TMEM135
Transmembrane Protein 135: A Peroxisomal and Mitochondrial Regulator
Gene Information Card
| Symbol | TMEM135 |
|---|---|
| Full Name | Transmembrane Protein 135 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q14.2 |
| NCBI Gene ID | 65094 ncbi.nlm.nih.gov/gene/65094 |
| Ensembl ID | ENSG00000149196 |
| UniProt ID | Q8NBP7 |
| OMIM ID | 614726 |
| HGNC ID | 26119 |
| Aliases | FLJ13154, MGC138290 |
Description
TMEM135 encodes a transmembrane protein involved in peroxisomal and mitochondrial dynamics. It is implicated in lipid metabolism, reactive oxygen species regulation, and organelle contact sites. Mutations in TMEM135 are associated with peroxisomal biogenesis disorders and mitochondrial dysfunction.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Peroxisomal biogenesis disorder | Loss of TMEM135 disrupts peroxisome assembly and function, leading to impaired beta-oxidation of very long-chain fatty acids. | OMIM #614726; PMID: 23541340 |
| Mitochondrial encephalopathy | TMEM135 deficiency alters mitochondrial morphology and respiratory chain activity, contributing to neurological symptoms. | PMID: 28453785 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 9.8 | Medium |
| Brain | 7.2 | Low |
| Heart | 6.1 | Low |
| Skeletal Muscle | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocyte cell line |
| HEK293 | 11.0 | Embryonic kidney cells |
| SH-SY5Y | 8.5 | Neuroblastoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, predicted loss of function |
| c.325C>T (p.Arg109Trp) | Missense | <0.01% | Alters transmembrane domain, reduced protein stability |
Mutation functional classification
Loss of Function (LOF)
Mutations leading to truncated or unstable TMEM135 protein impair peroxisome biogenesis and mitochondrial fusion.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • peroxisome (GO:0005777) | • mitochondrion (GO:0005739) |
| • lipid metabolic process (GO:0006629) | • mitochondrion organization (GO:0007005) |
Pathways
• Peroxisomal protein import
• Mitochondrial fusion
Protein Summary
TMEM135 is a 7-transmembrane domain protein localized to peroxisomes and mitochondria. It facilitates organelle contact and lipid transfer. The protein is essential for peroxisome biogenesis and mitochondrial network maintenance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TMEM135 Knockout HEK293 Cell Line | EDJ-KQ15793 | Human | 65084 | Details Get a Quote |
| TMEM135 Knockout A-549 Cell Line | EDJ-KQ48986 | Human | 65084 | Details Get a Quote |
| TMEM135 Knockout HCT 116 Cell Line | EDJ-KQ48987 | Human | 65084 | Details Get a Quote |
| TMEM135 Knockout HeLa Cell Line | EDJ-KQ48988 | Human | 65084 | Details Get a Quote |
