ISL1 (ISL LIM homeobox 1)

2011-10-01  

Identity

HGNC
ISL1
LOCATION
5q11.1
LOCUSID
3670
ALIAS
ISLET1,Isl-1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3670
MIM: 600366
HGNC: 6132
Ensembl: ENSG00000016082

Variants:

dbSNP: 3670
ClinVar: 3670
TCGA: ENSG00000016082
COSMIC: ISL1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000016082ENST00000230658P61371
ENSG00000016082ENST00000511384D6RBJ1

Expression (GTEx)

0
5
10
15
20
25
30
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Signaling pathways regulating pluripotency of stem cellsKEGGhsa04550
Signaling pathways regulating pluripotency of stem cellsKEGGko04550
Metabolism of proteinsREACTOMER-HSA-392499
Peptide hormone metabolismREACTOMER-HSA-2980736
Incretin synthesis, secretion, and inactivationREACTOMER-HSA-400508
Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP)REACTOMER-HSA-400511

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA24684AKT1GenePathwayassociated

References

Pubmed IDYearTitleCitations
195718842009Human ISL1 heart progenitors generate diverse multipotent cardiovascular cell lineages.207
175193332007Beta-catenin directly regulates Islet1 expression in cardiovascular progenitors and is required for multiple aspects of cardiogenesis.96
250150992014TCF7L2 is a master regulator of insulin production and processing.46
203062912010A three-stage genome-wide association study of general cognitive ability: hunting the small effects.36
234366142013HOXA9, ISL1 and ALDH1A3 methylation patterns as prognostic markers for nonmuscle invasive bladder cancer: array-based DNA methylation and expression profiling.34
185839622008Implementing the LIM code: the structural basis for cell type-specific assembly of LIM-homeodomain complexes.31
255244392015Direct nkx2-5 transcriptional repression of isl1 controls cardiomyocyte subtype identity.30
205207802010Common variation in ISL1 confers genetic susceptibility for human congenital heart disease.28
205207802010Common variation in ISL1 confers genetic susceptibility for human congenital heart disease.28
240183752013Driving vascular endothelial cell fate of human multipotent Isl1+ heart progenitors with VEGF modified mRNA.28

Citation

Dessen P

ISL1 (ISL LIM homeobox 1)

Atlas Genet Cytogenet Oncol Haematol. 2011-10-01

Online version: http://atlasgeneticsoncology.org/gene/52393/isl1