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

Gene ID: 3670, updated on 3-May-2024

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
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Genomic context

See ISL1 in Genome Data Viewer
Location:
5q11.1
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (51383448..51394730)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (52202628..52213920)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (50679282..50690564)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA U13 Neighboring gene ISL1 divergent transcript Neighboring gene ISL1 intron 2 enhancer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:50688625-50689156 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:50690220-50690935 Neighboring gene high mobility group box 1 pseudogene 47 Neighboring gene protein mago nashi homolog

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 tyrosine phosphorylation of STAT protein IEA
Inferred from Electronic Annotation
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
part_of 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

Preferred Names
insulin gene enhancer protein ISL-1
Names
islet-1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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

  1. NG_023040.1 RefSeqGene

    Range
    5325..16607
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002202.3NP_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:1771
    LIM1_Isl; The first LIM domain of Isl, a member of LHX protein family
    cd09374
    Location:79133
    LIM2_Isl; The second LIM domain of Isl, a member of LHX protein family
    smart00389
    Location:181237
    HOX; Homeodomain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    51383448..51394730
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011543380.3XP_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:1569
    LIM2_Isl; The second LIM domain of Isl, a member of LHX protein family
    smart00389
    Location:117173
    HOX; Homeodomain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    52202628..52213920
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054352527.1XP_054208502.1  insulin gene enhancer protein ISL-1 isoform X1