isl1a ISL LIM homeobox 1a [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: isl1aprovided by ZNC
Official Full Name: ISL LIM homeobox 1aprovided by ZNC
Primary source: ZFIN:ZDB-GENE-980526-112
See related: Ensembl:ENSDARG00000004023 AllianceGenome:ZFIN:ZDB-GENE-980526-112
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: isl1; Isl-1; islet-1
Summary: Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and cis-regulatory region sequence-specific DNA binding activity. Involved in sinoatrial node cell development. Acts upstream of or within several processes, including exocrine pancreas development; glandular epithelial cell development; and neuron differentiation. Located in nucleus. Is expressed in several structures, including heart; mesoderm; nervous system; pancreatic system; and pleuroperitoneal region. Human ortholog(s) of this gene implicated in atrial fibrillation; congenital heart disease (multiple); diabetes mellitus (multiple); dilated cardiomyopathy; and myocardial infarction. Orthologous to human ISL1 (ISL LIM homeobox 1). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 5

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	5	NC_007116.7 (40728613..40734045, complement)
105	previous assembly	GRCz10 (GCF_000002035.5)	5	NC_007116.6 (40128427..40133912, complement)

Chromosome 5 - NC_007116.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A BMP4-p38 MAPK signaling axis controls ISL1 protein stability and activity during cardiogenesis.
Title: A BMP4-p38 MAPK signaling axis controls ISL1 protein stability and activity during cardiogenesis.
ISL1 is a major susceptibility gene for bladder exstrophy and a regulator of urinary tract development.
Title: ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development.
Nkx2-5 and nkx2.7 genes restrict proliferation of heart field progenitors in the outflow tract, delimit the number of progenitors at the venous pole and pattern the sinoatrial node acting through Isl1 repression.
Title: Nkx genes establish second heart field cardiomyocyte progenitors at the arterial pole and pattern the venous pole through Isl1 repression.
Arx contributes to patterning in the prethalamic region, while Isl1 is required for differentiation of prethalamic dopaminergic neurons.
Title: Analysis of transcriptional codes for zebrafish dopaminergic neurons reveals essential functions of Arx and Isl1 in prethalamic dopaminergic neuron development.
Ajuba plays a central role in regulating the second heart field during heart development by linking retinoic acid signaling to the function of Isl1, a key transcription factor in cardiac progenitor cells.
Title: The LIM protein Ajuba restricts the second heart field progenitor pool by regulating Isl1 activity.
Isl1 is required for the selective outgrowth of the peripheral axons of Rohon-beard neurons.
Title: Islet1 selectively promotes peripheral axon outgrowth in Rohon-Beard primary sensory neurons.
prdm1a Regulates sox10 and islet1 in the development of neural crest and Rohon-Beard sensory neurons.
Title: prdm1a Regulates sox10 and islet1 in the development of neural crest and Rohon-Beard sensory neurons.
primary motoneuron subtypes are likely to be specified by factors that act in parallel to or upstream of islet1 and islet2
Title: Islet1 and Islet2 have equivalent abilities to promote motoneuron formation and to specify motoneuron subtype identity.
By direct comparison of the upstream flanking regions of the zebrafish and human isl1 genes, we identified another highly conserved noncoding element.
Title: Comparative functional genomics revealed conservation and diversification of three enhancers of the isl1 gene for motor and sensory neuron-specific expression.
Nkx6 proteins regulate MiP motorneuron development at least in part by maintaining the islet1 expression that is required both to promote the MiP subtype and to suppress interneuron development.
Title: Nkx6 proteins specify one zebrafish primary motoneuron subtype by regulating late islet1 expression.

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General gene information

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Markers

isl1 (e-PCR), detects polymorphism
- UniSTS:186978

Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables DNA binding	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	IEA Inferred from Electronic Annotation more info
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

Process	Evidence Code	Pubs
acts_upstream_of_or_within GABAergic neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within atrial cardiac muscle cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within axon extension	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in axonogenesis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cell differentiation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within endocrine pancreas development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within exocrine pancreas development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within exocrine pancreas development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heart development	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within neuron development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuron fate specification	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within neuron fate specification	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within neuron fate specification	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within neuron fate specification	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within pancreatic A cell development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within pancreatic D cell development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within peripheral nervous system neuron axonogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of heart contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sinoatrial node cell development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within spinal cord association neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within spinal cord motor neuron differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within spinal cord motor neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within type B pancreatic cell development	IMP Inferred from Mutant Phenotype more info	PubMed
NOT acts_upstream_of_or_within ventricular cardiac muscle cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: insulin gene enhancer protein isl-1

Names: ISL LIM homeobox 1; islet1

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.

mRNA and Protein(s)

NM_130962.1 → NP_571037.1 insulin gene enhancer protein isl-1

See identical proteins and their annotated locations for NP_571037.1

Status: PROVISIONAL

Source sequence(s)

D21135

UniProtKB/Swiss-Prot

A2AWM5, P53405

Related

ENSDARP00000012903.4, ENSDART00000010896.6

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_000002035.6-RS_2024_08

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

Reference GRCz11 Primary Assembly

Genomic

NC_007116.7 Reference GRCz11 Primary Assembly

Range

40728613..40734045 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005165264.5 → XP_005165321.1 insulin gene enhancer protein isl-1 isoform X1

UniProtKB/TrEMBL

A0A8M2BCL0

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:180 → 236

HOX; Homeodomain