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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

USP9Y Gene

protein-coding GIFtS: 60
GCID: GC0YP014813

ubiquitin specific peptidase 9, Y-linked

(Previous names: ubiquitin specific peptidase 9, Y-linked (fat facets-like,...)

Explore 17 diseases affiliated with
USP9Y via

MalaCards

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Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Ubiquitin Specific Peptidase 9, Y-Linked¹ ²		Ubiquitin-Specific-Processing Protease FAF-Y² ³
DFFRY¹ ² ³ ⁵		SPGFY2²
Ubiquitin Specific Peptidase 9, Y-Linked (Fat Facets-Like, Drosophila)¹ ²		Probable Ubiquitin Carboxyl-Terminal Hydrolase FAF-Y²
Deubiquitinating Enzyme FAF-Y² ³		Ubiquitin Thiolesterase FAF-Y²
Fat Facets Protein-Related, Y-Linked² ³		Ubiquitin-Specific Processing Protease FAF-Y²
Ubiquitin Thioesterase FAF-Y² ³		EC 3.4.19.12³
Ubiquitin-Specific Protease 9, Y Chromosome² ³		EC 3.1.2.15⁸

External Ids:	HGNC: 12633¹	Entrez Gene: 8287²	Ensembl: ENSG00000114374⁷	OMIM: 400005⁵	UniProtKB: O00507³

Export aliases for USP9Y gene to outside databases

Previous GC identifers: GC0YP014123 GC0YP013821 GC0YP013251 GC0YP009466

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for USP9Y:

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)

UniProtKB/Swiss-Prot: USP9Y_HUMAN, O00507

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 role 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

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000024.9 NT_011875.12

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the USP9Y gene promoter:
Bach1 GR PPAR-alpha SRY Spz1 GR-beta GR-alpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: USP9Y promoter sequence

Search SABiosciences Chromatin IP Primers for USP9Y

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat USP9Y

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Yq11.2 Ensembl cytogenetic band: Yq11.21 HGNC cytogenetic band: Yq11.2

USP9Y Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
USP9Y gene location

GeneLoc information about chromosome Y GeneLoc Exon Structure

GeneLoc location for GC0YP014813: view genomic region (about GC identifiers)

Start:	14,813,160 bp from pter	End:	14,972,768 bp from pter
Size:	159,609 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: USP9Y_HUMAN, O00507 (See protein sequence)

Recommended Name: Probable ubiquitin carboxyl-terminal hydrolase FAF-Y

Size: 2555 amino acids; 291077 Da

Subunit: Interacts with SMAD4 (By similarity)

Subcellular location: Cytoplasm (By similarity)

Secondary accessions: O14601

Alternative splicing: 2 isoforms: O00507-1 O00507-2 (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for USP9Y: NX_O00507

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O00507

4/16 DME Specific Peptides for USP9Y (O00507) (see all 16)

INKDFFE

PFGQCYE

HYQKRAYQ

IQQLYMIP

USP9Y Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_004645.2

ENSEMBL proteins:

ENSP00000342812 ENSP00000406876

Human Recombinant Protein Products for USP9Y:

	Browse Purified and Recombinant Proteins at EMD Millipore
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	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for USP9Y

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	ISS	--

USP9Y for ontologies About GeneDecksing

USP9Y Antibody Products:

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	Uscn ELISAs and CLIAs for USP9Y

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

USP9Y for domains About GeneDecksing

2 InterPro domains/families:

IPR001394 Peptidase_C19

IPR018200 Pept_C19ubi-hydrolase_C_CS

Graphical View of Domain Structure for InterPro Entry O00507

ProtoNet protein and cluster: O00507

2 Blocks protein families:

IPB001394 Ubiquitin thiolesterase

IPB001464 Annexin

UniProtKB/Swiss-Prot: USP9Y_HUMAN, O00507

Similarity: Belongs to the peptidase C19 family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: USP9Y_HUMAN, O00507

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 role 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)

Catalytic activity: 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)

Genatlas biochemistry entry for USP9Y:

