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ISL1 (ISL LIM homeobox 1)

Identity

Alias_namesISL1 transcription factor
Alias_symbol (synonym)Isl-1
ISLET1
Other alias
HGNC (Hugo) ISL1
LocusID (NCBI) 3670
Atlas_Id 52393
Location 5q11.1  [Link to chromosome band 5q11]
Location_base_pair Starts at 51383124 and ends at 51394729 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ISL1 (5q11.1) / PFKFB3 (10p15.1)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)ISL1   6132
Cards
Entrez_Gene (NCBI)ISL1  3670  ISL LIM homeobox 1
AliasesISLET1; Isl-1
GeneCards (Weizmann)ISL1
Ensembl hg19 (Hinxton)ENSG00000016082 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000016082 [Gene_View]  chr5:51383124-51394729 [Contig_View]  ISL1 [Vega]
ICGC DataPortalENSG00000016082
TCGA cBioPortalISL1
AceView (NCBI)ISL1
Genatlas (Paris)ISL1
WikiGenes3670
SOURCE (Princeton)ISL1
Genetics Home Reference (NIH)ISL1
Genomic and cartography
GoldenPath hg38 (UCSC)ISL1  -     chr5:51383124-51394729 +  5q11.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ISL1  -     5q11.1   [Description]    (hg19-Feb_2009)
EnsemblISL1 - 5q11.1 [CytoView hg19]  ISL1 - 5q11.1 [CytoView hg38]
Mapping of homologs : NCBIISL1 [Mapview hg19]  ISL1 [Mapview hg38]
OMIM600366   
Gene and transcription
Genbank (Entrez)AK290742 BC017027 BC031213 BM680522 DQ891558
RefSeq transcript (Entrez)NM_002202
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ISL1
Cluster EST : UnigeneHs.505 [ NCBI ]
CGAP (NCI)Hs.505
Alternative Splicing GalleryENSG00000016082
Gene ExpressionISL1 [ NCBI-GEO ]   ISL1 [ EBI - ARRAY_EXPRESS ]   ISL1 [ SEEK ]   ISL1 [ MEM ]
Gene Expression Viewer (FireBrowse)ISL1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3670
GTEX Portal (Tissue expression)ISL1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP61371   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP61371  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP61371
Splice isoforms : SwissVarP61371
PhosPhoSitePlusP61371
Domaine pattern : Prosite (Expaxy)HOMEOBOX_1 (PS00027)    HOMEOBOX_2 (PS50071)    LIM_DOMAIN_1 (PS00478)    LIM_DOMAIN_2 (PS50023)   
Domains : Interpro (EBI)Homeobox-like    Homeobox_CS    Homeobox_dom    Znf_LIM   
Domain families : Pfam (Sanger)Homeobox (PF00046)    LIM (PF00412)   
Domain families : Pfam (NCBI)pfam00046    pfam00412   
Domain families : Smart (EMBL)HOX (SM00389)  LIM (SM00132)  
Conserved Domain (NCBI)ISL1
DMDM Disease mutations3670
Blocks (Seattle)ISL1
SuperfamilyP61371
Human Protein AtlasENSG00000016082
Peptide AtlasP61371
HPRD02650
IPIIPI00025071   IPI00966899   IPI01011443   IPI00966565   
Protein Interaction databases
DIP (DOE-UCLA)P61371
IntAct (EBI)P61371
FunCoupENSG00000016082
BioGRIDISL1
STRING (EMBL)ISL1
ZODIACISL1
Ontologies - Pathways
QuickGOP61371
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  RNA polymerase II activating transcription factor binding  RNA polymerase II transcription coactivator activity  enhancer sequence-specific DNA binding  enhancer sequence-specific DNA binding  neural crest cell migration  secondary heart field specification  outflow tract septum morphogenesis  outflow tract morphogenesis  endocardial cushion morphogenesis  cardiac right ventricle morphogenesis  regulation of secondary heart field cardioblast proliferation  protein binding  nucleus  nucleoplasm  cytoplasm  transcription from RNA polymerase II promoter  zinc ion binding  positive regulation of cell proliferation  positive regulation of vascular endothelial growth factor production  ligand-dependent nuclear receptor binding  spinal cord motor neuron cell fate specification  spinal cord motor neuron differentiation  visceral motor neuron differentiation  trigeminal nerve development  pituitary gland development  estrogen receptor binding  pancreas development  axon regeneration  retinal ganglion cell axon guidance  positive regulation of insulin secretion  positive regulation of granulocyte macrophage colony-stimulating factor production  positive regulation of interferon-gamma production  positive regulation of interleukin-1 alpha production  positive regulation of interleukin-1 beta production  positive regulation of interleukin-12 production  positive regulation of interleukin-6 production  positive regulation of tumor necrosis factor production  negative regulation of intracellular estrogen receptor signaling pathway  positive regulation of histone acetylation  positive regulation of DNA binding  bHLH transcription factor binding  negative regulation of neuron apoptotic process  positive regulation of cell differentiation  negative regulation of neuron differentiation  positive regulation of angiogenesis  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  neuron fate specification  mesenchymal cell differentiation  sensory system development  peripheral nervous system neuron axonogenesis  negative regulation of inflammatory response  ventricular cardiac muscle tissue morphogenesis  