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Aliases for ISL1 Gene

Aliases for ISL1 Gene

  • ISL LIM Homeobox 1 2 3 5
  • 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

Previous GeneCards Identifiers for ISL1 Gene

  • GC05P050856
  • GC05P052121
  • GC05P050649
  • GC05P050695
  • GC05P050714
  • GC05P047642

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 Exstrophy Of Bladder and Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex. Among its related pathways are Transcriptional Regulatory Network in Embryonic Stem Cell and Type II diabetes mellitus. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding and RNA polymerase II activating transcription factor binding. An important paralog of this gene is ISL2.

UniProtKB/Swiss-Prot for ISL1 Gene

  • DNA-binding transcriptional activator. Recognizes and binds to the consensus octamer binding site 5-ATAATTAA-3 in promoter of target genes. Plays a fundamental role in the gene regulatory network essential for retinal ganglion cell (RGC) differentiation. Cooperates with the transcription factor POU4F2 to achieve maximal levels of expression of RGC target genes and RGC fate specification in the developing retina. Involved in the specification of motor neurons in cooperation with LHX3 and LDB1. Binds to insulin gene enhancer sequences. Essential for heart development. Marker of one progenitor cell population that give rise to the outflow tract, right ventricle, a subset of left ventricular cells, and a large number of atrial cells as well, its function is required for these progenitors to contribute to the heart. Controls the expression of FGF and BMP growth factors in this cell population and is required for proliferation and survival of cells within pharyngeal foregut endoderm and adjacent splanchnic mesoderm as well as for migration of cardiac progenitors into the heart (By similarity).

Gene Wiki entry for ISL1 Gene

Additional gene information for ISL1 Gene

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

Genomics for ISL1 Gene

GeneHancer (GH) Regulatory Elements for ISL1 Gene

Promoters and enhancers for ISL1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J051380 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 650.7 +2.7 2684 9.7 PKNOX1 ATF1 ZSCAN4 ZNF2 ETS1 ZNF335 GLIS2 SCRT2 RCOR1 ZNF202 ISL1 EMB LOC642366 GC05M051356 GC05P051405
GH05J050965 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 23.8 -416.3 -416325 2.6 IRF2 KLF1 SUZ12 ZNF398 ZNF335 SP1 ZFHX2 POLR2A IKZF1 CTBP2 ENSG00000250360 ISL1 PARP8 ENSG00000251601 GC05M050956
GH05J050962 Enhancer 1.2 Ensembl ENCODE dbSUPER 10.1 -419.4 -419414 1.6 RB1 FEZF1 ZNF2 RAD21 RFX5 ZNF335 ZNF138 ARID2 ZNF143 RCOR1 ISL1 PARP8 EMB ENSG00000250360 ENSG00000251601 GC05M050956
GH05J051411 Enhancer 0.4 VISTA 11.7 +29.4 29428 1.6 POLR2A RCOR1 CHD2 ISL1 HMGB1P47 GC05P051405 GC05M051429
GH05J051409 Enhancer 0.2 dbSUPER 11.9 +27.3 27260 1.9 HMGB1P47 ISL1 GC05P051405 GC05M051429
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ISL1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ISL1 gene promoter:
  • STAT1
  • AP-1
  • STAT3
  • c-Jun
  • ATF-2
  • POU2F1
  • POU2F1a

Genomic Locations for ISL1 Gene

Genomic Locations for ISL1 Gene
chr5:51,383,124-51,394,738
(GRCh38/hg38)
Size:
11,615 bases
Orientation:
Plus strand
chr5:50,678,921-50,690,564
(GRCh37/hg19)
Size:
11,644 bases
Orientation:
Plus strand

Genomic View for ISL1 Gene

Genes around ISL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ISL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ISL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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. Interacts (via C-terminus) with POU4F2 (via C-terminus). Interacts with POU3F2. Interacts with POU4F3. Interacts (via N-terminal domain) with MLIP; the interaction represses ISL1 transactivator activity (By similarity).

neXtProt entry for ISL1 Gene

Post-translational modifications for ISL1 Gene

Other Protein References for ISL1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ISL1 Gene

Domains & Families for ISL1 Gene

Gene Families for ISL1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

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

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

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

Function for ISL1 Gene

Molecular function for ISL1 Gene

UniProtKB/Swiss-Prot Function:
DNA-binding transcriptional activator. Recognizes and binds to the consensus octamer binding site 5-ATAATTAA-3 in promoter of target genes. Plays a fundamental role in the gene regulatory network essential for retinal ganglion cell (RGC) differentiation. Cooperates with the transcription factor POU4F2 to achieve maximal levels of expression of RGC target genes and RGC fate specification in the developing retina. Involved in the specification of motor neurons in cooperation with LHX3 and LDB1. Binds to insulin gene enhancer sequences. Essential for heart development. Marker of one progenitor cell population that give rise to the outflow tract, right ventricle, a subset of left ventricular cells, and a large number of atrial cells as well, its function is required for these progenitors to contribute to the heart. Controls the expression of FGF and BMP growth factors in this cell population and is required for proliferation and survival of cells within pharyngeal foregut endoderm and adjacent splanchnic mesoderm as well as for migration of cardiac progenitors into the heart (By similarity).
GENATLAS Biochemistry:
islet-1 nuclear protein,binding to the enhancer region of the insulin gene,LIM-homeo doamin family

Phenotypes From GWAS Catalog for ISL1 Gene

Gene Ontology (GO) - Molecular Function for ISL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS 19274049
GO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0001102 RNA polymerase II activating transcription factor binding IPI 19619559
GO:0001158 enhancer sequence-specific DNA binding NAS 7789634
genes like me logo Genes that share ontologies with ISL1: view
genes like me logo Genes that share phenotypes with ISL1: view

