TRIP11: Thyroid Hormone Receptor Interactor 11
Key regulator of Golgi apparatus structure and function; associated with skeletal dysplasias and cancer
Gene Information Card
| Symbol | TRIP11 |
|---|---|
| Full Name | Thyroid Hormone Receptor Interactor 11 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q31.3 |
| NCBI Gene ID | 9321 ncbi.nlm.nih.gov/gene/9321 |
| Ensembl ID | ENSG00000100815 |
| UniProt ID | Q15643 |
| OMIM ID | 604507 |
| HGNC ID | 12305 |
| Aliases | GMAP-210, CEV14, TRIP-11 |
Description
TRIP11 encodes the Golgi microtubule-associated protein 210 (GMAP-210), a centrosomal and Golgi protein essential for maintaining Golgi ribbon structure and microtubule organization. It interacts with thyroid hormone receptor beta and plays roles in vesicle transport, ciliogenesis, and cell cycle progression. Loss-of-function mutations cause achondrogenesis type 1A (ACG1A), a severe skeletal dysplasia. Somatic alterations are reported in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Achondrogenesis type 1A (ACG1A) | Loss-of-function mutations in TRIP11 disrupt Golgi structure and microtubule anchoring, impairing chondrocyte differentiation and matrix production. | OMIM #200600; PMID: 20089971 |
| Skeletal dysplasia (non-lethal) | Hypomorphic TRIP11 variants lead to milder skeletal phenotypes with short stature and vertebral anomalies. | ClinVar; PMID: 25792390 |
| Breast cancer | TRIP11 overexpression correlates with poor prognosis; may promote Golgi fragmentation and cell migration. | COSMIC; PMID: 29395075 |
| Glioblastoma | TRIP11 amplification observed in a subset of tumors; potential role in invasion. | COSMIC; PMID: 26683319 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.6 | High |
| Thyroid | 18.2 | Medium |
| Brain (cerebellum) | 15.4 | Medium |
| Heart | 12.1 | Medium |
| Liver | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 22.5 | Cervical adenocarcinoma; high expression |
| HEK293 | 19.8 | Embryonic kidney; moderate expression |
| MCF7 | 17.3 | Breast cancer; moderate expression |
| A549 | 14.1 | Lung carcinoma; moderate expression |
| K562 | 8.7 | Leukemia; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function; associated with ACG1A |
| c.567_568del (p.Glu190fs) | Frameshift | <0.01% | Loss of function; associated with ACG1A |
| c.2345A>G (p.Asn782Ser) | Missense | 0.02% | Uncertain significance; reported in cancer |
| c.3456+1G>A | Splice donor | <0.01% | Splice disruption; likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and splice-site mutations in TRIP11 cause loss of GMAP-210 function, leading to Golgi fragmentation and defective ciliogenesis, resulting in achondrogenesis type 1A.
Gain of Function (GOF)
Not established; overexpression in some cancers may confer gain-of-function effects on cell migration.
Dominant Negative (DN)
Not reported; all known pathogenic mutations are recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Golgi-to-ER retrograde transport
• Cilium assembly
• Microtubule organization
• Vesicle-mediated transport
Protein Summary
GMAP-210 (encoded by TRIP11) is a 210 kDa Golgi-associated protein that tethers microtubules to the Golgi apparatus. It contains a N-terminal centrosomal targeting domain and a C-terminal Golgi-binding domain. The protein is critical for Golgi ribbon integrity, ciliary assembly, and directional vesicle transport. Loss of GMAP-210 leads to Golgi dispersal and impaired chondrogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TRIP11 Knockout HEK293 Cell Line | EDJ-KQ5883 | Human | 9321 | Details Get a Quote |
| TRIP11 Knockout A-549 Cell Line | EDJ-KQ30724 | Human | 9321 | Details Get a Quote |
| TRIP11 Knockout HCT 116 Cell Line | EDJ-KQ30726 | Human | 9321 | Details Get a Quote |
| TRIP11 Knockout HeLa Cell Line | EDJ-KQ30727 | Human | 9321 | Details Get a Quote |
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