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

    Gene ID: 8287, updated on 26-Nov-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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    See USP9Y in Genome Data Viewer
    Location:
    Yq11.221
    Exon count:
    48
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) Y NC_000024.10 (12701231..12860839)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) Y NC_060948.1 (13609504..13769113)
    RS_2024_09 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. [Relationship between follicle stimulating hormone and AZF microdeletion on Y chromosome in patients with azoospermia or severe oligozoospermia]. Wang XQ, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2011 Oct. PMID 21983735
    2. [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
    3. Natural transmission of USP9Y gene mutations: a new perspective on the role of AZFa genes in male fertility. Krausz C, et al. Hum Mol Genet, 2006 Sep 15. PMID 16893908
    4. 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
    5. The b2/b3 subdeletion shows higher risk of spermatogenic failure and higher frequency of complete AZFc deletion than the gr/gr subdeletion in a Chinese population. Lu C, et al. Hum Mol Genet, 2009 Mar 15. PMID 19088127

    See all (76) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Y-chromosome haplogroups and Azoospermia Factor (AZF) analysis in Tunisian infertile male.
      Title: Y-chromosome haplogroups and Azoospermia Factor (AZF) analysis in Tunisian infertile male.
    2. AZF microdeletion affects semen parameters, sex hormone levels, and chromosome karyotypes in infertile men in Xinjiang.
      Title: AZF microdeletion affects semen parameters, sex hormone levels, and chromosome karyotypes in infertile men in Xinjiang.
    3. [Analysis of copy number variation in AZF region of Y chromosome in patients with spermatogenic failure].
      Title: [Analysis of copy number variation in AZF region of Y chromosome in patients with spermatogenic failure].
    4. High incidence of AZF duplications in clan-structured Iranian populations detected through Y chromosome sequencing read depth analysis.
      Title: High incidence of AZF duplications in clan-structured Iranian populations detected through Y chromosome sequencing read depth analysis.
    5. DDX3Y is likely the key spermatogenic factor in the AZFa region that contributes to human non-obstructive azoospermia.
      Title: DDX3Y is likely the key spermatogenic factor in the AZFa region that contributes to human non-obstructive azoospermia.
    6. AZF gene microdeletions in azoospermic-oligozoospermic males.
      Title: AZF gene microdeletions in azoospermic-oligozoospermic males.
    7. We investigated partial deletion of AZFc region and DAZ copy number in a population of Iranian infertile men and normozoospermic controls. Partial AZFc deletions were not significantly different between the infertile and normozoospermic men.
      Title: Analysis of partial azoospermia factor c deletion and DAZ copy number in azoospermia and severe oligozoospermia.
    8. AZFd deletions were found to be significant (P < 0.05) in male infertility and it may be associated with other types of AZF deletions.
      Title: Association of azoospermia factor region deletions in infertile male subjects among Malaysians.
    9. genetic association study in population in China: Data suggest b2/b3 partial deletions (both deletion-only and deletion-duplication) in AZFc (azoospermia factor c region) are associated with infertility due to spermatogenic impairment (azoospermia).
      Title: Gene copy number alterations in the azoospermia-associated AZFc region and their effect on spermatogenic impairment.
    10. male infertility is associated with partial AZFc duplications, but neither gr/gr nor b2/b3 deletions, suggesting that partial AZFc duplications rather than deletions are risk factors for male infertility in the Chinese-Yi population
      Title: Partial AZFc duplications not deletions are associated with male infertility in the Yi population of Yunnan Province, China.
    Submit: New GeneRIF Correction See all GeneRIFs (31)

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of protein stability IBA
    Inferred from Biological aspect of Ancestor
    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
    ubiquitin carboxyl-terminal hydrolase 9Y
    Names
    azoospermia factor A
    deubiquitinating enzyme FAF-Y
    fat facets protein-related, Y-linked
    probable ubiquitin carboxyl-terminal hydrolase FAF-Y
    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  ubiquitin carboxyl-terminal hydrolase 9Y

      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_2024_08

    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  ubiquitin carboxyl-terminal hydrolase 9Y isoform X2

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

    2. XM_047442771.1 → XP_047298727.1  ubiquitin carboxyl-terminal hydrolase 9Y 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  ubiquitin carboxyl-terminal hydrolase 9Y isoform X2

      UniProtKB/Swiss-Prot
      O00507, O14601

    2. XM_054328377.1 → XP_054184352.1  ubiquitin carboxyl-terminal hydrolase 9Y isoform X1

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

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