ENSG00000204209


Homo sapiens

Features
Gene ID: ENSG00000204209
  
Biological name :DAXX
  
Synonyms : DAXX / death domain associated protein / Q9UER7
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: -1
Band: p21.32
Gene start: 33318558
Gene end: 33323016
  
Corresponding Affymetrix probe sets: 201763_s_at (Human Genome U133 Plus 2.0 Array)   216038_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000396876
Ensembl peptide - ENSP00000390008
Ensembl peptide - ENSP00000406008
Ensembl peptide - ENSP00000482399
Ensembl peptide - ENSP00000266000
Ensembl peptide - ENSP00000363668
NCBI entrez gene - 1616     See in Manteia.
OMIM - 603186
RefSeq - XM_005248860
RefSeq - NM_001141969
RefSeq - NM_001141970
RefSeq - NM_001254717
RefSeq - NM_001350
RefSeq Peptide - NP_001135441
RefSeq Peptide - NP_001341
RefSeq Peptide - NP_001135442
RefSeq Peptide - NP_001241646
swissprot - Q9UER7
swissprot - A2AB94
swissprot - Q4VX54
swissprot - A0A024RCS3
Ensembl - ENSG00000204209
  
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
 daxxENSDARG00000000729Danio rerio
 DaxxENSMUSG00000002307Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR005012  Daxx protein
 IPR031333  Daxx, N-terminal Rassf1C-interacting domain
 IPR032675  Leucine-rich repeat domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001934 positive regulation of protein phosphorylation IGI
 biological_processGO:0006325 chromatin organization IEA
 biological_processGO:0006334 nucleosome assembly IDA
 biological_processGO:0006338 chromatin remodeling IDA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IDA
 biological_processGO:0006915 apoptotic process TAS
 biological_processGO:0007257 activation of JUN kinase activity TAS
 biological_processGO:0008625 extrinsic apoptotic signaling pathway via death domain receptors TAS
 biological_processGO:0016032 viral process IEA
 biological_processGO:0030521 androgen receptor signaling pathway IDA
 biological_processGO:0031396 regulation of protein ubiquitination IDA
 biological_processGO:0034605 cellular response to heat IDA
 biological_processGO:0034620 cellular response to unfolded protein IDA
 biological_processGO:0045860 positive regulation of protein kinase activity IGI
 biological_processGO:0045892 negative regulation of transcription, DNA-templated IDA
 biological_processGO:0071276 cellular response to cadmium ion IDA
 biological_processGO:0071280 cellular response to copper ion IDA
 biological_processGO:0072738 cellular response to diamide IDA
 biological_processGO:1901216 positive regulation of neuron death IGI
 biological_processGO:1903936 cellular response to sodium arsenite IDA
 cellular_componentGO:0000775 chromosome, centromeric region IDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005694 chromosome IEA
 cellular_componentGO:0005730 nucleolus IEA
 cellular_componentGO:0005737 cytoplasm TAS
 cellular_componentGO:0005829 cytosol ISS
 cellular_componentGO:0016604 nuclear body IDA
 cellular_componentGO:0016605 PML body TAS
 cellular_componentGO:0070603 SWI/SNF superfamily-type complex IDA
 molecular_functionGO:0002039 p53 binding IPI
 molecular_functionGO:0003713 transcription coactivator activity IDA
 molecular_functionGO:0003714 transcription corepressor activity IMP
 molecular_functionGO:0005057 obsolete signal transducer activity, downstream of receptor TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0019899 enzyme binding IPI
 molecular_functionGO:0019901 protein kinase binding IPI
 molecular_functionGO:0030295 protein kinase activator activity IGI
 molecular_functionGO:0031072 heat shock protein binding TAS
 molecular_functionGO:0031625 ubiquitin protein ligase binding IPI
 molecular_functionGO:0032183 SUMO binding IPI
 molecular_functionGO:0042393 histone binding IDA
 molecular_functionGO:0046982 protein heterodimerization activity IDA
 molecular_functionGO:0047485 protein N-terminus binding IPI
 molecular_functionGO:0050681 androgen receptor binding IPI


Pathways (from Reactome)
Pathway description
SUMOylation of transcription cofactors
Regulation of TP53 Degradation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0001005 Dermatological manifestations of systemic disorders 
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 HP:0001399 Hepatic failure 
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 HP:0001708 Right ventricular failure 
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 HP:0001824 Weight loss 
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 HP:0001891 Iron deficiency anemia 
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 HP:0001962 Palpitations 
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 HP:0002017 Nausea and vomiting 
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 HP:0002039 Anorexia 
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 HP:0002044 Zollinger-Ellison syndrome 
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 HP:0002240 Hepatomegaly "An abnormal enlargment of the liver." [HPO:curators]
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 HP:0002248 Hematemesis 
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 HP:0002249 Melena 
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 HP:0002254 Intermittent diarrhea 
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 HP:0002574 Episodic abdominal pain 
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 HP:0002615 Hypotension 
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 HP:0002668 Paragangliomas "A carotid body tumor (also called paraganglionoma or chemodectoma) is a tumor found in the upper neck at the branching of the carotid artery. They arise from the chemoreceptor organ (paraganglion) located in the adventitia of the carotid artery bifurcation." [HPO:curators]
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 HP:0002730 Chronic noninfectious lymphadenopathy 
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 HP:0002910 Elevated transaminases "Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage." [HPO:curators]
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 HP:0003144 Increased serum serotonin in 25% 
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 HP:0003154 Elevated plasma ACTH 
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 HP:0004385 Protracted diarrhea 
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 HP:0004396 Poor appetite 
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 HP:0005180 Tricuspid insufficiency 
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 HP:0007380 Facial telangiectatic vessels "Telangiectases (small dilated blood vessels) located near the surface of the skin of the face." [HPO:curators]
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 HP:0012701 Bowel urgency "A sudden, irresistible need to have a bowel movement." [UToronto:htrang]
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 HP:0025428 Bronchospasm "A spasm (sudden, involuntary constriction) of the bronchioles." []
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 HP:0030145 Lack of bowel sounds "Complete lack of abdominal sounds as assayed by examination of the abdomen with a stethoscope." [HPO:probinson]
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 HP:0030149 Cardiogenic shock "Severely decreased cardiac output with evidence of inadequate end-organ perfusion (i.e., tissue hypoxia) in the presence of adequate intravascular volume." [pmid:24188221]
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 HP:0030446 Atypical pulmonary carcinoid tumor 
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 HP:0031566 Abnormal pulmonary valve cusp morphology "Any structural anomaly of the pulmonary valve leaflets." [Fyler:1652]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000116030 SUMO1 / P63165 / small ubiquitin-like modifier 1  / complex / reaction
 ENSG00000135679 MDM2 / Q00987 / MDM2 proto-oncogene  / complex / reaction
 ENSG00000187555 USP7 / Q93009 / ubiquitin specific peptidase 7  / complex / reaction
 ENSG00000103275 UBE2I / P63279 / ubiquitin conjugating enzyme E2 I  / reaction






 

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