TMCC1: Transmembrane and Coiled-Coil Domain Family 1
A gene encoding a protein involved in endoplasmic reticulum organization and calcium homeostasis, with implications in cancer and neurological disorders.
Gene Information Card
| Symbol | TMCC1 |
|---|---|
| Full Name | Transmembrane and Coiled-Coil Domain Family 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q22.1 |
| NCBI Gene ID | 23023 ncbi.nlm.nih.gov/gene/23023 |
| Ensembl ID | ENSG00000163635 |
| UniProt ID | O94876 |
| OMIM ID | 616864 |
| HGNC ID | 29187 |
| Aliases | FLJ10858, KIAA0152, TMCC1a, TMCC1b |
Description
TMCC1 encodes a transmembrane protein with coiled-coil domains that localizes to the endoplasmic reticulum (ER). It is involved in ER organization, calcium homeostasis, and membrane trafficking. The gene is expressed in multiple tissues and has been implicated in cancer progression and neurological conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression and mutations may affect ER calcium signaling and cell proliferation. | COSMIC; NCBI Gene |
| Intellectual disability | Rare variants reported in patients with neurodevelopmental phenotypes. | ClinVar; OMIM |
| Epilepsy | Potential role in neuronal calcium dysregulation. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 10.2 | Medium |
| Testis | 15.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.2 | Cervical cancer cell line |
| HEK293 | 11.5 | Embryonic kidney cells |
| SH-SY5Y | 9.8 | Neuroblastoma cell line |
| MCF7 | 7.3 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | Rare | Unknown functional impact; reported in ClinVar |
| c.1420G>A (p.Glu474Lys) | Missense | Rare | Associated with neurodevelopmental disorder |
| c.1876_1877insA (p.Thr626AsnfsTer5) | Frameshift | Rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants likely lead to truncated protein and loss of normal ER function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Not established for TMCC1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Endoplasmic reticulum organization
• Calcium signaling pathway (inferred)
Protein Summary
The TMCC1 protein is a 661-amino acid transmembrane protein with coiled-coil domains. It resides in the ER membrane and participates in maintaining ER structure and calcium homeostasis. It may interact with other ER-resident proteins to regulate membrane dynamics and signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TMCC1 Knockout HEK293 Cell Line | EDJ-KQ7781 | Human | 23023 | Details Get a Quote |
| TMCC1 Knockout A-549 Cell Line | EDJ-KQ33263 | Human | 23023 | Details Get a Quote |
| TMCC1 Knockout HCT 116 Cell Line | EDJ-KQ33264 | Human | 23023 | Details Get a Quote |
| TMCC1 Knockout HeLa Cell Line | EDJ-KQ33265 | Human | 23023 | Details Get a Quote |