Human Phenotype Ontology for ISL1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ISL1 Gene

MGI Knock Outs for ISL1:

Animal Model Products

CRISPR Products

miRNA for ISL1 Gene

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

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ISL1

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

Localization for ISL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ISL1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ISL1 gene
Compartment Confidence
nucleus 5
cytoskeleton 2
mitochondrion 2
cytosol 2
plasma membrane 1
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ISL1 Gene

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

Pathways & Interactions 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 by RNA polymerase II ISS --
GO:0001755 neural crest cell migration IEA --
GO:0003007 heart morphogenesis IEA --
GO:0003139 secondary heart field specification IMP 20520780
GO:0003148 outflow tract septum morphogenesis IEA,ISS --
genes like me logo Genes that share ontologies with ISL1: view

No data available for SIGNOR curated interactions for ISL1 Gene

Drugs & Compounds for ISL1 Gene

(1) Drugs for ISL1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for ISL1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ISL1: view

Transcripts for ISL1 Gene

mRNA/cDNA for ISL1 Gene

(2) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(55) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ISL1 Gene

ISL LIM homeobox 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ISL1

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x9.9), Prostate (x6.4), Stomach (x5.9), Esophagus - Gastroesophageal Junction (x5.4), and Cervix - Ectocervix (x4.6).

Protein differential expression in normal tissues from HIPED for ISL1 Gene

This gene is overexpressed in Retina (61.3) and Skin (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ISL1 Gene



Protein tissue co-expression partners for ISL1 Gene

NURSA nuclear receptor signaling pathways regulating expression of ISL1 Gene:

ISL1

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.

Evidence on tissue expression from TISSUES for ISL1 Gene

  • Pancreas(4.5)
  • Blood(4.2)
  • Nervous system(2.7)
  • Eye(2.3)
  • Heart(2.2)
  • Muscle(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ISL1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Abdomen:
  • abdominal wall
  • intestine
  • kidney
Pelvis:
  • anus
  • pelvis
  • penis
  • rectum
  • ureter
  • urethra
  • urinary bladder
  • vulva
General:
  • blood
  • white blood cell
genes like me logo Genes that share expression patterns 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
oppossum
(Monodelphis domestica)
Mammalia ISL1 34
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ISL1 34 33
  • 99.71 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ISL1 34
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ISL1 34
  • 96 (a)
OneToOne
LOC612954 33
  • 95.22 (n)
cow
(Bos Taurus)
Mammalia ISL1 34 33
  • 93.98 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Isl1 33
  • 93.22 (n)
mouse
(Mus musculus)
Mammalia Isl1 16 34 33
  • 93.03 (n)
chicken
(Gallus gallus)
Aves ISL1 34 33
  • 89.49 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ISL1 34
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.10452 33
zebrafish
(Danio rerio)
Actinopterygii isl1 34 33 33
  • 80.99 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta tup 34 35 33
  • 62.23 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010209 33
  • 61.44 (n)
worm
(Caenorhabditis elegans)
Secernentea lim-7 34 33
  • 51.05 (n)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 54 (a)
OneToMany
Cin.14227 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14227 33
Species where no ortholog for ISL1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ISL1: view image

Paralogs for ISL1 Gene

Paralogs for ISL1 Gene

(14) SIMAP similar genes for ISL1 Gene using alignment to 2 proteins:

  • ISL1_HUMAN
  • D6RBJ1_HUMAN
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 Variation AA Info Type
rs2303750 uncertain-significance, Exstrophy of the bladder 51,389,642(+) G/A intron_variant
rs1000119371 -- 51,381,875(+) A/G upstream_transcript_variant
rs1000170854 -- 51,381,473(+) A/G upstream_transcript_variant
rs1000803458 -- 51,384,435(+) G/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000865862 -- 51,391,563(+) C/T intron_variant

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

Variant ID Type Subtype PubMed ID
nsv830288 CNV gain 17160897

Variation tolerance for ISL1 Gene

Residual Variation Intolerance Score: 30.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.63; 56.63% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ISL1 Gene

Human Gene Mutation Database (HGMD)
ISL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ISL1

SNP Genotyping and Copy Number Assay Products

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

Disorders for ISL1 Gene

MalaCards: The human disease database

(12) MalaCards diseases for ISL1 Gene - From: HGMD, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
exstrophy of bladder
  • bladder exstrophy
bladder exstrophy-epispadias-cloacal exstrophy complex
  • eec
spindle cell synovial sarcoma
  • synovial sarcoma with spindle cell components
double outlet right ventricle
  • dextrotransposition of aorta
sensory organ benign neoplasm
- elite association - COSMIC cancer census association via MalaCards
Search ISL1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ISL1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ISL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 [corrected]. (PMID: 7912209) Tanizawa Y … Permutt MA (Diabetes 1994) 2 3 4 22 58
  2. Association study for genes at chromosome 5p13-q11 in attention deficit hyperactivity disorder. (PMID: 18081024) Laurin N … Barr CL (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2008) 3 22 44 58
  3. 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 DJ (Endocrinology 1994) 3 4 22 58
  4. Common variation in ISL1 confers genetic susceptibility for human congenital heart disease. (PMID: 20520780) Stevens KN … Gruber PJ (PloS one 2010) 3 44 58
  5. Early first trimester human embryonic cardiac Islet-1 progenitor cells and cardiomyocytes: Immunohistochemical and electrophysiological characterization. (PMID: 19896915) Genead R … Grinnemo KH (Stem cell research 2010) 3 22 58

Products for ISL1 Gene

Sources for ISL1 Gene

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