Isl1 ISL1 transcription factor, LIM/homeodomain [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Isl1provided by MGI
Official Full Name: ISL1 transcription factor, LIM/homeodomainprovided by MGI
Primary source: MGI:MGI:101791
See related: Ensembl:ENSMUSG00000042258 AllianceGenome:MGI:101791
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: Enables DNA-binding transcription activator activity, RNA polymerase II-specific; promoter-specific chromatin binding activity; and transcription cis-regulatory region binding activity. Involved in several processes, including heart development; nervous system development; and positive regulation of cytokine production. Acts upstream of or within several processes, including heart development; neuron differentiation; and positive regulation of macromolecule metabolic process. Located in chromatin and nucleus. Is expressed in several structures, including alimentary system; branchial arch; genitourinary system; heart and pericardium; and nervous system. Human ortholog(s) of this gene implicated in atrial fibrillation; congenital heart disease (multiple); diabetes mellitus (multiple); dilated cardiomyopathy; and myocardial infarction. Orthologous to human ISL1 (ISL LIM homeobox 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in whole brain E14.5 (RPKM 10.4), CNS E14 (RPKM 9.7) and 9 other tissues See more
Orthologs: human all
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Genomic context

Location:: 13 D2.2; 13 64.87 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	13	NC_000079.7 (116434806..116446224, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	13	NC_000079.6 (116298270..116309688, complement)

Chromosome 13 - NC_000079.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Missense mutation of ISL1 (E283D) is associated with the development of type 2 diabetes.
Title: Missense mutation of ISL1 (E283D) is associated with the development of type 2 diabetes.
Isl Identifies the Extraembryonic Mesodermal/Allantois Progenitors and is Required for Placenta Morphogenesis and Vasculature Formation.
Title: Isl Identifies the Extraembryonic Mesodermal/Allantois Progenitors and is Required for Placenta Morphogenesis and Vasculature Formation.
ISL1 and POU4F1 Directly Interact to Regulate the Differentiation and Survival of Inner Ear Sensory Neurons.
Title: ISL1 and POU4F1 Directly Interact to Regulate the Differentiation and Survival of Inner Ear Sensory Neurons.
Taurine promotes insulin synthesis by enhancing Isl-1 expression through miR-7a/RAF1/ERK1/2 pathway.
Title: Taurine promotes insulin synthesis by enhancing Isl-1 expression through miR-7a/RAF1/ERK1/2 pathway.
ISL1 regulates lung branching morphogenesis via Shh signaling pathway.
Title: ISL1 regulates lung branching morphogenesis via Shh signaling pathway.
Isl1 promotes gene transcription through physical interaction with Set1/Mll complexes.
Title: Isl1 promotes gene transcription through physical interaction with Set1/Mll complexes.
Disrupting methyl-CpG-binding protein 2 expression induces the transformation of induced pluripotent stem cell cardiomyocytes into pacemaker-like cells by insulin gene enhancer binding protein 1.
Title: Disrupting methyl-CpG-binding protein 2 expression induces the transformation of induced pluripotent stem cell cardiomyocytes into pacemaker-like cells by insulin gene enhancer binding protein 1.
Neurog2 regulates Isl1 to modulate horizontal cell number.
Title: Neurog2 regulates Isl1 to modulate horizontal cell number.
ISL1/SHH/CXCL12 signaling regulates myogenic cell migration during mouse tongue development.
Title: ISL1/SHH/CXCL12 signaling regulates myogenic cell migration during mouse tongue development.
ISL1 is necessary for auditory neuron development and contributes toward tonotopic organization.
Title: ISL1 is necessary for auditory neuron development and contributes toward tonotopic organization.

