ENSG00000186487


Homo sapiens

Features
Gene ID: ENSG00000186487
  
Biological name :MYT1L
  
Synonyms : myelin transcription factor 1 like / MYT1L / Q9UL68
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: -1
Band: p25.3
Gene start: 1789113
Gene end: 2331348
  
Corresponding Affymetrix probe sets: 1554633_a_at (Human Genome U133 Plus 2.0 Array)   210016_at (Human Genome U133 Plus 2.0 Array)   216672_s_at (Human Genome U133 Plus 2.0 Array)   241485_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000496210
Ensembl peptide - ENSP00000396103
Ensembl peptide - ENSP00000473409
Ensembl peptide - ENSP00000382111
Ensembl peptide - ENSP00000382114
Ensembl peptide - ENSP00000384219
NCBI entrez gene - 23040     See in Manteia.
OMIM - 613084
RefSeq - XM_017003622
RefSeq - NM_001303052
RefSeq - NM_001329844
RefSeq - NM_001329845
RefSeq - NM_001329847
RefSeq - NM_001329848
RefSeq - NM_015025
RefSeq - XM_017003613
RefSeq - XM_017003614
RefSeq - XM_017003615
RefSeq - XM_017003616
RefSeq - XM_017003617
RefSeq - XM_017003618
RefSeq - XM_017003619
RefSeq - XM_017003620
RefSeq - XM_017003621
RefSeq - XM_011510318
RefSeq - XM_011510319
RefSeq - XM_011510320
RefSeq - XM_011510321
RefSeq - XM_011510322
RefSeq - XM_011510323
RefSeq - XM_011510324
RefSeq - XM_011510325
RefSeq - XM_011510326
RefSeq - XM_011510327
RefSeq - XM_011510328
RefSeq - XM_011510331
RefSeq - XM_011510332
RefSeq - XM_017003604
RefSeq - XM_017003605
RefSeq - XM_017003606
RefSeq - XM_017003607
RefSeq - XM_017003608
RefSeq - XM_017003609
RefSeq - XM_017003610
RefSeq - XM_017003611
RefSeq - XM_017003612
RefSeq Peptide - NP_001289981
RefSeq Peptide - NP_001316773
RefSeq Peptide - NP_001316774
RefSeq Peptide - NP_001316776
RefSeq Peptide - NP_001316777
RefSeq Peptide - NP_055840
swissprot - Q9UL68
swissprot - R4GMY9
swissprot - H7BYU4
Ensembl - ENSG00000186487
  
Related genetic diseases (OMIM): 616521 - Mental retardation, autosomal dominant 39, 616521

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
 CABZ01067581.1ENSDARG00000116393Danio rerio
 myt1laENSDARG00000008209Danio rerio
 MYT1LENSGALG00000016384Gallus gallus
 Myt1lENSMUSG00000061911Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
MYT1 / Q01538 / myelin transcription factor 1ENSG0000019613248
ST18 / O60284 / ST18, C2H2C-type zinc fingerENSG0000014748841


Protein motifs (from Interpro)
Interpro ID Name
 IPR002515  Zinc finger, C2HC-type
 IPR013681  Myelin transcription factor 1
 IPR036060  Zinc finger, C2HC-type superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II ISS
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006357 regulation of transcription by RNA polymerase II ISS
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007399 nervous system development ISS
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0030182 neuron differentiation ISS
 biological_processGO:0048663 neuron fate commitment ISS
 biological_processGO:0048665 neuron fate specification ISS
 biological_processGO:0048666 neuron development ISS
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005694 chromosome IEA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding ISM
 molecular_functionGO:0001078 transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding ISS
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IEA
 molecular_functionGO:0008270 zinc ion binding IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000718 Aggressive behavior "Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself." [HPO:curators]
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 HP:0000750 Impaired language development 
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 HP:0001249 Mental retardation 
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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: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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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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contact: otassy@igbmc.fr