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Aliases for USP9Y Gene

Aliases for USP9Y Gene

  • Ubiquitin Specific Peptidase 9, Y-Linked 2 3 5
  • Ubiquitin Specific Peptidase 9, Y-Linked (Fat Facets-Like, Drosophila) 2 3
  • Ubiquitin-Specific Protease 9, Y Chromosome 3 4
  • Fat Facets Protein-Related, Y-Linked 3 4
  • Deubiquitinating Enzyme FAF-Y 3 4
  • Ubiquitin Thioesterase FAF-Y 3 4
  • DFFRY 3 4
  • Probable Ubiquitin Carboxyl-Terminal Hydrolase FAF-Y 3
  • Ubiquitin-Specific Processing Protease FAF-Y 3
  • Ubiquitin-Specific-Processing Protease FAF-Y 4
  • Fat Facets-Like Homolog (Drosophila) 2
  • Ubiquitin Thiolesterase FAF-Y 3
  • EC 3.4.19.12 4
  • EC 3.1.2.15 61
  • SPGFY2 3

External Ids for USP9Y Gene

Previous GeneCards Identifiers for USP9Y Gene

  • GC0YP014123
  • GC0YP013821
  • GC0YP013251
  • GC0YP014813
  • GC0YP009466

Summaries for USP9Y Gene

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. Among its related pathways are Ubiquitin-Proteasome Dependent Proteolysis. GO annotations related to this gene include binding and cysteine-type peptidase activity. An important paralog of this gene is USP9X.

UniProtKB/Swiss-Prot for USP9Y Gene

  • 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 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for USP9Y Gene

Genomics for USP9Y Gene

Regulatory Elements for USP9Y Gene

Enhancers for USP9Y Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0YF012700 0.5 ENCODE 0.8 -1.0 -1005 0.2 PIR35490 USP9Y
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around USP9Y on UCSC Golden Path with GeneCards custom track

Genomic Location for USP9Y Gene

Chromosome:
Y
Start:
12,701,231 bp from pter
End:
12,860,844 bp from pter
Size:
159,614 bases
Orientation:
Plus strand

Genomic View for USP9Y Gene

Genes around USP9Y on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
USP9Y Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for USP9Y Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for USP9Y Gene

Proteins for USP9Y Gene

  • Protein details for USP9Y Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00507-USP9Y_HUMAN
    Recommended name:
    Probable ubiquitin carboxyl-terminal hydrolase FAF-Y
    Protein Accession:
    O00507
    Secondary Accessions:
    • O14601

    Protein attributes for USP9Y Gene

    Size:
    2555 amino acids
    Molecular mass:
    291077 Da
    Quaternary structure:
    • Interacts with SMAD4.

    Alternative splice isoforms for USP9Y Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for USP9Y Gene

Selected DME Specific Peptides for USP9Y Gene

O00507:
  • HYQKRAYQ
  • PRWVVPVLP
  • IQQLYMIP
  • GLKNAGATCYMNSV
  • CAIKFNDYFEFPR
  • LLELIRRLAEDDK
  • YRRQKRWWNAY
  • FLLKDGQLWLCA
  • INKDFFE
  • PFGQCYE
  • KCFERFFKAVN
  • AQAGKHEAIVKNVHDLLAKLAWDF
  • GEPVNLREQ
  • FRLKMILRLLQ
  • DSLHQPQYVEKLEKI
  • KILDYSCSQ

Post-translational modifications for USP9Y Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for USP9Y Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for USP9Y Gene

Protein Domains for USP9Y Gene

Suggested Antigen Peptide Sequences for USP9Y Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O00507

UniProtKB/Swiss-Prot:

USP9Y_HUMAN :
  • Contains 1 USP domain.
  • Belongs to the peptidase C19 family.
Domain:
  • Contains 1 USP domain.
Family:
  • Belongs to the peptidase C19 family.
genes like me logo Genes that share domains with USP9Y: view

Function for USP9Y Gene

Molecular function for USP9Y Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot CatalyticActivity:
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).
UniProtKB/Swiss-Prot 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 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).

Enzyme Numbers (IUBMB) for USP9Y Gene

Gene Ontology (GO) - Molecular Function for USP9Y Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004843 thiol-dependent ubiquitin-specific protease activity TAS 9384609
GO:0008233 peptidase activity IEA --
GO:0008234 cysteine-type peptidase activity IEA,TAS 8922996
GO:0016787 hydrolase activity IEA --
GO:0036459 thiol-dependent ubiquitinyl hydrolase activity IEA --
genes like me logo Genes that share ontologies with USP9Y: view
genes like me logo Genes that share phenotypes with USP9Y: view

Human Phenotype Ontology for USP9Y Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for USP9Y Gene

Localization for USP9Y Gene

Subcellular locations from UniProtKB/Swiss-Prot for USP9Y Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for USP9Y Gene COMPARTMENTS Subcellular localization image for USP9Y gene
Compartment Confidence
plasma membrane 3
cytosol 2

Gene Ontology (GO) - Cellular Components for USP9Y Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS --
genes like me logo Genes that share ontologies with USP9Y: view

Pathways & Interactions for USP9Y Gene

genes like me logo Genes that share pathways with USP9Y: view

Pathways by source for USP9Y Gene

1 Qiagen pathway for USP9Y Gene

Gene Ontology (GO) - Biological Process for USP9Y Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0006511 ubiquitin-dependent protein catabolic process IEA --
GO:0007179 transforming growth factor beta receptor signaling pathway ISS --
GO:0007283 spermatogenesis TAS 9384609
GO:0016477 cell migration IBA --
genes like me logo Genes that share ontologies with USP9Y: view