pharyngeal system development  cardiac muscle cell myoblast differentiation  innervation  atrial septum morphogenesis  cardiac cell fate determination  cellular response to glucocorticoid stimulus  positive regulation of granulocyte colony-stimulating factor production  negative regulation of protein homodimerization activity  negative regulation of canonical Wnt signaling pathway  positive regulation of macrophage colony-stimulating factor production  promoter-specific chromatin binding  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  RNA polymerase II activating transcription factor binding  RNA polymerase II transcription coactivator activity  enhancer sequence-specific DNA binding  enhancer sequence-specific DNA binding  neural crest cell migration  secondary heart field specification  outflow tract septum morphogenesis  outflow tract morphogenesis  endocardial cushion morphogenesis  cardiac right ventricle morphogenesis  regulation of secondary heart field cardioblast proliferation  protein binding  nucleus  nucleoplasm  cytoplasm  transcription from RNA polymerase II promoter  zinc ion binding  positive regulation of cell proliferation  positive regulation of vascular endothelial growth factor production  ligand-dependent nuclear receptor binding  spinal cord motor neuron cell fate specification  spinal cord motor neuron differentiation  visceral motor neuron differentiation  trigeminal nerve development  pituitary gland development  estrogen receptor binding  pancreas development  axon regeneration  retinal ganglion cell axon guidance  positive regulation of insulin secretion  positive regulation of granulocyte macrophage colony-stimulating factor production  positive regulation of interferon-gamma production  positive regulation of interleukin-1 alpha production  positive regulation of interleukin-1 beta production  positive regulation of interleukin-12 production  positive regulation of interleukin-6 production  positive regulation of tumor necrosis factor production  negative regulation of intracellular estrogen receptor signaling pathway  positive regulation of histone acetylation  positive regulation of DNA binding  bHLH transcription factor binding  negative regulation of neuron apoptotic process  positive regulation of cell differentiation  negative regulation of neuron differentiation  positive regulation of angiogenesis  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  neuron fate specification  mesenchymal cell differentiation  sensory system development  peripheral nervous system neuron axonogenesis  negative regulation of inflammatory response  ventricular cardiac muscle tissue morphogenesis  pharyngeal system development  cardiac muscle cell myoblast differentiation  innervation  atrial septum morphogenesis  cardiac cell fate determination  cellular response to glucocorticoid stimulus  positive regulation of granulocyte colony-stimulating factor production  negative regulation of protein homodimerization activity  negative regulation of canonical Wnt signaling pathway  positive regulation of macrophage colony-stimulating factor production  promoter-specific chromatin binding  
NDEx NetworkISL1
Atlas of Cancer Signalling NetworkISL1
Wikipedia pathwaysISL1
Orthology - Evolution
OrthoDB3670
GeneTree (enSembl)ENSG00000016082
Phylogenetic Trees/Animal Genes : TreeFamISL1
HOVERGENP61371
HOGENOMP61371
Homologs : HomoloGeneISL1
Homology/Alignments : Family Browser (UCSC)ISL1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerISL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ISL1
dbVarISL1
ClinVarISL1
1000_GenomesISL1 
Exome Variant ServerISL1
ExAC (Exome Aggregation Consortium)ISL1 (select the gene name)
Genetic variants : HAPMAP3670
Genomic Variants (DGV)ISL1 [DGVbeta]
DECIPHERISL1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisISL1 
Mutations
ICGC Data PortalISL1 
TCGA Data PortalISL1 
Broad Tumor PortalISL1
OASIS PortalISL1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICISL1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDISL1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ISL1
DgiDB (Drug Gene Interaction Database)ISL1
DoCM (Curated mutations)ISL1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ISL1 (select a term)
intoGenISL1
Cancer3DISL1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600366   
Orphanet12490   
MedgenISL1
Genetic Testing Registry ISL1
NextProtP61371 [Medical]
TSGene3670
GENETestsISL1
Target ValidationISL1
Huge Navigator ISL1 [HugePedia]
snp3D : Map Gene to Disease3670
BioCentury BCIQISL1
ClinGenISL1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3670
Chemical/Pharm GKB GenePA29932
Clinical trialISL1
Miscellaneous
canSAR (ICR)ISL1 (select the gene name)
Probes
Litterature
PubMed76 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineISL1
EVEXISL1
GoPubMedISL1
iHOPISL1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:56:35 CEST 2017

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