Human Gene ISL1 (ENST00000230658.12_4) from GENCODE V47lift37
  Description: ISL LIM homeobox 1 (from RefSeq NM_002202.3)
Gencode Transcript: ENST00000230658.12_4
Gencode Gene: ENSG00000016082.15_7
Transcript (Including UTRs)
   Position: hg19 chr5:50,679,282-50,690,564 Size: 11,283 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg19 chr5:50,679,506-50,689,444 Size: 9,939 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:50,679,282-50,690,564)mRNA (may differ from genome)Protein (349 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ISL1_HUMAN
DESCRIPTION: RecName: Full=Insulin gene enhancer protein ISL-1; Short=Islet-1;
FUNCTION: Binds to one of the cis-acting domain of the insulin gene enhancer.
SUBCELLULAR LOCATION: Nucleus.
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.
SIMILARITY: Contains 1 homeobox DNA-binding domain.
SIMILARITY: Contains 2 LIM zinc-binding domains.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ISL1
Diseases sorted by gene-association score: exstrophy of bladder* (41), spindle cell synovial sarcoma (9), bladder exstrophy-epispadias-cloacal exstrophy complex (8), sensory organ benign neoplasm (7), middle ear adenoma (6), ventricular septal defect (6), tetralogy of fallot (5), conotruncal heart malformations (4), salivary gland cancer (4), maturity-onset diabetes of the young (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 9.76 RPKM in Vagina
Total median expression: 44.80 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -64.30224-0.287 Picture PostScript Text
3' UTR -257.701120-0.230 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR017970 - Homeobox_CS
IPR001356 - Homeodomain
IPR009057 - Homeodomain-like
IPR001781 - Znf_LIM

Pfam Domains:
PF00046 - Homeodomain
PF00412 - LIM domain
PF05920 - Homeobox KN domain

SCOP Domains:
48695 - Multiheme cytochromes
46689 - Homeodomain-like
57716 - Glucocorticoid receptor-like (DNA-binding domain)

ModBase Predicted Comparative 3D Structure on P61371
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
Gene SorterGene Sorter Gene Sorter  
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0001102 RNA polymerase II activating transcription factor binding
GO:0001105 RNA polymerase II transcription coactivator activity
GO:0001158 enhancer sequence-specific DNA binding
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0005515 protein binding
GO:0016922 ligand-dependent nuclear receptor binding
GO:0030331 estrogen receptor binding
GO:0043425 bHLH transcription factor binding
GO:0043565 sequence-specific DNA binding
GO:0046872 metal ion binding
GO:1990841 promoter-specific chromatin binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001755 neural crest cell migration
GO:0003007 heart morphogenesis
GO:0003139 secondary heart field specification
GO:0003148 outflow tract septum morphogenesis
GO:0003151 outflow tract morphogenesis
GO:0003203 endocardial cushion morphogenesis
GO:0003215 cardiac right ventricle morphogenesis
GO:0003266 regulation of secondary heart field cardioblast proliferation
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0007275 multicellular organism development
GO:0007507 heart development
GO:0008284 positive regulation of cell proliferation
GO:0010468 regulation of gene expression
GO:0010575 positive regulation of vascular endothelial growth factor production
GO:0010718 positive regulation of epithelial to mesenchymal transition
GO:0021520 spinal cord motor neuron cell fate specification
GO:0021522 spinal cord motor neuron differentiation
GO:0021524 visceral motor neuron differentiation
GO:0021559 trigeminal nerve development
GO:0021983 pituitary gland development
GO:0030154 cell differentiation
GO:0030182 neuron differentiation
GO:0031016 pancreas development
GO:0031103 axon regeneration
GO:0031290 retinal ganglion cell axon guidance
GO:0032024 positive regulation of insulin secretion
GO:0032725 positive regulation of granulocyte macrophage colony-stimulating factor production
GO:0032729 positive regulation of interferon-gamma production
GO:0032730 positive regulation of interleukin-1 alpha production
GO:0032731 positive regulation of interleukin-1 beta production
GO:0032735 positive regulation of interleukin-12 production
GO:0032755 positive regulation of interleukin-6 production
GO:0032760 positive regulation of tumor necrosis factor production
GO:0033147 negative regulation of intracellular estrogen receptor signaling pathway
GO:0035066 positive regulation of histone acetylation
GO:0042531 positive regulation of tyrosine phosphorylation of STAT protein
GO:0043388 positive regulation of DNA binding
GO:0043524 negative regulation of neuron apoptotic process
GO:0045597 positive regulation of cell differentiation
GO:0045665 negative regulation of neuron differentiation
GO:0045766 positive regulation of angiogenesis
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048663 neuron fate commitment
GO:0048665 neuron fate specification
GO:0048762 mesenchymal cell differentiation
GO:0048880 sensory system development
GO:0048935 peripheral nervous system neuron development
GO:0048936 peripheral nervous system neuron axonogenesis
GO:0050680 negative regulation of epithelial cell proliferation
GO:0050728 negative regulation of inflammatory response
GO:0055010 ventricular cardiac muscle tissue morphogenesis
GO:0060037 pharyngeal system development
GO:0060379 cardiac muscle cell myoblast differentiation
GO:0060384 innervation
GO:0060413 atrial septum morphogenesis
GO:0060913 cardiac cell fate determination
GO:0071385 cellular response to glucocorticoid stimulus
GO:0071657 positive regulation of granulocyte colony-stimulating factor production
GO:0090074 negative regulation of protein homodimerization activity
GO:0090090 negative regulation of canonical Wnt signaling pathway
GO:1901258 positive regulation of macrophage colony-stimulating factor production

