Official Symbol: ISL1provided by HGNC
Official Full Name: ISL LIM homeobox 1provided by HGNC
Primary Source: HGNC:6132
See related: Ensembl:ENSG00000016082; HPRD:02650; MIM:600366
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; ISL1
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]

[Top][Help]Genomic regions, transcripts, and products

(plus) Go to reference sequence details Try our new Sequence Viewer

[Top][Help]Genomic context

chromosome: 5; Location: 5q11.1See ISL1 in MapViewer

[Top][Help]Bibliography

GeneRIFs: Gene References Into Function What's a GeneRIF?

	1.	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.
	2.	purified ISL1(+) primordial progenitors are capable of self-renewal and expansion before differentiation into the three major cell types in the heart
	3.	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).
	4.	An important developmental and regulatory gene ISL1 is uniquely expressed in visceral fat, probably in the preadipocyte. ISL1 may be regulated by adiposity.
	5.	Observational study of gene-disease association. (HuGE Navigator)
	6.	beta-catenin signaling regulates proliferation and survival of cardiac progenitors
	7.	Sudy illustrated that GPA2 is positively regulated by isl-1, suggesting that this protein associates with endocrine systems including the pituitary and pancreas.
	8.	Isl1 could enhance the HNF4alpha-mediated activation of transcription of the HNF1alpha, PPARalpha and insulin I promoters
	9.	we demonstrated that ISL1 and BETA2 could activate insulin gene transcription synergistically.
	10.	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.
	11.	cultured pancreatic islets contain nestin and Isl-1 positive mesenchymal stem cells with multipotential developmental capacity

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[Top][Help]Interactions

Description ..........
Product	Interactant	Other Gene	Complex	Source	Pubs

P61371	P03372	ESR1		HPRD	PubMed

P61371	Q96A47	ISL2		HPRD	PubMed

P61371	Q86U70	LDB1		HPRD	PubMed

P61371	P48742	LHX1		HPRD	PubMed

P61371	Q9UBR4	LHX3		HPRD	PubMed

P61371	P25791	LMO2		HPRD	PubMed

P61371	Q8TE12	LMX1A		HPRD	PubMed

P61371	P10589	NR2F1		HPRD	PubMed

P61371	Q9BY49	PECR		HPRD	PubMed

P61371	Q9NVW2	RLIM		HPRD	PubMed
Affinity Capture-Western; Reconstituted Complex
BioGRID:109877	BioGRID:108403	ESR1		BioGRID	PubMed
Reconstituted Complex
BioGRID:109877	BioGRID:109877	ISL1		BioGRID	PubMed
Reconstituted Complex
BioGRID:109877	BioGRID:122318	ISL2		BioGRID	PubMed
Reconstituted Complex
BioGRID:109877	BioGRID:113718	LHX3		BioGRID	PubMed
Reconstituted Complex
BioGRID:109877	BioGRID:110191	LMO2		BioGRID	PubMed
Reconstituted Complex
BioGRID:109877	BioGRID:110194	LMX1A		BioGRID	PubMed
Reconstituted Complex
BioGRID:109877	BioGRID:112883	NR2F1		BioGRID	PubMed
Reconstituted Complex
BioGRID:109877	BioGRID:120932	PECR		BioGRID	PubMed

[Top][Help]General gene information

Markers

D5S2482(e-PCR): Links: UniSTS:69430

ISL1__6479(e-PCR): Links: UniSTS:464505

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

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

D5S2482(e-PCR): Links: UniSTS:181718

Genotypes

See ISL1 SNP Genotype Report

See ISL1 SNP Geneview Report

Homology

Homologs of the ISL1 gene The ISL1 gene is conserved in chimpanzee, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, and C.elegans.

Map Viewer (Mouse, Rat)

Gene Ontology Provided by GOA

Function	Evidence
RNA polymerase II transcription factor activity	TAS	PubMed
chromatin binding	IEA
metal ion binding	IEA
protein binding	IPI	PubMed
sequence-specific DNA binding	IEA
transcription factor activity	IEA
zinc ion binding	IEA

Process	Evidence
generation of precursor metabolites and energy	TAS	PubMed
heart morphogenesis	IEA
mesenchymal cell differentiation	IEA
multicellular organismal development	IEA
negative regulation of neuron differentiation	IEA
neural crest cell migration	IEA
neuron fate commitment	IEA
pancreas development	IEA
pituitary gland development	IEA
positive regulation of transcription from RNA polymerase II promoter	IEA
regulation of transcription, DNA-dependent	IEA
retinal ganglion cell axon guidance	IEA
visceral motor neuron differentiation	IEA

Component	Evidence
nucleus	IEA

[Top][Help]General protein information

Preferred Names: islet-1

Names: islet-1; ISL1 transcription factor, LIM/homeodomain

[Top][Help]NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

mRNA and Protein(s)

NM_002202.2 → NP_002193.2 islet-1

Source sequence(s)

AC010478,BC017027,BC031213,BM680522

Consensus CDS

CCDS43314.1

UniProtKB/Swiss-Prot

P61371

Related Ensembl

ENSP00000230658, ENST00000230658

Conserved Domains (2) summary

cd00086
Location:183 – 240
Blast Score: 161

homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

cl02475
Location:17 – 75
Blast Score: 170

LIM; LIM domain

RefSeqs of Annotated Genomes: Build 37.1

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

Genome Reference Consortium Human Build 37 (GRCh37), Primary_Assembly

Genomic

NC_000005.9

Range

50678957..50690563

Download

GenBank FASTA Sequence Viewer (Graphics)
NT_006713.15

Range

1273316..1284922

Download

GenBank FASTA Sequence Viewer (Graphics)

Alternate assembly (Celera)

Genomic

AC_000048.1

Range

47625608..47637215

Download

GenBank FASTA Sequence Viewer (Graphics)
NW_922607.1

Range

1240994..1252601

Download

GenBank FASTA Sequence Viewer (Graphics)

Alternate assembly (HuRef)

Genomic

AC_000137.1

Range

47642568..47654182

Download

GenBank FASTA Sequence Viewer (Graphics)
NW_001838934.1

Range

1249888..1261502

Download

GenBank FASTA Sequence Viewer (Graphics)

[Top][Help]Related Sequences

Nucleotide		Protein
genomic	AC010478.5 (100495..111779)	None
genomic	CH471123.1	EAW54861.1
mRNA	AK290742.1	BAF83431.1
mRNA	BC017027.1	None
mRNA	BC031213.1	AAH31213.1
mRNA	BM680522.1	None
mRNA	S70721.1	AAD14064.1
mRNA	U07559.1	AAA81946.1
other-genetic	DQ891558.2	ABM82484.1
other-genetic	DQ894746.2	ABM85672.1
other-genetic	EU176619.1	ABW03420.1