ENSG00000138592


Homo sapiens

Features
Gene ID: ENSG00000138592
  
Biological name :USP8
  
Synonyms : P40818 / ubiquitin specific peptidase 8 / USP8
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 15
Strand: 1
Band: q21.2
Gene start: 50424380
Gene end: 50514419
  
Corresponding Affymetrix probe sets: 202745_at (Human Genome U133 Plus 2.0 Array)   229501_s_at (Human Genome U133 Plus 2.0 Array)   240226_at (Human Genome U133 Plus 2.0 Array)   240751_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000454059
Ensembl peptide - ENSP00000454003
Ensembl peptide - ENSP00000457345
Ensembl peptide - ENSP00000485810
Ensembl peptide - ENSP00000302239
Ensembl peptide - ENSP00000379721
Ensembl peptide - ENSP00000412682
Ensembl peptide - ENSP00000452950
Ensembl peptide - ENSP00000453206
Ensembl peptide - ENSP00000453320
Ensembl peptide - ENSP00000453427
Ensembl peptide - ENSP00000453460
NCBI entrez gene - 9101     See in Manteia.
OMIM - 603158
RefSeq - XM_017022722
RefSeq - NM_001128610
RefSeq - NM_001283049
RefSeq - NM_005154
RefSeq - XM_006720761
RefSeq - XM_006720762
RefSeq - XM_011522193
RefSeq - XM_017022718
RefSeq - XM_017022719
RefSeq - XM_017022720
RefSeq - XM_017022721
RefSeq Peptide - NP_005145
RefSeq Peptide - NP_001269978
RefSeq Peptide - NP_001122082
swissprot - H0YLH2
swissprot - H0YLS3
swissprot - H0YM17
swissprot - H0YM47
swissprot - H0YNL5
swissprot - P40818
swissprot - A0A024R5S4
swissprot - A0A075B720
swissprot - H0YKV1
Ensembl - ENSG00000138592
  
Related genetic diseases (OMIM): 219090 - Pituitary adenoma 4, ACTH-secreting, somatic, 219090
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 usp8ENSDARG00000063719Danio rerio
 USP8ENSGALG00000005894Gallus gallus
 Usp8ENSMUSG00000027363Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
USP2 / O75604 / ubiquitin specific peptidase 2ENSG0000003667217
USP21 / Q9UK80 / ubiquitin specific peptidase 21ENSG0000014325815
USP33 / Q8TEY7 / ubiquitin specific peptidase 33ENSG0000007725414
USP20 / Q9Y2K6 / ubiquitin specific peptidase 20ENSG0000013687813
USP45 / Q70EL2 / ubiquitin specific peptidase 45ENSG0000012355212
USP16 / Q9Y5T5 / ubiquitin specific peptidase 16ENSG0000015625612
USP50 / Q70EL3 / ubiquitin specific peptidase 50ENSG0000017023611


Protein motifs (from Interpro)
Interpro ID Name
 IPR001394  Peptidase C19, ubiquitin carboxyl-terminal hydrolase
 IPR001763  Rhodanese-like domain
 IPR015063  USP8 dimerisation domain
 IPR018200  Ubiquitin specific protease, conserved site
 IPR028889  Ubiquitin specific protease domain
 IPR036873  Rhodanese-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000281 mitotic cytokinesis IMP
 biological_processGO:0006508 proteolysis IEA
 biological_processGO:0006511 ubiquitin-dependent protein catabolic process IEA
 biological_processGO:0007032 endosome organization IMP
 biological_processGO:0007049 cell cycle IEA
 biological_processGO:0008283 cell proliferation TAS
 biological_processGO:0016579 protein deubiquitination IMP
 biological_processGO:0070536 protein K63-linked deubiquitination IDA
 biological_processGO:0071108 protein K48-linked deubiquitination IDA
 biological_processGO:0071549 cellular response to dexamethasone stimulus IEA
 biological_processGO:0090263 positive regulation of canonical Wnt signaling pathway IMP
 biological_processGO:1990090 cellular response to nerve growth factor stimulus IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005769 early endosome IDA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0010008 endosome membrane IEA
 cellular_componentGO:0014069 postsynaptic density IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0019897 extrinsic component of plasma membrane IDA
 cellular_componentGO:0030496 midbody IDA
 cellular_componentGO:0031313 extrinsic component of endosome membrane IBA
 cellular_componentGO:0043197 dendritic spine IEA
 molecular_functionGO:0004197 cysteine-type endopeptidase activity TAS
 molecular_functionGO:0004843 thiol-dependent ubiquitin-specific protease activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008233 peptidase activity IEA
 molecular_functionGO:0008234 cysteine-type peptidase activity IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0017124 SH3 domain binding IEA
 molecular_functionGO:0036459 thiol-dependent ubiquitinyl hydrolase activity IEA
 molecular_functionGO:0045296 cadherin binding IDA


Pathways (from Reactome)
Pathway description
Downregulation of ERBB2:ERBB3 signaling
Regulation of FZD by ubiquitination
Ub-specific processing proteases
Negative regulation of MET activity


