• Gene id: 9101

Gene Summary

• Gene Symbol: USP8   Gene   UCSC   Ensembl
• Aliases: HumORF8, PITA4, SPG59, UBPY
• Gene name: ubiquitin specific peptidase 8
• Alternate names: ubiquitin carboxyl-terminal hydrolase 8, deubiquitinating enzyme 8, ubiquitin isopeptidase Y, ubiquitin thiolesterase 8, ubiquitin-specific-processing protease 8,
• Gene location: 15q21.2 (50424358: 50501082)     Exons: 23     NC_000015.10
• Gene summary(Entrez): This gene encodes a protein that belongs to the ubiquitin-specific processing protease family of proteins. The encoded protein is thought to regulate the morphology of the endosome by ubiquitination of proteins on this organelle and is involved in cargo s
• OMIM: 603158

SNPs

rs724078

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.29521271G>A
NC_000006.11   g.29489048G>A
NT_113891.3   g.1007734G>A
NT_113891.2   g.1007840G>A
NT_167248.2   g.786742A>G
NT_167248.1   g.792338A>G
NT_167245.2   g.786798G>A
NT_167245.1   g.792383G>A
NT_167249.2   g.830287G>A
NT_167249.1   g.829585G>A
NT  

rs7174015

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000015.10   g.50424871G>A
NC_000015.10   g.50424871G>T
NC_000015.9   g.50717068G>A
NC_000015.9   g.50717068G>T
NG_047101.1   g.5495G>A
NG_047101.1   g.5495G>T|SEQ=[G/A/T]|GENE=USP8

rs2241769

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000015.10   g.50424436G>A
NC_000015.10   g.50424436G>C
NC_000015.9   g.50716633G>A
NC_000015.9   g.50716633G>C
NG_047101.1   g.5060G>A
NG_047101.1   g.5060G>C
NM_001128610.2   c.-284G>A
NM_001128610.2   c.-284G>C
NM_001128610.3   c.-284G>A
NM_001128610.3   c.-284G>C
  

rs3743044

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000015.10   g.50481590A>G
NC_000015.9   g.50773787A>G
NG_047101.1   g.62214A>G
NM_001128610.2   c.1328A>G
NM_001128610.3   c.1328A>G
NM_001128610.1   c.1328A>G
NM_005154.5   c.1328A>G
NM_005154.4   c.1328A>G
NM_005154.3   c.1328A>G
XM_006720761.3   c.1328A>G
XM_00672  

Protein Summary

• Protein general information: P40818  
  • Name: Ubiquitin carboxyl terminal hydrolase 8 (EC 3.4.19.12) (Deubiquitinating enzyme 8) (Ubiquitin isopeptidase Y) (hUBPy) (Ubiquitin thioesterase 8) (Ubiquitin specific processing protease 8)
  • Length: 1118  
  • Mass: 127,523
• Sequence:

  MPAVASVPKELYLSSSLKDLNKKTEVKPEKISTKSYVHSALKIFKTAEECRLDRDEERAYVLYMKYVTVYNLIKK
  RPDFKQQQDYFHSILGPGNIKKAVEEAERLSESLKLRYEEAEVRKKLEEKDRQEEAQRLQQKRQETGREDGGTLA
  KGSLENVLDSKDKTQKSNGEKNEKCETKEKGAITAKELYTMMTDKNISLIIMDARRMQDYQDSCILHSLSVPEEA
  ISPGVTASWIEAHLPDDSKDTWKKRGNVEYVVLLDWFSSAKDLQIGTTLRSLKDALFKWESKTVLRNEPLVLEGG
  YENWLLCYPQYTTNAKVTPPPRRQNEEVSISLDFTYPSLEESIPSKPAAQTPPASIEVDENIELISGQNERMGPL
  NISTPVEPVAASKSDVSPIIQPVPSIKNVPQIDRTKKPAVKLPEEHRIKSESTNHEQQSPQSGKVIPDRSTKPVV
  FSPTLMLTDEEKARIHAETALLMEKNKQEKELRERQQEEQKEKLRKEEQEQKAKKKQEAEENEITEKQQKAKEEM
  EKKESEQAKKEDKETSAKRGKEITGVKRQSKSEHETSDAKKSVEDRGKRCPTPEIQKKSTGDVPHTSVTGDSGSG
  KPFKIKGQPESGILRTGTFREDTDDTERNKAQREPLTRARSEEMGRIVPGLPSGWAKFLDPITGTFRYYHSPTNT
  VHMYPPEMAPSSAPPSTPPTHKAKPQIPAERDREPSKLKRSYSSPDITQAIQEEEKRKPTVTPTVNRENKPTCYP
  KAEISRLSASQIRNLNPVFGGSGPALTGLRNLGNTCYMNSILQCLCNAPHLADYFNRNCYQDDINRSNLLGHKGE
  VAEEFGIIMKALWTGQYRYISPKDFKITIGKINDQFAGYSQQDSQELLLFLMDGLHEDLNKADNRKRYKEENNDH
  LDDFKAAEHAWQKHKQLNESIIVALFQGQFKSTVQCLTCHKKSRTFEAFMYLSLPLASTSKCTLQDCLRLFSKEE
  KLTDNNRFYCSHCRARRDSLKKIEIWKLPPVLLVHLKRFSYDGRWKQKLQTSVDFPLENLDLSQYVIGPKNNLKK
  YNLFSVSNHYGGLDGGHYTAYCKNAARQRWFKFDDHEVSDISVSSVKSSAAYILFYTSLGPRVTDVAT

