ISL1 (ISL LIM homeobox 1) - Rat Genome Database

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Gene: ISL1 (ISL LIM homeobox 1) Homo sapiens
Analyze
Symbol: ISL1
Name: ISL LIM homeobox 1
RGD ID: 736062
HGNC Page HGNC:6132
Description: Enables DNA-binding transcription factor activity, RNA polymerase II-specific; DNA-binding transcription factor binding activity; and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in heart development; positive regulation of insulin secretion; and positive regulation of transcription by RNA polymerase II. Predicted to be part of chromatin and transcription regulator complex. Predicted to be active in nucleus. Implicated in atrial fibrillation; congenital heart disease (multiple); diabetes mellitus (multiple); dilated cardiomyopathy; and myocardial infarction.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: insulin gene enhancer protein ISL-1; Isl-1; ISL1 transcription factor, LIM/homeodomain; isl1 transcription factor, lim/homeodomain 1; islet-1; ISLET1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Candidate Gene For: SLEP14_H
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38551,383,448 - 51,394,730 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl551,383,448 - 51,394,730 (+)EnsemblGRCh38hg38GRCh38
GRCh37550,679,282 - 50,690,564 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36550,714,715 - 50,726,321 (+)NCBINCBI36Build 36hg18NCBI36
Build 34550,715,025 - 50,726,310NCBI
Celera547,625,609 - 47,637,216 (+)NCBICelera
Cytogenetic Map5q11.1NCBI
HuRef547,642,569 - 47,654,183 (+)NCBIHuRef
CHM1_1550,681,961 - 50,693,557 (+)NCBICHM1_1
T2T-CHM13v2.0552,202,628 - 52,213,920 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-methylcholine  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3-Nitrobenzanthrone  (EXP)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-fluorouracil  (ISO)
6-propyl-2-thiouracil  (ISO)
acetic acid  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP,ISO)
alpha-Zearalanol  (ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
antimycin A  (EXP)
arachidonic acid  (EXP)
arotinoid acid  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
benzalkonium chloride  (ISO)
benzo[a]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP,ISO)
butanal  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
carbamazepine  (EXP)
CHIR 99021  (EXP)
cortisol  (EXP)
cyclosporin A  (EXP)
DDE  (ISO)
dexamethasone  (ISO)
dorsomorphin  (EXP)
ethanol  (ISO)
folic acid  (ISO)
fulvestrant  (EXP)
glyphosate  (ISO)
homocysteine  (ISO)
inositol  (ISO)
L-ascorbic acid  (EXP,ISO)
L-ascorbic acid 2-phosphate  (EXP)
mercury dibromide  (EXP)
methimazole  (ISO)
methylmercury chloride  (EXP)
Muraglitazar  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
panobinostat  (EXP)
perfluorooctane-1-sulfonic acid  (EXP)
perfluorooctanoic acid  (ISO)
phenylmercury acetate  (EXP)
pioglitazone  (EXP)
ribavirin  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP)
sunitinib  (EXP)
tebufenpyrad  (EXP)
thifluzamide  (EXP)
triacsin C  (EXP)
trichloroethene  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
troglitazone  (ISO)
valproic acid  (EXP,ISO)
vorinostat  (EXP)
XAV939  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
atrial septum morphogenesis  (IEA,ISS)
axon regeneration  (ISO)
axonogenesis  (IBA,IEA)
canonical Wnt signaling pathway  (IEA,ISO)
cardiac cell fate determination  (IDA,IEA,ISO)
cardiac muscle cell myoblast differentiation  (IEA,ISO)
cardiac right ventricle morphogenesis  (IEA,ISS)
cell differentiation  (IEA)
cell population proliferation  (IEA,ISO)
cellular response to glucocorticoid stimulus  (ISS)
cellular response to transforming growth factor beta stimulus  (ISO)
endocardial cushion morphogenesis  (IEA,ISS)
heart development  (IEA,ISO,ISS)
heart morphogenesis  (IEA,ISO)
innervation  (IEA,ISS)
mesenchymal cell differentiation  (IEA,ISO,ISS)
negative regulation of canonical Wnt signaling pathway  (IEA,ISO)
negative regulation of epithelial cell proliferation  (ISO)
negative regulation of inflammatory response  (IEA,ISS)
negative regulation of intracellular estrogen receptor signaling pathway  (ISS)
