CERS1

Chr 19p13.11

ceramide synthase 1

Aliases:: LAG1, UOG1
MANE:: ENST00000623882.4

OMIM: 606919 ↗NCBI: 10715 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

CERS1 · P27544

v62025-08-01

Predicted Aligned Error matrix for CERS1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

88.4/ 100

Confident

350 residues

Confidence breakdown

Very high(≥ 90)73%
Confident(70–90)15%
Low(50–70)5%
Very low(< 50)7%

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

Disease associations (Open Targets)

Progressive myoclonic epilepsy
0.67
right atrial isomerism
0.54
congenital heart defects, multiple types, 6
0.53
neurodegenerative disease
0.37
visceral heterotaxy
0.37
Heterotaxia
0.37
congenital heart defects, multiple types
0.34
transposition of the great arteries
0.33
hereditary disease
0.33
Tetralogy of Fallot
0.33

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

Protein function (UniProt)

Ceramide synthase 1

Ceramide synthase that catalyzes the transfer of the acyl chain from acyl-CoA to a sphingoid base, with high selectivity toward stearoyl-CoA (octadecanoyl-CoA; C18:0-CoA) (PubMed:17977534, PubMed:23530041, PubMed:26887952, PubMed:31916624). N-acylates sphinganine and sphingosine bases to form dihydroceramides and ceramides in de novo synthesis and salvage pathways, respectively (PubMed:17977534, PubMed:23530041, PubMed:24782409, PubMed:26887952, PubMed:31916624). Plays a predominant role in skeletal muscle in regulating C18 ceramide and dihydroceramide levels with an impact on whole-body glucose metabolism and insulin sensitivity. Protects from diet-induced obesity by suppressing the uptake of glucose in multiple organs in a FGF21-dependent way (By similarity). Generates C18 ceramides in the brain, playing a critical role in cerebellar development and Purkinje cell function (By similarity). In response to cellular stress mediates mitophagy, a known defense mechanism against cell transformation and aging. Upon mitochondria fission, generates C18 ceramides that anchor lipidated MAP1LC3B/LC3B-II autophagolysosomes to outer mitochondrial membranes to eliminate damaged mitochondria (PubMed:22922758)