ENSG00000086758


Homo sapiens

Features
Gene ID: ENSG00000086758
  
Biological name :HUWE1
  
Synonyms : HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase / HUWE1 / Q7Z6Z7
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: -1
Band: p11.22
Gene start: 53532096
Gene end: 53686729
  
Corresponding Affymetrix probe sets: 208598_s_at (Human Genome U133 Plus 2.0 Array)   208599_at (Human Genome U133 Plus 2.0 Array)   214673_s_at (Human Genome U133 Plus 2.0 Array)   236294_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000340648
Ensembl peptide - ENSP00000262854
Ensembl peptide - ENSP00000403236
Ensembl peptide - ENSP00000484417
Ensembl peptide - ENSP00000483891
Ensembl peptide - ENSP00000479451
Ensembl peptide - ENSP00000413651
NCBI entrez gene - 10075     See in Manteia.
OMIM - 300697
RefSeq - XM_017029206
RefSeq - XM_017029198
RefSeq - XM_017029199
RefSeq - XM_017029200
RefSeq - XM_017029201
RefSeq - XM_017029202
RefSeq - XM_017029203
RefSeq - XM_017029204
RefSeq - XM_017029205
RefSeq - NM_031407
RefSeq - XM_005261965
RefSeq - XM_011530747
RefSeq - XM_011530751
RefSeq - XM_017029191
RefSeq - XM_017029192
RefSeq - XM_017029193
RefSeq - XM_017029194
RefSeq - XM_017029195
RefSeq - XM_017029196
RefSeq - XM_017029197
RefSeq Peptide - NP_113584
swissprot - A0A087X1S3
swissprot - A0A087X146
swissprot - A0A024R9W5
swissprot - H0Y659
swissprot - A0A024R9U8
swissprot - A0A1B0GXC7
swissprot - Q7Z6Z7
Ensembl - ENSG00000086758
  
Related genetic diseases (OMIM): 300706 - Mental retardation, X-linked syndromic, Turner type, 300706
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
 huwe1ENSDARG00000016782Danio rerio
 Huwe1ENSMUSG00000025261Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
UBR5 / O95071 / ubiquitin protein ligase E3 component n-recognin 5ENSG0000010451710
AREL1 / O15033 / apoptosis resistant E3 ubiquitin protein ligase 1ENSG000001196826


Protein motifs (from Interpro)
Interpro ID Name
 IPR000569  HECT domain
 IPR004170  WWE domain
 IPR009060  UBA-like superfamily
 IPR010309  E3 ubiquitin ligase, domain of unknown function DUF908
 IPR010314  E3 ubiquitin ligase, domain of unknown function DUF913
 IPR011989  Armadillo-like helical
 IPR015940  Ubiquitin-associated domain
 IPR016024  Armadillo-type fold
 IPR025527  Domain of unknown function DUF4414
 IPR035983  HECT, E3 ligase catalytic domain
 IPR037197  WWE domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000209 protein polyubiquitination IDA
 biological_processGO:0006281 DNA repair IEA
 biological_processGO:0006284 base-excision repair IMP
 biological_processGO:0006513 protein monoubiquitination IDA
 biological_processGO:0006974 cellular response to DNA damage stimulus IEA
 biological_processGO:0016567 protein ubiquitination IEA
 biological_processGO:0016574 histone ubiquitination IDA
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0043312 neutrophil degranulation TAS
 biological_processGO:1903955 positive regulation of protein targeting to mitochondrion IMP
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005634 nucleus IBA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0016020 membrane HDA
 cellular_componentGO:0034774 secretory granule lumen TAS
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:1904813 ficolin-1-rich granule lumen TAS
 molecular_functionGO:0003677 DNA binding ISS
 molecular_functionGO:0003723 RNA binding HDA
 molecular_functionGO:0004842 ubiquitin-protein transferase activity TAS
 molecular_functionGO:0005488 binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0061630 ubiquitin protein ligase activity IBA


Pathways (from Reactome)
Pathway description
Neutrophil degranulation
Antigen processing: Ubiquitination & Proteasome degradation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000053 Macroorchidism "The presence of abnormally large testes." [HPO:curators]
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 HP:0000256 Macrocephaly "The presence of an abnormally large `skull` (FMA:46565)." [HPO:probinson]
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 HP:0000276 Long face 
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 HP:0000280 Coarse facial features 
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 HP:0000307 Pointed chin 
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 HP:0000494 Downward slanting palpebral fissures 
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 HP:0000601 Hypotelorism 
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 HP:0000750 Impaired language development 
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 HP:0001182 Tapered fingers 
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 HP:0001231 Abnormality of the fingernails "An abnormality of the `fingernails` (FMA:54327)." [HPO:probinson]
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 HP:0001249 Mental retardation 
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 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
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 HP:0001256 Mental retardation, mild "Mild mental retardation is defined as an intelligence quotient (IQ) in the range of 50-69." [HPO:curators]
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0001276 Hypertonia 
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 HP:0001347 Hyperreflexia "The presence of overactive or overresponsive reflexes." [HPO:curators]
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 HP:0001360 Holoprosencephaly "Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles." [gc:hpe]
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 HP:0001377 Limited elbow extension 
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 HP:0001417 X-linked inheritance "A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome." [HPO:curators]
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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:0002194 Delayed gross motor development 
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 HP:0002342 Mental retardation, moderate "Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49." [HPO:curators]
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 HP:0006466 Contractures of the ankles 
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 HP:0008222 Female infertility 
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 HP:0010864 Mental retardation, severe "Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34." [HPO:probinson]
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 HP:0100596 Absent nares 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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