negative regulation of mesenchymal cell proliferation  (ISO)
negative regulation of neuron apoptotic process  (IEA,ISS)
negative regulation of neuron differentiation  (IEA,ISO)
negative regulation of protein-containing complex assembly  (ISS)
negative regulation of transcription by RNA polymerase II  (IEA,ISS)
neural crest cell migration  (IEA,ISO)
neuron differentiation  (IEA,ISO)
neuron fate commitment  (IEA,ISO)
neuron fate specification  (IBA,IEA,ISS)
outflow tract morphogenesis  (IEA,ISS)
outflow tract septum morphogenesis  (IEA,ISS)
pancreas development  (IEA,ISO,ISS)
peripheral nervous system neuron axonogenesis  (IEA,ISS)
peripheral nervous system neuron development  (IEA,ISO)
pharyngeal system development  (IEA,ISS)
pituitary gland development  (IEA,ISO)
positive regulation of angiogenesis  (IEA,ISS)
positive regulation of calcium ion import  (ISO)
positive regulation of cell differentiation  (IEA,ISS)
positive regulation of cell population proliferation  (IEA,ISO)
positive regulation of epithelial to mesenchymal transition  (ISO)
positive regulation of granulocyte colony-stimulating factor production  (IEA,ISS)
positive regulation of granulocyte macrophage colony-stimulating factor production  (IEA,ISS)
positive regulation of insulin secretion  (IDA,ISO)
positive regulation of interleukin-1 alpha production  (IEA,ISS)
positive regulation of interleukin-1 beta production  (IEA,ISS)
positive regulation of interleukin-12 production  (IEA,ISS)
positive regulation of interleukin-6 production  (IEA,ISS)
positive regulation of macrophage colony-stimulating factor production  (IEA,ISS)
positive regulation of peptidyl-serine phosphorylation  (ISO)
positive regulation of smoothened signaling pathway  (ISO)
positive regulation of transcription by RNA polymerase II  (IBA,IEA,IGI,ISO,ISS)
positive regulation of tumor necrosis factor production  (IEA,ISS)
positive regulation of type B pancreatic cell apoptotic process  (ISO)
positive regulation of type II interferon production  (IEA,ISS)
positive regulation of tyrosine phosphorylation of STAT protein  (IEA,ISO)
positive regulation of vascular endothelial growth factor production  (IEA,ISS)
regulation of DNA-templated transcription  (ISO)
regulation of gene expression  (IEA,ISO)
regulation of heart rate by cardiac conduction  (IEA,ISS)
regulation of secondary heart field cardioblast proliferation  (IEA,ISO)
retinal ganglion cell axon guidance  (IEA,ISO)
secondary heart field specification  (IMP)
sensory system development  (IEA,ISS)
sinoatrial node cell development  (IEA,ISS)
spinal cord motor neuron cell fate specification  (IEA,ISO)
spinal cord motor neuron differentiation  (IEA,ISO,ISS)
stem cell differentiation  (IEA,ISO)
transcription by RNA polymerase II  (IEA,ISO)
trigeminal nerve development  (IEA,ISS)
ventricular cardiac muscle tissue morphogenesis  (IEA,ISS)
visceral motor neuron differentiation  (IEA,ISO)

Cellular Component
chromatin  (IEA,ISA)
cytoplasm  (ISO,NAS)
nucleus  (IBA,IEA,ISO,NAS)
transcription regulator complex  (ISO)

References

References - curated
# Reference Title Reference Citation
1. Positional candidate gene analysis of Lim domain homeobox gene (Isl-1) on chromosome 5q11-q13 in a French morbidly obese population suggests indication for association with type 2 diabetes. Barat-Houari M, etal., Diabetes. 2002 May;51(5):1640-3.
2. Islet-1 gene delivery improves myocardial performance after experimental infarction. Barzelay A, etal., Atherosclerosis. 2012 Aug;223(2):284-90. doi: 10.1016/j.atherosclerosis.2012.05.025. Epub 2012 May 30.
3. ISL1 Is Necessary for Maximal Thyrotrope Response to Hypothyroidism. Castinetti F, etal., Mol Endocrinol. 2015 Oct;29(10):1510-21. doi: 10.1210/me.2015-1192. Epub 2015 Aug 21.
4. Lack of association of the 3'-UTR polymorphism (rs1017) in the ISL1 gene and risk of congenital heart disease in the white population. Cresci M, etal., Pediatr Cardiol. 2013 Apr;34(4):938-41. doi: 10.1007/s00246-012-0578-z. Epub 2012 Nov 15.
5. Interaction and association analysis of a type 1 diabetes susceptibility locus on chromosome 5q11-q13 and the 7q32 chromosomal region in Scandinavian families. Holm P, etal., Diabetes. 2004 Jun;53(6):1584-91.
