• Gene id: 3670

Gene Summary

• Gene Symbol: ISL1   Gene   UCSC   Ensembl
• Aliases: ISLET1, Isl-1
• Gene name: ISL LIM homeobox 1
• Alternate names: insulin gene enhancer protein ISL-1, ISL1 transcription factor, LIM/homeodomain, islet-1,
• Gene location: 5q11.1 (69820803: 69906236)     Exons: 10     NC_000009.12
• Gene summary(Entrez): This gene encodes a member of the LIM/homeodomain family of transcription factors. The encoded protein binds to the enhancer region of the insulin gene, among others, and may play an important role in regulating insulin gene expression. The encoded protei
• OMIM: 600366

Protein Summary

• Protein general information: P61371  
  • Name: Insulin gene enhancer protein ISL 1 (Islet 1)
  • Length: 349  
  • Mass: 39036
  • Tissue specificity: Expressed in subsets of neurons of the adrenal medulla and dorsal root ganglion, inner nuclear and ganglion cell layers in the retina, the pineal and some regions of the brain. {ECO
• Sequence:

  MGDMGDPPKKKRLISLCVGCGNQIHDQYILRVSPDLEWHAACLKCAECNQYLDESCTCFVRDGKTYCKRDYIRLY
  GIKCAKCSIGFSKNDFVMRARSKVYHIECFRCVACSRQLIPGDEFALREDGLFCRADHDVVERASLGAGDPLSPL
  HPARPLQMAAEPISARQPALRPHVHKQPEKTTRVRTVLNEKQLHTLRTCYAANPRPDALMKEQLVEMTGLSPRVI
  RVWFQNKRCKDKKRSIMMKQLQQQQPNDKTNIQGMTGTPMVAASPERHDGGLQANPVEVQSYQPPWKVLSDFALQ
  SDIDQPAFQQLVNFSEGGPGSNSTGSEVASMSSQLPDTPNSMVASPIEA