No data available for SIGNOR curated interactions for USP9Y Gene

Drugs & Compounds for USP9Y Gene

(1) Drugs for USP9Y Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
genes like me logo Genes that share compounds with USP9Y: view

Transcripts for USP9Y Gene

Unigene Clusters for USP9Y Gene

Ubiquitin specific peptidase 9, Y-linked:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for USP9Y Gene

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:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12: -
SP13:
SP14:

ExUns: 22 ^ 23a · 23b ^ 24 ^ 25 ^ 26 ^ 27 ^ 28a · 28b · 28c ^ 29a · 29b ^ 30a · 30b
SP1: - - -
SP2:
SP3:
SP4:
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:

Relevant External Links for USP9Y Gene

GeneLoc Exon Structure for
USP9Y
ECgene alternative splicing isoforms for
USP9Y

Expression for USP9Y Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for USP9Y Gene

Protein differential expression in normal tissues from HIPED for USP9Y Gene

This gene is overexpressed in Heart (28.3), Brain (15.2), and Retina (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for USP9Y Gene



Protein tissue co-expression partners for USP9Y Gene

NURSA nuclear receptor signaling pathways regulating expression of USP9Y Gene:

USP9Y

SOURCE GeneReport for Unigene cluster for USP9Y Gene:

Hs.598540

mRNA Expression by UniProt/SwissProt for USP9Y Gene:

O00507-USP9Y_HUMAN
Tissue specificity: Widely expressed in embryonic and adult tissues.
genes like me logo Genes that share expression patterns with USP9Y: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for USP9Y Gene

Orthologs for USP9Y Gene

This gene was present in the common ancestor of animals.

Orthologs for USP9Y Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia USP9Y 35
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia USP9Y 34
  • 90.02 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 90 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 89 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Usp9y 34 16 35
  • 85.52 (n)
chicken
(Gallus gallus)
Aves -- 35
  • 90 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 89 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii usp9 35
  • 84 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta faf 36 35
  • 46 (a)
worm
(Caenorhabditis elegans)
Secernentea T24B8.7 35
  • 14 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5270 35
  • 54 (a)
OneToMany
Species where no ortholog for USP9Y was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for USP9Y Gene

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

Paralogs for USP9Y Gene

Paralogs for USP9Y Gene

(1) SIMAP similar genes for USP9Y Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with USP9Y: view

Variants for USP9Y Gene

Sequence variations from dbSNP and Humsavar for USP9Y Gene

SNP ID Clin Chr 0Y pos Sequence Context AA Info Type
rs111445760 -- 12,774,571(+) TAAGA(C/T)AGATC intron-variant
rs111506001 -- 12,818,381(+) GTTAA(A/G)GTTAG intron-variant
rs111547590 -- 12,848,432(+) CTATG(A/T)TGGTA intron-variant
rs111569776 -- 12,846,293(+) CTTAG(-/C)TTTTT intron-variant
rs111606782 -- 12,754,162(+) TATAT(A/G)CCAGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for USP9Y Gene

Variant ID Type Subtype PubMed ID
esv3559533 CNV deletion 23714750
esv3575090 CNV loss 25503493

Variation tolerance for USP9Y Gene

Gene Damage Index Score: 5.15; 69.42% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for USP9Y Gene

Human Gene Mutation Database (HGMD)
USP9Y
SNPedia medical, phenotypic, and genealogical associations of SNPs for
USP9Y

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for USP9Y Gene

Disorders for USP9Y Gene

MalaCards: The human disease database

(9) MalaCards diseases for USP9Y Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
spermatogenic failure, y-linked, 2
  • spermatogenic failure y-linked 2
y chromosome infertility
  • oligospermia
sertoli cell-only syndrome
  • del castillo syndrome
male infertility
  • infertility male
azoospermia
  • spermatogenic failure
- elite association - COSMIC cancer census association via MalaCards
Search USP9Y in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

USP9Y_HUMAN
  • 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). {ECO:0000269 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. {ECO:0000269 PubMed:10581029}. Note=The disease may be caused by mutations affecting the gene represented in this entry. The role of USP9Y in spermatogenesis failure is uncertain (PubMed:19246359). 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). {ECO:0000269 PubMed:10581029, ECO:0000269 PubMed:19246359}.

Relevant External Links for USP9Y

Genetic Association Database (GAD)
USP9Y
Human Genome Epidemiology (HuGE) Navigator
USP9Y
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
USP9Y
genes like me logo Genes that share disorders with USP9Y: view

No data available for Genatlas for USP9Y Gene

Publications for USP9Y Gene

  1. Spermatogenesis in a man with complete deletion of USP9Y. (PMID: 19246359) Luddi A. … Piomboni P. (N. Engl. J. Med. 2009) 2 3 4 22 64
  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. (PMID: 9384609) Brown G.M. … Affara N.A. (Hum. Mol. Genet. 1998) 2 3 4 22 64
  3. Genetic variants of Y chromosome are associated with a protective lipid profile in black men. (PMID: 18511697) Russo P. … Cappuccio F.P. (Arterioscler. Thromb. Vasc. Biol. 2008) 3 22 46 64
  4. An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y. (PMID: 10581029) Sun C. … Page D.C. (Nat. Genet. 1999) 3 4 22 64
  5. The Drosophila developmental gene fat facets has a human homologue in Xp11.4 which escapes X-inactivation and has related sequences on Yq11.2. (PMID: 8922996) Jones M.H. … Affara N.A. (Hum. Mol. Genet. 1996) 2 3 4 64

Products for USP9Y Gene

Sources for USP9Y Gene

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