MCTP1
Multiple C2 and Transmembrane Domain Containing 1
Gene Information Card
| Symbol | MCTP1 |
|---|---|
| Full Name | Multiple C2 and Transmembrane Domain Containing 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q15 |
| NCBI Gene ID | 79772 ncbi.nlm.nih.gov/gene/79772 |
| Ensembl ID | ENSG00000164327 |
| UniProt ID | Q6DN14 |
| OMIM ID | 616699 |
| HGNC ID | 26187 |
| Aliases | MCTP1, FLJ22662, bA65N13.1 |
Description
MCTP1 encodes a protein containing multiple C2 domains and transmembrane regions, involved in calcium-dependent membrane trafficking and signaling. The gene is located on chromosome 5q15 and is expressed in various tissues, particularly in the brain and endocrine organs.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered calcium signaling and synaptic function; MCTP1 variants associated with risk | PMID: 25056061 |
| Bipolar disorder | Potential dysregulation of calcium-dependent processes | PMID: 25056061 |
| Autism spectrum disorder | Rare variants implicated in neurodevelopmental pathways | ClinVar: VCV000429496 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Testis | 8.3 | Low |
| Adrenal gland | 7.1 | Low |
| Thyroid | 6.9 | Low |
| Heart | 5.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 10.1 | Neuronal model |
| HEK293 (embryonic kidney) | 8.5 | Common cell line |
| HeLa (cervical carcinoma) | 6.3 | Epithelial |
| K562 (leukemia) | 4.7 | Myeloid |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | 0.001% (gnomAD) | Unknown functional effect; reported in autism |
| c.567_569del (p.Glu189del) | In-frame deletion | <0.001% | Potential loss of C2 domain function |
| c.2101G>A (p.Gly701Arg) | Missense | 0.002% | ClinVar: uncertain significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding | • membrane |
| • integral component of membrane | • calcium-dependent phospholipid binding |
| • synaptic vesicle exocytosis |
Pathways
• Calcium signaling pathway
• Synaptic vesicle cycle
Protein Summary
The MCTP1 protein (UniProt Q6DN14) contains multiple C2 domains that bind calcium and phospholipids, facilitating membrane interactions. It is predicted to play a role in calcium-regulated membrane trafficking, particularly in neurons and endocrine cells. The protein has transmembrane regions anchoring it to cellular membranes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MCTP1 Knockout HEK293 Cell Line | EDJ-KQ2854 | Human | 79772 | Details Get a Quote |
| MCTP1 Knockout A-549 Cell Line | EDJ-KQ23865 | Human | 79772 | Details Get a Quote |
| MCTP1 Knockout HCT 116 Cell Line | EDJ-KQ23866 | Human | 79772 | Details Get a Quote |
| MCTP1 Knockout HeLa Cell Line | EDJ-KQ23867 | Human | 79772 | Details Get a Quote |
| Mctp1 Knockout 4T1 Cell Line | EDJ-KZ346 | Mouse | 78771 | Details Get a Quote |
