trichorhinophalangeal syndrome I
Symbol
TRPS1
(may also be known as: None)
Organism
Human
Description
This gene encodes a transcription factor that represses GATA-regulated genes and binds to a dynein light chain protein. Binding of the encoded protein to the dynein light chain protein affects binding to GATA consensus sequences and suppresses its transcriptional activity. Defects in this gene are a cause of tricho-rhino-phalangeal syndrome (TRPS) types I-III. [provided by RefSeq, Jul 2008]
Orthologs
| Symbol | Species | |
|---|---|---|
| Trps1 | Mus musculus | |
| Trps1 | Rattus norvegicus |
Links to external resources
Changes associated with this gene
GO Terms
| GO ID | GO Term | GO Category | |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription from RNA polymerase II promoter | biological_process | |
| GO:0001501 | skeletal system development | biological_process | |
| GO:0006355 | regulation of transcription, DNA-dependent | biological_process | |
| GO:0006366 | transcription from RNA polymerase II promoter | biological_process | |
| GO:0006607 | NLS-bearing substrate import into nucleus | biological_process | |
| GO:0032330 | regulation of chondrocyte differentiation | biological_process | |
| GO:0045892 | negative regulation of transcription, DNA-dependent | biological_process | |
| GO:0005622 | intracellular | cellular_component | |
| GO:0005634 | nucleus | cellular_component | |
| GO:0003700 | sequence-specific DNA binding transcription factor activity | molecular_function | |
| GO:0005515 | protein binding | molecular_function | |
| GO:0008270 | zinc ion binding | molecular_function | |
| GO:0043565 | sequence-specific DNA binding | molecular_function | |
| GO:0046872 | metal ion binding | molecular_function | |