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

Enzyme Numbers (IUBMB): EC 3.1.2.15² EC 3.4.19.12¹

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004221	ubiquitin thiolesterase activity	IEA	--
GO:0004843	ubiquitin-specific protease activity	TAS	9384609
GO:0008234	cysteine-type peptidase activity	TAS	8922996
GO:0070410	co-SMAD binding	ISS	--

USP9Y for ontologies About GeneDecksing

Phenotypes:
3 GenomeRNAi human phenotypes for USP9Y:

Increased cell death HMECs cel

Synthetic lethal with Ras

Synthetic lethal with c-Myc af

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for USP9Y

miRNA Products:		OriGene 3'-UTR Clone: USP9Y Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat USP9Y
		8/26 QIAGEN miScript miRNA Assays for microRNAs that regulate USP9Y (see all 26):
		hsa-miR-4291 hsa-miR-181c hsa-miR-520d-5p hsa-miR-575 hsa-miR-3653 hsa-miR-1257 hsa-miR-132 hsa-miR-3692

		SwitchGear 3'UTR luciferase reporter plasmid: USP9Y 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for USP9Y (see all 4) OriGene shRNA RFP: USP9Y OriGene siRNA: USP9Y
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		GenScript: all cDNA clones in your preferred vector: USP9Y (NM_004654)
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for USP9Y

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Ubiquitin-Proteasome Dependent Proteolysis

Ubiquitin-Proteasome Dependent Proteolysis

1.00

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for USP9Y

Ubiquitin-Proteasome Dependent Proteolysis

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for USP9Y

STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

5/40 Interacting proteins for USP9Y (O00507^{2, 3} ENSP00000342812⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 40)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SIRT1	Q96EB6³, ENSP00000212015⁴	I2D: score=2 STRING: ENSP00000212015
MAPT	P10636³, ENSP00000340820⁴	I2D: score=1 STRING: ENSP00000340820
PMS1	P54277³, ENSP00000406490⁴	I2D: score=1 STRING: ENSP00000406490
SHC1	P29353³, ENSP00000401303⁴	I2D: score=1 STRING: ENSP00000401303
RNF20	Q5VTR2², ENSP00000373772⁴	MINT-7230300 STRING: ENSP00000373772

About this table

Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006511	ubiquitin-dependent protein catabolic process	IEA	--
GO:0007179	transforming growth factor beta receptor signaling pathway	ISS	--
GO:0007283	spermatogenesis	TAS	9384609
GO:0016579	protein deubiquitination	ISS	--
GO:0030509	BMP signaling pathway	ISS	--

USP9Y for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for USP9Y

1 HMDB Compound for USP9Y About this table

Compound	Synonyms	CAS #	PubMed Ids
Water	Dihydrogen oxide (see all 2)	7732-18-5	--

Search CenterWatch for drugs/clinical trials and news about USP9Y

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for USP9Y gene:

NM_004654.3

Unigene Cluster for USP9Y:

Ubiquitin specific peptidase 9, Y-linked

Hs.598540 [show with all ESTs]

Unigene Representative Sequence: NM_004654

5 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000338981(uc010nwt.1 uc004fst.1 uc010nwu.1) ENST00000426564

ENST00000471409 ENST00000493168 ENST00000453031

miRNA Products:		OriGene 3'-UTR Clone: USP9Y Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat USP9Y
		8/26 QIAGEN miScript miRNA Assays for microRNAs that regulate USP9Y (see all 26):
		hsa-miR-4291 hsa-miR-181c hsa-miR-520d-5p hsa-miR-575 hsa-miR-3653 hsa-miR-1257 hsa-miR-132 hsa-miR-3692

		SwitchGear 3'UTR luciferase reporter plasmid: USP9Y 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for USP9Y (see all 4) OriGene shRNA RFP: USP9Y OriGene siRNA: USP9Y
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat USP9Y
		Sirion Biotech Custom design and validation of potent shRNA sequences against USP9Y

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for USP9Y (see all 2) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for USP9Y OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: USP9Y (NM_004654)
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Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for USP9Y Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat USP9Y

Additional cDNA sequence:

