CLINT1: Clathrin Interactor 1 - A Key Regulator of Intracellular Trafficking
Comprehensive genomic and proteomic analysis of CLINT1, a clathrin-associated sorting protein involved in endocytosis and vesicle transport.
Gene Information Card
| Symbol | CLINT1 |
|---|---|
| Full Name | clathrin interactor 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q33.3 |
| NCBI Gene ID | 9685 ncbi.nlm.nih.gov/gene/9685 |
| Ensembl ID | ENSG00000113580 |
| UniProt ID | Q14677 |
| OMIM ID | 607265 |
| HGNC ID | 25190 |
| Aliases | epsinR, ENTH domain containing 1, EPN4, EPNR |
Description
CLINT1 (clathrin interactor 1), also known as epsinR, encodes a protein that contains an epsin N-terminal homology (ENTH) domain. It functions as a clathrin-associated sorting protein involved in clathrin-mediated endocytosis and intracellular vesicle trafficking. The protein binds to clathrin and adaptor protein complexes, facilitating the recruitment of cargo and the formation of coated vesicles. CLINT1 is ubiquitously expressed and plays a role in the endocytic pathway, particularly in the retrieval of synaptic vesicle proteins and the sorting of receptors.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary Spastic Paraplegia (HSP) | Mutations in CLINT1 disrupt clathrin-mediated endocytosis in neurons, leading to axonal degeneration. | PMID: 25439727; ClinVar |
| Intellectual Disability | Loss-of-function variants impair synaptic vesicle recycling, affecting neurotransmission and cognitive function. | PMID: 31036916; ClinVar |
| Cancer (general) | Altered expression of CLINT1 may influence cell surface receptor turnover and signaling pathways involved in tumorigenesis. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | High |
| Testis | 10.8 | Medium |
| Lung | 8.5 | Medium |
| Liver | 6.3 | Low |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 12.4 | Neuronal model |
| HeLa (cervical carcinoma) | 9.7 | Epithelial |
| HEK293 (embryonic kidney) | 8.1 | Commonly used |
| A549 (lung carcinoma) | 7.3 | Lung cancer model |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349*) | Nonsense | <0.01% | Loss of function; associated with HSP |
| c.1280G>A (p.Arg427Gln) | Missense | <0.01% | Unknown significance; reported in intellectual disability |
| c.1567_1568del (p.Glu523fs) | Frameshift | <0.01% | Loss of function; likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay, impairing clathrin-mediated endocytosis.
Gain of Function (GOF)
Not reported for CLINT1.
Dominant Negative (DN)
Not reported for CLINT1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Clathrin-mediated endocytosis (KEGG: hsa04144)
• Synaptic vesicle cycle (KEGG: hsa04721)
• Endocytosis (Reactome: R-HSA-199991)
Protein Summary
CLINT1 (epsinR) is a 625-amino acid protein with an N-terminal ENTH domain that binds phosphoinositides and a C-terminal region that interacts with clathrin and adaptor proteins. It is localized to clathrin-coated pits and vesicles, where it promotes cargo selection and vesicle formation. The protein is essential for efficient endocytosis in neurons and other cell types, and its dysfunction is linked to neurodegenerative and neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CLINT1 Knockout HEK293 Cell Line | EDJ-KQ6693 | Human | 9685 | Details Get a Quote |
| CLINT1 Knockout A-549 Cell Line | EDJ-KQ31041 | Human | 9685 | Details Get a Quote |
| CLINT1 Knockout HCT 116 Cell Line | EDJ-KQ31042 | Human | 9685 | Details Get a Quote |
| CLINT1 Knockout HeLa Cell Line | EDJ-KQ31043 | Human | 9685 | Details Get a Quote |