6. Association between ISL1 variants and susceptibility to ventricular septal defect in a Chinese cohort. Lang J, etal., Mol Diagn Ther. 2013 Apr;17(2):101-6. doi: 10.1007/s40291-013-0033-8.
7. Statin downregulation of miR-652-3p protects endothelium from dyslipidemia by promoting ISL1 expression. Liang L, etal., Metabolism. 2020 Jun;107:154226. doi: 10.1016/j.metabol.2020.154226. Epub 2020 Apr 8.
8. Genetic variations of ISL1 associated with human congenital heart disease in Chinese Han people. Luo ZL, etal., Genet Mol Res. 2014 Feb 28;13(1):1329-38. doi: 10.4238/2014.February.28.5.
9. ISL1 loss-of-function mutation contributes to congenital heart defects. Ma L, etal., Heart Vessels. 2019 Apr;34(4):658-668. doi: 10.1007/s00380-018-1289-z. Epub 2018 Nov 2.
10. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
11. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
12. Common variation in ISL1 confers genetic susceptibility for human congenital heart disease. Stevens KN, etal.
13. MiR-128-3p accelerates cardiovascular calcification and insulin resistance through ISL1-dependent Wnt pathway in type 2 diabetes mellitus rats. Wang XY, etal., J Cell Physiol. 2019 Apr;234(4):4997-5010. doi: 10.1002/jcp.27300. Epub 2018 Oct 20.
14. A New ISL1 Loss-of-Function Mutation Predisposes to Congenital Double Outlet Right Ventricle. Wang Z, etal., Int Heart J. 2019 Sep 27;60(5):1113-1122. doi: 10.1536/ihj.18-685. Epub 2019 Sep 4.
15. ISL1 loss-of-function variation causes familial atrial fibrillation. Wu SH, etal., Eur J Med Genet. 2020 Nov;63(11):104029. doi: 10.1016/j.ejmg.2020.104029. Epub 2020 Aug 6.
16. ISL1 overexpression enhances the survival of transplanted human mesenchymal stem cells in a murine myocardial infarction model. Xiang Q, etal., Stem Cell Res Ther. 2018 Feb 26;9(1):51. doi: 10.1186/s13287-018-0803-7.
17. Identification and Functional Characterization of an ISL1 Mutation Predisposing to Dilated Cardiomyopathy. Xu YJ, etal., J Cardiovasc Transl Res. 2019 Jun;12(3):257-267. doi: 10.1007/s12265-018-9851-8. Epub 2018 Dec 10.
Additional References at PubMed
PMID:1685766   PMID:7789634   PMID:7907017   PMID:7912209   PMID:8565076   PMID:8889548   PMID:9000074   PMID:9452425   PMID:9849969   PMID:10431247   PMID:11043578   PMID:11882901  
PMID:12477932   PMID:15489334   PMID:15839736   PMID:15843409   PMID:16321656   PMID:16713999   PMID:16873704   PMID:17022998   PMID:17363077   PMID:17519333   PMID:18081024   PMID:18239644  
PMID:18454440   PMID:18583962   PMID:19274049   PMID:19571884   PMID:19619559   PMID:19896915   PMID:20211142   PMID:20306291   PMID:20807224   PMID:21060249   PMID:21145461   PMID:21739268  
PMID:21832049   PMID:21873635   PMID:21988832   PMID:22094256   PMID:22194342   PMID:22303449   PMID:22388755   PMID:22480195   PMID:23152444   PMID:23259602   PMID:23348208   PMID:23436614  
PMID:23455924   PMID:23503646   PMID:23805044   PMID:24018375   PMID:24037217   PMID:24131831   PMID:24578274   PMID:24674670   PMID:24751901   PMID:24845569   PMID:24981860   PMID:25015099  
PMID:25070240   PMID:25416956   PMID:25524439   PMID:25609649   PMID:25763902   PMID:25814554   PMID:26077299   PMID:26142548   PMID:26180087   PMID:26186194   PMID:26332997   PMID:26495868  
PMID:27052314   PMID:27107014   PMID:27183908   PMID:27543867   PMID:27578785   PMID:28000708   PMID:28176844   PMID:28473536   PMID:28514442   PMID:29337667   PMID:29606507   PMID:30226569  
PMID:30674889   PMID:30867811   PMID:31024170   PMID:31186351   PMID:31296310   PMID:31515488   PMID:31914083   PMID:32296183   PMID:32544883   PMID:32597291   PMID:32783653   PMID:32820510  
PMID:33476445   PMID:33570246   PMID:33602141   PMID:33864110   PMID:33925933   PMID:33961781   PMID:33962568   PMID:34131100   PMID:34260301   PMID:34753990   PMID:34997427   PMID:35013218  
PMID:35403434   PMID:36170181   PMID:36758343   PMID:36830727   PMID:36950384   PMID:37207277   PMID:37782193   PMID:37863045  


