ISL1 ISL LIM homeobox 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ISL1provided by HGNC
Official Full Name: ISL LIM homeobox 1provided by HGNC
Primary source: HGNC:HGNC:6132
See related: Ensembl:ENSG00000016082 MIM:600366; AllianceGenome:HGNC:6132
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: Isl-1; ISLET1
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]
Expression: Biased expression in prostate (RPKM 3.8), stomach (RPKM 3.1) and 9 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q11.1

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (51383448..51394730)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (52202628..52213920)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (50679282..50690564)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The multi-lineage transcription factor ISL1 controls cardiomyocyte cell fate through interaction with NKX2.5.
Title: The multi-lineage transcription factor ISL1 controls cardiomyocyte cell fate through interaction with NKX2.5.
Human breast milk cells are positive for the pioneer transcription factor ISL1.
Title: Human breast milk cells are positive for the pioneer transcription factor ISL1.
Isl1 promotes gene transcription through physical interaction with Set1/Mll complexes.
Title: Isl1 promotes gene transcription through physical interaction with Set1/Mll complexes.
Genetic Variants of ISL1 Gene Promoter Identified from Congenital Tetralogy of Fallot Patients Alter Cellular Function Forming Disease Basis.
Title: Genetic Variants of ISL1 Gene Promoter Identified from Congenital Tetralogy of Fallot Patients Alter Cellular Function Forming Disease Basis.
Identification and functional analysis of genetic variants of ISL1 gene promoter in human atrial septal defects.
Title: Identification and functional analysis of genetic variants of ISL1 gene promoter in human atrial septal defects.
ISL1 Promotes Human Glioblastoma-Derived Stem Cells' Self-Renewal by Activation of Sonic Hedgehog/GLI1 Function.
Title: ISL1 Promotes Human Glioblastoma-Derived Stem Cells' Self-Renewal by Activation of Sonic Hedgehog/GLI1 Function.
Investigation of promoter methylation patterns association with genes expression profile of ISL1, MGMT and DMNT3b in tissue of breast cancer patients.
Title: Investigation of promoter methylation patterns association with genes expression profile of ISL1, MGMT and DMNT3b in tissue of breast cancer patients.
ISL1 promotes enzalutamide resistance in castration-resistant prostate cancer (CRPC) through epithelial to mesenchymal transition (EMT).
Title: ISL1 promotes enzalutamide resistance in castration-resistant prostate cancer (CRPC) through epithelial to mesenchymal transition (EMT).
Phosphorylation of islet-1 serine 269 by CDK1 increases its transcriptional activity and promotes cell proliferation in gastric cancer.
Title: Phosphorylation of islet-1 serine 269 by CDK1 increases its transcriptional activity and promotes cell proliferation in gastric cancer.
ISL1 promoted tumorigenesis and EMT via Aurora kinase A-induced activation of PI3K/AKT signaling pathway in neuroblastoma.
Title: ISL1 promoted tumorigenesis and EMT via Aurora kinase A-induced activation of PI3K/AKT signaling pathway in neuroblastoma.

Submit: New GeneRIF Correction See all GeneRIFs (81)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association scan of dental caries in the permanent dentition. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D5S2482 (e-PCR)
- UniSTS:69430

ISL1__6479 (e-PCR)
- UniSTS:464505

GDB:383820 (e-PCR)
- UniSTS:157079

D10Bir8 (e-PCR), detects polymorphism
- UniSTS:141487

D5S2482 (e-PCR)
- UniSTS:181718

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables bHLH transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables nuclear estrogen receptor binding	ISS Inferred from Sequence or Structural Similarity more info
enables nuclear receptor binding	ISS Inferred from Sequence or Structural Similarity more info
enables promoter-specific chromatin binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in atrial septum morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in axonogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in canonical Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in cardiac cell fate determination	IDA Inferred from Direct Assay more info	PubMed
involved_in cardiac muscle cell myoblast differentiation	IEA Inferred from Electronic Annotation more info
involved_in cardiac right ventricle morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell population proliferation	IEA Inferred from Electronic Annotation more info
involved_in cellular response to glucocorticoid stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in endocardial cushion morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in heart development	ISS Inferred from Sequence or Structural Similarity more info
involved_in innervation	ISS Inferred from Sequence or Structural Similarity more info
involved_in mesenchymal cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of canonical Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of inflammatory response	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of intracellular estrogen receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of neuron apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of neuron differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of protein-containing complex assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in neural crest cell migration	IEA Inferred from Electronic Annotation more info
involved_in neuron fate specification	IBA Inferred from Biological aspect of Ancestor more info
involved_in neuron fate specification	ISS Inferred from Sequence or Structural Similarity more info
involved_in outflow tract morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in outflow tract septum morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in pancreas development	ISS Inferred from Sequence or Structural Similarity more info
involved_in peripheral nervous system neuron axonogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in pharyngeal system development	ISS Inferred from Sequence or Structural Similarity more info
involved_in pituitary gland development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of angiogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cell population proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of granulocyte colony-stimulating factor production	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of granulocyte macrophage colony-stimulating factor production	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of insulin secretion	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of interleukin-1 alpha production	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of interleukin-1 beta production	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of interleukin-12 production	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of interleukin-6 production	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of macrophage colony-stimulating factor production	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of tumor necrosis factor production	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of type II interferon production	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of vascular endothelial growth factor production	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of regulation of heart rate by cardiac conduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of secondary heart field cardioblast proliferation	IEA Inferred from Electronic Annotation more info
involved_in retinal ganglion cell axon guidance	IEA Inferred from Electronic Annotation more info
involved_in secondary heart field specification	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sensory system development	ISS Inferred from Sequence or Structural Similarity more info
involved_in sinoatrial node cell development	ISS Inferred from Sequence or Structural Similarity more info
involved_in spinal cord motor neuron cell fate specification	IEA Inferred from Electronic Annotation more info
involved_in spinal cord motor neuron differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in trigeminal nerve development	ISS Inferred from Sequence or Structural Similarity more info
involved_in ventricular cardiac muscle tissue morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in visceral motor neuron differentiation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in cytoplasm	NAS Non-traceable Author Statement more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: insulin gene enhancer protein ISL-1

Names: islet-1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_023040.1 RefSeqGene

Range

5325..16607

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002202.3 → NP_002193.2 insulin gene enhancer protein ISL-1

See identical proteins and their annotated locations for NP_002193.2

Status: REVIEWED

Source sequence(s)

AC010478, BC017027, BC031213, BM680522

Consensus CDS

CCDS43314.1

UniProtKB/Swiss-Prot

P20663, P47894, P61371

UniProtKB/TrEMBL

A8K3X7

Related

ENSP00000230658.7, ENST00000230658.12

Conserved Domains (3) summary

cd09366
Location:17 → 71

LIM1_Isl; The first LIM domain of Isl, a member of LHX protein family

cd09374
Location:79 → 133

LIM2_Isl; The second LIM domain of Isl, a member of LHX protein family

smart00389
Location:181 → 237

HOX; Homeodomain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

51383448..51394730

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011543380.3 → XP_011541682.1 insulin gene enhancer protein ISL-1 isoform X1

See identical proteins and their annotated locations for XP_011541682.1

Conserved Domains (2) summary

cd09374
Location:15 → 69

LIM2_Isl; The second LIM domain of Isl, a member of LHX protein family

smart00389
Location:117 → 173

HOX; Homeodomain