SCLT1 (Sodium Channel and Clathrin Linker 1)
Gene encoding a clathrin-associated protein involved in endocytosis and neuronal function
Gene Information Card
| Symbol | SCLT1 |
|---|---|
| Full Name | Sodium Channel and Clathrin Linker 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 4q28.2 |
| NCBI Gene ID | 132320 ncbi.nlm.nih.gov/gene/132320 |
| Ensembl ID | ENSG00000164190 |
| UniProt ID | Q8N6M0 |
| OMIM ID | 611605 |
| HGNC ID | 29325 |
| Aliases | CAP-1A, CAP1A, CLAP1, hCAP-1A, KIAA0625 |
Description
SCLT1 encodes a protein that functions as a linker between voltage-gated sodium channels and clathrin, playing a role in clathrin-mediated endocytosis and intracellular trafficking. The protein is involved in neuronal development and maintenance of the axon initial segment. Mutations in SCLT1 have been associated with neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with or without seizures | Loss-of-function mutations impair clathrin-mediated endocytosis and sodium channel localization, disrupting neuronal excitability | ClinVar: pathogenic variants reported |
| Epileptic encephalopathy | Missense variants affecting protein stability and interaction with clathrin | OMIM: 611605 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Heart | 6.1 | Low |
| Kidney | 5.4 | Low |
| Liver | 3.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression in neuronal model |
| HEK293 (embryonic kidney) | 7.8 | Moderate expression |
| HeLa (cervical carcinoma) | 4.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34*) | Nonsense | Rare | Loss of function; associated with neurodevelopmental disorder |
| c.457G>A (p.Gly153Arg) | Missense | Rare | Impaired clathrin binding; reported in epileptic encephalopathy |
| c.1234_1235del (p.Lys412Glufs*3) | Frameshift | Rare | Loss of function; pathogenic in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to premature stop codons or truncated protein, reducing endocytic function.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported.
Dominant Negative (DN)
Not established; likely haploinsufficiency mechanism.
View complete mutation data：
Gene Ontology (GO)
| • clathrin binding | • protein binding |
| • clathrin-mediated endocytosis | • intracellular protein transport |
| • axon initial segment |
Pathways
• Clathrin-mediated endocytosis (Reactome: R-HSA-8856828)
• Voltage-gated sodium channel trafficking
Protein Summary
The SCLT1 protein (UniProt Q8N6M0) is a 730-amino acid clathrin-associated linker that interacts with the cytoplasmic tail of voltage-gated sodium channels. It localizes to the axon initial segment and endocytic vesicles, facilitating sodium channel internalization and recycling. The protein contains a clathrin-binding domain and is essential for proper neuronal excitability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SCLT1 Knockout HEK293 Cell Line | EDJ-KQ9293 | Human | 132320 | Details Get a Quote |
| SCLT1 Knockout HeLa Cell Line | EDJ-KQ34662 | Human | 132320 | Details Get a Quote |
| SCLT1 Knockout A-549 Cell Line | EDJ-KQ35903 | Human | 132320 | Details Get a Quote |
| SCLT1 Knockout HCT 116 Cell Line | EDJ-KQ35904 | Human | 132320 | Details Get a Quote |
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