Genomics

Comparative Map Data
ISL1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38551,383,448 - 51,394,730 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl551,383,448 - 51,394,730 (+)EnsemblGRCh38hg38GRCh38
GRCh37550,679,282 - 50,690,564 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36550,714,715 - 50,726,321 (+)NCBINCBI36Build 36hg18NCBI36
Build 34550,715,025 - 50,726,310NCBI
Celera547,625,609 - 47,637,216 (+)NCBICelera
Cytogenetic Map5q11.1NCBI
HuRef547,642,569 - 47,654,183 (+)NCBIHuRef
CHM1_1550,681,961 - 50,693,557 (+)NCBICHM1_1
T2T-CHM13v2.0552,202,628 - 52,213,920 (+)NCBIT2T-CHM13v2.0
Isl1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3913116,434,806 - 116,446,224 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl13116,434,817 - 116,446,225 (-)EnsemblGRCm39 Ensembl
GRCm3813116,298,270 - 116,309,688 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl13116,298,281 - 116,309,689 (-)EnsemblGRCm38mm10GRCm38
MGSCv3713117,088,478 - 117,099,896 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3613117,418,963 - 117,430,370 (-)NCBIMGSCv36mm8
Celera13120,696,034 - 120,707,388 (-)NCBICelera
Cytogenetic Map13D2.2NCBI
cM Map1364.87NCBI
Isl1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8249,813,618 - 49,823,442 (-)NCBIGRCr8
mRatBN7.2248,079,412 - 48,090,704 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl248,080,522 - 48,095,584 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx255,203,901 - 55,213,771 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0253,262,535 - 53,272,409 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0248,114,441 - 48,124,280 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0248,488,911 - 48,501,217 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl248,487,736 - 48,501,436 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0266,871,790 - 66,883,936 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4248,050,124 - 48,060,394 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1247,978,356 - 47,988,627 (-)NCBI
Celera243,808,350 - 43,818,250 (-)NCBICelera
Cytogenetic Map2q14NCBI
Isl1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544615,824,035 - 15,835,046 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495544615,824,956 - 15,835,000 (-)NCBIChiLan1.0ChiLan1.0
ISL1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2462,546,522 - 62,564,217 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1560,700,147 - 60,717,845 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0562,635,095 - 62,650,141 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1564,253,037 - 64,264,674 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl564,252,715 - 64,264,674 (-)Ensemblpanpan1.1panPan2
ISL1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1463,638,009 - 63,648,492 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl463,637,443 - 63,648,183 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha463,397,586 - 63,408,606 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0464,141,344 - 64,152,383 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl464,141,331 - 64,152,087 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1463,906,232 - 63,917,266 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0464,028,384 - 64,039,422 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0464,567,747 - 64,578,778 (-)NCBIUU_Cfam_GSD_1.0
