Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3670
Gene name	ISL LIM homeobox 1
Gene symbol	ISL1
Synonyms (NCBI Gene)	ISLET1Isl-1
Chromosome	5
Chromosome location	5q11.1
Summary	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

Show/Hide all (30)

miRTarBase ID	miRNA	Experiments	Reference
MIRT032141	hsa-let-7d-5p	Sequencing	20371350
MIRT438369	hsa-miR-128-3p	Luciferase reporter assay	24055866
MIRT438369	hsa-miR-128-3p	Luciferase reporter assay	24055866
MIRT438369	hsa-miR-128-3p	Luciferase reporter assay	24055866
MIRT438369	hsa-miR-128-3p	Luciferase reporter assay	24055866
MIRT623571	hsa-miR-561-3p	HITS-CLIP	23824327
MIRT623571	hsa-miR-561-3p	HITS-CLIP	23824327
MIRT1072705	hsa-miR-129-5p	CLIP-seq
MIRT1072706	hsa-miR-335	CLIP-seq
MIRT1072707	hsa-miR-374a	CLIP-seq
MIRT1072708	hsa-miR-374b	CLIP-seq
MIRT1072709	hsa-miR-450b-5p	CLIP-seq
MIRT1072710	hsa-miR-4696	CLIP-seq
MIRT1072711	hsa-miR-4775	CLIP-seq
MIRT1072712	hsa-miR-507	CLIP-seq
MIRT1072713	hsa-miR-557	CLIP-seq
MIRT1072714	hsa-miR-590-3p	CLIP-seq
MIRT2017902	hsa-miR-3613-3p	CLIP-seq
MIRT2249699	hsa-miR-132	CLIP-seq
MIRT2249700	hsa-miR-212	CLIP-seq
MIRT2249701	hsa-miR-570	CLIP-seq
MIRT2437916	hsa-miR-139-3p	CLIP-seq
MIRT2437917	hsa-miR-3121-3p	CLIP-seq
MIRT2437918	hsa-miR-3688-5p	CLIP-seq
MIRT2437919	hsa-miR-4470	CLIP-seq
MIRT2437920	hsa-miR-4474-3p	CLIP-seq
MIRT2437921	hsa-miR-4684-3p	CLIP-seq
MIRT2437922	hsa-miR-4731-3p	CLIP-seq
MIRT2437923	hsa-miR-4740-3p	CLIP-seq
MIRT2437924	hsa-miR-4801	CLIP-seq

Show/Hide all (2)

Transcription factor	Regulation	Reference
PAX4	Unknown	15161765
SOX2	Repression	20739473

