Gene Gene information from NCBI Gene database.
Entrez ID 9101
Gene name Ubiquitin specific peptidase 8
Gene symbol USP8
Synonyms (NCBI Gene)
HumORF8PITA4SPG59UBPY
Chromosome 15
Chromosome location 15q21.2
Summary 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
SNPs SNP information provided by dbSNP.
6
SNP ID Visualize variation Clinical significance Consequence
rs672601306 TCC>- Pathogenic Inframe deletion, coding sequence variant
rs672601307 T>C Pathogenic Coding sequence variant, missense variant
rs672601308 C>G Pathogenic Coding sequence variant, missense variant
rs672601309 T>G Pathogenic Coding sequence variant, missense variant
rs672601310 A>G,T Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
174
miRTarBase ID miRNA Experiments Reference
MIRT051165 hsa-miR-16-5p CLASH 23622248
MIRT047051 hsa-miR-183-5p CLASH 23622248
MIRT046085 hsa-miR-125b-5p CLASH 23622248
MIRT044017 hsa-miR-374a-5p CLASH 23622248
MIRT697725 hsa-miR-212-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
53
GO ID Ontology Definition Evidence Reference
GO:0000281 Process Mitotic cytokinesis IMP 18388320
GO:0002080 Component Acrosomal membrane IEA
GO:0004197 Function Cysteine-type endopeptidase activity TAS 9827704
GO:0004843 Function Cysteine-type deubiquitinase activity IBA
GO:0004843 Function Cysteine-type deubiquitinase activity IDA 16520378, 18388320, 18728397, 27444016
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603158 12631 ENSG00000138592
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P40818
Protein 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)
Protein function Hydrolase that can remove conjugated ubiquitin from proteins and therefore plays an important regulatory role at the level of protein turnover by preventing degradation. Converts both 'Lys-48' an 'Lys-63'-linked ubiquitin chains. Catalytic activ
PDB 1WHB , 2A9U , 2GFO , 2GWF , 3N3K , 6F09 , 8ADM , 8XPN , 8Y9A
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08969 USP8_dimer 6 116 USP8 dimerisation domain Domain
PF00581 Rhodanese 184 307 Rhodanese-like domain Domain
PF00443 UCH 777 1106 Ubiquitin carboxyl-terminal hydrolase Family
Sequence
MPAVASVPKELYLSSSLKDLNKKTEVKPEKISTKSYVHSALKIFKTAEECRLDRDEERAY
VLYMKYVTVYNLIKKRPDFKQQQDYFHSILGPGNIKKAVEEAERLSESLKLRYEEA
EVRK
KLEEKDRQEEAQRLQQKRQETGREDGGTLAKGSLENVLDSKDKTQKSNGEKNEKCETKEK
GAITAKELYTMMTDKNISLIIMDARRMQDYQDSCILHSLSVPEEAISPGVTASWIEAHLP
DDSKDTWKKRGNVEYVVLLDWFSSAKDLQIGTTLRSLKDALFKWESKTVLRNEPLVLEGG
YENWLLC
YPQYTTNAKVTPPPRRQNEEVSISLDFTYPSLEESIPSKPAAQTPPASIEVDE
NIELISGQNERMGPLNISTPVEPVAASKSDVSPIIQPVPSIKNVPQIDRTKKPAVKLPEE
HRIKSESTNHEQQSPQSGKVIPDRSTKPVVFSPTLMLTDEEKARIHAETALLMEKNKQEK
ELRERQQEEQKEKLRKEEQEQKAKKKQEAEENEITEKQQKAKEEMEKKESEQAKKEDKET
SAKRGKEITGVKRQSKSEHETSDAKKSVEDRGKRCPTPEIQKKSTGDVPHTSVTGDSGSG
KPFKIKGQPESGILRTGTFREDTDDTERNKAQREPLTRARSEEMGRIVPGLPSGWAKFLD
PITGTFRYYHSPTNTVHMYPPEMAPSSAPPSTPPTHKAKPQIPAERDREPSKLKRSYSSP
DITQAIQEEEKRKPTVTPTVNRENKPTCYPKAEISRLSASQIRNLNPVFGGSGPALTGLR
NLGNTCYMNSILQCLCNAPHLADYFNRNCYQDDINRSNLLGHKGEVAEEFGIIMKALWTG
QYRYISPKDFKITIGKINDQFAGYSQQDSQELLLFLMDGLHEDLNKADNRKRYKEENNDH
LDDFKAAEHAWQKHKQLNESIIVALFQGQFKSTVQCLTCHKKSRTFEAFMYLSLPLASTS
KCTLQDCLRLFSKEEKLTDNNRFYCSHCRARRDSLKKIEIWKLPPVLLVHLKRFSYDGRW
KQKLQTSVDFPLENLDLSQYVIGPKNNLKKYNLFSVSNHYGGLDGGHYTAYCKNAARQRW
FKFDDHEVSDISVSSVKSSAAYILFY
TSLGPRVTDVAT
Sequence length 1118
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Mitophagy - animal
Endocytosis
Cushing syndrome
  Downregulation of ERBB2:ERBB3 signaling
