-5p hsa-miR-575 hsa-miR-3653 hsa-miR-1257 hsa-miR-132 hsa-miR-3692
    SwitchGear 3'UTR luciferase reporter plasmidUSP9Y 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat USP9Y
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    GenScript: all cDNA clones in your preferred vector: USP9Y (NM_004654)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for USP9Y
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat USP9Y
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for USP9Y
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat USP9Y
      QuantiTect SYBR Green Assays in human, mouse, rat USP9Y
      QuantiFast Probe-based Assays in human, mouse, rat USP9Y

    Additional mRNA sequence: 

    AF000986.2 DQ151535.1 Y13618.1 

    9 DOTS entries:

    DT.213877  DT.95216490  DT.100734324  DT.101964823  DT.100651432  DT.86841106  DT.92005439  DT.92452369 
    DT.40196882 

    Selected AceView cDNA sequences (see all 88):

    BQ002211 CA394805 BX098675 AA864609 BQ101190 CK823171 CA393062 AI580306 
    H70731 BE646319 BQ934848 BF592847 AK057605 NR_001545 N48507 AF000986 
    AL045209 AL138331 AL080135 Z21230 Y13618 CD654011 BQ230673 BI489597 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for USP9Y (see all 14)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19a · 19b ^ 20a · 20b · 20c ^ 21 ^
    SP1:                                                                                                                                                            
    SP2:              -                                                                                                                                             
    SP3:                                                                                                                          -           -                     
    SP4:                                                                                                                          -                                 
    SP5:                                                                                                                                                            

    ExUns: 22 ^ 23a · 23b ^ 24 ^ 25 ^ 26 ^ 27 ^ 28a · 28b · 28c ^ 29a · 29b ^ 30a · 30b
    SP1:                          -     -                             -                     
    SP2:                                                                                    
    SP3:                                                                                    
    SP4:                                                                                    
    SP5:                                -                                                   


    ECgene alternative splicing isoforms for USP9Y

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    USP9Y expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATGACAGTG
    USP9Y Expression
    About this image

    USP9Y Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    USP9Y Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.598540

    UniProtKB/Swiss-Prot: USP9Y_HUMAN, O00507
    Tissue specificity: Widely expressed in embryonic and adult tissues

        Custom PCR Arrays for USP9Y
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    QuantiFast Probe-based Assays in human, mouse, rat USP9Y
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for USP9Y

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for USP9Y gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Usp9y1 , 5 ubiquitin specific peptidase 9, Y chromosome1, 5 85.52(n)1
    83.02(a)1
      Y5
    1078681  NM_148943.21  NP_683745.21 
     12989575 
    chicken
    (Gallus gallus)
    Aves --
    Ubiquitin carboxyl-terminal hydrolase
    90(a)
    1 → many
    1(111416662-111489576)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Ubiquitin carboxyl-terminal hydrolase
    89(a)
    1 → many
    3(133958557-134041276)
    zebrafish
    (Danio rerio)
    Actinopterygii usp96
    ubiquitin specific peptidase 9
    84(a)
    1 → many
    9(34294638-34354348) ENSDARG00000013708
    fruit fly
    (Drosophila melanogaster)
    Insecta faf3 protein deubiquitination
    ubiquitin-specific protease
    46(a)   100D2   --
    worm
    (Caenorhabditis elegans)
    Secernentea T24B8.76
    Protein T24B8.7, isoform a
    14(a)
    1 → many
    II(9042776-9053824) WBGene00011980


    ENSEMBL Gene Tree for USP9Y (if available)
    TreeFam Gene Tree for USP9Y (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for USP9Y gene
    USP242  USP182  USP482  USP412  USP402  USP72  USP472  USP342  
    USP9X2  
    1 SIMAP similar gene for USP9Y using alignment to 3 protein entries:     USP9Y_HUMAN (see all proteins):
    USP9X

    USP9Y for paralogs           About GeneDecksing


    Selected Pseudogenes.org Pseudogenes for USP9Y (see all 30)
    PGOHUM00000233700 PGOHUM00000233758 PGOHUM00000233762 PGOHUM00000233769 PGOHUM00000233774


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for USP9Y (see all 833)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr Y posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs97865221,2
    C--14811240(+) tctggC/Gggatg 1 -- us2k11Minor allele frequency- G:0.00WA 2
    rs20325941,2
    C--14813717(+) CAGTTT/CAAAGG 1 -- ut51 ese33Minor allele frequency- C:0.00MN NA 256
    rs20325951,2
    C,F--14813991(+) TGAGTT/CGCTAG 1 -- int13Minor allele frequency- C:0.12NA CSA 73
    rs133043951,2
    C--14814539(+) TGAGGG/TTCCTT 1 -- int10--------
    rs133043961,2
    C--14814540(+) GAGGTG/TCCTTG 1 -- int10--------
    rs133044211,2
    C--14814550(+) GAGGGG/TATAtt 1 -- int10--------
    rs133050081,2
    C--14814602(+) agtgtG/Tgaatc 1 -- int10--------
    rs133058681,2
    C--14817309(+) tgtctG/Tgggga 1 -- int10--------
    rs1493714561,2
    C--14819044(+) ACTTT-/TTTG  
            
    GTTTG
    1 -- int10--------
    rs581720811,2
    C--14825719(+) TGTTTG/TTTTTT 1 -- int11Minor allele frequency- T:0.00WA 2