147

Show/Hide all (147)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0000785	Component	Chromatin	IEA
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	19619559
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000987	Function	Cis-regulatory region sequence-specific DNA binding	IBA
GO:0001046	Function	Core promoter sequence-specific DNA binding	IEA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	19619559
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001755	Process	Neural crest cell migration	IEA
GO:0003007	Process	Heart morphogenesis	IEA
GO:0003139	Process	Secondary heart field specification	IMP	20520780
GO:0003148	Process	Outflow tract septum morphogenesis	IEA
GO:0003148	Process	Outflow tract septum morphogenesis	ISS
GO:0003151	Process	Outflow tract morphogenesis	IEA
GO:0003151	Process	Outflow tract morphogenesis	ISS
GO:0003203	Process	Endocardial cushion morphogenesis	IEA
GO:0003203	Process	Endocardial cushion morphogenesis	ISS
GO:0003215	Process	Cardiac right ventricle morphogenesis	IEA
GO:0003215	Process	Cardiac right ventricle morphogenesis	ISS
GO:0003266	Process	Regulation of secondary heart field cardioblast proliferation	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0005515	Function	Protein binding	IPI	20211142, 25416956, 28514442, 31515488, 32296183, 33961781, 36950384, 37207277
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	7907017
GO:0005667	Component	Transcription regulator complex	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	NAS	7907017
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0007409	Process	Axonogenesis	IBA
GO:0007507	Process	Heart development	IEA
GO:0007507	Process	Heart development	ISS
GO:0008283	Process	Cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010575	Process	Positive regulation of vascular endothelial growth factor production	IEA
GO:0010575	Process	Positive regulation of vascular endothelial growth factor production	ISS
GO:0010718	Process	Positive regulation of epithelial to mesenchymal transition	IEA
GO:0016922	Function	Nuclear receptor binding	IEA
GO:0016922	Function	Nuclear receptor binding	ISS
GO:0021520	Process	Spinal cord motor neuron cell fate specification	IEA
GO:0021522	Process	Spinal cord motor neuron differentiation	IEA
GO:0021522	Process	Spinal cord motor neuron differentiation	ISS
GO:0021524	Process	Visceral motor neuron differentiation	IEA
GO:0021559	Process	Trigeminal nerve development	IEA
GO:0021559	Process	Trigeminal nerve development	ISS
GO:0021983	Process	Pituitary gland development	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030182	Process	Neuron differentiation	IEA
GO:0030274	Function	LIM domain binding	IEA
GO:0030331	Function	Nuclear estrogen receptor binding	IEA
GO:0030331	Function	Nuclear estrogen receptor binding	ISS
GO:0031016	Process	Pancreas development	IEA
GO:0031016	Process	Pancreas development	ISS
GO:0031103	Process	Axon regeneration	IEA
GO:0031290	Process	Retinal ganglion cell axon guidance	IEA
GO:0031333	Process	Negative regulation of protein-containing complex assembly	IEA
GO:0031333	Process	Negative regulation of protein-containing complex assembly	ISS
GO:0032024	Process	Positive regulation of insulin secretion	IDA	19619559
GO:0032024	Process	Positive regulation of insulin secretion	IEA
GO:0032725	Process	Positive regulation of granulocyte macrophage colony-stimulating factor production	IEA
GO:0032725	Process	Positive regulation of granulocyte macrophage colony-stimulating factor production	ISS
GO:0032729	Process	Positive regulation of type II interferon production	IEA
GO:0032729	Process	Positive regulation of type II interferon production	ISS
GO:0032730	Process	Positive regulation of interleukin-1 alpha production	IEA
GO:0032730	Process	Positive regulation of interleukin-1 alpha production	ISS
GO:0032731	Process	Positive regulation of interleukin-1 beta production	IEA
GO:0032731	Process	Positive regulation of interleukin-1 beta production	ISS
GO:0032735	Process	Positive regulation of interleukin-12 production	IEA
GO:0032735	Process	Positive regulation of interleukin-12 production	ISS