Isl1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213206,869,998 - 206,881,359 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648015,805,247 - 15,817,854 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648015,805,259 - 15,817,854 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ISL1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1630,963,000 - 30,973,907 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11630,962,994 - 30,974,201 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21632,548,015 - 32,559,227 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ISL1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1447,665,861 - 47,678,631 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl447,666,536 - 47,677,552 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660823,504,978 - 3,526,896 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Isl1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247597,994,242 - 8,006,311 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247597,996,177 - 8,006,281 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ISL1
26 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)x1 copy number loss See cases [RCV000050797] Chr5:50288355..63149770 [GRCh38]
Chr5:49584189..62445597 [GRCh37]
Chr5:49619946..62481353 [NCBI36]
Chr5:5q11.1-12.1
pathogenic
GRCh38/hg38 5q11.1-11.2(chr5:50288355-56717370)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051838]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051838]|See cases [RCV000051838] Chr5:50288355..56717370 [GRCh38]
Chr5:49584189..56013197 [GRCh37]
Chr5:49619946..56048954 [NCBI36]
Chr5:5q11.1-11.2
pathogenic
GRCh38/hg38 5q11.1-11.2(chr5:50462100-55862985)x1 copy number loss See cases [RCV000053451] Chr5:50462100..55862985 [GRCh38]
Chr5:49757934..55158813 [GRCh37]
Chr5:49793691..55194570 [NCBI36]
Chr5:5q11.1-11.2
pathogenic
GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3 copy number gain See cases [RCV000137302] Chr5:35201559..61903141 [GRCh38]
Chr5:35201661..61198968 [GRCh37]
Chr5:35237418..61234725 [NCBI36]
Chr5:5p13.2-q12.1
pathogenic
GRCh38/hg38 5p12-q11.2(chr5:45566861-56506493)x3 copy number gain See cases [RCV000138021] Chr5:45566861..56506493 [GRCh38]
Chr5:45566963..55802320 [GRCh37]
Chr5:45602720..55838077 [NCBI36]
Chr5:5p12-q11.2
uncertain significance
GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 copy number gain See cases [RCV000138780] Chr5:22149..74412725 [GRCh38]
Chr5:22149..73708550 [GRCh37]
Chr5:75149..73744306 [NCBI36]
Chr5:5p15.33-q13.3
pathogenic
NM_002202.3(ISL1):c.766-1G>A single nucleotide variant Heart, malformation of [RCV000754892] Chr5:51391273 [GRCh38]
Chr5:50687107 [GRCh37]
Chr5:5q11.1
uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_002202.3(ISL1):c.137C>G (p.Ala46Gly) single nucleotide variant Bladder exstrophy-epispadias-cloacal extrophy complex [RCV000497513] Chr5:51384649 [GRCh38]
Chr5:50680483 [GRCh37]
Chr5:5q11.1
likely pathogenic|uncertain significance
NM_002202.3(ISL1):c.479-4G>A single nucleotide variant Bladder exstrophy-epispadias-cloacal extrophy complex [RCV000497649] Chr5:51389642 [GRCh38]
Chr5:50685476 [GRCh37]
Chr5:5q11.1
uncertain significance
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_002202.3(ISL1):c.849A>T (p.Glu283Asp) single nucleotide variant not specified [RCV004288050] Chr5:51391357 [GRCh38]
Chr5:50687191 [GRCh37]
Chr5:5q11.1
uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32
uncertain significance
NM_002202.3(ISL1):c.513G>A (p.Arg171=) single nucleotide variant not provided [RCV000958790] Chr5:51389680 [GRCh38]
Chr5:50685514 [GRCh37]
Chr5:5q11.1
benign
NM_002202.3(ISL1):c.885C>T (p.Ser295=) single nucleotide variant not provided [RCV000960028] Chr5:51391393 [GRCh38]
Chr5:50687227 [GRCh37]
Chr5:5q11.1
benign
NM_002202.3(ISL1):c.567C>T (p.Asn189=) single nucleotide variant not provided [RCV000958941] Chr5:51389734 [GRCh38]
Chr5:50685568 [GRCh37]
Chr5:5q11.1
benign
NM_002202.3(ISL1):c.541A>T (p.Thr181Ser) single nucleotide variant ISL1-related disorder [RCV003393086] Chr5:51389708 [GRCh38]
Chr5:50685542 [GRCh37]
Chr5:5q11.1
uncertain significance
NM_002202.3(ISL1):c.766-10C>T single nucleotide variant ISL1-related disorder [RCV003968052]|not provided [RCV000886342] Chr5:51391264 [GRCh38]
Chr5:50687098 [GRCh37]
Chr5:5q11.1
likely benign
GRCh37/hg19 5q11.1-11.2(chr5:49430268-53182665)x1 copy number loss not provided [RCV001258850] Chr5:49430268..53182665 [GRCh37]
