TRPS1 cdna clone
TRPS1 cDNA Clone
NCBI and Uniprot Product Information
NCBI 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]
Uniprot Description
TRPS1: Transcriptional 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. Defects in TRPS1 are the cause of tricho-rhino-phalangeal syndrome type 1 (TRPS1). 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). 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. 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). 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. 3 isoforms of the human protein are produced by alternative splicing.
Protein type: C2H2-type zinc finger protein; Transcription factor
Chromosomal Location of Human Ortholog: 8q24.12
Cellular Component: nuclear chromatin; nucleoplasm; nucleus; transcription factor complex
Molecular Function: chromatin binding; protein binding; transcription factor activity
Biological Process: anatomical structure formation; cell development; cell fate commitment; gut development; heart development; negative regulation of transcription from RNA polymerase II promoter; NLS-bearing substrate import into nucleus; organ morphogenesis; regulation of chondrocyte differentiation; skeletal development; tissue development; transcription from RNA polymerase II promoter
Disease: Trichorhinophalangeal Syndrome, Type I; Trichorhinophalangeal Syndrome, Type Iii
Research Articles on TRPS1
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Product Notes
The TRPS1 trps1 (Catalog #AAA1271512) is a cDNA Clone and is intended for research purposes only. The product is available for immediate purchase. The amino acid sequence is listed below: ATGGTCCGGA AAAAGAACCC CCCTCTGAGA AACGTTGCAA GTGAAGGCGA GGGCCAGATC CTGGAGCCTA TAGGTACAGA AAGCAAGGTA TCTGGAAAGA ACAAAGAATT TTCTGCAGAT CAGATGTCAG AAAATACGGA TCAGAGTGAT GCTGCAGAAC TAAATCATAA GGAGGAACAT AGCTTGCATG TTCAAGATCC ATCTTCTAGC AGTAAGAAGG ACTTGAAAAG CGCAGTTCTG AGTGAGAAGG CTGGCTTCAA TTATGAAAGC CCCAGTAAGG GAGGAAACTT TCCCTCCTTT CCGCATGATG AGGTGACAGA CAGAAATATG TTGGCTTTCT CATCTCCAGC TGCTGGGGGA GTCTGTGAGC CCTTGAAGTC TCCGCAAAGA GCAGAGGCAG ATGACCCTCA AGATATGGCC TGCACCCCCT CAGGGGACTC ACTGGAGACA AAGGAAGATC AGAAGATGTC ACCAAAGGCT ACAGAGGAAA CAGGGCAAGC ACAGAGTGGT CAAGCCAATT GTCAAGGTTT GAGCCCAGTT TCAGTGGCCT CAAAAAACCC ACAAGTGCCT TCAGATGGGG GTGTAAGACT GAATAAATCC AAAACTGACT TACTGGTGAA TGACAACCCA GACCCGGCAC CTCTGTCTCC AGAGCTTCAG GACTTTAAAT GCAATATCTG TGGATATGGT TACTACGGCA ACGACCCCAC AGATCTGATT AAGCACTTCC GAAAGTATCA CTTAGGACTG CATAACCGCA CCAGGCAAGA TGCTGAGCTG GACAGCAAAA TCTTGGCCCT TCATAACATG GTGCAGTTCA GCCATTCCAA AGACTTCCAG AAGGTCAACC GTTCTGTGTT TTCTGGTGTG CTGCAGGACA TCAATTCTTC AAGGCCTGTT TTACTAAATG GGACCTACGA TGTGCAGGTG ACTTCAGGTG GAACATTCAT TGGCATTGGA CGGAAAACAC CAGATTGCCA AGGGAACACC AAGTATTTCC GCTGTAAATT CTGCAATTTC ACTTATATGG GCAATTCATC CACCGAATTA GAACAACATT TTCTTCAGAC TCACCCAAAC AAAATAAAAG CTTCTCTCCC CTCCTCTGAG GTTGCAAAAC CTTCAGAGAA AAACTCTAAC AAGTCCATCC CTGCACTTCA ATCCAGTGAT TCTGGAGACT TGGGAAAATG GCAGGACAAG ATAACAGTCA AAGCAGGAGA TGACACTCCT GTTGGGTACT CAGTGCCCAT AAAGCCCCTC GATTCCTCTA GACAAAATGG TACAGAGGCC ACCAGTTACT ACTGGTGTAA ATTTTGTAGT TTCAGCTGTG AGTCATCTAG CTCACTTAAA CTGCTAGAAC ATTATGGCAA GCAGCACGGA GCAGTGCAGT CAGGCGGCCT TAATCCAGAG TTAAATGATA AGCTTTCCAG GGGCTCTGTC ATTAATCAGA ATGATCTAGC CAAAAGTTCA GAAGGAGAGA CAATGACCAA GACAGACAAG AGCTCGAGTG GGGCTAAAAA GAAGGACTTC TCCAGCAAGG GAGCCGAGGA TAATATGGTA ACGAGCTATA ATTGTCAGTT CTGTGACTTC CGATATTCCA AAAGCCATGG CCCTGATGTA ATTGTAGTGG GGCCACTTCT CCGTCATTAT CAACAGCTCC ATAACATTCA CAAGTGTACC ATTAAACACT GTCCATTCTG TCCCAGAGGA CTTTGCAGCC CAGAAAAGCA CCTTGGAGAA ATTACTTATC CGTTTGCTTG TAGAAAAAGT AATTGTTCCC ACTGTGCACT CTTGCTTCTG CACTTGTCTC CTGGGGCGGC TGGAAGCTCG CGAGTCAAAC ATCAGTGCCA TCAGTGTTCA TTCACCACCC CTGACGTAGA TGTACTCCTC TTTCACTATG AAAGTGTGCA TGAGTCCCAA GCATCGGATG TCAAACAAGA AGCAAATCAC CTGCAAGGAT CGGATGGGCA GCAGTCTGTC AAGGAAAGCA AAGAACACTC ATGTACCAAA TGTGATTTTA TTACCCAAGT GGAAGAAGAG ATTTCCCGAC ACTACAGGAG AGCACACAGC TGCTACAAAT GCCGTCAGTG CAGTTTTACA GCTGCCGATA CTCAGTCACT ACTGGAGCAC TTCAACACTG TTCACTGCCA GGAACAGGAC ATCACTACAG CCAACGGCGA AGAGGACGGT CATGCCATAT CCACCATCAA AGAGGAGCCC AAAATTGACT TCAGGGTCTA CAATCTGCTA ACTCCAGACT CTAAAATGGG AGAGCCAGTT TCTGAGAGTG TGGTGAAGAG AGAGAAGCTG GAAGAGAAGG ACGGGCTCAA AGAGAAAGTT TGGACCGAGA GTTCCAGTGA TGACCTTCGC AATGTGACTT GGAGAGGGGC AGACATCCTG CGGGGGAGTC CGTCATACAC CCAAGCAAGC CTGGGGCTGC TGACGCCTGT GTCTGGCACC CAAGAGCAGA CAAAGACTCT AAGGGATAGT CCCAATGTGG AGGCCGCCCA TCTGGCGCGA CCTATTTATG GCTTGGCTGT GGAAACCAAG GGATTCCTGT AG. It is sometimes possible for the material contained within the vial of "TRPS1, cDNA Clone" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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