GO:0032755	Process	Positive regulation of interleukin-6 production	IEA
GO:0032755	Process	Positive regulation of interleukin-6 production	ISS
GO:0032760	Process	Positive regulation of tumor necrosis factor production	IEA
GO:0032760	Process	Positive regulation of tumor necrosis factor production	ISS
GO:0033147	Process	Negative regulation of intracellular estrogen receptor signaling pathway	IEA
GO:0033147	Process	Negative regulation of intracellular estrogen receptor signaling pathway	ISS
GO:0043425	Function	BHLH transcription factor binding	IPI	16321656
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0043524	Process	Negative regulation of neuron apoptotic process	ISS
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045597	Process	Positive regulation of cell differentiation	IEA
GO:0045597	Process	Positive regulation of cell differentiation	ISS
GO:0045665	Process	Negative regulation of neuron differentiation	IEA
GO:0045766	Process	Positive regulation of angiogenesis	IEA
GO:0045766	Process	Positive regulation of angiogenesis	ISS
GO:0045880	Process	Positive regulation of smoothened signaling pathway	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IGI	23805044
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0048663	Process	Neuron fate commitment	IEA
GO:0048665	Process	Neuron fate specification	IBA
GO:0048665	Process	Neuron fate specification	IEA
GO:0048665	Process	Neuron fate specification	ISS
GO:0048762	Process	Mesenchymal cell differentiation	IEA
GO:0048762	Process	Mesenchymal cell differentiation	ISS
GO:0048863	Process	Stem cell differentiation	IEA
GO:0048880	Process	Sensory system development	IEA
GO:0048880	Process	Sensory system development	ISS
GO:0048935	Process	Peripheral nervous system neuron development	IEA
GO:0048936	Process	Peripheral nervous system neuron axonogenesis	IEA
GO:0048936	Process	Peripheral nervous system neuron axonogenesis	ISS
GO:0050680	Process	Negative regulation of epithelial cell proliferation	IEA
GO:0050728	Process	Negative regulation of inflammatory response	IEA
GO:0050728	Process	Negative regulation of inflammatory response	ISS
GO:0055010	Process	Ventricular cardiac muscle tissue morphogenesis	IEA
GO:0055010	Process	Ventricular cardiac muscle tissue morphogenesis	ISS
GO:0060037	Process	Pharyngeal system development	IEA
GO:0060037	Process	Pharyngeal system development	ISS
GO:0060070	Process	Canonical Wnt signaling pathway	IEA
GO:0060379	Process	Cardiac muscle cell myoblast differentiation	IEA
GO:0060384	Process	Innervation	IEA
GO:0060384	Process	Innervation	ISS
GO:0060413	Process	Atrial septum morphogenesis	IEA
GO:0060413	Process	Atrial septum morphogenesis	ISS
GO:0060913	Process	Cardiac cell fate determination	IDA	19571884
GO:0060913	Process	Cardiac cell fate determination	IEA
GO:0060931	Process	Sinoatrial node cell development	IEA
GO:0060931	Process	Sinoatrial node cell development	ISS
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	19619559
GO:0071385	Process	Cellular response to glucocorticoid stimulus	IEA
GO:0071385	Process	Cellular response to glucocorticoid stimulus	ISS
GO:0071560	Process	Cellular response to transforming growth factor beta stimulus	IEA
GO:0071657	Process	Positive regulation of granulocyte colony-stimulating factor production	IEA
GO:0071657	Process	Positive regulation of granulocyte colony-stimulating factor production	ISS
GO:0072201	Process	Negative regulation of mesenchymal cell proliferation	IEA
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IEA
GO:0086091	Process	Regulation of heart rate by cardiac conduction	ISS
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IEA
GO:0090280	Process	Positive regulation of calcium ion import	IEA
GO:1901258	Process	Positive regulation of macrophage colony-stimulating factor production	IEA
GO:1901258	Process	Positive regulation of macrophage colony-stimulating factor production	ISS
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IEA
GO:1990841	Function	Promoter-specific chromatin binding	IEA
GO:1990841	Function	Promoter-specific chromatin binding	ISS
GO:2000676	Process	Positive regulation of type B pancreatic cell apoptotic process	IEA