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm


-  Descriptions from all associated GenBank mRNAs
  BC031213 - Homo sapiens ISL LIM homeobox 1, mRNA (cDNA clone MGC:39494 IMAGE:5269369), complete cds.
AK290742 - Homo sapiens cDNA FLJ77081 complete cds, highly similar to Homo sapiens ISL1 transcription factor, LIM/homeodomain, (islet-1), mRNA.
BC017027 - Homo sapiens ISL1 transcription factor, LIM/homeodomain, (islet-1), mRNA (cDNA clone IMAGE:3850052), containing frame-shift errors.
U07559 - Human ISL-1 (Islet-1) mRNA, complete cds.
JD404649 - Sequence 385673 from Patent EP1572962.
JD517046 - Sequence 498070 from Patent EP1572962.
JD282552 - Sequence 263576 from Patent EP1572962.
S70721 - isl-1=homeobox {LIM domain} [human, Choriocarcinoma JEG-3 cells, cervical carcinoma HeLa S3 cells, epidermoid carcinoma A-431 cells, mRNA, 1060 nt].
AB528956 - Synthetic construct DNA, clone: pF1KB7691, Homo sapiens ISL1 gene for ISL LIM homeobox 1, without stop codon, in Flexi system.
DQ891558 - Synthetic construct clone IMAGE:100004188; FLH178049.01X; RZPDo839G10126D ISL1 transcription factor, LIM/homeodomain, (islet-1) (ISL1) gene, encodes complete protein.
DQ894746 - Synthetic construct Homo sapiens clone IMAGE:100009206; FLH178045.01L; RZPDo839G10125D ISL1 transcription factor, LIM/homeodomain, (islet-1) (ISL1) gene, encodes complete protein.
EU176619 - Synthetic construct Homo sapiens clone IMAGE:100011592; FLH263650.01L; RZPDo839G06254D ISL LIM homeobox 1 (ISL1) gene, encodes complete protein.
KJ897066 - Synthetic construct Homo sapiens clone ccsbBroadEn_06460 ISL1 gene, encodes complete protein.
JD288679 - Sequence 269703 from Patent EP1572962.
JD155643 - Sequence 136667 from Patent EP1572962.
JD545766 - Sequence 526790 from Patent EP1572962.
JD317934 - Sequence 298958 from Patent EP1572962.
JD543655 - Sequence 524679 from Patent EP1572962.
JD066477 - Sequence 47501 from Patent EP1572962.
JD079954 - Sequence 60978 from Patent EP1572962.
JD403722 - Sequence 384746 from Patent EP1572962.
JD166707 - Sequence 147731 from Patent EP1572962.
JD285115 - Sequence 266139 from Patent EP1572962.
JD046086 - Sequence 27110 from Patent EP1572962.
JD283594 - Sequence 264618 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P61371 (Reactome details) participates in the following event(s):

R-HSA-9010541 ISL1 binds the SLIT2 gene enhancer
R-HSA-9010553 Regulation of expression of SLITs and ROBOs
R-HSA-376176 Signaling by ROBO receptors
R-HSA-422475 Axon guidance
R-HSA-1266738 Developmental Biology

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000230658.1, ENST00000230658.10, ENST00000230658.11, ENST00000230658.2, ENST00000230658.3, ENST00000230658.4, ENST00000230658.5, ENST00000230658.6, ENST00000230658.7, ENST00000230658.8, ENST00000230658.9, ISL1_HUMAN, NM_002202, P20663, P47894, P61371, uc317dtf.1, uc317dtf.2
UCSC ID: ENST00000230658.12_4
RefSeq Accession: NM_002202.3
Protein: P61371 (aka ISL1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.