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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CERT1
ceramide transporter 1
Chromosome 5 Β· 5q13.3
NCBI Gene: 10087Ensembl: ENSG00000113163.19HGNC: HGNC:2205UniProt: A0A2R8Y7C5
90PubMed Papers
21Diseases
0Drugs
13Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
perinuclear region of cytoplasmprotein bindingceramide bindingceramide transfer activityintellectual disability, autosomal dominant 34genetic disordermuscular dystrophy, limb-girdle, autosomal recessive 28Intellectual disability
✦AI Summary

CERT1 (ceramide transporter 1) is a lipid transfer protein that mediates non-vesicular trafficking of ceramides from the endoplasmic reticulum to the Golgi apparatus 12. The protein harbors a steroidogenic acute regulatory lipid transfer (START) domain that shelters ceramide molecules and preferentially transfers those with long-chain fatty acids, though it exhibits minimal activity toward very long-chain ceramides 23. CERT1 functions through a previously uncharacterized dimeric helical domain that enables homeostatic autoregulation via serine-repeat motif (SRM) hyperphosphorylation; disruption of this mechanism causes unchecked sphingolipid production 4. De novo missense variants in CERT1 cause ceramide transporter (CerTra) syndrome, characterized by intellectual disability, hypotonia, and speech delay, with clinical severity correlating to the degree of disrupted CERT autoregulation 45. Pathogenic mutations impair SRM phosphorylation-dependent repression, rendering CERT excessively active and causing aberrant subcellular redistribution 5. Beyond developmental disorders, plasma ceramide-based risk scores (CERT1) derived from specific ceramide species predict cardiovascular mortality and adverse outcomes independent of traditional risk factors 678, and associate with prevalent rheumatoid arthritis 9.

Sources cited
1
CERT1 mediates ceramide trafficking from ER to Golgi via its START domain
PMID: 14685229
2
CERT1 preferentially transfers long-chain ceramides but not very long-chain ceramides
PMID: 15596449
3
CERT1 selectively transfers long-chain ceramides with minimal activity on very long-chain variants
PMID: 18184806
4
CERT1 mutations disrupt sphingolipid homeostasis through impaired autoregulation; mutations in dimeric helical domain cause CerTra syndrome
PMID: 36976648
5
ID-associated CERT1 variants impair SRM phosphorylation-dependent repression, causing excessive CERT activity and subcellular redistribution
PMID: 34688657
6
CERT1 score predicts all-cause and noncardiovascular mortality in type 2 diabetes independent of cardiorenal risk factors
PMID: 38849301
7
CERT1 improves risk prediction for overall mortality and adverse CVD outcomes beyond traditional risk factors
PMID: 39726197
8
Pre- and post-stress CERT1 risk categories predict long-term mortality and myocardial infarction in CAD patients
PMID: 39428276
9
CERT1 and CERT2 scores associate with prevalent rheumatoid arthritis in population-based cohort
PMID: 40074276
Disease Associationsβ“˜21
intellectual disability, autosomal dominant 34Open Targets
0.58Moderate
genetic disorderOpen Targets
0.45Moderate
muscular dystrophy, limb-girdle, autosomal recessive 28Open Targets
0.43Moderate
Intellectual disabilityOpen Targets
0.37Weak
complex neurodevelopmental disorderOpen Targets
0.37Weak
limb-girdle muscular dystrophyOpen Targets
0.34Weak
alcohol drinkingOpen Targets
0.23Weak
hyperlipidemiaOpen Targets
0.20Weak
type 2 diabetes mellitusOpen Targets
0.17Weak
microcephalyOpen Targets
0.12Weak
Neurodevelopmental abnormalityOpen Targets
0.12Weak
