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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
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:116434817-116446225 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 13, 64.87 cM, cytoband D2.3
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    293 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_101791
 protein coding gene Chr13:116434806-116446225 (-)
129S1/SvImJ MGP_129S1SvImJ_G0020961
 protein coding gene Chr13:119182028-119198188 (-)
A/J MGP_AJ_G0020911
 protein coding gene Chr13:114288681-114299906 (-)
AKR/J MGP_AKRJ_G0020886
 protein coding gene Chr13:117724891-117736194 (-)
BALB/cJ MGP_BALBcJ_G0020911
 protein coding gene Chr13:115020799-115032088 (-)
C3H/HeJ MGP_C3HHeJ_G0020700
 protein coding gene Chr13:117573780-117585102 (-)
C57BL/6NJ MGP_C57BL6NJ_G0021347
 protein coding gene Chr13:122600050-122611356 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0018916
 protein coding gene Chr13:109496024-109507441 (-)
CAST/EiJ MGP_CASTEiJ_G0020219
 protein coding gene Chr13:117324262-117335585 (-)
CBA/J MGP_CBAJ_G0020662
 protein coding gene Chr13:127341197-127365124 (-)
DBA/2J MGP_DBA2J_G0020785
 protein coding gene Chr13:113997130-114008657 (-)
FVB/NJ MGP_FVBNJ_G0020769
 protein coding gene Chr13:112631170-112642486 (-)
LP/J MGP_LPJ_G0020861
 protein coding gene Chr13:119151892-119163192 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0020797
 protein coding gene Chr13:127691567-127702891 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0021383
 protein coding gene Chr13:117232597-117244572 (-)
PWK/PhJ MGP_PWKPhJ_G0019972
 protein coding gene Chr13:112817742-112829258 (-)
SPRET/EiJ MGP_SPRETEiJ_G0019794
 protein coding gene Chr13:113567100-113582170 (-)
WSB/EiJ MGP_WSBEiJ_G0020277
 protein coding gene Chr13:117877767-117889066 (-)



Homology
more
  • Human Ortholog
    ISL1, ISL LIM homeobox 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ISL1, ISL LIM homeobox 1
  • Synonyms
    Isl-1, ISLET1
  • Links
    NCBI Gene ID: 3670
    neXtProt AC: NX_P61371
    UniProt: P61371

  • Chr Location
    5q11.1; chr5:51383448-51394730 (+)  GRCh38
Human Diseases
more
  • Diseases
    9 with human ISL1 associations

Human Disease Mouse Models
      
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    62 phenotypes from 10 alleles in 9 genetic backgrounds
    130 phenotypes from multigenic genotypes
    3 images
    268 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
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
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
less
  • All GO Annotations
    127
  • GO References
    39
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    3349
  • Tissues
    846
  • cDNA Data
    28
  • Literature Summary
    1437
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000042258 Ensembl Gene Model | MGI Sequence Detail 11409 C57BL/6J ±  kb
    transcript ENSMUST00000036060 Ensembl | MGI Sequence Detail 2516 Not Applicable  
    polypeptide ENSMUSP00000044879 Ensembl | MGI Sequence Detail 349 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 137
      cDNA 40
      Primer pair 30
      Other 67

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-18599
    References
    more
    • Summaries
      All 1629
      Developmental Gene Expression 1437
      Diseases 3
      Gene Ontology 39
      Phenotypes 268
    • 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:359451 Amato CM, et al., An extragenital cell population contributes to urethra closure during mouse penis development. Sci Adv. 2024 Dec 6;10(49):eadp0673
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/17/2024
    MGI 6.24     		The Jackson Laboratory