TRIP11 - thyroid hormone receptor interactor 11 Gene
Also Known as ODCD; ACG1A; CEV14; ODCD1; GMAP210; TRIP-11; TRIP230; GMAP-210
生物種: Homo sapiens
About TRIP11
This gene has 5 transcripts (splice variants), 214 orthologues and is associated with 86 phenotypes. Ubiquitous expression in thyroid (RPKM 9.3), kidney (RPKM 6.5) and 25 other tissues.
Summary
This gene was identified based on the interaction of its protein product with Thyroid Hormone Receptor beta. This protein is associated with the Golgi apparatus. The N-terminal region of the protein binds Golgi membranes and the C-terminal region binds the minus ends of microtubules; thus, the protein is thought to play a role in assembly and maintenance of the Golgi ribbon structure around the centrosome. Mutations in this gene cause achondrogenesis type IA.[provided by RefSeq, Mar 2010]
TRIP11 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001321851.1 | NP_001308780.1 | thyroid receptor-interacting protein 11 isoform 2 |
| NM_004239.4 | NP_004230.2 | thyroid receptor-interacting protein 11 isoform 1 |
| Molecular Function GO Annotation | Evidence | 参考文献 | 由来 |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
17438371 | GOA |
| Biological Process GO Annotation | Evidence | 参考文献 | 由来 |
|---|---|---|---|
| involved in Golgi ribbon formation |
IMP
IMP: Inferred from mutant phenotype
|
25473115 | GOA |
| involved in cartilage development |
IMP
IMP: Inferred from mutant phenotype
|
30728324 | GOA |
| involved in vesicle tethering to Golgi |
IMP
IMP: Inferred from mutant phenotype
|
25473115 | GOA |
| Cellular Component GO Annotation | Evidence | 参考文献 | 由来 |
|---|---|---|---|
| located in endoplasmic reticulum-Golgi intermediate compartment |
IDA
IDA: Inferred from direct assay
|
25473115 | GOA |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
thyroid receptor-interacting protein 11 |
|
関連疾患
| Diseases | Alias | |
|---|---|---|
| Odontochondrodysplasia 1 |
|
|
| Achondrogenesis, Type Ia |
|
|
| Connective Tissue Disease |
|
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| Achondrogenesis |
|
|
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
|
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
|
| Schneckenbecken Dysplasia |
|
|
| Dentinogenesis Imperfecta |
|
|
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
|
| Greenberg Dysplasia |
|
|
| Cellular Congenital Mesoblastic Nephroma |
|
|
| Achondrogenesis, Type Ib |
|
|
| Spondylocarpotarsal Synostosis Syndrome |
|
|
| Geroderma Osteodysplasticum |
|
|
| Boomerang Dysplasia |
|
|
| Fibrochondrogenesis |
|
|
| Hypochondroplasia |
|
|
| Brachydactyly |
|
|
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
|
| Seckel Syndrome 1 |
|
|
| Pelger-Huet Anomaly |
|
|
| Dyggve-Melchior-Clausen Disease |
|
|
| Larsen Syndrome |
|
|
| Spondyloepiphyseal Dysplasia Congenita |
|
|
| Autoimmune Lymphoproliferative Syndrome |
|
|
| Osteochondrodysplasia |
|
|
| Scoliosis |
|
Orthologs Information
| 生物種 | Symbol | 由来 | ID |
|---|---|---|---|
| Macaca mulatta | TRIP11 | VGNC | VGNC:78647 |
| Felis catus | TRIP11 | VGNC | VGNC:66559 |
| Rattus norvegicus | TRIP11 | RGD | RGD:1586166 |
| Bos taurus | TRIP11 | VGNC | VGNC:106999 |
| Canis familiaris | TRIP11 | VGNC | VGNC:51692 |
| Mus musculus | TRIP11 | MGD | MGI:1924393 |
| Others | TRIP11 | NCBI |