Aliases for ISL1 Gene
External Ids for ISL1 Gene
Previous GeneCards Identifiers for ISL1 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 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]
GeneCards Summary for ISL1 Gene
ISL1 (ISL LIM Homeobox 1) is a Protein Coding gene. Diseases associated with ISL1 include Bladder Exstrophy And Epispadias Complex and Bladder Exstrophy. Among its related pathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Signaling pathways regulating pluripotency of stem cells. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding and RNA polymerase II activating transcription factor binding. An important paralog of this gene is ISL2.
UniProtKB/Swiss-Prot Summary for ISL1 Gene
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) differentiation. Cooperates with the transcription factor POU4F2 to achieve maximal levels of expression of RGC target genes and RGC fate specification in the developing retina. Involved in the specification of motor neurons in cooperation with LHX3 and LDB1. Binds to insulin gene enhancer sequences. Essential for heart development. Marker of one progenitor cell population that give rise to the outflow tract, right ventricle, a subset of left ventricular cells, and a large number of atrial cells as well, its function is required for these progenitors to contribute to the heart. Controls the expression of FGF and BMP growth factors in this cell population and is required for proliferation and survival of cells within pharyngeal foregut endoderm and adjacent splanchnic mesoderm as well as for migration of cardiac progenitors into the heart (By similarity).