AF000986.2 DQ151535.1 Y13618.1

9 DOTS entries:

DT.213877 DT.95216490 DT.100734324 DT.101964823 DT.100651432 DT.86841106 DT.92005439 DT.92452369

DT.40196882

24/88 AceView cDNA sequences (see all 88):

BQ002211 AI580306 CA394805 BQ101190 CK823171 BX098675 BE646319 BF592847

BQ934848 AA864609 H70731 Z21230 CA393062 NR_001545 N48507 AL045209

AF000986 AL080135 AK057605 AL138331 CD652485 Y13618 BQ448660 AI636079

GeneLoc Exon Structure

5/14 Alternative Splicing Database (ASD) splice patterns (SP) for USP9Y (see all 14) About this scheme

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:

ExUns:	22	^	23a	·	23b	^	24	^	25	^	26	^	27	^	28a	·	28b	·	28c	^	29a	·	29b	^	30a	·	30b
SP1:									-		-										-
SP2:
SP3:
SP4:
SP5:											-

ECgene alternative splicing isoforms for USP9Y

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

USP9Y expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AATGACAGTG

About this image
See USP9Y Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for USP9Y

SOURCE GeneReport for Unigene cluster: Hs.598540

UniProtKB/Swiss-Prot: USP9Y_HUMAN, O00507

Tissue specificity: Widely expressed in embryonic and adult tissues

SABiosciences Custom PCR Arrays for USP9Y

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for USP9Y

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for USP9Y gene from 5/18 species (see all 18) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	E1BWJ5_CHICK⁶	Ubiquitin carboxyl-terminal hydrolase	90(a)	1 → many	1(115667615-115739235)
lizard (Anolis carolinensis)	Reptilia	--	--	89(a)	1 → many	3(133970926-134041276)
zebrafish (Danio rerio)	Actinopterygii	usp9⁶	ubiquitin specific peptidase 9	84(a)	1 → many	9(34294638-34354348)
fruit fly (Drosophila melanogaster)	Insecta	faf³	protein deubiquitination ubiquitin-specific protease	46(a)		100D2 --
worm (Caenorhabditis elegans)	Secernentea	T24B8.7⁶	--	7(a)	possible ortholog	II(9042715-9053603)

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for USP9Y gene

USP24² USP18² USP41² USP48² USP40² USP7² USP47² USP34²

USP9X²

2 SIMAP similar genes for USP9Y using alignment to 3 protein entries: USP9Y_HUMAN (see all proteins):

USP9X USP24

USP9Y for paralogs About GeneDecksing

5/30 Pseudogenes.org Pseudogenes for USP9Y (see all 30)
PGOHUM00000233700 PGOHUM00000233758 PGOHUM00000233762 PGOHUM00000233769 PGOHUM00000233774

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr Y pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs9786522^1,2	C	--	14811240(+)	`tctggC/Gggatg`	1	--	us2k¹		1		WA	2
rs2032594^1,2	C	--	14813717(+)	`CAGTTT/CAAAGG`	1	--	ut5¹ ese³		3		MN NA	256
rs2032595^1,2	C,F	--	14813991(+)	`TGAGTT/CGCTAG`	1	--	int¹		3		NA CSA	73
rs13304395^1,2	C	--	14814539(+)	`TGAGGG/TTCCTT`	1	--	int¹		0	--	--	--	--
rs13304396^1,2	C	--	14814540(+)	`GAGGTG/TCCTTG`	1	--	int¹		0	--	--	--	--
rs13304421^1,2	C	--	14814550(+)	`GAGGGG/TATATT`	1	--	int¹		0	--	--	--	--
rs13305008^1,2	C	--	14814602(+)	`AGTGTG/TGAATC`	1	--	int¹		0	--	--	--	--
rs13305868^1,2	C	--	14817309(+)	`TGTCTG/TGGGGA`	1	--	int¹		0	--	--	--	--
rs58172081^1,2	C	--	14825719(+)	`TGTTTG/TTTTTT`	1	--	int¹		1		WA	2
rs11799107^1,2	C,F,A,H	--	14825721(+)	`TTTTTG/TTTTTT`	1	--	int¹ trp³		3		NA	6