• Structural information:
  • Protein Domains: MIT (33-116)
    Rhodanese. (195-313)
    USP. (777-1109)
  • Interpro: IPR001394  IPR001763  IPR036873  IPR015063  IPR018200   IPR028889  
  • Prosite: PS50206 PS00972 PS00973 PS50235
  • PDB: 1WHB 2A9U 2GFO 2GWF 3N3K
  • PDBsum: 1WHB 2A9U 2GFO 2GWF 3N3K
  • DIP: 40365
  • STRING: ENSP00000302239
• Other Databases: GeneCards:  USP8  Malacards:  USP8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000281	mitotic cytokinesis	IMP	biological process
GO:0004197	cysteine-type endopeptidase activity	TAS	molecular function
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IDA	molecular function
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IDA	molecular function
GO:0004843	thiol-dependent ubiquitin-specific protease activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005769	early endosome	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006511	ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0007032	endosome organization	IMP	biological process
GO:0008283	cell proliferation	TAS	biological process
GO:0016579	protein deubiquitination	IMP	biological process
GO:0017124	SH3 domain binding	IEA	molecular function
GO:0019897	extrinsic component of plasma membrane	IDA	cellular component
GO:0030496	midbody	IDA	cellular component
GO:0031313	extrinsic component of endosome membrane	IBA	cellular component
GO:0038128	ERBB2 signaling pathway	TAS	biological process
GO:0070536	protein K63-linked deubiquitination	IDA	biological process
GO:0071108	protein K48-linked deubiquitination	IDA	biological process
GO:0000281	mitotic cytokinesis	IMP	biological process
GO:0004197	cysteine-type endopeptidase activity	TAS	molecular function
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IDA	molecular function
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IDA	molecular function
GO:0004843	thiol-dependent ubiquitin-specific protease activity	TAS	molecular function
GO:0004843	thiol-dependent ubiquitin-specific protease activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0005769	early endosome	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0006511	ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0007032	endosome organization	IMP	biological process
GO:0007049	cell cycle	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0008234	cysteine-type peptidase activity	IEA	molecular function
GO:0008283	cell proliferation	TAS	biological process
GO:0010008	endosome membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016579	protein deubiquitination	IEA	biological process
GO:0016579	protein deubiquitination	IMP	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0017124	SH3 domain binding	IEA	molecular function
GO:0019897	extrinsic component of plasma membrane	IDA	cellular component
GO:0030496	midbody	IDA	cellular component
GO:0031313	extrinsic component of endosome membrane	IBA	cellular component
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	IEA	molecular function
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	IEA	molecular function
GO:0038128	ERBB2 signaling pathway	TAS	biological process
GO:0070536	protein K63-linked deubiquitination	IDA	biological process
GO:0071108	protein K48-linked deubiquitination	IDA	biological process
GO:0000281	mitotic cytokinesis	IMP	biological process
GO:0004197	cysteine-type endopeptidase activity	TAS	molecular function
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IDA	molecular function
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IDA	molecular function
GO:0004843	thiol-dependent ubiquitin-specific protease activity	TAS	molecular function
GO:0004843	thiol-dependent ubiquitin-specific protease activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005769	early endosome	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0007032	endosome organization	IMP	biological process
GO:0008283	cell proliferation	TAS	biological process
GO:0016579	protein deubiquitination	IMP	biological process
GO:0019897	extrinsic component of plasma membrane	IDA	cellular component
GO:0030496	midbody	IDA	cellular component
GO:0031313	extrinsic component of endosome membrane	IBA	cellular component
GO:0038128	ERBB2 signaling pathway	TAS	biological process
GO:0070536	protein K63-linked deubiquitination	IDA	biological process
GO:0071108	protein K48-linked deubiquitination	IDA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis
hsa04137	Mitophagy - animal
hsa04934	Cushing syndrome

Diseases

Associated diseases	References
Male factor infertility	MIK: 25863102
Oligozoospermia	MIK: 25863102
Azoospermia	MIK: 25863102
Male infertility	MIK: 25908655
Oligozoospermia	MIK: 25863102
Azoospermia	MIK: 25863102
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25908656	Male infertility	rs7867029, rs7174015, rs12870438 and rs724078	Japanes e	917 (791 fertile men, 76 patients with azoospermia, 50 patients with oligozoospermia)	Male infertility	PSAT USP8 EPSTI1 MAS1L UBD
25908655	Male infertility	rs7867029, rs7174015, rs12870438 and rs724078	Japanes e	917 (791 fertile men, 76 patients with azoospermia, 50 patients with oligozoospermia)	Male infertility	PSAT USP8 EPSTI1 MAS1L UBD
25863102	Male infertility, Oligozoospermia, Azoospermia	rs2241769, rs11857513, rs7174015, rs3743044, CAAG haplotype	Han Chi nese	465 (316 infertile males (72 severe oligozoospermic (SO) cases, 244 non-obstructive azoospermic (NOA) cases), 149 fertile males	Male infertility	USP8
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881