ISL1 - ISL LIM homeobox 1 Gene

Also Known as Isl-1; ISLET1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3670

About ISL1

Cytogenetic location: 5q11.1 Genomic coordinates (GRCh38): 5:51,383,448-51,394,730 (from NCBI)

This gene has 3 transcripts (splice variants), 209 orthologues, 1 paralogue and is associated with 1 phenotype. Biased expression in prostate (RPKM 3.8), stomach (RPKM 3.1) and 9 other tissues.

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 protein is central to the development of pancreatic cell lineages and may also be required for motor neuron generation. Mutations in this gene have been associated with maturity-onset diabetes of the young. [provided by RefSeq, Jul 2008]

ISL1 Products (1)

mRNA	Protein	Name
NM_002202.3	NP_002193.2	insulin gene enhancer protein ISL-1

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	19619559	GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	19619559	GOA
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI IPI: Inferred from physical interaction	19619559	GOA
enables bHLH transcription factor binding	IPI IPI: Inferred from physical interaction	16321656	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	20211142	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cardiac cell fate determination	IDA IDA: Inferred from direct assay	19571884	GOA
involved in positive regulation of insulin secretion	IDA IDA: Inferred from direct assay	19619559	GOA
involved in positive regulation of transcription by RNA polymerase II	IGI IGI: Inferred from genetic interaction	23805044	GOA
involved in secondary heart field specification	IMP IMP: Inferred from mutant phenotype	20520780	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ISL1 Protein Structure

LIM

Homeobox

0
100
200
300
349 a.a.

Protein Preferred Names	Protein Names
insulin gene enhancer protein ISL-1	islet-1

ISL1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ISL1	P61371	ZNF511	Homo sapiens	Q8NB15	Validated Y2H	32296183
Intra	ISL1	P61371	ZNF511	Homo sapiens	Q8NB15	Y2H Array	31515488
Intra	ISL1	P61371	LDB1	Homo sapiens	Q86U70-2	Validated Y2H	32296183
Intra	ISL1	P61371	LHX4	Homo sapiens	Q969G2	Y2H Array	31515488
Intra	ISL1	P61371	LHX4	Homo sapiens	Q969G2	Y2H Array	20211142
Intra	ISL1	P61371	SSBP4	Homo sapiens	Q9BWG4	Y2H Array	20211142

Cross: Cross-species interaction Intra: Intraspecies interaction

ISL1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81499	Islet 1 Antibody (YA1244)	WB, IHC-P, IHC-F, ICC/IF, IP, FC	Human, Mouse, Rat, Monkey, Pig
HY-P84424	Islet 1 Antibody (YA4121)	IHC-P, ICC/IF, ELISA	Human, Mouse, Rat, Rabbit
HY-P84424A	Islet 1 Antibody (YA4121)(PBS only)	IHC-P, ICC/IF, ELISA	Human, Mouse, Rat, Rabbit
HY-P85233	Islet 1 Antibody (YA4925)	WB; ICC/IF; IP; IHC-P; IHC-F; IF-Tissue	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Bladder Exstrophy	Exstrophy Of The Bladder Classic Exstrophy Of The Bladder
Double Outlet Right Ventricle	Double Outlet Right Ventricle With Subpulmonary Ventricular Septal Defect Taussig-Bing Syndrome Dextrotransposition Of Aorta Taussig-Bing Syndrome Or Defect Dorv Dorv With Subpulmonary Vsd Dorv-Tga Double Outlet Right Ventricle With Transposition Of The Great Arteries Double Outlet Right Ventricle With Subpulmonary Interventricular Communication, Transposition Type Taussig-Bing Heart Taussig-Bing Malformation Taussig-Bing Complex Taussig-Bing Defect Taussig-Bing Double Outlet Right Ventricle With Remote Ventricular Septal Defect Double Outlet Right Ventricle With Uncommitted Ventricular Septal Defect Double Outlet Right Ventricle With Non-Committed Interventricular Communication Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication Without Pulmonary Stenosis Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication And Pulmonary Stenosis
Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex	Exstrophy-Epispadias Complex Bladder Exstrophy-Epispadias-Cloacal Extrophy Complex Beec Eec Exstrophy Of The Bladder Bladder Exstrophy Bladder Exstrophy And Epispadias Complex
Maturity-Onset Diabetes Of The Young	MODY Maturity Onset Diabetes Mellitus In Young Mason-Type Diabetes Mason Type Diabetes Maturity Onset Diabetes Of The Young Mody Syndrome Diabetes Of The Young, Maturity-Onset
Tetralogy Of Fallot	TOF Fallot Tetralogy Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle Tetrad Of Fallot Fallot Tetrad Fallot Disease Fallot Complex Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle Interventricular Septal Defect, In Tetralogy Of Fallot Ventricular Septal Defect With Obstructed Right Ventricular Outflow Tof - [Tetralogy Of Fallot] Pulmonary Atresia With Ventricular Septal Defect [Fallot Type] Pulmonary Atresia, Ventricular Septal Defect And Mapcas Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]
Aortic Valve Disease 1	Aortic Valve Disease Bicuspid Aortic Valve Aortic Valve Disorder AOVD1 Bav Bicuspid Aortic Valve Disease Familial Bicuspid Aortic Valve Aortic Valve Calcification Aovd Aortic Valve, Bicuspid Aortic Valve, Calcification Of Aortic Stenosis, Calcific Familial Bav Calcific Aortic Stenosis Calcification Of Aortic Valve Abnormality Of The Aortic Valve Aortic Valve Disease, Type 1 Aortic Valve Disease 2 Bicommissural Aortic Valve
Heart Septal Defect	Septal Defect Heart Septal Defects Cardiac Septal Defects Congenital Septal Defect Of Heart
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6	CMTX6 Charcot-Marie-Tooth Disease X-Linked Dominant 6 Cmt6x X-Linked Charcot-Marie-Tooth Disease Type 6 Charcot-Marie-Tooth Neuropathy, X-Linked Dominant, 6 Charcot-Marie-Tooth Neuropathy X-Linked Dominant 6 Charcot-Marie-Tooth Neuropathy X-Linked 6 Charcot-Marie-Tooth Disease, X-Linked, Type 6
Atrioventricular Septal Defect	AVSD Atrioventricular Canal Defect Avcd Endocardial Cushion Defect Ecd Avc Defect Atrioventricular Septal Defect, Susceptibility To, 1 Atrioventricular Septal Defect 1 Endocardial Cushion Defects Septal Defect, Atrioventricular Atrioventricular Defect With Atrial Shunting Only Incomplete Atrioventricular Septal Defect With Isolated Atrial Component Incomplete Atrioventricular Canal Defect With Isolated Atrial Component Primum Atrial Septal Defect Partial Atrioventricular Canal Defect With Isolated Atrial Component Partial Atrioventricular Septal Defect, Ostium Primum Type Ostium Primum Atrial Septal Defect Partial Atrioventricular Canal Defect Partial Atrioventricular Septal Defect Atrial Septum Primum Defect Atrioventricular Canal Defect With Isolated Ventricular Component Atrioventricular Canal Defect With Isolated Ventricular Communication Atrioventricular Septal Defect With Isolated Ventricular Component Atrioventricular Septal Defect With Atrial Shunting And Restrictive Ventricular Shunting Intermediate Atrioventricular Canal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valve Transitional Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valves Atrioventricular Canal Defect Associated With A Restrictive Ventricular Septal Defect Intermediate Atrioventricular Canal Defect Intermediate Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valvar Orifices Intermediate Atrioventricular Septal Defect Transitional Atrioventricular Canal Defect Transitional Atrioventricular Septal Defect Complete Atrioventricular Canal With Atrial And Ventricular Components Complete Atrioventricular Canal Defect Complete Atrioventricular Septal Defect
Sacral Defect With Anterior Meningocele	Caudal Regression Syndrome Caudal Regression Sequence Sacral Agenesis Caudal Dysgenesis Syndrome SDAM Caudal Dysplasia Sequence Caudal Dysplasia Sacral Agenesis Syndrome Sacral Regression Syndrome Sacral Defect And Anterior Sacral Meningocele Rudd Klimek Syndrome Sirenomelia
Tricuspid Atresia	Congenital Agenesis Of The Tricuspid Valve
Ventricular Septal Defect	Ventricular Septal Defects Interventricular Septal Defect Heart Septal Defects, Ventricular Ventricular Septal Abnormality Interventricular Septum Defect Ventricular Septum Defect Vsd - [Ventricular Septum Defect] Congenital Ventricular Septal Defect Single Ventricular Septal Defect
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Familial Dysautonomia Riley-Day Syndrome Dysautonomia, Familial HSAN3 Hsan Iii Fd Hereditary Sensory And Autonomic Neuropathy Type Iii Dys Hereditary Sensory And Autonomic Neuropathy 3 Riley Day Syndrome Familial Autonomic Nervous Dysfunction Hereditary Sensory Autonomic Neuropathy Type Iii Hsan 3 Hsn 3 Hereditary Sensory Neuropathy Type 3 Hsan Type Iii Hsn-Iii Hereditary Sensory And Autonomic Neuropathy Type 3 Neuropathy, Hereditary Sensory And Autonomic, 3 Hsn Iii Dysautonomia Familial Neuropathy, Sensory And Autonomic, Hereditary, Type Iii Hsan3 - [Hereditary Sensory And Autonomic Neuropathy Type 3]
Hypoplastic Left Heart Syndrome	Hlhs Heart, Hypoplastic Left, Syndrome Hypoplasia Of The Left Heart Left Heart Hypoplasia Syndrome Hlhs - [Hypoplastic Left Heart Syndrome] Hypoplasia Of Aortic Valve, In Hypoplastic Left Heart Syndrome Atresia Of Mitral Valve, In Hypoplastic Left Heart Syndrome Atresia Or Marked Hypoplasia Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle Atresia Or Marked Hypoplasia, Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle With Mitral Valve Atresia Aortic Valve Atresia, In Hypoplastic Left Heart Syndrome Ascending Aorta Hypoplasia, In Hypoplastic Left Heart Syndrome
Germ Cell And Embryonal Cancer	Germ Cell And Embryonal Neoplasm
Atrial Heart Septal Defect	Atrial Septal Defect Atrial Septal Defects Atrioseptal Defect Auricular Septal Defect Congenital Atrial Septal Defect Interatrial Septal Defect Interauricular Septal Defect Heart Septal Defects, Atrial Septal Defect, Atrial
Neural Tube Defects	Spina Bifida Neural Tube Defect NTD Neural Tube Defects, Susceptibility To Spinal Dysraphism Spina Bifida, Susceptibility To Rachischisis Cleft Spine Open Spine Hydrocele Spinalis Neural Tube Defect Nos Sb - [Spina Bifida] Spinal Hernia Nos Spinal Fissure Nos
Physical Disorder	Physical Illness
Transposition Of The Great Arteries, Dextro-Looped	Transposition Of The Great Arteries DTGA1 Dextro-Looped Transposition Of The Great Arteries DTGA Congenitally Uncorrected Transposition Of The Great Arteries Congenitally Uncorrected Transposition Of The Great Vessels D-Tga Isolated Ventriculoarterial Discordance Ventriculoarterial Discordance With Atrioventricular Concordance Dextro-Transposition Of The Great Arteries Transposition Of The Great Vessels Great Vessels Transposition Transposition Of The Great Arteries, Dextro-Looped 1 Arteries, Great, Transposition, Dextro-Looped Ventriculoarterial Discordance, Isolated D-Transposition Of The Great Arteries Complete Transposition Tga Tgv Transposition Of Great Vessels Transposition Of The Great Arteries Dextro-Looped 1 Dextro-Looped Transposition Of The Great Arteries 1 Discordant Ventriculoarterial Connection Complete Transposition Of Great Vessels Great Vessels Complete Transposition Total Great Vessel Transposition Transposition Of Great Arteries Complete Tga - [Transposition Of The Great Arteries] Tga - [Transposition Of Great Arteries] Tgv - [Transposition Of Great Vessels] Transposition Of Great Vessels Nos Transposed Vessels Nos