Chr5:5q11.1-11.2
pathogenic
NM_002202.3(ISL1):c.367C>T (p.Arg123Trp) single nucleotide variant not specified [RCV004331810] Chr5:51387638 [GRCh38]
Chr5:50683472 [GRCh37]
Chr5:5q11.1
uncertain significance
NM_002202.3(ISL1):c.833A>G (p.Gln278Arg) single nucleotide variant not specified [RCV004142260] Chr5:51391341 [GRCh38]
Chr5:50687175 [GRCh37]
Chr5:5q11.1
uncertain significance
NM_002202.3(ISL1):c.622G>T (p.Ala208Ser) single nucleotide variant ISL1-related disorder [RCV003420413]|not specified [RCV004075807] Chr5:51389789 [GRCh38]
Chr5:50685623 [GRCh37]
Chr5:5q11.1
uncertain significance
NM_002202.3(ISL1):c.445C>G (p.Pro149Ala) single nucleotide variant not specified [RCV004232722] Chr5:51387716 [GRCh38]
Chr5:50683550 [GRCh37]
Chr5:5q11.1
uncertain significance
NM_002202.3(ISL1):c.337C>G (p.Gln113Glu) single nucleotide variant not specified [RCV004131424] Chr5:51387608 [GRCh38]
Chr5:50683442 [GRCh37]
Chr5:5q11.1
uncertain significance
NM_002202.3(ISL1):c.886G>A (p.Asp296Asn) single nucleotide variant not specified [RCV004121546] Chr5:51391394 [GRCh38]
Chr5:50687228 [GRCh37]
Chr5:5q11.1
uncertain significance
NM_002202.3(ISL1):c.1019A>G (p.Asn340Ser) single nucleotide variant not specified [RCV004085593] Chr5:51393579 [GRCh38]
Chr5:50689413 [GRCh37]
Chr5:5q11.1
uncertain significance
NM_002202.3(ISL1):c.780G>A (p.Met260Ile) single nucleotide variant not specified [RCV004355189] Chr5:51391288 [GRCh38]
Chr5:50687122 [GRCh37]
Chr5:5q11.1
uncertain significance
NM_002202.3(ISL1):c.38T>A (p.Leu13Gln) single nucleotide variant ISL1-related disorder [RCV003394347] Chr5:51384550 [GRCh38]
Chr5:50680384 [GRCh37]
Chr5:5q11.1
uncertain significance
GRCh37/hg19 5q11.1-11.2(chr5:49984418-50805294)x4 copy number gain not provided [RCV003485347] Chr5:49984418..50805294 [GRCh37]
Chr5:5q11.1-11.2
uncertain significance
GRCh37/hg19 5q11.1(chr5:49526023-50688840)x3 copy number gain not provided [RCV003484611] Chr5:49526023..50688840 [GRCh37]
Chr5:5q11.1
uncertain significance
NM_002202.3(ISL1):c.1024A>G (p.Met342Val) single nucleotide variant ISL1-related disorder [RCV003420852] Chr5:51393584 [GRCh38]
Chr5:50689418 [GRCh37]
Chr5:5q11.1
uncertain significance
NM_002202.3(ISL1):c.869C>T (p.Pro290Leu) single nucleotide variant ISL1-related disorder [RCV003419027] Chr5:51391377 [GRCh38]
Chr5:50687211 [GRCh37]
Chr5:5q11.1
uncertain significance
NM_002202.3(ISL1):c.985G>A (p.Ala329Thr) single nucleotide variant ISL1-related disorder [RCV003392750]|not specified [RCV004362854] Chr5:51393545 [GRCh38]
Chr5:50689379 [GRCh37]
Chr5:5q11.1
uncertain significance
NM_002202.3(ISL1):c.428C>G (p.Ala143Gly) single nucleotide variant ISL1-related disorder [RCV003410408] Chr5:51387699 [GRCh38]
Chr5:50683533 [GRCh37]
Chr5:5q11.1
uncertain significance
NM_002202.3(ISL1):c.526A>G (p.Lys176Glu) single nucleotide variant ISL1-related disorder [RCV003405939] Chr5:51389693 [GRCh38]
Chr5:50685527 [GRCh37]
Chr5:5q11.1
uncertain significance
NM_002202.3(ISL1):c.907A>C (p.Ile303Leu) single nucleotide variant ISL1-related disorder [RCV003417024] Chr5:51391415 [GRCh38]
Chr5:50687249 [GRCh37]
Chr5:5q11.1
uncertain significance
NM_002202.3(ISL1):c.755A>G (p.Asn252Ser) single nucleotide variant ISL1-related disorder [RCV003400420] Chr5:51389922 [GRCh38]
Chr5:50685756 [GRCh37]
Chr5:5q11.1
uncertain significance
GRCh37/hg19 5q11.1-11.2(chr5:49430268-57925870)x1 copy number loss not specified [RCV003986571] Chr5:49430268..57925870 [GRCh37]
Chr5:5q11.1-11.2
likely pathogenic
GRCh37/hg19 5q11.1-11.2(chr5:50270297-52235860)x1 copy number loss not specified [RCV003986572] Chr5:50270297..52235860 [GRCh37]
Chr5:5q11.1-11.2
uncertain significance
GRCh37/hg19 5q11.1-11.2(chr5:49940276-51078552)x1 copy number loss not specified [RCV003986575] Chr5:49940276..51078552 [GRCh37]
Chr5:5q11.1-11.2
uncertain significance
NM_002202.3(ISL1):c.459G>T (p.Ala153=) single nucleotide variant ISL1-related disorder [RCV003956743] Chr5:51387730 [GRCh38]
