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Aliases for ISL1 Gene

Aliases for ISL1 Gene

  • ISL LIM Homeobox 1 2 3
  • Islet-1 3 4
  • ISL1 Transcription Factor, LIM/Homeodomain, (Islet-1) 2
  • ISL1 Transcription Factor, LIM/Homeodomain 3
  • Insulin Gene Enhancer Protein ISL-1 3
  • ISLET1 3
  • Isl-1 3

External Ids for ISL1 Gene

Summaries for ISL1 Gene

Entrez Gene Summary for ISL1 Gene

  • 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]

GeneCards Summary for ISL1 Gene

ISL1 (ISL LIM Homeobox 1) is a Protein Coding gene. Diseases associated with ISL1 include gilles de la tourette syndrome and maturity-onset diabetes of the young. Among its related pathways are Heart Development and Neural Crest Differentiation. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and RNA polymerase II activating transcription factor binding. An important paralog of this gene is LHX4.

UniProtKB/Swiss-Prot for ISL1 Gene

  • Binds and regulates the promoters of the insulin, glucagon and somatostatin genes. Involved in the specificarion of motor neurons in cooperation with LHX3 and LDB1 (By similarity).

Gene Wiki entry for ISL1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ISL1 Gene

Genomics for ISL1 Gene

Genomic Location for ISL1 Gene

Start:
51,383,124 bp from pter
End:
51,394,738 bp from pter
Size:
11,615 bases
Orientation:
Plus strand

Genomic View for ISL1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ISL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ISL1 Gene

Regulatory Elements for ISL1 Gene

Proteins for ISL1 Gene

  • Protein details for ISL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P61371-ISL1_HUMAN
    Recommended name:
    Insulin gene enhancer protein ISL-1
    Protein Accession:
    P61371
    Secondary Accessions:
    • P20663
    • P47894

    Protein attributes for ISL1 Gene

    Size:
    349 amino acids
    Molecular mass:
    39036 Da
    Quaternary structure:
    • At neuronal promoters, displaces LDB1 from LHX3 LIM domain to form a ternary complex in which ISL1 contacts both LHX3 and LDB1.

neXtProt entry for ISL1 Gene

Proteomics data for ISL1 Gene at MOPED

Post-translational modifications for ISL1 Gene

Other Protein References for ISL1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for ISL1 Gene

Domains for ISL1 Gene

Gene Families for ISL1 Gene

HGNC:
  • LIM :Homeoboxes / LIM class

Protein Domains for ISL1 Gene

Suggested Antigen Peptide Sequences for ISL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P61371

UniProtKB/Swiss-Prot:

ISL1_HUMAN
Domain:
  • Contains 1 homeobox DNA-binding domain.:
    • P61371
  • Contains 2 LIM zinc-binding domains.:
    • P61371
genes like me logo Genes that share domains with ISL1: view

Function for ISL1 Gene

Molecular function for ISL1 Gene

GENATLAS Biochemistry: islet-1 nuclear protein,binding to the enhancer region of the insulin gene,LIM-homeo doamin family
UniProtKB/Swiss-Prot Function: Binds and regulates the promoters of the insulin, glucagon and somatostatin genes. Involved in the specificarion of motor neurons in cooperation with LHX3 and LDB1 (By similarity).

Gene Ontology (GO) - Molecular Function for ISL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001102 RNA polymerase II activating transcription factor binding IPI 19619559
GO:0001105 RNA polymerase II transcription coactivator activity IDA 19619559
GO:0001158 enhancer sequence-specific DNA binding NAS 7789634
GO:0003677 DNA binding --
GO:0003682 chromatin binding IEA --
genes like me logo Genes that share ontologies with ISL1: view
genes like me logo Genes that share phenotypes with ISL1: view

Animal Models for ISL1 Gene

MGI Knock Outs for ISL1:

miRNA for ISL1 Gene

miRTarBase miRNAs that target ISL1
Targeting motifs for ISL1 Gene
HOMER Transcription Factor Regulatory Elements motif ISL1
  • Consensus sequence: CTAATKGV Submotif: canonical Cell Type: Neuron GeoId: GSE31456

No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targeting for ISL1 Gene

Localization for ISL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ISL1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ISL1 Gene COMPARTMENTS Subcellular localization image for ISL1 gene
Compartment Confidence
nucleus 5
cytoskeleton 2
cytosol 2
extracellular 1

Gene Ontology (GO) - Cellular Components for ISL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular --
GO:0005634 nucleus NAS 7907017
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm NAS 7907017
GO:0005739 mitochondrion IDA --
genes like me logo Genes that share ontologies with ISL1: view

Pathways for ISL1 Gene

genes like me logo Genes that share pathways with ISL1: view

Gene Ontology (GO) - Biological Process for ISL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter ISS --
GO:0001755 neural crest cell migration IEA --
GO:0003007 heart morphogenesis --
GO:0003139 secondary heart field specification IMP 20520780
GO:0003148 outflow tract septum morphogenesis ISS --
genes like me logo Genes that share ontologies with ISL1: view

Compounds for ISL1 Gene

(2) Novoseek inferred chemical compound relationships for ISL1 Gene

Compound -log(P) Hits PubMed IDs
proglucagon 62.3 1
glucose 6.83 4
genes like me logo Genes that share compounds with ISL1: view

