ISL1
Insulin gene enhancer protein ISL-1
Also known as: Isl-1, ISL1_HUMAN, ISLET1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P61371
- Gene
- ISL1
- Ensembl
- ENSG00000016082
- Chromosome
- 5
- Canonical length
- 349 aa
- Protein class
- Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm,Nuclear speckles,Mitochondria
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
349 residues, UniProt reviewed canonical sequence.
>P61371|ISL1
1 MGDMGDPPKK KRLISLCVGC GNQIHDQYIL RVSPDLEWHA ACLKCAECNQ YLDESCTCFV
61 RDGKTYCKRD YIRLYGIKCA KCSIGFSKND FVMRARSKVY HIECFRCVAC SRQLIPGDEF
121 ALREDGLFCR ADHDVVERAS LGAGDPLSPL HPARPLQMAA EPISARQPAL RPHVHKQPEK
181 TTRVRTVLNE KQLHTLRTCY AANPRPDALM KEQLVEMTGL SPRVIRVWFQ NKRCKDKKRS
241 IMMKQLQQQQ PNDKTNIQGM TGTPMVAASP ERHDGGLQAN PVEVQSYQPP WKVLSDFALQ
301 SDIDQPAFQQ LVNFSEGGPG SNSTGSEVAS MSSQLPDTPN SMVASPIEALocalizationUniProt · AlphaFold · HPA
Whether an antibody against ISL1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.48
- Highest tissue expression
- 21 nTPM
Expression across tissuesHPA
Tissue
- retina: 21 nTPM
- seminal vesicle: 18 nTPM
- vagina: 15 nTPM
- prostate: 12 nTPM
- stomach: 9.4 nTPM
- cervix: 8.7 nTPM
Single-cell type
- retinal bipolar cells: 226 nCPM
- pancreatic islet cells: 194 nCPM
- neuroendocrine cells: 63 nCPM
- retinal horizontal cells: 60 nCPM
- cytotrophoblasts: 57 nCPM
- medullary thymic epithelial cells: 43 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- hypothalamus: 24 nTPM
- cerebral cortex: 3.8 nTPM
- basal ganglia: 3.1 nTPM
- pons: 2.7 nTPM
- medulla oblongata: 2.3 nTPM
- thalamus: 1.2 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about ISL1.
Disease | ImmuneIEDB
Conditions an epitope on ISL1 was assayed in.
- type 1 diabetes mellitus T cell
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.41
- gnomAD pLI
- 0.87
- gnomAD missense Z
- 1.87
- DepMap mean gene effect
- -0.08
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- atrial septum morphogenesis
- axon regeneration
- axonogenesis
- canonical Wnt signaling pathway
- cardiac cell fate determination
- cardiac muscle cell myoblast differentiation
- cardiac right ventricle morphogenesis
- cell population proliferation
- cellular response to glucocorticoid stimulus
- cellular response to transforming growth factor beta stimulus
- endocardial cushion morphogenesis
- heart development
- innervation
- mesenchymal cell differentiation
- negative regulation of canonical Wnt signaling pathway
- negative regulation of epithelial cell proliferation
- negative regulation of inflammatory response
- negative regulation of intracellular estrogen receptor signaling pathway
- negative regulation of mesenchymal cell proliferation
- negative regulation of neuron apoptotic process
- negative regulation of neuron differentiation
- negative regulation of protein-containing complex assembly
- negative regulation of transcription by RNA polymerase II
- neural crest cell migration
- neuron fate specification
- outflow tract morphogenesis
- outflow tract septum morphogenesis
- pancreas development
- peripheral nervous system neuron axonogenesis
- pharyngeal system development
- pituitary gland development
- positive regulation of angiogenesis
- positive regulation of calcium ion import
- positive regulation of cell differentiation
- positive regulation of cell population proliferation
- positive regulation of epithelial to mesenchymal transition
- positive regulation of granulocyte colony-stimulating factor production
- positive regulation of granulocyte macrophage colony-stimulating factor production
- positive regulation of insulin secretion
- positive regulation of interleukin-1 alpha production
- positive regulation of interleukin-1 beta production
- positive regulation of interleukin-12 production
- positive regulation of interleukin-6 production
- positive regulation of smoothened signaling pathway
- positive regulation of transcription by RNA polymerase II
- positive regulation of tumor necrosis factor production
- positive regulation of type B pancreatic cell apoptotic process
- positive regulation of type II interferon production
- positive regulation of vascular endothelial growth factor production
- regulation of heart rate by cardiac conduction
- regulation of secondary heart field cardioblast proliferation
- retinal ganglion cell axon guidance
- secondary heart field specification
- sensory system development
- sinoatrial node cell development
- spinal cord motor neuron cell fate specification
- spinal cord motor neuron differentiation
- transcription by RNA polymerase II
- trigeminal nerve development
- ventricular cardiac muscle tissue morphogenesis
- visceral motor neuron differentiation
- positive regulation of macrophage colony-stimulating factor production
Molecular functions
- bHLH transcription factor binding
- cis-regulatory region sequence-specific DNA binding
- core promoter sequence-specific DNA binding
- DNA-binding transcription activator activity, RNA polymerase II-specific
- DNA-binding transcription factor activity, RNA polymerase II-specific
- LIM domain binding
- metal ion binding
- nuclear estrogen receptor binding
- nuclear receptor binding
- promoter-specific chromatin binding
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- RNA polymerase II-specific DNA-binding transcription factor binding
- sequence-specific double-stranded DNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of ISL1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads ISL1 as an antibody target. Whether an autoantibody or antibody against ISL1 could matter depends on whether native ISL1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ISL1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label ISL1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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