Chr5:50683564 [GRCh37]
Chr5:5q11.1
likely benign
NM_002202.3(ISL1):c.276G>A (p.Val92=) single nucleotide variant ISL1-related disorder [RCV003921474] Chr5:51387547 [GRCh38]
Chr5:50683381 [GRCh37]
Chr5:5q11.1
likely benign
NM_002202.3(ISL1):c.504A>G (p.Pro168=) single nucleotide variant ISL1-related disorder [RCV003977282] Chr5:51389671 [GRCh38]
Chr5:50685505 [GRCh37]
Chr5:5q11.1
benign
NM_002202.3(ISL1):c.219-4A>G single nucleotide variant ISL1-related disorder [RCV003893744] Chr5:51387486 [GRCh38]
Chr5:50683320 [GRCh37]
Chr5:5q11.1
likely benign
NM_002202.3(ISL1):c.436C>A (p.Pro146Thr) single nucleotide variant ISL1-related disorder [RCV003921591] Chr5:51387707 [GRCh38]
Chr5:50683541 [GRCh37]
Chr5:5q11.1
likely benign
NM_002202.3(ISL1):c.582C>T (p.His194=) single nucleotide variant ISL1-related disorder [RCV003949604] Chr5:51389749 [GRCh38]
Chr5:50685583 [GRCh37]
Chr5:5q11.1
likely benign
NM_002202.3(ISL1):c.957G>A (p.Pro319=) single nucleotide variant ISL1-related disorder [RCV003944263] Chr5:51393517 [GRCh38]
Chr5:50689351 [GRCh37]
Chr5:5q11.1
likely benign
NM_002202.3(ISL1):c.408G>T (p.Val136=) single nucleotide variant ISL1-related disorder [RCV003901466] Chr5:51387679 [GRCh38]
Chr5:50683513 [GRCh37]
Chr5:5q11.1
likely benign
NM_002202.3(ISL1):c.345C>T (p.Ile115=) single nucleotide variant ISL1-related disorder [RCV003909740] Chr5:51387616 [GRCh38]
Chr5:50683450 [GRCh37]
Chr5:5q11.1
likely benign
NM_002202.3(ISL1):c.715C>A (p.Arg239=) single nucleotide variant ISL1-related disorder [RCV003899691] Chr5:51389882 [GRCh38]
Chr5:50685716 [GRCh37]
Chr5:5q11.1
likely benign
NM_002202.3(ISL1):c.1023C>T (p.Ser341=) single nucleotide variant ISL1-related disorder [RCV003949106] Chr5:51393583 [GRCh38]
Chr5:50689417 [GRCh37]
Chr5:5q11.1
likely benign
NM_002202.3(ISL1):c.636G>A (p.Glu212=) single nucleotide variant ISL1-related disorder [RCV003896832] Chr5:51389803 [GRCh38]
Chr5:50685637 [GRCh37]
Chr5:5q11.1
likely benign
NM_002202.3(ISL1):c.219-3C>T single nucleotide variant ISL1-related disorder [RCV003944483] Chr5:51387487 [GRCh38]
Chr5:50683321 [GRCh37]
Chr5:5q11.1
likely benign
NM_002202.3(ISL1):c.48A>G (p.Leu16=) single nucleotide variant ISL1-related disorder [RCV003902058] Chr5:51384560 [GRCh38]
Chr5:50680394 [GRCh37]
Chr5:5q11.1
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:730
Count of miRNA genes:538
Interacting mature miRNAs:610
Transcripts:ENST00000230658, ENST00000505475, ENST00000511384
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
GDB:383820  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37550,682,118 - 50,682,332UniSTSGRCh37
Build 36550,717,875 - 50,718,089RGDNCBI36
Celera547,628,770 - 47,628,984RGD
Cytogenetic Map5q11.1UniSTS
HuRef547,645,730 - 47,645,944UniSTS
D5S2482  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37550,689,989 - 50,690,319UniSTSGRCh37
GRCh37550,689,656 - 50,689,865UniSTSGRCh37
Build 36550,725,413 - 50,725,622RGDNCBI36
Celera547,636,641 - 47,636,971UniSTS
Celera547,636,308 - 47,636,517RGD
Cytogenetic Map5q11.1UniSTS
HuRef547,653,608 - 47,653,938UniSTS
HuRef547,653,275 - 47,653,484UniSTS
Whitehead-YAC Contig Map5 UniSTS
ISL1__6479  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37550,689,806 - 50,690,556UniSTSGRCh37
Build 36550,725,563 - 50,726,313RGDNCBI36
Celera547,636,458 - 47,637,208RGD
HuRef547,653,425 - 47,654,175UniSTS
D10Bir8  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371074,031,269 - 74,032,911UniSTSGRCh37
Celera1067,315,022 - 67,316,663UniSTS
HuRef11113,581,588 - 113,583,076UniSTS
HuRef1068,025,745 - 68,027,386UniSTS
D5S2482  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5q11.1UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High 1
Medium 328 2 19 1 1 2 1 158 88 7 394 60 42 1
Low 977 80 476 168 124 18 690 162 1021 37 618 300 156 1 461 256 4
Below cutoff 860 1006 670 88 429 78 2235 911 1029 64 280 914 13 359 1507 1

Sequence