• Structural information:
  • Protein Domains: (17..7-)
    1 (/note="LIM-zinc-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00125-)
    (79..13-)
    2 (/note="LIM-zinc-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00125"-)
  • Interpro: IPR009057  IPR017970  IPR001356  IPR001781  
  • Prosite: PS00027 PS50071 PS00478 PS50023
  • CDD: cd00086
  • STRING: ENSP00000230658
• Other Databases: GeneCards:  ISL1  Malacards:  ISL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045944	positive regulation of transcription by RNA polymerase II	IGI	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IGI	biological process
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0048665	neuron fate specification	IBA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0007409	axonogenesis	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0045597	positive regulation of cell differentiation	ISS	biological process
GO:1990841	promoter-specific chromatin binding	ISS	molecular function
GO:0007507	heart development	ISS	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1990841	promoter-specific chromatin binding	IEA	molecular function
GO:1901258	positive regulation of macrophage colony-stimulating factor production	IEA	biological process
GO:0071657	positive regulation of granulocyte colony-stimulating factor production	IEA	biological process
GO:0060913	cardiac cell fate determination	IEA	biological process
GO:0060413	atrial septum morphogenesis	IEA	biological process
GO:0060379	cardiac muscle cell myoblast differentiation	IEA	biological process
GO:0055010	ventricular cardiac muscle tissue morphogenesis	IEA	biological process
GO:0048936	peripheral nervous system neuron axonogenesis	IEA	biological process
GO:0048762	mesenchymal cell differentiation	IEA	biological process
GO:0045597	positive regulation of cell differentiation	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0043388	positive regulation of DNA binding	IEA	biological process
GO:0032755	positive regulation of interleukin-6 production	IEA	biological process
GO:0032725	positive regulation of granulocyte macrophage colony-stimulating factor production	IEA	biological process
GO:0031290	retinal ganglion cell axon guidance	IEA	biological process
GO:0021983	pituitary gland development	IEA	biological process
GO:0021559	trigeminal nerve development	IEA	biological process
GO:0021524	visceral motor neuron differentiation	IEA	biological process
GO:0021522	spinal cord motor neuron differentiation	IEA	biological process
GO:0021520	spinal cord motor neuron cell fate specification	IEA	biological process
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0003682	chromatin binding	IEA	molecular function
GO:0003148	outflow tract septum morphogenesis	IEA	biological process
GO:0050680	negative regulation of epithelial cell proliferation	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0033147	negative regulation of intracellular estrogen receptor signaling pathway	IEA	biological process
GO:0031333	negative regulation of protein-containing complex assembly	IEA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0090090	negative regulation of canonical Wnt signaling pathway	IEA	biological process
GO:0060384	innervation	IEA	biological process
GO:0060037	pharyngeal system development	IEA	biological process
GO:0050728	negative regulation of inflammatory response	IEA	biological process
GO:0048935	peripheral nervous system neuron development	IEA	biological process
GO:0048880	sensory system development	IEA	biological process
GO:0048665	neuron fate specification	IEA	biological process
GO:0048663	neuron fate commitment	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0045766	positive regulation of angiogenesis	IEA	biological process
GO:0045665	negative regulation of neuron differentiation	IEA	biological process
GO:0043524	negative regulation of neuron apoptotic process	IEA	biological process
GO:0042531	positive regulation of tyrosine phosphorylation of STAT protein	IEA	biological process
GO:0035066	positive regulation of histone acetylation	IEA	biological process
GO:0032760	positive regulation of tumor necrosis factor production	IEA	biological process
GO:0032735	positive regulation of interleukin-12 production	IEA	biological process
GO:0032731	positive regulation of interleukin-1 beta production	IEA	biological process
GO:0032730	positive regulation of interleukin-1 alpha production	IEA	biological process
GO:0032729	positive regulation of interferon-gamma production	IEA	biological process
GO:0031016	pancreas development	IEA	biological process
GO:0030182	neuron differentiation	IEA	biological process
GO:0010575	positive regulation of vascular endothelial growth factor production	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003713	transcription coactivator activity	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003266	regulation of secondary heart field cardioblast proliferation	IEA	biological process
GO:0003215	cardiac right ventricle morphogenesis	IEA	biological process
GO:0003203	endocardial cushion morphogenesis	IEA	biological process
GO:0003151	outflow tract morphogenesis	IEA	biological process
GO:0003007	heart morphogenesis	IEA	biological process
GO:0001755	neural crest cell migration	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0071385	cellular response to glucocorticoid stimulus	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0032024	positive regulation of insulin secretion	IEA	biological process
GO:0031103	axon regeneration	IEA	biological process
GO:0030331	estrogen receptor binding	IEA	molecular function
GO:0016922	nuclear receptor binding	IEA	molecular function
GO:0010718	positive regulation of epithelial to mesenchymal transition	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	molecular function
GO:0000987	cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0043425	bHLH transcription factor binding	IPI	molecular function
GO:0001102	RNA polymerase II activating transcription factor binding	IPI	molecular function
GO:0000987	cis-regulatory region sequence-specific DNA binding	NAS	molecular function
GO:0016922	nuclear receptor binding	ISS	molecular function
GO:0030331	estrogen receptor binding	ISS	molecular function
GO:0060913	cardiac cell fate determination	IDA	biological process
GO:0003139	secondary heart field specification	IMP	biological process
GO:0003148	outflow tract septum morphogenesis	ISS	biological process
GO:0021522	spinal cord motor neuron differentiation	ISS	biological process
GO:0021559	trigeminal nerve development	ISS	biological process
GO:0032725	positive regulation of granulocyte macrophage colony-stimulating factor production	ISS	biological process
GO:0032755	positive regulation of interleukin-6 production	ISS	biological process
GO:0033147	negative regulation of intracellular estrogen receptor signaling pathway	ISS	biological process
GO:0048762	mesenchymal cell differentiation	ISS	biological process
GO:0048936	peripheral nervous system neuron axonogenesis	ISS	biological process
GO:0055010	ventricular cardiac muscle tissue morphogenesis	ISS	biological process
GO:0060413	atrial septum morphogenesis	ISS	biological process
GO:0071657	positive regulation of granulocyte colony-stimulating factor production	ISS	biological process
GO:0031333	negative regulation of protein-containing complex assembly	ISS	biological process
GO:1901258	positive regulation of macrophage colony-stimulating factor production	ISS	biological process
GO:0032024	positive regulation of insulin secretion	IC	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	ISS	biological process
GO:0003151	outflow tract morphogenesis	ISS	biological process
GO:0003203	endocardial cushion morphogenesis	ISS	biological process
GO:0003215	cardiac right ventricle morphogenesis	ISS	biological process
GO:0005634	nucleus	NAS	cellular component
GO:0005737	cytoplasm	NAS	cellular component
GO:0010575	positive regulation of vascular endothelial growth factor production	ISS	biological process
GO:0031016	pancreas development	ISS	biological process
GO:0032729	positive regulation of interferon-gamma production	ISS	biological process
GO:0032730	positive regulation of interleukin-1 alpha production	ISS	biological process
GO:0032731	positive regulation of interleukin-1 beta production	ISS	biological process
GO:0032735	positive regulation of interleukin-12 production	ISS	biological process
GO:0032760	positive regulation of tumor necrosis factor production	ISS	biological process
GO:0043524	negative regulation of neuron apoptotic process	ISS	biological process
GO:0045766	positive regulation of angiogenesis	ISS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0048665	neuron fate specification	ISS	biological process
GO:0048880	sensory system development	ISS	biological process
GO:0050728	negative regulation of inflammatory response	ISS	biological process
GO:0060037	pharyngeal system development	ISS	biological process
GO:0060384	innervation	ISS	biological process
GO:0071385	cellular response to glucocorticoid stimulus	ISS	biological process
GO:0005634	nucleus	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04550	Signaling pathways regulating pluripotency of stem cells

Diseases

Associated diseases	References
type 2 diabetes mellitus	PMID:11978668
type 1 diabetes mellitus	PMID:15161765
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray