TMEM35A (Transmembrane Protein 35A)
A small integral membrane protein with potential roles in neuronal development and cancer
Gene Information Card
| Symbol | TMEM35A |
|---|---|
| Full Name | Transmembrane Protein 35A |
| Gene Type | Protein coding |
| Chromosomal Location | Xq28 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000101981 |
| UniProt ID | Q9BQ75 |
| OMIM ID | 300802 |
| HGNC ID | 17757 |
| Aliases | NACHO, TMEM35 |
Description
TMEM35A (Transmembrane Protein 35A), also known as NACHO, is a small integral membrane protein that functions as a chaperone for nicotinic acetylcholine receptors (nAChRs). It is involved in the assembly and trafficking of nAChRs to the cell surface, particularly in neurons. The gene is located on the X chromosome and is expressed in various tissues, with notable levels in the brain and certain cancers. Alterations in TMEM35A expression have been linked to neurological disorders and tumorigenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression may affect nAChR signaling, influencing cell proliferation and survival | Expression data from COSMIC and literature |
| Neurological disorders (e.g., intellectual disability) | Mutations or dysregulation of NACHO impair nAChR function, affecting synaptic transmission | Case reports and functional studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lung | 6.1 | Low |
| Breast | 4.7 | Low |
| Colon | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression |
| HEK293 (embryonic kidney) | 2.1 | Low expression |
| A549 (lung carcinoma) | 5.8 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Potential loss of start codon, likely loss of function |
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Unknown effect, rare variant |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt the start codon or introduce premature stop codons are predicted to cause loss of function, impairing nAChR chaperone activity.
Gain of Function (GOF)
No gain-of-function mutations have been reported for TMEM35A.
Dominant Negative (DN)
No dominant-negative mutations have been described.
View complete mutation data：
Gene Ontology (GO)
| • protein folding chaperone | • nicotinic acetylcholine receptor assembly |
| • integral component of membrane | • endoplasmic reticulum membrane |
Pathways
• Nicotinic acetylcholine receptor signaling
• Protein processing in endoplasmic reticulum
Protein Summary
TMEM35A encodes a 138-amino acid transmembrane protein (NACHO) that localizes to the endoplasmic reticulum and Golgi apparatus. It acts as a dedicated chaperone for nicotinic acetylcholine receptors, facilitating their proper folding, assembly, and transport to the plasma membrane. NACHO is essential for functional nAChR expression in neurons and has been implicated in synaptic plasticity and cognitive function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TMEM35A Knockout HEK293 Cell Line | EDJ-KQ15760 | Human | 59353 | Details Get a Quote |
| TMEM35A Knockout HeLa Cell Line | EDJ-KQ56972 | Human | 59353 | Details Get a Quote |
| TMEM35A Knockout A-549 Cell Line | EDJ-KQ65475 | Human | 59353 | Details Get a Quote |
| TMEM35A Knockout HCT 116 Cell Line | EDJ-KQ73914 | Human | 59353 | Details Get a Quote |
