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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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NECAP1
NECAP endocytosis associated 1
Chromosome 12 Β· 12p13.31
NCBI Gene: 25977Ensembl: ENSG00000089818.18HGNC: HGNC:24539UniProt: Q8NC96
40PubMed Papers
21Diseases
0Drugs
5Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingvesicle-mediated transportclathrin vesicle coatcytosolundetermined early-onset epileptic encephalopathygenetic developmental and epileptic encephalopathygenetic disorderdevelopmental and epileptic encephalopathy
✦AI Summary

NECAP1 (NECAP endocytosis associated 1) is a clathrin-accessory protein primarily involved in clathrin-mediated endocytosis, particularly regulating synaptic vesicle recycling 1. The protein is highly enriched in the central nervous system and localizes to neuronal clathrin-coated vesicles 2, where it modulates synaptic vesicle dynamics through its interaction with clathrin-coated pits and vesicles 3. NECAP1 contains a conserved WXXF motif critical for its endocytic function 2. Loss of NECAP1 function causes Developmental and Epileptic Encephalopathy 21 (EIEE21), characterized by early infantile-onset seizures, developmental delay, severe hypotonia, microcephaly, delayed myelination, and brain abnormalities 4. Both truncating mutations and missense variants trigger pathogenic effects; truncating variants activate nonsense-mediated decay, while missense mutations impair protein function 21. The seizure mechanism likely involves impaired synaptic vesicle recycling, linking endocytic trafficking to epileptogenesis 2. Beyond neurology, NECAP1 DNA methylation patterns in maternal blood associate with offspring birthweight, suggesting involvement in maternal-fetal metabolic processes 5. Mutations in NECAP1 also cause progressive retinal atrophy in dogs, indicating evolutionary conservation of retinal function 3.

Sources cited
1
NECAP1 is a clathrin-accessory protein regulating clathrin-mediated endocytosis in synapses; highly enriched in the central nervous system; mutations cause early infantile epileptic encephalopathy
PMID: 24399846
2
NECAP1 protein enriched in neuronal clathrin-coated vesicles; modulates synaptic vesicle recycling; contains WXXF motif; loss of function causes EIEE21; truncating variants trigger nonsense-mediated decay
PMID: 30626896
3
NECAP1 mutations cause severe generalized hypotonia, poor feeding, developmental delay, severe microcephaly, delayed myelination, corpus callosum abnormalities, and eye abnormalities in EIEE
PMID: 35638367
4
NECAP1 mutations cause progressive retinal atrophy in dogs; role in clathrin-mediated endocytosis in synapses; implicated in retinal degeneration across species
PMID: 31117272
5
NECAP1 DNA methylation in maternal blood associates with offspring birthweight; involved in endocytosis pathway supporting maternal-fetal interface
PMID: 32754889
Disease Associationsβ“˜21
undetermined early-onset epileptic encephalopathyOpen Targets
0.60Moderate
genetic developmental and epileptic encephalopathyOpen Targets
0.57Moderate
genetic disorderOpen Targets
0.19Weak
developmental and epileptic encephalopathyOpen Targets
0.18Weak
liver diseaseOpen Targets
0.11Weak
retinal degenerationOpen Targets
0.03Suggestive
Epileptic encephalopathyOpen Targets
0.01Suggestive
infantile epileptic encephalopathyOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.01Suggestive
chronic kidney diseaseOpen Targets
0.01Suggestive
Retinal atrophyOpen Targets
0.01Suggestive
ataxia telangiectasiaOpen Targets
0.01Suggestive
early-infantile DEEOpen Targets
0.00Suggestive
epilepsyOpen Targets
0.00Suggestive
astrocytomaOpen Targets
0.00Suggestive
infectionOpen Targets
0.00Suggestive
strokeOpen Targets
0.00Suggestive
urolithiasisOpen Targets
0.00Suggestive
acute myeloid leukemiaOpen Targets
0.00Suggestive
Parkinson diseaseOpen Targets
0.00Suggestive
Developmental and epileptic encephalopathy 21UniProt
Pathogenic Variants5
NM_015509.4(NECAP1):c.38_39dup (p.Lys14Ter)Likely pathogenic
Developmental and epileptic encephalopathy, 21
β˜…β˜†β˜†β˜†2022β†’ Residue 14
NM_015509.4(NECAP1):c.258_273del (p.Asp87fs)Pathogenic
Developmental and epileptic encephalopathy, 21
β˜…β˜†β˜†β˜†2022β†’ Residue 87
NM_015509.4(NECAP1):c.38_39del (p.Val13fs)Pathogenic
not provided
β˜†β˜†β˜†β˜†2021β†’ Residue 13
NM_015509.4(NECAP1):c.301+1G>APathogenic
Developmental and epileptic encephalopathy, 21
β˜†β˜†β˜†β˜†2020
NM_015509.4(NECAP1):c.142C>T (p.Arg48Ter)Pathogenic
Developmental and epileptic encephalopathy, 21
β˜†β˜†β˜†β˜†2014β†’ Residue 48
View on ClinVar β†—
Related Genes
RINLShared pathway100%CLTCProtein interaction100%CLTCL1Protein interaction100%AP2B1Protein interaction97%ITSN2Protein interaction89%UBE2J2Protein interaction88%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
33%
Ovary
15%
Liver
12%
Lung
12%
Heart
10%
Gene Interaction Network
Click a node to explore
NECAP1RINLCLTCCLTCL1AP2B1ITSN2UBE2J2
PROTEIN STRUCTURE
Preparing viewer…
PDB6RH5 Β· NMR
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.59Moderately Constrained
pLIβ“˜
0.68Intermediate
Observed/Expected LoF0.37 [0.24–0.59]
RankingsWhere NECAP1 stands among ~20K protein-coding genes
  • #10,213of 20,598
    Most Researched40
  • #3,597of 5,498
    Most Pathogenic Variants5
  • #4,044of 17,882
    Most Constrained (LOEUF)0.59 Β· top quartile
Genes detectedNECAP1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Early infantile epileptic encephalopathy related to NECAP1: Clinical delineation of the disease and review.
PMID: 35638367
Eur J Neurol Β· 2022
1.00
2
Association of Maternal DNA Methylation and Offspring Birthweight.
PMID: 32754889
Reprod Sci Β· 2021
0.90
3
Whole Genome Sequencing of Giant Schnauzer Dogs with Progressive Retinal Atrophy Establishes
PMID: 31117272
Genes (Basel) Β· 2019
0.80
4
Importance of targeted next-generation sequencing in pediatric patients with developmental epileptic encephalopathy.
PMID: 37820178
Rev Assoc Med Bras (1992) Β· 2023
0.70
5
A novel homozygous truncating variant of NECAP1 in early infantile epileptic encephalopathy: the second case report of EIEE21.
PMID: 30626896
J Hum Genet Β· 2019
0.60