ENSG00000016082


Homo sapiens

Features
Gene ID: ENSG00000016082
  
Biological name :ISL1
  
Synonyms : ISL1 / ISL LIM homeobox 1 / P61371
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 5
Strand: 1
Band: q11.1
Gene start: 51383391
Gene end: 51394738
  
Corresponding Affymetrix probe sets: 206104_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000230658
Ensembl peptide - ENSP00000422676
NCBI entrez gene - 3670     See in Manteia.
OMIM - 600366
RefSeq - NM_002202
RefSeq Peptide - NP_002193
swissprot - D6RBJ1
swissprot - P61371
Ensembl - ENSG00000016082
  

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
 isl1ENSDARG00000004023Danio rerio
 ISL1ENSGALG00000014884Gallus gallus
 Isl1ENSMUSG00000042258Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ISL2 / Q96A47 / ISL LIM homeobox 2ENSG0000015955676
LMX1A / Q8TE12 / LIM homeobox transcription factor 1 alphaENSG0000016276131
LHX5 / Q9H2C1 / LIM homeobox 5ENSG0000008911630
LMX1B / O60663 / LIM homeobox transcription factor 1 betaENSG0000013694430
LHX1 / P48742 / LIM homeobox 1ENSG0000027370628
LHX9 / Q9NQ69 / LIM homeobox 9ENSG0000014335528
LHX3 / Q9UBR4 / LIM homeobox 3ENSG0000010718728
LHX2 / P50458 / LIM homeobox 2ENSG0000010668927
LHX8 / Q68G74 / LIM homeobox 8ENSG0000016262427
LHX6 / Q9UPM6 / LIM homeobox 6ENSG0000010685227
LHX4 / Q969G2 / LIM homeobox 4ENSG0000012145426
LMO4 / P61968 / LIM domain only 4ENSG0000014301316
LMO1 / P25800 / LIM domain only 1ENSG0000016640715
LMO3 / Q8TAP4 / LIM domain only 3ENSG0000004854013
LMO2 / P25791 / LIM domain only 2ENSG0000013536313


