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    USP9Y ubiquitin specific peptidase 9 Y-linked [ Homo sapiens (human) ]

    Gene ID: 8287, updated on 7-Apr-2024

    Summary

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    Official Symbol
    USP9Yprovided by HGNC
    Official Full Name
    ubiquitin specific peptidase 9 Y-linkedprovided by HGNC
    Primary source
    HGNC:HGNC:12633
    See related
    Ensembl:ENSG00000114374 MIM:400005; AllianceGenome:HGNC:12633
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DFFRY; FAF-Y; SPGFY2
    Summary
    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]
    Expression
    Broad expression in prostate (RPKM 5.7), testis (RPKM 2.9) and 20 other tissues See more
    Orthologs
    all
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    Genomic context

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    Location:
    Yq11.221
    Exon count:
    48
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) Y NC_000024.10 (12701231..12860839)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) Y NC_060948.1 (13609504..13769113)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) Y NC_000024.9 (14813160..14972764)

    Chromosome Y - NC_000024.10Genomic Context describing neighboring genes Neighboring gene mediator complex subunit 14 pseudogene 1 Neighboring gene uncharacterized LOC112268311 Neighboring gene testis expressed transcript, Y-linked 15 Neighboring gene chromodomain Y-linked 4 pseudogene Neighboring gene DEAD-box helicase 3 Y-linked Neighboring gene calcium/calmodulin dependent serine protein kinase pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. [Identification of a novel Y-SNP in the USP9Y gene and its impact on genotyping alleles of the M46 locus]. Rebała K, et al. Arch Med Sadowej Kryminol, 2012 Jul-Sep. PMID 23650841
    2. A rare Y chromosome missense mutation in exon 25 of human USP9Y revealed by pyrosequencing. Sims LM, et al. Biochem Genet, 2008 Apr. PMID 18205040
    3. [A genetic study on microdeletion of azoospermia factor region on Y chromosome of azoospermia and oligozoospermia patients]. Cai ZM, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2005 Feb. PMID 15696490
    4. Protein structure prediction for the male-specific region of the human Y chromosome. Ginalski K, et al. Proc Natl Acad Sci U S A, 2004 Feb 24. PMID 14983005, Free PMC Article
    5. Ubiquitin-specific protease activity of USP9Y, a male infertility gene on the Y chromosome. Lee KH, et al. Reprod Fertil Dev, 2003. PMID 12895410

    See all (47) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Antioncogenic roles of USP9Y and DDX3Y in lung cancer: USP9Y stabilizes DDX3Y by preventing its degradation through deubiquitination.
      Title: Antioncogenic roles of USP9Y and DDX3Y in lung cancer: USP9Y stabilizes DDX3Y by preventing its degradation through deubiquitination.
    2. This is the first research investigating the utility of TTTY15-USP9Y in prostate cancer detection
      Title: Clinical utility of a novel urine-based gene fusion TTTY15-USP9Y in predicting prostate biopsy outcome.
    3. An impact of the identified polymorphism on discrimination of alleles of the M46 locus with various techniques was discussed, and solutions ensuring correctness of the genotyping results were proposed.
      Title: [Identification of a novel Y-SNP in the USP9Y gene and its impact on genotyping alleles of the M46 locus].
    4. Findings indicated that AZF microdeletion and chromosomal abnormality should be important causes of male infertility.
      Title: [A genetic study on microdeletion of azoospermia factor region on Y chromosome of azoospermia and oligozoospermia patients].
    5. detection of mrna in azooermic men
      Title: 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.
    6. Frequency of AZF microdeletions in peripheral leukocytes and testicular cells in Chinese men with idiopathic infertility.
      Title: AZF gene expression analysis in peripheral leukocytes and testicular cells from idiopathic infertility.
    7. rare Y chromosome missense mutation in exon 25 of human USP9Y revealed by pyrosequencing
      Title: A rare Y chromosome missense mutation in exon 25 of human USP9Y revealed by pyrosequencing.
    8. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants of Y chromosome are associated with a protective lipid profile in black men.
    9. Selection is acting to maintain the amino acid sequence of both the X and the Y-linked genes.
      Title: 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.
    10. results suggest that, through de-ubiquitination, ubiquitin specific protease 9(USP9Y) may stabilize a specific target protein that is important for male germ cell development
      Title: Ubiquitin-specific protease activity of USP9Y, a male infertility gene on the Y chromosome.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Spermatogenic failure, Y-linked, 2
    MedGen: C1839071 OMIM: 415000 GeneReviews: Y Chromosome Infertility
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ33043

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables co-SMAD binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables cysteine-type deubiquitinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables cysteine-type deubiquitinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables cysteine-type peptidase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in BMP signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cell migration IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein deubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein deubiquitination ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in spermatogenesis TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in transforming growth factor beta receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    probable ubiquitin carboxyl-terminal hydrolase FAF-Y
    Names
    azoospermia factor A
    deubiquitinating enzyme FAF-Y
    fat facets protein-related, Y-linked
    ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila)
    ubiquitin thioesterase FAF-Y
    ubiquitin thiolesterase FAF-Y
    ubiquitin-specific processing protease FAF-Y
    ubiquitin-specific protease 9, Y chromosome
    NP_004645.2
    XP_047298727.1
    XP_047298728.1
    XP_054184352.1
    XP_054184353.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008311.2 RefSeqGene

      Range
      5002..164610
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004654.4 → NP_004645.2  probable ubiquitin carboxyl-terminal hydrolase FAF-Y

      See identical proteins and their annotated locations for NP_004645.2

      Status: REVIEWED

      Source sequence(s)
      AF000986, BI754571, CK823170, Y13618
      Consensus CDS
      CCDS14781.1
      UniProtKB/Swiss-Prot
      O00507, O14601
      Related
      ENSP00000342812.3, ENST00000338981.7
      Conserved Domains (2) summary
      cd02659
      Location:1557 → 1960
      peptidase_C19C; A subfamily of Peptidase C19. Peptidase C19 contains ubiquitinyl hydrolases. They are intracellular peptidases that remove ubiquitin molecules from polyubiquinated peptides by cleavage of isopeptide bonds. They hydrolyze bonds involving the carboxyl ...
      pfam00443
      Location:1559 → 1955
      UCH; Ubiquitin carboxyl-terminal hydrolase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000024.10 Reference GRCh38.p14 Primary Assembly

      Range
      12701231..12860839
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047442772.1 → XP_047298728.1  probable ubiquitin carboxyl-terminal hydrolase FAF-Y isoform X2

      UniProtKB/Swiss-Prot
      O00507, O14601
      Related
      ENSP00000498372.1, ENST00000651177.1

    2. XM_047442771.1 → XP_047298727.1  probable ubiquitin carboxyl-terminal hydrolase FAF-Y isoform X1

      Related
      ENST00000426564.6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060948.1 Alternate T2T-CHM13v2.0

      Range
      13609504..13769113
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054328378.1 → XP_054184353.1  probable ubiquitin carboxyl-terminal hydrolase FAF-Y isoform X2

      UniProtKB/Swiss-Prot
      O00507, O14601

    2. XM_054328377.1 → XP_054184352.1  probable ubiquitin carboxyl-terminal hydrolase FAF-Y isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O00507.2 GenPept UniProtKB/Swiss-Prot:O00507

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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