HapMap Linkage Disequilibrium report for USP9Y (14813160 - 14972768 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for USP9Y: --
Human Gene Mutation Database (HGMD): USP9Y

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

USP9Y for disorders           About GeneDecksing

OMIM gene information: 400005
OMIM disorders: 415000
UniProtKB/Swiss-Prot: USP9Y_HUMAN, O00507

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)

Defects in USP9Y may be a cause of spermatogenic failure Y-linked type 2 (SPGFY2) [MIM:415000]. It is a

disorder resulting in the absence (azoospermia) or reduction (oligozoospermia) of sperm in the semen, leading to male

infertility. Note=The role of USP9Y in spermatogenesis failure is uncertain. 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)

17 diseases for USP9Y: About MalaCards

sertoli cell-only syndrome y chromosome infertility x inactivation male infertility

infertility oligospermia klinefelter's syndrome azoospermia

varicocele cryptorchidism testicular cancer meningioma

prostate cancer breast cancer prostatitis malaria

spermatogenic failure

3 diseases from the University of Copenhagen DISEASES database for USP9Y:

Azoospermia Sertoli cell-only syndrome Oligospermia

5 Novoseek disease relationships for USP9Y gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
azoospermia	83.6	10	19246359 (2), 11097428 (1), 11869379 (1), 10581029 (1) (see all 5)
oligozoospermia	80.6	2	19246359 (1)
chromosome deletion	70.8	2	17296183 (1), 10402373 (1)
infertility male	69	2	10402373 (1), 11294825 (1)
infertility	45.2	6	19246359 (2), 16893908 (1)

GeneTests: USP9Y

Y Chromosome Infertility

Human Genome Epidemiology (HuGE) Navigator: USP9Y (10 documents)

Export disorders for USP9Y gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for USP9Y gene, integrated from 9 sources (see all 47):
(articles sorted by number of sources associating them with USP9Y)

Utopia: connect your pdf to the dynamic
world of online information

Spermatogenesis in a man with complete deletion of US P9Y. (PubMed id 19246359)^{1, 2, 3, 9} Luddi A....Piomboni P. (2009)
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. (PubMed id 9384609)^{1, 2, 3, 9} Brown G.M.... Affara N.A. (1998)
The Drosophila developmental gene fat facets has a human homologue in Xp11.4 which escapes X-inactivation and has related sequences on Yq11.2. (PubMed id 8922996)^{1, 2, 3} Jones M.H.... Affara N.A. (1996)
An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y. (PubMed id 10581029)^{1, 2, 9} Sun C....Page D.C. (1999)
Functional coherence of the human Y chromosome. (PubMed id 9381176)^{1, 2} Lahn B.T. and Page D.C. (1997)
Natural transmission of USP9Y gene mutations: a new perspective on the role of AZFa genes in male fertility. (PubMed id 16893908)^{1, 9} Krausz C....Forti G. (2006)
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. (PubMed id 12925892)^{1, 9} Hall N.M....Affara N.A. (2003)
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. (PubMed id 11869379)^{1, 9} Friel A....Maher M. (2002)
AZF gene expression analysis in peripheral leukocytes and testicular cells from idiopathic infertility. (PubMed id 18357961)^{1, 9} Song N.H....Wu H.F. (2007)
Genetic variants of y chromosome are associated with a protective lipid profile in black men. (PubMed id 18511697)^{1, 9} Russo P....Cappuccio F.P. (2008)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 8287	HGNC: 12633	AceView: USP9YandTTTY15	Ensembl:ENSG00000114374	euGenes: HUgn8287
ECgene: USP9Y	H-InvDB: USP9Y

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for USP9Y	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/USP9Y

Intellectual Property for USP9Y gene
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Patent Information for USP9Y gene:
Search GeneIP for patents involving USP9Y

GeneCards and IP:
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USP9Y Gene

ubiquitin specific peptidase 9, Y-linked

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USP9Y Gene

ubiquitin specific peptidase 9, Y-linked

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