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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
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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

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