EML1

Chr 14q32.2

EMAP like 1

Aliases:: EMAP, HuEMAP, ELP79
MANE:: ENST00000262233.11

OMIM: 602033 ↗NCBI: 2009 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

EML1 · O00423

v62025-08-01

Predicted Aligned Error matrix for EML1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

86.0/ 100

Confident

815 residues

Confidence breakdown

Very high(≥ 90)75%
Confident(70–90)9%
Low(50–70)2%
Very low(< 50)14%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Malformations of cortical development
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

subcortical band heterotopia
0.78
Abnormality of the skeletal system
0.45
atrial fibrillation
0.42
coronary artery disorder
0.41
angina pectoris
0.29
non-neoplastic bile duct disorder
0.26
poisoning
0.20
hereditary disease
0.19
placental retention
0.15
bile duct disorder
0.13

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

Protein function (UniProt)

Echinoderm microtubule-associated protein-like 1

Modulates the assembly and organization of the microtubule cytoskeleton, and probably plays a role in regulating the orientation of the mitotic spindle and the orientation of the plane of cell division. Required for normal proliferation of neuronal progenitor cells in the developing brain and for normal brain development. Does not affect neuron migration per se