Regulation of FZD by ubiquitination
Ub-specific processing proteases
Negative regulation of MET activity
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
147
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Pituitary dependent hypercortisolism Pathogenic rs672601307, rs672601308, rs672601306, rs672601311 RCV000149417
RCV000149418
RCV000149416
RCV000149420
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
- no classification for the single variant rs672601309, rs672601310 -
Autosomal recessive spastic paraplegia type 59 Conflicting classifications of pathogenicity rs148244041 RCV004765340
Hereditary spastic paraplegia Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity rs2051600642, rs762795803, rs1359249352, rs2141320965, rs1196856326, rs745444234, rs11638390, rs755591528, rs937524145, rs775130274, rs755050919, rs768167279, rs2141316371, rs1288098442, rs772655890
View all (115 more)
RCV001341214
RCV001348238
RCV001370618
RCV001415033
RCV001421989
RCV001497087
RCV001522628
RCV002003200
RCV001981784
RCV002004595
RCV001894769
RCV001926892
RCV001993947
RCV001978612
RCV001874863
RCV002013869
RCV001934338
RCV001889072
RCV001880873
RCV001875523
RCV001883586
RCV002027187
RCV002136910
RCV002135181
RCV002131003
RCV002124007
RCV002132490
RCV002117175
RCV002122260
RCV002118626
RCV002218779
RCV002105103
RCV002071817
RCV002160279
RCV002108514
RCV002132239
RCV002132358
RCV002139107
RCV003067338
RCV003063636
RCV003081208
RCV002581951
RCV002587949
RCV003122069
RCV002632108
RCV002640037
RCV002725829
RCV002742011
RCV002791222
RCV002843701
RCV002867115
RCV002926647
RCV002927408
RCV002933918
RCV002971231
RCV002952985
RCV002944106
RCV003057405
RCV003040732
RCV003534142
RCV003534178
RCV003534202
RCV003534228
RCV003534288
RCV003534235
RCV003531532
RCV003645993
RCV003646031
RCV003646013
RCV003646122
RCV003646279
RCV003646428
RCV003646438
RCV003646447
RCV003646604
RCV003646635
RCV003646789
RCV003646830
RCV003646845
RCV003646943
RCV003647084
RCV003647101
RCV003824106
RCV003842531
RCV003876093
RCV000532955
RCV000536150
RCV000559198
RCV000535635
RCV000542854
RCV000550889
RCV000557319
RCV000557543
RCV000633120
RCV000633121
RCV000633122
RCV000633119
RCV000633124
RCV000633123
RCV000633125
RCV000689968
RCV000700781
RCV000691735
RCV000798738
RCV000807610
RCV000815035
RCV000875327
RCV000874746
RCV000876098
RCV002064746
RCV001517106
RCV000872191
RCV000875024
RCV000871151
RCV000874042
RCV000876245
RCV000874525
RCV002548235
RCV000972040
RCV005092648
RCV000897089
RCV002548265
RCV005092919
RCV001431368
RCV001454764
RCV001069592
RCV001215011
RCV001205749
RCV001207175
RCV001213502
RCV001226138
RCV001246142
RCV001294286
USP8-related disorder Uncertain significance; Benign; Likely benign rs574030216, rs148200969, rs115970610, rs150245386, rs192977674, rs370876235 RCV003399819
RCV003901267
RCV003915496
RCV003955736
RCV003908313
RCV003942989
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
ACTH Secreting Pituitary Adenoma Associate 25675982, 26701869, 28487882, 30093687, 31162547, 31222332, 31280266, 32652004, 34061962, 40544420
Adenocarcinoma Stimulate 28544031
Adenocarcinoma in Situ Associate 28544031
Adenocarcinoma of Lung Associate 28544031
Adenoma Associate 25675982, 31162547, 31280266, 39684405, 39684597
Adrenocortical Adenoma Associate 26701869
Alzheimer Disease Associate 40382655
Azoospermia Associate 28975488
Breast Neoplasms Associate 29626091, 31527799, 35361778, 35811497
Carcinoma Hepatocellular Associate 37311739