Property Summary

NCBI Gene PubMed Count 63
PubMed Score 391.42
PubTator Score 152.70

Knowledge Summary


No data available


  Differential Expression (8)

Disease log2 FC p
urothelial carcinoma -2.800 1.2e-08
malignant mesothelioma 1.700 1.7e-05
medulloblastoma, large-cell 3.100 1.5e-05
primitive neuroectodermal tumor 3.400 1.3e-02
lung cancer 4.600 4.9e-06
interstitial cystitis -3.200 7.8e-06
cystic fibrosis -1.200 1.5e-03
ovarian cancer -2.600 4.8e-07

Gene RIF (46)

26495868 SSBP3 Interacts With Islet-1 and Ldb1 to Impact Pancreatic beta-Cell Target Genes
26332997 Concurrent ISL1/HOXA9 methylation in HG-NMIBC reliably predicted tumour recurrence and progression within one year (Positive Predictive Value 91.7%), and was associated with disease-specific mortality
26142548 Suggest that ISL-1 may be a useful prognostic biomarker and may represent a novel therapeutic target for gastric adenocarcinoma.
25763902 The present study identified the first genome-wide significant locus for classic bladder exstrophy at chromosomal region 5q11.1, and provides strong evidence for the hypothesis that ISL1 is the responsible candidate gene in this region.
25524439 Isl1 overexpression in embryonic stem cells results in normal electrophysiologically functioning cells.
25070240 ISL-1 is tightly linked to non-Hodgkin lymphoma proliferation and development by promoting c-Myc transcription, and its aberrant expression was regulated by p-STAT3/p-c-Jun/ISL-1 complex activation.
25015099 Tcf7l2 is regulating proinsulin expression directly via Isl1, Ins1 and indirectly via MafA, NeuroD1 and Pdx1.
24845569 these results demonstrate a positive feedback regulation of ISL-1 in diffuse large B cell lymphoma but not in pancreatic beta-cells, which might result in the functional diversities of ISL-1 in different physiological and pathological processes.
24751901 ISL1 is commonly expressed in rhabdomyosarcoma, particularly the alveolar subtype
24674670 This study demonstrates that the Isl1-Gata3 transcription regulatory axis is essential for normal pyloric development.
24634231 Results suggest that rs1017 ISL1 contributed to the risk of Congenital heart disease (CHD) in Chinese Han people, and the gene may be involved in the formation and development of the heart.
24578274 Overexpression of ISL1 in human mesnchymal stem cells promotes angiogenesis in vitro and in vivo through increasing secretion of MCP3 and other paracrine factors.
24131831 Haplotype TT of ISL1 may increase the risk of congenital heart disease (CHD)in Tianjin Han children.
24037217 We have demonstrated that Islet 1 and PAX8 are not entirely specific for neuroendocrine tumors of pancreatic origin, as they are expressed in a majority of rectal neuroendocrine tumors.
24018375 Overexpression of VEGF-A promotes not only the endothelial specification but also engraftment, proliferation and survival (reduced apoptosis) of the human Isl1+ progenitors in vivo.
23572340 The findings suggest that ISL1 genetic polymorphisms are associated with occurrence of VSD, thus they may be useful as molecular markers for prediction of VSD.
23503646 findings modify the role of ISL1 as a marker for pancreatic neuroendocrine neoplasms and suggest that ISL1 has a broader involvement in differentiation and growth of neuroendocrine neoplasms than has so far been assumed.
23436614 The methylation status of Homeobox A9 (HOXA9), ISL LIM homeobox 1 (ISL1) and Aldehyde dehydrogenase 1 family, member A3 (ALDH1A3) was significantly associated with decreased gene expression levels
23348208 Our findings confirm that Isl1 is a sensitive marker of pancreatic origin in cases of metastatic neuroendocrine neoplasms .
23229290 ISL1 common variant rs1017 is not associated with increased genetic risk of CHD in the white population.
23152444 This study describes a new gain-of-function p.Asn252Ser variant in the human ISL1 gene, which could potentially lead to greater activation of downstream targets involved in cardiac development, dilation, and hypertrophy.
22480195 This is the first study which indicates that ISL1 common variant rs1017 may not play a role in sporadic CHD susceptibility in the Chinese population.
22388755 Both Islet 1 and PAX8 are reliable immunohistochemical markers for identifying metastatic neuroendocrine tumors of pancreatic origin.
22303449 The relationship between human ISL1 and FGF10 within the embryonic time window during which the linear heart tube remodels into four chambers, was examined.
22194342 This study establishes ISL1 as a novel transcriptional regulator of LHX3 and describes a potential mechanism for regulation by PITX1.
21739268 Gastrin-positive neuroendocrine tumors, whether of duodenal or pancreatic origin, frequently expressed PDX1 (17/18), ISL1 (14/18), and NGN3 (14/18).
21060249 Data indicate that, despite the relevant role of ISL1 in thyroid and heart morphogenesis, mutations in its coding region are not associated with TD in our group of patients.
21060249 Observational study of gene-disease association. (HuGE Navigator)
20807224 Observational study of gene-disease association. (HuGE Navigator)
20520780 Two different ISL1 haplotypes contribute to risk of congenital heart disease in white and black/African American populations.
20520780 Observational study of gene-disease association. (HuGE Navigator)
20306291 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19896915 early first trimester human embryonic heart expresses clusters of Isl1(+)cells, some of which differentiate into cardiomyocytes.
19619559 These results suggest that ISL1 is a transcriptional activator for insulin gene expression, and the interactions of ISL1 with BETA2 are required for the transcriptional activity of the insulin gene.
19571884 purified ISL1(+) primordial progenitors are capable of self-renewal and expansion before differentiation into the three major cell types in the heart
18583962 Although the LIM interaction domain of Ldb1 (Ldb1(LID)) and Isl1(LBD) share low levels of sequence homology, X-ray and NMR structures reveal that they bind Lhx3 in an identical manner, that is, Isl1(LBD) mimics Ldb1(LID).
18454440 Observational study of gene-disease association. (HuGE Navigator)
18239644 An important developmental and regulatory gene ISL1 is uniquely expressed in visceral fat, probably in the preadipocyte. ISL1 may be regulated by adiposity.
18081024 Observational study of gene-disease association. (HuGE Navigator)
17519333 beta-catenin signaling regulates proliferation and survival of cardiac progenitors
17363077 Sudy illustrated that GPA2 is positively regulated by isl-1, suggesting that this protein associates with endocrine systems including the pituitary and pancreas.
17022998 Isl1 could enhance the HNF4alpha-mediated activation of transcription of the HNF1alpha, PPARalpha and insulin I promoters
16873704 Observational study of gene-disease association. (HuGE Navigator)
16713999 cultured pancreatic islets contain nestin and Isl-1 positive mesenchymal stem cells with multipotential developmental capacity
16321656 we demonstrated that ISL1 and BETA2 could activate insulin gene transcription synergistically.
15161765 Seven single nucleotide polymorphisms (SNPs) and one microsatellite in noncoding regions of ISL1 GENE. Four haplotypes formed by six of these SNPs and one microsatellite were associated with type 1 diabetes in Swedish families.

AA Sequence


Text Mined References (64)

PMID Year Title
26495868 2015 SSBP3 Interacts With Islet-1 and Ldb1 to Impact Pancreatic ?-Cell Target Genes.
26332997 2015 Methylation of HOXA9 and ISL1 Predicts Patient Outcome in High-Grade Non-Invasive Bladder Cancer.
26142548 2015 An abnormally high expression of ISL-1 represents a potential prognostic factor in gastric cancer.
25763902 2015 Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy.
25524439 2015 Direct nkx2-5 transcriptional repression of isl1 controls cardiomyocyte subtype identity.
25416956 2014 A proteome-scale map of the human interactome network.
25070240 2014 ISL-1 is overexpressed in non-Hodgkin lymphoma and promotes lymphoma cell proliferation by forming a p-STAT3/p-c-Jun/ISL-1 complex.
25015099 2014 TCF7L2 is a master regulator of insulin production and processing.
24845569 2014 A positive feedback regulation of ISL-1 in DLBCL but not in pancreatic ?-cells.
24751901 2014 Expression of the LIM homeobox domain transcription factor ISL1 (Islet-1) is frequent in rhabdomyosarcoma but very limited in other soft tissue sarcoma types.
24674670 2014 LIM homeodomain transcription factor Isl1 directs normal pyloric development by targeting Gata3.
24634231 2014 Genetic variations of ISL1 associated with human congenital heart disease in Chinese Han people.
24578274 2014 Islet-1 overexpression in human mesenchymal stem cells promotes vascularization through monocyte chemoattractant protein-3.
24131831 2013 [Association between two SNPs of ISL1 gene and congenital heart disease in children].
24037217 2013 The immunohistochemical expression of islet 1 and PAX8 by rectal neuroendocrine tumors should be taken into account in the differential diagnosis of metastatic neuroendocrine tumors of unknown primary origin.
24018375 2013 Driving vascular endothelial cell fate of human multipotent Isl1+ heart progenitors with VEGF modified mRNA.
23805044 2013 RIT2, a neuron-specific small guanosine triphosphatase, is expressed in retinal neuronal cells and its promoter is modulated by the POU4 transcription factors.
23572340 2013 Association between ISL1 variants and susceptibility to ventricular septal defect in a Chinese cohort.
23503646 2013 ISL1 expression is not restricted to pancreatic well-differentiated neuroendocrine neoplasms, but is also commonly found in well and poorly differentiated neuroendocrine neoplasms of extrapancreatic origin.
23436614 2013 HOXA9, ISL1 and ALDH1A3 methylation patterns as prognostic markers for nonmuscle invasive bladder cancer: array-based DNA methylation and expression profiling.
23348208 2013 Islet-1 is a sensitive but not entirely specific marker for pancreatic neuroendocrine neoplasms and their metastases.
23259602 2012 Genome-wide association scan of dental caries in the permanent dentition.
23229290 2013 Lack of association of the 3'-UTR polymorphism (rs1017) in the ISL1 gene and risk of congenital heart disease in the white population.
23152444 2013 A novel genetic variant in the transcription factor Islet-1 exerts gain of function on myocyte enhancer factor 2C promoter activity.
22480195 2012 ISL1 common variant rs1017 is not associated with susceptibility to congenital heart disease in a Chinese population.
22388755 2012 Value of Islet 1 and PAX8 in identifying metastatic neuroendocrine tumors of pancreatic origin.
22303449 2012 ISL1 directly regulates FGF10 transcription during human cardiac outflow formation.
22194342 2012 A distal modular enhancer complex acts to control pituitary- and nervous system-specific expression of the LHX3 regulatory gene.
21739268 2011 Hormonally defined pancreatic and duodenal neuroendocrine tumors differ in their transcription factor signatures: expression of ISL1, PDX1, NGN3, and CDX2.
21060249 Screening for mutations in the ISL1 gene in patients with thyroid dysgenesis.