RefSeq Acc Id: ENST00000230658   ⟹   ENSP00000230658
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl551,383,448 - 51,394,730 (+)Ensembl
RefSeq Acc Id: ENST00000505475
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl551,386,204 - 51,393,567 (+)Ensembl
RefSeq Acc Id: ENST00000511384   ⟹   ENSP00000422676
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl551,383,672 - 51,393,610 (+)Ensembl
RefSeq Acc Id: NM_002202   ⟹   NP_002193
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38551,383,448 - 51,394,730 (+)NCBI
GRCh37550,678,958 - 50,690,564 (+)ENTREZGENE
Build 36550,714,715 - 50,726,321 (+)NCBI Archive
HuRef547,642,569 - 47,654,183 (+)ENTREZGENE
CHM1_1550,681,961 - 50,693,557 (+)NCBI
T2T-CHM13v2.0552,202,628 - 52,213,920 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011543380   ⟹   XP_011541682
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38551,386,189 - 51,394,730 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054352527   ⟹   XP_054208502
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0552,203,920 - 52,213,920 (+)NCBI
RefSeq Acc Id: NP_002193   ⟸   NM_002202
- UniProtKB: P20663 (UniProtKB/Swiss-Prot),   P47894 (UniProtKB/Swiss-Prot),   P61371 (UniProtKB/Swiss-Prot),   A8K3X7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011541682   ⟸   XM_011543380
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000230658   ⟸   ENST00000230658
RefSeq Acc Id: ENSP00000422676   ⟸   ENST00000511384
RefSeq Acc Id: XP_054208502   ⟸   XM_054352527
- Peptide Label: isoform X1
Protein Domains
Homeobox   LIM zinc-binding

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P61371-F1-model_v2 AlphaFold P61371 1-349 view protein structure

Promoters
RGD ID:6869568
Promoter ID:EPDNEW_H7949
Type:initiation region
Name:ISL1_1
Description:ISL LIM homeobox 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38551,383,448 - 51,383,508EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6132 AgrOrtholog
COSMIC ISL1 COSMIC
Ensembl Genes ENSG00000016082 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000230658 ENTREZGENE
  ENST00000230658.12 UniProtKB/Swiss-Prot
  ENST00000511384.1 UniProtKB/TrEMBL
Gene3D-CATH Cysteine Rich Protein UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Homeodomain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000016082 GTEx
HGNC ID HGNC:6132 ENTREZGENE
Human Proteome Map ISL1 Human Proteome Map
InterPro Homeobox-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Homeobox_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Homeobox_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ISL1/2-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ISL1/2-like_LIM1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_LIM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3670 UniProtKB/Swiss-Prot
NCBI Gene 3670 ENTREZGENE
OMIM 600366 OMIM
PANTHER INSULIN GENE ENHANCER PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  INSULIN GENE ENHANCER PROTEIN ISL-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Homeodomain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LIM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29932 PharmGKB
PROSITE HOMEOBOX_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HOMEOBOX_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LIM_DOMAIN_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LIM_DOMAIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART HOX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LIM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Glucocorticoid receptor-like (DNA-binding domain) UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF46689 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K3X7 ENTREZGENE, UniProtKB/TrEMBL
  D6RBJ1_HUMAN UniProtKB/TrEMBL
  ISL1_HUMAN UniProtKB/Swiss-Prot
  P20663 ENTREZGENE
  P47894 ENTREZGENE
  P61371 ENTREZGENE
UniProt Secondary P20663 UniProtKB/Swiss-Prot
  P47894 UniProtKB/Swiss-Prot