Protein motifs (from Interpro)
Interpro ID Name
 IPR001356  Homeobox domain
 IPR001781  Zinc finger, LIM-type
 IPR009057  Homeobox-like domain superfamily
 IPR017970  Homeobox, conserved site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IEA
 biological_processGO:0001755 neural crest cell migration IEA
 biological_processGO:0003007 heart morphogenesis IEA
 biological_processGO:0003139 secondary heart field specification IMP
 biological_processGO:0003148 outflow tract septum morphogenesis IEA
 biological_processGO:0003151 outflow tract morphogenesis IEA
 biological_processGO:0003203 endocardial cushion morphogenesis IEA
 biological_processGO:0003215 cardiac right ventricle morphogenesis IEA
 biological_processGO:0003266 regulation of secondary heart field cardioblast proliferation IEA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006366 transcription by RNA polymerase II IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007507 heart development IEA
 biological_processGO:0008284 positive regulation of cell proliferation IEA
 biological_processGO:0010468 regulation of gene expression IEA
 biological_processGO:0010575 positive regulation of vascular endothelial growth factor production IEA
 biological_processGO:0010718 positive regulation of epithelial to mesenchymal transition IEA
 biological_processGO:0021520 spinal cord motor neuron cell fate specification IEA
 biological_processGO:0021522 spinal cord motor neuron differentiation IEA
 biological_processGO:0021524 visceral motor neuron differentiation IEA
 biological_processGO:0021559 trigeminal nerve development IEA
 biological_processGO:0021983 pituitary gland development IEA
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0030182 neuron differentiation IEA
 biological_processGO:0031016 pancreas development IEA
 biological_processGO:0031103 axon regeneration IEA
 biological_processGO:0031290 retinal ganglion cell axon guidance IEA
 biological_processGO:0032024 positive regulation of insulin secretion IEA
 biological_processGO:0032725 positive regulation of granulocyte macrophage colony-stimulating factor production IEA
 biological_processGO:0032729 positive regulation of interferon-gamma production IEA
 biological_processGO:0032730 positive regulation of interleukin-1 alpha production IEA
 biological_processGO:0032731 positive regulation of interleukin-1 beta production IEA
 biological_processGO:0032735 positive regulation of interleukin-12 production IEA
 biological_processGO:0032755 positive regulation of interleukin-6 production IEA
 biological_processGO:0032760 positive regulation of tumor necrosis factor production IEA
 biological_processGO:0033147 negative regulation of intracellular estrogen receptor signaling pathway IEA
 biological_processGO:0035066 positive regulation of histone acetylation IEA
 biological_processGO:0042531 positive regulation of tyrosine phosphorylation of STAT protein IEA
 biological_processGO:0043388 positive regulation of DNA binding IEA
 biological_processGO:0043524 negative regulation of neuron apoptotic process IEA
 biological_processGO:0045597 positive regulation of cell differentiation IEA
 biological_processGO:0045665 negative regulation of neuron differentiation IEA
 biological_processGO:0045766 positive regulation of angiogenesis IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 biological_processGO:0048663 neuron fate commitment IEA
 biological_processGO:0048665 neuron fate specification IEA
 biological_processGO:0048762 mesenchymal cell differentiation IEA
 biological_processGO:0048880 sensory system development IEA
 biological_processGO:0048935 peripheral nervous system neuron development IEA
 biological_processGO:0048936 peripheral nervous system neuron axonogenesis IEA
 biological_processGO:0050680 negative regulation of epithelial cell proliferation IEA
 biological_processGO:0050728 negative regulation of inflammatory response IEA
 biological_processGO:0055010 ventricular cardiac muscle tissue morphogenesis IEA
 biological_processGO:0060037 pharyngeal system development IEA
 biological_processGO:0060379 cardiac muscle cell myoblast differentiation IEA
 biological_processGO:0060384 innervation IEA
 biological_processGO:0060413 atrial septum morphogenesis IEA
 biological_processGO:0060913 cardiac cell fate determination IDA
 biological_processGO:0071385 cellular response to glucocorticoid stimulus IEA
 biological_processGO:0071657 positive regulation of granulocyte colony-stimulating factor production IEA
 biological_processGO:0090074 negative regulation of protein homodimerization activity IEA
 biological_processGO:0090090 negative regulation of canonical Wnt signaling pathway IEA
 biological_processGO:1901258 positive regulation of macrophage colony-stimulating factor production IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005737 cytoplasm NAS
 molecular_functionGO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
 molecular_functionGO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IEA
 molecular_functionGO:0001102 RNA polymerase II activating transcription factor binding IPI
 molecular_functionGO:0001158 enhancer sequence-specific DNA binding NAS
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003682 chromatin binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0016922 nuclear receptor binding IEA
 molecular_functionGO:0030331 estrogen receptor binding IEA
 molecular_functionGO:0043425 bHLH transcription factor binding IPI
 molecular_functionGO:0043565 sequence-specific DNA binding IEA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:1990841 promoter-specific chromatin binding IEA


Pathways (from Reactome)
Pathway description
Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP)
Regulation of expression of SLITs and ROBOs


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000010 Recurrent urinary tract infections "Repeated infections of the urinary tract." [HPO:curators]
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 HP:0000023 Inguinal hernia 
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 HP:0000039 Epispadias "Displacement of the urethral opening on the dorsal (superior) surface of the penis." [HPO:curators]
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 HP:0000056 Abnormality of the clitoris 
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 HP:0000076 Vesicoureteral reflux "Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes." [HPO:curators]
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 HP:0001537 Umbilical hernia "Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect." [HPO:curators]
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 HP:0001539 Omphalocele 
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 HP:0002566 Intestinal malrotation "An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis." [HPO:curators]
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 HP:0002607 Bowel incontinence 
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 HP:0002836 Bladder exstrophy 
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 HP:0004378 Abnormality of the anus "Abnormality of the anus, i.e., the opening at the bottom end of the intestinal tract." [HPO:curators]
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 HP:0008736 Hypoplasia of penis 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000016082 ISL1 / P61371 / ISL LIM homeobox 1  / complex
 ENSG00000121454 LHX4 / Q969G2 / LIM homeobox 4  / complex
 ENSG00000198728 LDB1 / Q86U70 / LIM domain binding 1  / complex
 ENSG00000107187 LHX3 / Q9UBR4 / LIM homeobox 3  / complex






 

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