ISL1 (ISL LIM homeobox 1)

Gene

• Entrez ID: 3670
• Gene name: ISL LIM homeobox 1
• Gene symbol: ISL1
• Synonyms: ISLET1, Isl-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

miRNA

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

Transcription factor	Regulation	Reference
PAX4	Unknown	15161765
SOX2	Repression	20739473

Gene ontology (GO)

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

Other IDs

• MIM: 600366
• HGNC: 6132
• e!Ensembl: 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

• Sequence:

  MGDMGDPPKKKRLISLCVGCGNQIHDQYILRVSPDLEWHAACLKCAECNQYLDESCTCFV
  RDGKTYCKRDYIRLYGIKCAKCSIGFSKNDFVMRARSKVYHIECFRCVACSRQLIPGDEF
  ALREDGLFCRADHDVVERASLGAGDPLSPLHPARPLQMAAEPISARQPALRPHVHKQPEK
  TTRVRTVLNEKQLHTLRTCYAANPRPDALMKEQLVEMTGLSPRVIRVWFQNKRCKDKKRS
  IMMKQLQQQQPNDKTNIQGMTGTPMVAASPERHDGGLQANPVEVQSYQPPWKVLSDFALQ
  SDIDQPAFQQLVNFSEGGPGSNSTGSEVASMSSQLPDTPNSMVASPIEA

• Sequence length: 349

Pathways

KEGG:

Signaling pathways regulating pluripotency of stem cells

Reactome:

Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP)

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Neuroblastoma	Neuroblastoma	rs121908161, rs113994087, rs113994089, rs281864719, rs863225285, rs863225284, rs863225283, rs281864720, rs863225282, rs863225281, rs1057519698, rs915983602, rs1469271544	30127528
Vesicoureteral reflux	Vesico-Ureteral Reflux	rs587777684, rs148731211

Unknown
Disease name	Disease term	dbSNP ID	References
Urinary bladder cancer	Malignant neoplasm of urinary bladder		26332997
Bladder neoplasm	Bladder Neoplasm		26332997
Bladder exstrophy	Bladder Exstrophy	rs760064852, rs751444145	25763902
Bowel incontinence	Fecal Incontinence
Congenital exomphalos	Congenital exomphalos
Congenital hypoplasia of penis	Congenital hypoplasia of penis
Congenital malrotation of intestine	Congenital malrotation of intestine
Congenital omphalocele	Congenital omphalocele
Epispadias	Epispadias