Spastic paraparesisOpen Targets
0.12Weak
obstructive sleep apneaOpen Targets
0.10Weak
Blackfan-Diamond anemiaOpen Targets
0.08Suggestive
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.08Suggestive
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
0.08Suggestive
metabolic syndromeOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.07Suggestive
cancerOpen Targets
0.07Suggestive
acute myeloid leukemiaOpen Targets
0.07Suggestive
Neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic faciesUniProt
Pathogenic Variants13
NM_001379029.1(CERT1):c.404C>T (p.Ser135Phe)Likely pathogenic
Inborn genetic diseases|Intellectual disability, autosomal dominant 34
β˜…β˜…β˜†β˜†2025β†’ Residue 135
NM_001379029.1(CERT1):c.191G>T (p.Gly64Val)Likely pathogenic
Intellectual disability, autosomal dominant 34
β˜…β˜†β˜†β˜†2025β†’ Residue 64
NM_001379029.1(CERT1):c.740C>T (p.Thr247Ile)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 247
NM_001379029.1(CERT1):c.887C>G (p.Thr296Arg)Likely pathogenic
Intellectual disability, autosomal dominant 34
β˜…β˜†β˜†β˜†2024β†’ Residue 296
NM_001379029.1(CERT1):c.1742C>T (p.Ala581Val)Likely pathogenic
Intellectual disability, autosomal dominant 34
β˜…β˜†β˜†β˜†2023β†’ Residue 581
NM_001379029.1(CERT1):c.957AGA[1] (p.Glu321del)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 321
NM_001379029.1(CERT1):c.496A>G (p.Thr166Ala)Likely pathogenic
Intellectual disability, autosomal dominant 34
β˜…β˜†β˜†β˜†2020β†’ Residue 166
NM_001379029.1(CERT1):c.-114G>TPathogenic
Intellectual disability, autosomal dominant 34
β˜…β˜†β˜†β˜†2018
NM_001379029.1(CERT1):c.394T>C (p.Ser132Pro)Pathogenic
not provided
β˜…β˜†β˜†β˜†2017β†’ Residue 132
NM_001379029.1(CERT1):c.475G>A (p.Glu159Lys)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2017β†’ Residue 159
NM_001379029.1(CERT1):c.170C>A (p.Ser57Tyr)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2016β†’ Residue 57
NM_001379029.1(CERT1):c.728G>C (p.Gly243Ala)Likely pathogenic
Intellectual disability, autosomal dominant 34
β˜…β˜†β˜†β˜†β†’ Residue 243
NM_001379029.1(CERT1):c.-226G>ALikely pathogenic
not provided
β˜†β˜†β˜†β˜†2023
View on ClinVar β†—
Related Genes
PRKD2Protein interaction98%CSNK1G2Protein interaction96%APCSProtein interaction86%COL4A3Protein interaction83%STARD3Protein interaction81%VEGFAProtein interaction80%
Tissue Expression6 tissues
Brain
100%
Heart
97%
Bone Marrow
91%
Lung
81%
Ovary
65%
Liver
62%
Gene Interaction Network
Click a node to explore
CERT1PRKD2CSNK1G2APCSCOL4A3STARD3VEGFA
PROTEIN STRUCTURE
Preparing viewer…
PDB2E3N Β· 1.40 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.66LoF Tolerant
pLIβ“˜
0.10Tolerant
Observed/Expected LoF0.44 [0.30–0.66]
RankingsWhere CERT1 stands among ~20K protein-coding genes
  • #5,294of 20,598
    Most Researched90
  • #2,590of 5,498
    Most Pathogenic Variants13
  • #4,788of 17,882
    Most Constrained (LOEUF)0.66
Genes detectedCERT1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.
PMID: 36976648
J Clin Invest Β· 2023
1.00
2
Large-scale discovery of novel genetic causes of developmental disorders.
PMID: 25533962
Nature Β· 2015
0.90
3
Intellectual-disability-associated mutations in the ceramide transport protein gene CERT1 lead to aberrant function and subcellular distribution.
PMID: 34688657
J Biol Chem Β· 2021
0.80
4
Ceramide Risk Score in the Evaluation of Metabolic Syndrome: An Additional or Substitutive Biochemical Marker in the Clinical Practice?
PMID: 37569827
Int J Mol Sci Β· 2023
0.70
5
Plasma Ceramides Predict All-Cause and Cause-Specific Mortality in Individuals With Type 2 Diabetes.
PMID: 38849301
J Clin Endocrinol Metab Β· 2025
0.60