ISL1

Chr 5q11.1

ISL LIM homeobox 1

Aliases:: Isl-1, ISLET1
MANE:: ENST00000230658.12

OMIM: 600366 ↗NCBI: 3670 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

ISL1 · P61371

v62025-08-01

Predicted Aligned Error matrix for ISL1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

71.9/ 100

Confident

349 residues

Confidence breakdown

Very high(≥ 90)36%
Confident(70–90)23%
Low(50–70)11%
Very low(< 50)30%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Paediatric disorders - additional genes
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
CAKUT
Unknown

Disease associations (Open Targets)

congenital heart disease
0.47
neurodegenerative disease
0.46
risk-taking behaviour
0.40
bladder exstrophy
0.40
diabetes mellitus
0.37
type 2 diabetes mellitus
0.37
Umbilical hernia
0.36
stroke disorder
0.33
alcohol drinking
0.33
hemorrhoid
0.32

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Insulin gene enhancer protein ISL-1

DNA-binding transcriptional activator. Recognizes and binds to the consensus octamer binding site 5'-ATAATTAA-3' in promoter of target genes. Plays a fundamental role in the gene regulatory network essential for retinal ganglion cell (RGC) differentiation. Cooperates with the transcription factor POU4F2 to achieve maximal levels of expression of RGC target genes and RGC fate specification in the developing retina. Involved in the specification of motor neurons in cooperation with LHX3 and LDB1 (By similarity). Binds to insulin gene enhancer sequences (By similarity). Essential for heart development. Marker of one progenitor cell population that give rise to the outflow tract, right ventricle, a subset of left ventricular cells, and a large number of atrial cells as well, its function is required for these progenitors to contribute to the heart. Controls the expression of FGF and BMP growth factors in this cell population and is required for proliferation and survival of cells within pharyngeal foregut endoderm and adjacent splanchnic mesoderm as well as for migration of cardiac progenitors into the heart (By similarity)