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

Gene Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	3670
Gene name Gene Name - the full gene name approved by the HGNC.	ISL LIM homeobox 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ISL1
Synonyms (NCBI Gene) Gene synonyms aliases	ISLET1, Isl-1
Chromosome Chromosome number	5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	5q11.1
Summary Summary of gene provided in NCBI Entrez Gene.	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

Transcription factors

Show/Hide all(2)

Transcription factor	Regulation	Reference
PAX4	Unknown	15161765
SOX2	Repression	20739473

Show/Hide all(81)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0000785	Component	Chromatin	ISA
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	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	19619559
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000987	Function	Cis-regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000987	Function	Cis-regulatory region sequence-specific DNA binding	IDA	19619559
GO:0000987	Function	Cis-regulatory region sequence-specific DNA binding	NAS	7789634
GO:0001102	Function	RNA polymerase II activating transcription factor binding	IPI	19619559
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001755	Process	Neural crest cell migration	IEA
GO:0003139	Process	Secondary heart field specification	IMP	20520780
GO:0003148	Process	Outflow tract septum morphogenesis	ISS
GO:0003151	Process	Outflow tract morphogenesis	ISS
GO:0003203	Process	Endocardial cushion morphogenesis	ISS
GO:0003215	Process	Cardiac right ventricle morphogenesis	ISS
GO:0003266	Process	Regulation of secondary heart field cardioblast proliferation	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 31515488, 32296183
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	NAS	7907017
GO:0005737	Component	Cytoplasm	NAS	7907017
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0007409	Process	Axonogenesis	IBA	21873635
GO:0007507	Process	Heart development	ISS
GO:0008284	Process	Positive regulation of cell population proliferation	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	ISS
GO:0021520	Process	Spinal cord motor neuron cell fate specification	IEA
GO:0021522	Process	Spinal cord motor neuron differentiation	ISS
GO:0021524	Process	Visceral motor neuron differentiation	IEA
GO:0021559	Process	Trigeminal nerve development	ISS
GO:0021983	Process	Pituitary gland development	IEA
GO:0030331	Function	Estrogen receptor binding	ISS
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	ISS
GO:0032024	Process	Positive regulation of insulin secretion	IC	19619559
GO:0032725	Process	Positive regulation of granulocyte macrophage colony-stimulating factor production	ISS
GO:0032729	Process	Positive regulation of interferon-gamma production	ISS
GO:0032730	Process	Positive regulation of interleukin-1 alpha production	ISS
GO:0032731	Process	Positive regulation of interleukin-1 beta production	ISS
GO:0032735	Process	Positive regulation of interleukin-12 production	ISS
GO:0032755	Process	Positive regulation of interleukin-6 production	ISS
GO:0032760	Process	Positive regulation of tumor necrosis factor production	ISS
GO:0033147	Process	Negative regulation of intracellular estrogen receptor signaling pathway	ISS
GO:0035066	Process	Positive regulation of histone acetylation	IEA
GO:0042531	Process	Positive regulation of tyrosine phosphorylation of STAT protein	IEA
GO:0043388	Process	Positive regulation of DNA binding	IEA
GO:0043425	Function	BHLH transcription factor binding	IPI	16321656
GO:0043524	Process	Negative regulation of neuron apoptotic process	ISS
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	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA	21873635
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:0048665	Process	Neuron fate specification	IBA	21873635
GO:0048665	Process	Neuron fate specification	ISS
GO:0048762	Process	Mesenchymal cell differentiation	ISS
GO:0048880	Process	Sensory system development	ISS
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	ISS
GO:0055010	Process	Ventricular cardiac muscle tissue morphogenesis	ISS
GO:0060037	Process	Pharyngeal system development	ISS
GO:0060379	Process	Cardiac muscle cell myoblast differentiation	IEA
GO:0060384	Process	Innervation	ISS
GO:0060413	Process	Atrial septum morphogenesis	ISS
GO:0060913	Process	Cardiac cell fate determination	IDA	19571884
GO:0060931	Process	Sinoatrial node cell development	ISS
GO:0071385	Process	Cellular response to glucocorticoid stimulus	ISS
GO:0071657	Process	Positive regulation of granulocyte colony-stimulating factor production	ISS
GO:0086091	Process	Regulation of heart rate by cardiac conduction	ISS
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	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:1990841	Function	Promoter-specific chromatin binding	ISS

MIM	HGNC	e!Ensembl
600366	6132	ENSG00000016082

Protein

UniProt ID

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 Causal Diseases (2)

Disease term	Disease name	dbSNP ID	References
Causal
Neuroblastoma	Neuroblastoma	rs113994087, rs113994089, rs281864719, rs863225285, rs863225284, rs863225283, rs281864720, rs863225282, rs863225281, rs1057519698, rs915983602, rs1469271544	30127528
Vesicoureteral reflux	Vesico-Ureteral Reflux	rs587777684, rs148731211

Show/Hide Unknown Diseases (3)

Disease term	Disease name	References	Source
Unknown
Bladder exstrophy	Bladder Exstrophy, Bladder exstrophy	25763902	ClinVar
Barrett esophagus	Barrett esophagus		GWAS
Insomnia	Insomnia		GWAS

Show/Hide Text Mining Associations (37)

Disease Name	Relationship Type	References
Associations from Text Mining
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)