FunctionTranscriptional repressor. Binds specifically to GATA sequences and represses expression of GATA-regulated genes at selected sites and stages in vertebrate development. Regulates chondrocyte proliferation and differentiation. Executes multiple functions in proliferating chondrocytes, expanding the region of distal chondrocytes, activating proliferation in columnar cells and supporting the differentiation of columnar into hypertrophic chondrocytes.
Tissue specificityUbiquitously expressed in the adult. Found in fetal brain, lung, kidney, liver, spleen and thymus. More highly expressed in androgen-dependent than in androgen-independent prostate cancer cells.
Involvement in diseaseDefects in TRPS1 are the cause of tricho-rhino-phalangeal syndrome type 1 (TRPS1) [MIM:190350]. TRPS1 is an autosomal dominant disorder characterized by craniofacial and skeletal abnormalities. It is allelic with tricho-rhino-phalangeal type 3. Typical features include sparse scalp hair, a bulbous tip of the nose, protruding ears, a long flat philtrum and a thin upper vermilion border. Skeletal defects include cone-shaped epiphyses at the phalanges, hip malformations and short stature. Defects in TRPS1 are a cause of tricho-rhino-phalangeal syndrome type 2 (TRPS2) [MIM:150230]. A syndrome that combines the clinical features of trichorhinophalangeal syndrome type 1 and multiple exostoses type 1. Affected individuals manifest multiple dysmorphic facial features including large, laterally protruding ears, a bulbous nose, an elongated upper lip, as well as sparse scalp hair, winged scapulae, multiple cartilaginous exostoses, redundant skin, and mental retardation. Note=A chromosomal aberration resulting in the loss of functional copies of TRPS1 and EXT1 has been found in TRPS2 patients. Defects in TRPS1 are the cause of tricho-rhino-phalangeal syndrome type 3 (TRPS3) [MIM:190351]. TRPS3 is an autosomal dominant disorder characterized by craniofacial and skeletal abnormalities. It is allelic with tricho-rhino-phalangeal type 1. In TRPS3 a more severe brachydactyly and growth retardation are observed.
Post-translational modificationsSumoylated. Sumoylation in the repressor domain inhibits the transcription repression activity. Sumoylation on Lys-1201 is the major site. Appears to be sumoylated on multiple sites.
ab125197 at 1 µg/ml staining TRPS1 by WB, following immunoprecipitation of whole cell lysate from HeLa cells.
Lane 1; IP using ab125197 at 6 µg/mg lysate.
Lane 2; IP using control IgG.
1 mg of lysate was used for IP and 20% of IP was loaded. Detection utilised Chemiluminescence with a 30 second exposure.
Western blot - Anti-TRPS1 antibody (ab125197)This image is courtesy of an anonymous Abreview
All lanes : Anti-TRPS1 antibody (ab125197) at 1/500 dilution
Lane 1 : Ha-Ras-transformed EpH4 cells - nuclear extracts Lane 2 : EpF-2 and EpF-1 (EpH4 subclones expressing high amounts of Zeb1 and Zeb2 mRNA) - nuclear extracts Lane 3 : EpF-2 and EpF-1 (EpH4 subclones expressing high amounts of Zeb1 and Zeb2 mRNA) - nuclear extracts Lane 4 : EpH4 (parental) - nuclear extracts Lane 5 : EpF-2 - nuclear extracts Lane 6 : EpF-Z1.1 and EpF-Z1.2 (EpF-1 clones transfected with siRNA to knockdown Zeb1) - nuclear extracts Lane 7 : EpF-Z1.1 and EpF-Z1.2 (EpF-1 clones transfected with siRNA to knockdown Zeb1) - nuclear extracts Lane 8 : EpF-Z2.1 and EpF-Z2.2 (EpF-1 clones transfected with siRNA to knockdown Zeb2) - nuclear extracts Lane 9 : EpF-Z2.1 and EpF-Z2.2 (EpF-1 clones transfected with siRNA to knockdown Zeb2) - nuclear extracts
Lysates/proteins at 25 µg per lane.
Secondary HRP-conjugated donkey anti-rabbit IgG polyclonal at 1/10000 dilution