Lipoprotein Quantitative Trait Locus	Coronary Artery Disease Coronary Artery Anomaly Coronary Artery Disease, Susceptibility To Myocardial Ischemia Congenital Anomaly Of Coronary Artery Coronary Arteriosclerosis Coronary Disease Coronary Heart Disease Coronary Artery Disorder LPAQTL Lpa Deficiency, Congenital Coronary Artery Abnormality Coronary Artery Anomaly, Congenital Chd Coronary Syndrome Congenital Malformations Of Coronary Vessels Malformation Of Coronary Vessels Congenital Coronary Artery Anomaly Congenital Coronary Artery Deformity Congenital Coronary Artery Disorder Abnormal Coronary Artery Congenital Coronary Artery Malposition Congenital Coronary Disease Congenital Anomaly Of Coronary Arteries
Heart Disease	Heart Failure Congenital Heart Disease Heart Diseases Congenital Heart Defects Congenital Heart Defect Heart Malformation Congenital Anomaly Of Heart Heart Defect Heart-Congenital Defect Congenital Heart Disorder Heart Defects Congenital Heart Defects, Congenital Heart Defects Heart Disease, Congenital Disease, Heart, Congenital Congestive Heart Failure
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy
Amyotrophic Lateral Sclerosis 1	Amyotrophic Lateral Sclerosis ALS Lou Gehrig Disease Amyotrophic Lateral Sclerosis Type 1 Charcot Disease ALS1 Amyotrophic Lateral Sclerosis, Susceptibility To Fals Lou Gehrig'S Disease Mnd Motor Neuron Disease Familial Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis 1, Familial Amyotrophic Lateral Sclerosis 1, Autosomal Dominant Motor Neuron Disease, Bulbar Motor Neurone Disease Amyotrophic Lateral Sclerosis With Dementia Dementia With Amyotrophic Lateral Sclerosis Motor Neuron Disease, Amyotrophic Lateral Sclerosis Sclerosis, Lateral, Amyotrophic Sclerosis, Lateral, Amyotrophic, Type 1 Amyotrophic Sclerosis Als - [Amyotrophic Lateral Sclerosis] Wasting Palsy Amyotrophic Paralysis Amyotrophy Lateral Sclerosis Wasting Paralysis Spinal Progressive Amyotrophy Progressive Atrophic Paralysis
Type 2 Diabetes Mellitus	Insulin Resistance NIDDM Type 2 Diabetes Diabetes Mellitus, Non-Insulin-Dependent T2D Noninsulin-Dependent Diabetes Mellitus Diabetes Mellitus, Type Ii Maturity-Onset Diabetes Insulin Resistance, Severe, Digenic Diabetes Mellitus, Type 2 Diabetes Mellitus, Noninsulin-Dependent Diabetes Mellitus, Noninsulin-Dependent, Association With Diabetes Mellitus, Noninsulin-Dependent, Late Onset Hypertension, Insulin Resistance-Related, Susceptibility To Insulin Resistance, Susceptibility To Non-Insulin-Dependent Diabetes Mellitus Type Ii Diabetes Mellitus Adult-Onset Diabetes Mellitus Maturity-Onset Diabetes Mellitus Diabetes Mellitus Type 2 Type Ii Diabetes Type 2 Diabetes Mellitus, Susceptibility To Diabetes, Type 2 Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To Diabetes Mellitus, Type 2, Susceptibility To Diabetes Mellitus, Noninsulin-Dependent, 2 Diabetes Mellitus, Type Ii, Susceptibility To Hypertension, Insulin Resistance-Related Adult-Onset Diabetes Aodm Diabetes Mellitus, Adult-Onset Diabetes Mellitus Type Ii Diabetes Mellitus Type 2, Susceptibility To Diabetes, Type Ii, Susceptibility To Diabetes Type 2 Diabetes Mellitus Adult Onset Diabetes Maturity Onset Diabetes Nonketotic Diabetes Non-Insulin Dependent Diabetes Mellitus T2dm - [Type 2 Diabetes Mellitus] Niddm - [Non Insulin Dependent Diabetes Mellitus] Dm2 Dm Type Ii Diabetic Type 2 Insulin Requiring Type 2 Diabetes Noninsulin Dependent Diabetes Non-Insulin-Dependent Diabetes Mellitus Without Complications Diabetes Due To Insulin Secretory Defect Diabetes Mellitus Due To Insulin Secretory Defect Non-Insulin-Dependent Diabetes Of The Young Senile Diabetes Nonketotic Hyperglycaemia Stable Diabetes
Dilated Cardiomyopathy	Familial Dilated Cardiomyopathy Primary Dilated Cardiomyopathy Idiopathic Dilated Cardiomyopathy Congestive Cardiomyopathy Idiopathic Dilation Cardiomyopathy Primary Familial Dilated Cardiomyopathy Cardiomyopathy, Dilated DCM Cardiomyopathy, Familial Dilated Dilated Cardiomyopathy, Familial Hypokinetic Dilated Cardiomyopathy, Familial Familial Idiopathic Cardiomyopathy Fdc Cardiomyopathy, Familial Idiopathic Idiopathic Cardiomegaly Dilated Congestive Cardiomyopathy Chronic Dilated Cardiomyopathy Ccm - [Congestive Cardiomyopathy] Cocm - [Congestive Cardiomyopathy] Dcm - [Dilated Cardiomyopathy] Dilated-Hypokinetic Cardiomyopathy Congestive Idiopathic Cardiomyopathy Primary Idiopathic Dilated Cardiomyopathy
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06931	ISL1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-174594	Human ISL1 mRNA		/	Unkown
HY-RS18481	Isl1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24962	Isl1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	ISL1	VGNC	VGNC:30296
Mus musculus	ISL1	MGD	MGI:101791
Macaca mulatta	ISL1	VGNC	VGNC:73770
Canis familiaris	ISL1	VGNC	VGNC:42109
Felis catus	ISL1	VGNC	VGNC:67834
Rattus norvegicus	ISL1	RGD	RGD:61957
Others	ISL1	NCBI