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000132 Menorrhagia 
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 HP:0000311 Round face "An unusually round appearance of the face." [HPO:curators]
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 HP:0000505 Impaired vision 
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 HP:0000518 Cataract "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson]
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 HP:0000572 Visual loss 
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 HP:0000709 Psychosis "A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs." [HPO:curators]
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 HP:0000716 Depression "A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure." [HPO:curators]
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 HP:0000739 Anxiety 
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 HP:0000787 Kidney stones 
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 HP:0000789 Infertility 
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 HP:0000819 Diabetes mellitus 
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 HP:0000822 Hypertension "High blood pressure." [HPO:curators]
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 HP:0000833 Glucose intolerance 
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 HP:0000876 Oligomenorrhea 
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 HP:0000939 Osteoporosis "Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO, osteoporosis is characterized by a value of BMD 2.5 standard deviations or more below the young adult mean." [HPO:curators]
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 HP:0000963 Thin skin 
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 HP:0000969 Edema "An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Edema may be related to one or more of the following factors: 1) increased capillary hydrostatic pressure, 2) decreased osmotic pressure of plasma, 3) decreased tissue tension and lymphatic drainage, 4) increased osmotic pressure of tissue fluids, and 5) increased capillary permeability." [HPO:curators]
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 HP:0000978 Ecchymoses 
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 HP:0000979 Purpura 
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 HP:0001007 Hirsutism "Abnormally increased hair growth." [HPO:curators]
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 HP:0001041 Facial erythema 
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 HP:0001058 Poor wound healing 
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 HP:0001061 Acne 
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 HP:0001065 Striae distensae "Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders." [HPO:curators]
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 HP:0001254 Lethargy 
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 HP:0001345 Psychotic mentation 
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 HP:0001508 Failure to thrive 
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 HP:0001513 Obesity "A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY)." [MeSH:D009765]
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 HP:0001575 Mood changes 
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 HP:0001581 Recurrent skin infections "Infections of the skin that happen multiple times." [HPO:curators]
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 HP:0001638 Cardiomyopathy 
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 HP:0001948 Alkalosis 
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 HP:0001956 Truncal obesity "Obesity located preferentially in the trunk of the body as opposed to the extremities." [HPO:curators]
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 HP:0002027 Abdominal pain 
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 HP:0002230 Generalized hirsutism "Abnormally increased hair growth over much of the entire body." [HPO:curators]
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 HP:0002315 Headache "Cephalgia, or pain in the head originating from the cerebral vault." [HPO:curators]
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 HP:0002360 Sleep disturbances "An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness." [HPO:curators]
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 HP:0002721 Immunodeficiency 
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 HP:0002757 Recurrent fractures "The repeated occurence of bone fractures (implying an abnormally increased tendency for fracture)." [HPO:curators]
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 HP:0002808 Kyphosis 
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 HP:0002893 Pituitary adenoma 
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 HP:0002900 Hypokalemia 
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 HP:0002953 Vertebral compression fractures 
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 HP:0003154 Elevated plasma ACTH 
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 HP:0003198 Myopathy 
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 HP:0003202 Amyotrophy "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators]
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 HP:0004586 Biconcave vertebral bodies 
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 HP:0004936 Venous thrombosis 
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 HP:0007302 Bipolar affective disorder 
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 HP:0007440 Generalized hyperpigmentation 
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 HP:0008209 Premature ovarian failure 
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 HP:0008221 Enlarged adrenal glands 
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 HP:0009125 Lipodystrophy "Degenerative changes of the fat tissue." [HPO:curators]
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 HP:0010885 Aseptic necrosis "A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply." [HPO:sdoelken]
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 HP:0012203 Onychomycosis "A fungal infection of the toenails or fingernails that tends to cause the nails to thicken, discolor, disfigure, and split." [HPO:probinson]
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 HP:0012378 Fatigue "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson]
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 HP:0012743 Abdominal obesity "Excessive fat around the stomach and abdomen." [HPO:probinson]
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 HP:0100585 Teleangiectasia of the skin 
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 HP:0100608 Metrorrhagia 
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 HP:0100852 Abnormal fear/anxiety-related behavior "An abnormality of fear/anxiety-related behavior, which may relate to either abnormally reduced fear/anxiety-related response or increased fear/anxiety-related response." [HPO:sdoelken]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000115145 STAM2 / O75886 / signal transducing adaptor molecule 2  / complex
 ENSG00000133135 Q8TEB7 / RNF128 / ring finger protein 128, E3 ubiquitin protein ligase  / complex
 ENSG00000105976 MET / P08581 / MET proto-oncogene, receptor tyrosine kinase  / reaction
 ENSG00000181852 RNF41 / Q9H4P4 / ring finger protein 41  / complex / reaction
 ENSG00000144749 LRIG1 / Q96JA1 / leucine rich repeats and immunoglobulin like domains 1  / reaction
 ENSG00000167770 OTUB1 / Q96FW1 / OTU deubiquitinase, ubiquitin aldehyde binding 1  / complex
 ENSG00000070018 LRP6 / O75581 / LDL receptor related protein 6  / reaction
 ENSG00000174804 FZD4 / Q9ULV1 / frizzled class receptor 4  / reaction
 ENSG00000154342 WNT3A / P56704 / Wnt family member 3A  / reaction
 ENSG00000185359 HGS / O14964 / hepatocyte growth factor-regulated tyrosine kinase substrate  / complex
 ENSG00000142208 AKT1 / P31749 / AKT serine/threonine kinase 1  / reaction






 

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