20807224 2011 New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle.
20520780 2010 Common variation in ISL1 confers genetic susceptibility for human congenital heart disease.
20306291 2010 A three-stage genome-wide association study of general cognitive ability: hunting the small effects.
19896915 2010 Early first trimester human embryonic cardiac Islet-1 progenitor cells and cardiomyocytes: Immunohistochemical and electrophysiological characterization.
19619559 2009 The LIM-homeodomain protein ISL1 activates insulin gene promoter directly through synergy with BETA2.
19571884 2009 Human ISL1 heart progenitors generate diverse multipotent cardiovascular cell lineages.
18583962 2008 Implementing the LIM code: the structural basis for cell type-specific assembly of LIM-homeodomain complexes.
18454440 2009 Chromosome 5 and Gilles de la Tourette syndrome: Linkage in a large pedigree and association study of six candidates in the region.
18239644 2008 Islet-1: a potentially important role for an islet cell gene in visceral fat.
18088087 2008 Phosphoproteome of resting human platelets.
18081024 2008 Association study for genes at chromosome 5p13-q11 in attention deficit hyperactivity disorder.
17519333 2007 Beta-catenin directly regulates Islet1 expression in cardiovascular progenitors and is required for multiple aspects of cardiogenesis.
17363077 2007 The LIM domain homeobox gene isl-1 is a positive regulator of glycoprotein alpha 2 (GPA2), a subunit of thyrostimulin.
17022998 2006 Hepatocyte nuclear factor 4 alpha ligand binding and F domains mediate interaction and transcriptional synergy with the pancreatic islet LIM HD transcription factor Isl1.
16873704 2006 Association studies of variants in the genes involved in pancreatic beta-cell function in type 2 diabetes in Japanese subjects.
16713999 2006 Multipotential nestin and Isl-1 positive mesenchymal stem cells isolated from human pancreatic islets.
16321656 2005 ISL1 physically interacts with BETA2 to promote insulin gene transcriptional synergy in non-beta cells.
15843409 2005 Tbx20 dose-dependently regulates transcription factor networks required for mouse heart and motoneuron development.
15839736 2005 Differentiation of insulin-producing cells from human neural progenitor cells.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15161765 2004 Interaction and association analysis of a type 1 diabetes susceptibility locus on chromosome 5q11-q13 and the 7q32 chromosomal region in Scandinavian families.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11882901 2002 Ubiquitination-dependent cofactor exchange on LIM homeodomain transcription factors.
11043578 2000 The LIM/homeodomain protein islet-1 modulates estrogen receptor functions.
10431247 1999 RLIM inhibits functional activity of LIM homeodomain transcription factors via recruitment of the histone deacetylase complex.
9849969 1998 On the development of the islets of Langerhans.
9452425 1998 The nuclear LIM domain interactor NLI mediates homo- and heterodimerization of LIM domain transcription factors.
9000074 1997 Independent requirement for ISL1 in formation of pancreatic mesenchyme and islet cells.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8565076 1996 Requirement for LIM homeobox gene Isl1 in motor neuron generation reveals a motor neuron-dependent step in interneuron differentiation.
7912209 1994 Isolation of the human LIM/homeodomain gene islet-1 and identification of a simple sequence repeat polymorphism [corrected].
7907017 1994 The LIM domain homeobox gene isl-1: conservation of human, hamster, and rat complementary deoxyribonucleic acid sequences and expression in cell types of nonneuroendocrine lineage.
7789634 1995 Characterization of the LIM/homeodomain gene islet-1 and single nucleotide screening in NIDDM.
1685766 1991 Islet cell and extrapancreatic expression of the LIM domain homeobox gene isl-1.