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

Gene ID: 8287, updated on 3-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
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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)

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 
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

Gene LinkOut

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