MIM	HGNC	e!Ensembl
600366	6132	ENSG00000016082

P61371

Protein name

Insulin gene enhancer protein ISL-1 (Islet-1)

Protein function

DNA-binding transcriptional activator. Recognizes and binds to the consensus octamer binding site 5'-ATAATTAA-3' in promoter of target genes. Plays a fundamental role in the gene regulatory network essential for retinal ganglion cell (RGC) diffe

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00412	LIM	17 → 75	LIM domain	Domain
PF00412	LIM	79 → 135	LIM domain	Domain
PF00046	Homeodomain	182 → 238	Homeodomain	Domain

Tissue specificity

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:0000269|PubMed:7907017}.

Sequence

MGDMGDPPKKKRLISLCVGCGNQIHDQYILRVSPDLEWHAACLKCAECNQYLDESCTCFV
RDGKTYCKRDYIRLYGIKCAKCSIGFSKNDFVMRARSKVYHIECFRCVACSRQLIPGDEF
ALREDGLFCRADHDVVERASLGAGDPLSPLHPARPLQMAAEPISARQPALRPHVHKQPEK
TTRVRTVLNEKQLHTLRTCYAANPRPDALMKEQLVEMTGLSPRVIRVWFQNKRCKDKKRS
IMMKQLQQQQPNDKTNIQGMTGTPMVAASPERHDGGLQANPVEVQSYQPPWKVLSDFALQ
SDIDQPAFQQLVNFSEGGPGSNSTGSEVASMSSQLPDTPNSMVASPIEA

Sequence length

349

Interactions

View interactions

	KEGG		Reactome
	Signaling pathways regulating pluripotency of stem cells		Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Bladder exstrophy-epispadias-cloacal extrophy complex	Uncertain significance	rs2303750, rs755382547	RCV000497649 RCV000497513
Heart, malformation of	Uncertain significance	rs1561208602	RCV000754892
ISL1-related disorder	Uncertain significance; Likely benign; Benign	rs376320342, rs746421159, rs1273919502, rs758563961, rs199961324, rs1747567535, rs200209474, rs1455600650, rs121912286, rs751441737, rs747357265, rs372177290, rs2546180403, rs376610562, rs200172777 View all (12 more)	RCV003420413 RCV004754945 RCV004754980 RCV003417024 RCV003392750 RCV003420852 RCV003393086 RCV003405939 RCV003400420 RCV003419027 RCV003410408 RCV003394347 RCV003896832 RCV003921474 RCV003921591 RCV003893744 RCV003901466 RCV003902058 RCV003977282 RCV003899691 RCV003909740 RCV003949604 RCV003944483 RCV003949106 RCV003944263 RCV003956743 RCV003968052

Show/Hide Text Mining Associations (37)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Amyotrophic Lateral Sclerosis	Stimulate	23341441
Aortic Dissection	Associate	36959563
Breast Neoplasms	Associate	27071379
Carcinoma Neuroendocrine	Associate	23503646
Carcinoma Small Cell	Associate	38538277
Central Nervous System Diseases	Associate	36791193
CHARGE Syndrome	Associate	37052590
Congenital Hyperinsulinism	Associate	34497584
Diabetic Nephropathies	Associate	31895808
Double Outlet Right Ventricle	Associate	31484864, 34260301, 35870951
Esthesioneuroblastoma Olfactory	Associate	27543867
Glioblastoma	Associate	32513296
Hearing Disorders	Associate	33476445
Heart Defects Congenital	Associate	20520780, 22480195, 31484864, 38452706
Heart Diseases	Associate	29928977
Heart Septal Defects Ventricular	Associate	30897084, 31484864, 33757570, 34260301, 35870951, 36759823
Intestinal Neoplasms	Associate	32813226
Kidney Failure Chronic	Stimulate	26138767
Lymphoma	Associate	25070240
Lymphoma Non Hodgkin	Stimulate	25070240
Neoplasms	Associate	12819026, 21739268, 23503646, 25070240, 25287138, 26332997, 27543867, 30226569, 32320655, 32813226
Neoplasms	Stimulate	38538277
Neuroblastoma	Associate	18980998, 36130928
Neuroendocrine Tumors	Associate	21739268, 27543867, 32124226, 35739266, 38538277
Non Muscle Invasive Bladder Neoplasms	Associate	26332997
Nonsyndromic Holoprosencephaly	Associate	20520780
Obesity	Associate	32153512
Odontogenic Tumors	Associate	36344906
Otitis Media	Associate	33476445
Otitis Media with Effusion	Associate	33476445
Ovarian Neoplasms	Associate	39513463
Pancreatic Neoplasms	Inhibit	23503646
Pancreatitis	Associate	33198821
Small Cell Lung Carcinoma	Associate	38538277
Tetralogy of Fallot	Associate	24400131, 36830727
Triple Negative Breast Neoplasms	Stimulate	27071379, 30226569
Urinary Bladder Neoplasms	Associate	26332997

ISL1 (ISL LIM homeobox 1)