Submit: New GeneRIF Correction See all GeneRIFs (130)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (7) 1 citation
Targeted (12) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Isl1 (e-PCR), detects polymorphism
- UniSTS:274179

PMC186328P1 (e-PCR)
- UniSTS:271699

Isl1 (e-PCR), detects polymorphism
- UniSTS:474717

Isl1 (e-PCR), detects polymorphism
- UniSTS:515970

Isl1 (e-PCR), detects polymorphism
- UniSTS:515971

Isl1 (e-PCR), detects polymorphism
- UniSTS:516527

Isl1 (e-PCR), detects polymorphism
- UniSTS:547558

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISO Inferred from Sequence Orthology more info
enables LIM domain binding	ISO Inferred from Sequence Orthology more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables RNA polymerase II-specific DNA-binding transcription factor binding	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II-specific DNA-binding transcription factor binding	ISO Inferred from Sequence Orthology more info
enables bHLH transcription factor binding	IEA Inferred from Electronic Annotation more info
enables bHLH transcription factor binding	ISO Inferred from Sequence Orthology more info
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables core promoter sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables nuclear estrogen receptor binding	ISO Inferred from Sequence Orthology more info
enables nuclear receptor binding	ISO Inferred from Sequence Orthology more info
enables promoter-specific chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables sequence-specific double-stranded DNA binding	ISO Inferred from Sequence Orthology more info
enables transcription cis-regulatory region binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in atrial septum morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in axonogenesis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of canonical Wnt signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within cardiac cell fate determination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac cell fate determination	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cardiac muscle cell myoblast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac right ventricle morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in endocardial cushion morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within heart development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in innervation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mesenchymal cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within negative regulation of canonical Wnt signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of epithelial cell proliferation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of inflammatory response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of intracellular estrogen receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of mesenchymal cell proliferation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of neuron apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of neuron differentiation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of protein-containing complex assembly	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neural crest cell migration	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of neuron differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within neuron differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuron fate commitment	IGI Inferred from Genetic Interaction more info	PubMed
involved_in neuron fate specification	IBA Inferred from Biological aspect of Ancestor more info
involved_in neuron fate specification	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in outflow tract morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in outflow tract septum morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within pancreas development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in peripheral nervous system neuron axonogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within peripheral nervous system neuron development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in pharyngeal system development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within pituitary gland development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of DNA binding	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of calcium ion import	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of epithelial to mesenchymal transition	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of granulocyte colony-stimulating factor production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of granulocyte macrophage colony-stimulating factor production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of insulin secretion	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of insulin secretion	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of interleukin-1 alpha production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of interleukin-1 beta production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of interleukin-12 production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of interleukin-6 production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of macrophage colony-stimulating factor production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of peptidyl-serine phosphorylation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of smoothened signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of tumor necrosis factor production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of type B pancreatic cell apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of type II interferon production	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of tyrosine phosphorylation of STAT protein	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of vascular endothelial growth factor production	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of regulation of heart rate by cardiac conduction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of secondary heart field cardioblast proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within retinal ganglion cell axon guidance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in secondary heart field specification	IEA Inferred from Electronic Annotation more info
involved_in secondary heart field specification	ISO Inferred from Sequence Orthology more info
involved_in sensory system development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sinoatrial node cell development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within spinal cord motor neuron cell fate specification	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within spinal cord motor neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within stem cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in trigeminal nerve development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ventricular cardiac muscle tissue morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within visceral motor neuron differentiation	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in chromatin	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
part_of transcription regulator complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: insulin gene enhancer protein ISL-1

Names: Islet 1; Lim-homeodomain protein Islet1; insulin related protein; islet-1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_021459.4 → NP_067434.3 insulin gene enhancer protein ISL-1

See identical proteins and their annotated locations for NP_067434.3

Status: VALIDATED

Source sequence(s)

AC170086, AK090263, CF725499

Consensus CDS

CCDS26790.1

UniProtKB/Swiss-Prot

P61372, Q812D8

UniProtKB/TrEMBL

A2RSV5, Q8BTH7

Related

ENSMUSP00000044879.7, ENSMUST00000036060.13

Conserved Domains (3) summary

cd09366
Location:17 → 71

LIM1_Isl; The first LIM domain of Isl, a member of LHX protein family

cd09374
Location:79 → 133

LIM2_Isl; The second LIM domain of Isl, a member of LHX protein family

smart00389
Location:181 → 237

HOX; Homeodomain