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

Gene ID: 3670, updated on 11-Sep-2019

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
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

Genomic context

See ISL1 in Genome Data Viewer
Location:
5q11.1
Exon count:
7
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (51383448..51394730)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (50678958..50690564)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ribosomal protein S10 pseudogene 12 Neighboring gene uncharacterized LOC642366 Neighboring gene ISL1 intron 2 enhancer Neighboring gene high mobility group box 1 pseudogene 47 Neighboring gene protein mago nashi homolog pseudogene

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 BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription activator activity, RNA polymerase II-specific IEA
Inferred from Electronic Annotation
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific NAS
Non-traceable Author Statement
more info
PubMed 
RNA polymerase II activating transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
RNA polymerase II proximal promoter sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
bHLH transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
enhancer sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enhancer sequence-specific DNA binding NAS
Non-traceable Author Statement
more info
PubMed 
estrogen receptor binding ISS
Inferred from Sequence or Structural Similarity
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
nuclear receptor binding ISS
Inferred from Sequence or Structural Similarity
more info
 
promoter-specific chromatin binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription coactivator activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
atrial septum morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
axon regeneration IEA
Inferred from Electronic Annotation
more info
 
axonogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cardiac cell fate determination IDA
Inferred from Direct Assay
more info
PubMed 
cardiac muscle cell myoblast differentiation IEA
Inferred from Electronic Annotation
more info
 
cardiac right ventricle morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to glucocorticoid stimulus ISS
Inferred from Sequence or Structural Similarity
more info
 
endocardial cushion morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
heart development ISS
Inferred from Sequence or Structural Similarity
more info
 
innervation ISS
Inferred from Sequence or Structural Similarity
more info
 
mesenchymal cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of canonical Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
negative regulation of epithelial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of inflammatory response ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of intracellular estrogen receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of neuron apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of protein homodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
neural crest cell migration IEA
Inferred from Electronic Annotation
more info
 
neuron fate specification IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuron fate specification ISS
Inferred from Sequence or Structural Similarity
more info
 
outflow tract morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
outflow tract septum morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
pancreas development ISS
Inferred from Sequence or Structural Similarity
more info
 
peripheral nervous system neuron axonogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
pharyngeal system development ISS
Inferred from Sequence or Structural Similarity
more info
 
pituitary gland development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of DNA binding IEA
Inferred from Electronic Annotation
more info
 
positive regulation of angiogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of cell proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of epithelial to mesenchymal transition IEA
Inferred from Electronic Annotation
more info
 
positive regulation of granulocyte colony-stimulating factor production ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of granulocyte macrophage colony-stimulating factor production ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of histone acetylation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of insulin secretion IC
Inferred by Curator
more info
PubMed 
positive regulation of interferon-gamma production ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of interleukin-1 alpha production ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of interleukin-1 beta production ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of interleukin-12 production ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of interleukin-6 production ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of macrophage colony-stimulating factor production ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of transcription by RNA polymerase II IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of tumor necrosis factor production ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of tyrosine phosphorylation of STAT protein IEA
Inferred from Electronic Annotation
more info
 
positive regulation of vascular endothelial growth factor production ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of secondary heart field cardioblast proliferation IEA
Inferred from Electronic Annotation
more info
 
retinal ganglion cell axon guidance IEA
Inferred from Electronic Annotation
more info
 
secondary heart field specification IMP
Inferred from Mutant Phenotype
more info
PubMed 
sensory system development ISS
Inferred from Sequence or Structural Similarity
more info
 
spinal cord motor neuron cell fate specification IEA
Inferred from Electronic Annotation
more info
 
spinal cord motor neuron differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
trigeminal nerve development ISS
Inferred from Sequence or Structural Similarity
more info
 
ventricular cardiac muscle tissue morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
visceral motor neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm NAS
Non-traceable Author Statement
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
insulin gene enhancer protein ISL-1
Names
ISL1 transcription factor, LIM/homeodomain
islet-1

NCBI Reference Sequences (RefSeq)

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
    P61371
    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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011543380.2XP_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
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