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Isl1 Gene Detail
Summary
  • Symbol
    Isl1
  • Name
    ISL1 transcription factor, LIM/homeodomain
  • Synonyms
    Islet 1
  • Feature Type
    protein coding gene
  • IDs
    MGI:101791
    NCBI Gene: 16392
  • Gene Overview
    MyGene.info: ISL1
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr13:116298281-116309689 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      11409 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 13, 64.87 cM, cytoband D2.3
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    ISL1, ISL LIM homeobox 1
  • Vertebrate Orthologs
    8
  • Human Ortholog
    ISL1, ISL LIM homeobox 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    Isl-1, ISLET1
  • Links
    NCBI Gene ID: 3670
    neXtProt AC: NX_P61371
    UniProt: P61371

  • Chr Location
    5q11.1; chr5:51383124-51394730 (+)  GRCh38.p7

Human Diseases
less
  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    62 phenotypes from 10 alleles in 9 genetic backgrounds
    94 phenotypes from multigenic genotypes
    3 images
    163 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygotes for a targeted null mutation fail to develop motor neurons and die by embryonic day 11.5 with abnormal heart and pancreas development. Mice heterozygous for an ENU mutation exhibit chronic otitis media and hearing loss.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000039739 VEGA Gene Model | MGI Sequence Detail 11409 C57BL/6J ±  kb
    transcript OTTMUST00000103329 VEGA | MGI Sequence Detail 2516 Not Applicable  
    polypeptide OTTMUSP00000057705 VEGA | MGI Sequence Detail 349 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      116 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 82
      cDNA 33
      Primer pair 14
      Other 35

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-18599
    References
    more
    • Summaries
      All 1234
      Developmental Gene Expression 1107
      Diseases 2
      Gene Ontology 34
      Phenotypes 163
    • Earliest
      J:32884 Karlsson O, et al., Insulin gene enhancer binding protein Isl-1 is a member of a novel class of proteins containing both a homeo- and a Cys-His domain. Nature. 1990 Apr 26;344(6269):879-82
    • Latest
      J:264603 Da Silva F, et al., Myocardial-specific R-spondin3 drives proliferation of the coronary stems primarily through the Leucine Rich Repeat G Protein coupled receptor LGR4. Dev Biol. 2018 Sep 1;441(1):42-51

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    10/09/2018
    MGI 6.12
    The Jackson Laboratory