    HapMap Linkage Disequilibrium report for USP9Y (14813160 - 14972768 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for USP9Y: --
    Human Gene Mutation Database (HGMD): USP9Y
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing USP9Y
    DNA2.0 Custom Variant and Variant Library Synthesis for USP9Y

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 400005   
    OMIM disorders: 415000  
    UniProtKB/Swiss-Prot: USP9Y_HUMAN, O00507
  • Note=USP9Y is located in the 'azoospermia factor a' (AZFa) region on chromosome Y which is deleted in
    Sertoli cell-only syndrome. This is an infertility disorder in which no germ cells are visible in seminiferous
    tubules leading to azoospermia. However, AZFa deletions resulting in complete loss of USP9Y have also been found
    in normospermic men (PubMed:19246359)
  • Spermatogenic failure Y-linked 2 (SPGFY2) [MIM:415000]: A disorder resulting in the absence (azoospermia)
    or reduction (oligozoospermia) of sperm in the semen, leading to male infertility. Note=The disease may be caused
    by mutations affecting the gene represented in this entry. The role of USP9Y in spermatogenesis failure is
    uncertain. A 4-bp deletion in a splice-donor site, causing exon skipping and protein truncation has been observed
    in non-obstructive azoospermia (PubMed:10581029). However, complete USP9Y deletion has been detected in
    individuals with no spermatogenic defects (PubMed:19246359)

  • 18 diseases for USP9Y:    
    About MalaCards
    spermatogenic failure, y-linked, 2    y chromosome infertility    oligospermia    varicocele
    sertoli cell-only syndrome    spermatogenic failure    azoospermia    klinefelter's syndrome
    male infertility    cryptorchidism    infertility    testicular cancer
    meningioma    multiple myeloma    myeloma    prostate cancer
    prostatitis    breast cancer

    2 diseases from the University of Copenhagen DISEASES database for USP9Y:
    Azoospermia     Sertoli cell-only syndrome

    USP9Y for disorders           About GeneDecksing

    5 Novoseek inferred disease relationships for USP9Y gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    azoospermia 83.6 10 19246359 (2), 11097428 (1), 11869379 (1), 10581029 (1) (see all 5)
    oligozoospermia 80.6 2 19246359 (1)
    chromosome deletion 70.8 2 17296183 (1), 10402373 (1)
    infertility male 69 2 10402373 (1), 11294825 (1)
    infertility 45.2 6 19246359 (2), 16893908 (1)

    GeneTests: USP9Y
    GeneReviews: USP9Y
    Genetic Association Database (GAD): USP9Y
    Human Genome Epidemiology (HuGE) Navigator: USP9Y (10 documents)

    Export disorders for USP9Y gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for USP9Y gene, integrated from 10 sources (see all 54):
    (articles sorted by number of sources associating them with USP9Y)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Spermatogenesis in a man with complete deletion of USP9Y. (PubMed id 19246359)1, 2, 3, 9 Luddi A.... Piomboni P. (N. Engl. J. Med. 2009)
    2. 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. (PubMed id 9384609)1, 2, 3, 9 Brown G.M.... Affara N.A. (Hum. Mol. Genet. 1998)
    3. The Drosophila developmental gene fat facets has a human homologue in Xp11.4 which escapes X-inactivation and has related sequences on Yq11.2. (PubMed id 8922996)1, 2, 3 Jones M.H.... Affara N.A. (Hum. Mol. Genet. 1996)
    4. An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y. (PubMed id 10581029)1, 2, 9 Sun C.... Page D.C. (Nat. Genet. 1999)
    5. Genetic variants of Y chromosome are associated with a protective lipid profile in black men. (PubMed id 18511697)1, 4, 9 Russo P....Cappuccio F.P. (Arterioscler. Thromb. Vasc. Biol. 2008)
    6. Functional coherence of the human Y chromosome. (PubMed id 9381176)1, 2 Lahn B.T. and Page D.C. (Science 1997)
    7. Natural transmission of USP9Y gene mutations: a new perspective on the role of AZFa genes in male fertility. (PubMed id 16893908)1, 9 Krausz C....Forti G. (Hum. Mol. Genet. 2006)
    8. Usp9y (ubiquitin-specific protease 9 gene on the Y) is associated with a functional promoter and encodes an intact open reading frame homologous to Usp9x that is under selective constraint. (PubMed id 12925892)1, 9 Hall N.M....Affara N.A. (Mamm. Genome 2003)
    9. A preliminary report on the implication of RT-PCR detection of DAZ, RBMY1, USP9Y and Protamine-2 mRNA in testicular biopsy samples from azoospermic men. (PubMed id 11869379)1, 9 Friel A....Maher M. (Int. J. Androl. 2002)
    10. AZF gene expression analysis in peripheral leukocytes and testicular cells from idiopathic infertility. (PubMed id 18357961)1, 9 Song N.H....Wu H.F. (Arch. Androl. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 8287 HGNC: 12633 AceView: USP9YandTTTY15 Ensembl:ENSG00000114374 euGenes: HUgn8287
    ECgene: USP9Y H-InvDB: USP9Y

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for USP9Y Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=USP9Y[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for USP9Y gene:
    Search GeneIP for patents involving USP9Y

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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