ENSG00000108788


Homo sapiens

Features
Gene ID: ENSG00000108788
  
Biological name :MLX
  
Synonyms : MLX / MLX, MAX dimerization protein / Q9UH92
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 17
Strand: 1
Band: q21.2
Gene start: 42567068
Gene end: 42573239
  
Corresponding Affymetrix probe sets: 1570347_at (Human Genome U133 Plus 2.0 Array)   210752_s_at (Human Genome U133 Plus 2.0 Array)   213708_s_at (Human Genome U133 Plus 2.0 Array)   217909_s_at (Human Genome U133 Plus 2.0 Array)   217910_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000246912
Ensembl peptide - ENSP00000320913
Ensembl peptide - ENSP00000416627
Ensembl peptide - ENSP00000464697
NCBI entrez gene - 6945     See in Manteia.
OMIM - 602976
RefSeq - XM_017024991
RefSeq - NM_170607
RefSeq - NM_198204
RefSeq - NM_198205
RefSeq Peptide - NP_733752
RefSeq Peptide - NP_937847
RefSeq Peptide - NP_937848
swissprot - Q9UH92
swissprot - K7EID0
Ensembl - ENSG00000108788
  

This gene has been taged as a transcription factor by TFT
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
 mlxENSDARG00000037891Danio rerio
 MLXENSGALG00000003199Gallus gallus
 MlxENSMUSG00000017801Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
MLXIP / Q9HAP2 / MLX interacting proteinENSG0000017572724
MLXIPL / Q9NP71 / MLX interacting protein likeENSG0000000995024


Protein motifs (from Interpro)
Interpro ID Name
 IPR011598  Myc-type, basic helix-loop-helix (bHLH) domain
 IPR032647  Max-like protein X
 IPR036638  Helix-loop-helix DNA-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IMP
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0045892 negative regulation of transcription, DNA-templated IDA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0031965 nuclear membrane IDA
 molecular_functionGO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IDA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
 molecular_functionGO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IMP
 molecular_functionGO:0003677 DNA binding IDA
 molecular_functionGO:0003700 DNA-binding transcription factor activity NAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008134 transcription factor binding IEA
 molecular_functionGO:0042803 protein homodimerization activity IPI
 molecular_functionGO:0046982 protein heterodimerization activity IPI
 molecular_functionGO:0046983 protein dimerization activity IEA


Pathways (from Reactome)
Pathway description
ChREBP activates metabolic gene expression


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000488 Retinopathy 
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 HP:0000975 Hyperhidrosis "An abnormally increased perspiration." [HPO:probinson]
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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:0001324 Muscle weakness "Reduced strength of muscles." [HPO:curators]
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 HP:0001369 Arthritis 
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 HP:0001482 Subcutaneous nodules 
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 HP:0001639 Hypertrophic cardiomyopathy 
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 HP:0001646 Abnormality of the aortic valve "Any abnormality of the `aortic valve` (FMA:7236)." [HPO:curators]
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 HP:0001658 Myocardial infarction 
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 HP:0001824 Weight loss 
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 HP:0001903 Anemia 
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 HP:0001945 Fever 
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 HP:0002039 Anorexia 
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 HP:0002076 Migraine 
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 HP:0002092 Pulmonary hypertension 
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 HP:0002105 Hemoptysis "Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs." [HPO:curators]
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 HP:0002167 Neurological speech impairment 
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 HP:0002633 Vasculitis 
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 HP:0002637 Cerebral ischemia 
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 HP:0002793 Abnormal respiratory patterns 
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 HP:0002829 Arthralgia 
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 HP:0003326 Myalgia "A tendency to experience muscle pain." [HPO:curators]
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 HP:0004306 Abnormality of the endocardium "An abnormality of the `endocardium` (FMA:7280)." [HPO:probinson]
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 HP:0004372 Reduced consciousness/confusion 
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 HP:0004970 Ascending aortic dilation 
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 HP:0005244 Gastrointestinal infarctions 
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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:0100533 Inflammatory abnormality of the eye "Inflammation of the eye, parts of the eye or the periorbital region." [HPO:sdoelken]
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 HP:0100576 Amaurosis fugax "A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition." [HPO:sdoelken]
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 HP:0100735 Hypertensive crisis 
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 HP:0100749 Chest pain 
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 HP:0100758 Gangrene "A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis)." [ISBN:9780781770873]
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 HP:0200042 skin ulcer "A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat." [HPO:SKOEHLER]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000009950 MLXIPL / Q9NP71 / MLX interacting protein like  / reaction / complex






 

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