Transcripts for ISL1 Gene

mRNA/cDNA for ISL1 Gene

Unigene Clusters for ISL1 Gene

ISL LIM homeobox 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ISL1 Gene

No ASD Table

Relevant External Links for ISL1 Gene

GeneLoc Exon Structure for
ISL1
ECgene alternative splicing isoforms for
ISL1

Expression for ISL1 Gene

mRNA expression in normal human tissues for ISL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ISL1 Gene

This gene is overexpressed in Vagina (9.9), Prostate (6.4), Stomach (5.9), Esophagus - Gastroesophageal Junction (5.4), and Cervix - Ectocervix (4.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for ISL1 Gene

SOURCE GeneReport for Unigene cluster for ISL1 Gene Hs.505

mRNA Expression by UniProt/SwissProt for ISL1 Gene

P61371-ISL1_HUMAN
Tissue specificity: Expressed in subsets of neurons of the adrenal medulla and dorsal root ganglion, inner nuclear and ganglion cell layers in the retina, the pineal and some regions of the brain
genes like me logo Genes that share expressions with ISL1: view

Orthologs for ISL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ISL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ISL1 35
  • 99.71 (n)
  • 100 (a)
ISL1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ISL1 35
  • 93.98 (n)
  • 100 (a)
ISL1 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ISL1 36
  • 96 (a)
OneToOne
LOC612954 35
  • 95.22 (n)
  • 100 (a)
mouse
(Mus musculus)
Mammalia Isl1 35
  • 93.03 (n)
  • 100 (a)
Isl1 16
Isl1 36
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ISL1 36
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ISL1 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Isl1 35
  • 93.22 (n)
  • 100 (a)
chicken
(Gallus gallus)
Aves ISL1 35
  • 89.49 (n)
  • 99.43 (a)
ISL1 36
  • 99 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ISL1 36
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.10452 35
zebrafish
(Danio rerio)
Actinopterygii isl1 35
  • 80.99 (n)
  • 97.99 (a)
isl1 36
  • 98 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010209 35
  • 61.44 (n)
  • 68 (a)
fruit fly
(Drosophila melanogaster)
Insecta tup 35
  • 62.23 (n)
  • 66.56 (a)
tup 36
  • 40 (a)
OneToMany
tup 37
  • 76 (a)
worm
(Caenorhabditis elegans)
Secernentea lim-7 35
  • 51.05 (n)
  • 45.02 (a)
lim-7 36
  • 31 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14227 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 54 (a)
OneToMany
Species with no ortholog for ISL1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ISL1 Gene

ENSEMBL:
Gene Tree for ISL1 (if available)
TreeFam:
Gene Tree for ISL1 (if available)

Paralogs for ISL1 Gene

Paralogs for ISL1 Gene

Selected SIMAP similar genes for ISL1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with ISL1: view

Variants for ISL1 Gene

Sequence variations from dbSNP and Humsavar for ISL1 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs1006 -- 51,394,249(+) AGAAG(A/C/T)CTGAA utr-variant-3-prime
rs1017 -- 51,394,261(+) CGACT(A/T)TAAAG utr-variant-3-prime
rs991216 -- 51,392,699(+) GGAGG(C/G)TTCAG intron-variant
rs991217 -- 51,392,967(+) GCCAA(A/G)AGGCA intron-variant
rs1802593 -- 51,394,125(+) GATAT(G/T)TTTAA utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for ISL1 Gene

Variant ID Type Subtype PubMed ID
nsv830288 CNV Gain 17160897

Relevant External Links for ISL1 Gene

HapMap Linkage Disequilibrium report
ISL1
Human Gene Mutation Database (HGMD)
ISL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ISL1 Gene

Disorders for ISL1 Gene

(2) University of Copenhagen DISEASES for ISL1 Gene

(3) Novoseek inferred disease relationships for ISL1 Gene

Disease -log(P) Hits PubMed IDs
niddm 1.21 1
tumors 0 6
obesity 0 4

Relevant External Links for ISL1

Genetic Association Database (GAD)
ISL1
Human Genome Epidemiology (HuGE) Navigator
ISL1
genes like me logo Genes that share disorders with ISL1: view

No data available for UniProtKB/Swiss-Prot for ISL1 Gene

Publications for ISL1 Gene

  1. Isolation of the human LIM/homeodomain gene islet-1 and identification of a simple sequence repeat polymorphism. (PMID: 7912209) Tanizawa Y. … Permutt M.A. (Diabetes 1994) 2 3 4 23
  2. The LIM domain homeobox gene isl-1: conservation of human, hamster, and rat complementary deoxyribonucleic acid sequences and expression in cell types of nonneuroendocrine lineage. (PMID: 7907017) Wang M. … Drucker D.J. (Endocrinology 1994) 3 4 23
  3. Association study for genes at chromosome 5p13-q11 in attention deficit hyperactivity disorder. (PMID: 18081024) Laurin N. … Barr C.L. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2008) 3 23 48
  4. Islet-1: a potentially important role for an islet cell gene in visceral fat. (PMID: 18239644) Li H. … Chisholm D.J. (Obesity (Silver Spring) 2008) 3 23
  5. Beta-catenin directly regulates Islet1 expression in cardiovascular progenitors and is required for multiple aspects of cardiogenesis. (PMID: 17519333) Lin L. … Evans S.M. (Proc. Natl. Acad. Sci. U.S.A. 2007) 3 23

Products for ISL1 Gene

Sources for ISL1 Gene

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