NP_001269831.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
141,981 Da
NCBI Official Full Name
zinc finger transcription factor Trps1 isoform 2
NCBI Official Synonym Full Names
trichorhinophalangeal syndrome I
NCBI Official Synonym Symbols
NCBI Protein Information
zinc finger transcription factor Trps1
UniProt Protein Name
Zinc finger transcription factor Trps1
UniProt Synonym Protein Names
Tricho-rhino-phalangeal syndrome type I protein; Zinc finger protein GC79
UniProt Entry Name
TRPS1_HUMAN
NCBI Summary for TRPS1
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 Comments for TRPS1
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: nucleoplasm; nucleus
Molecular Function: protein binding; zinc ion binding; sequence-specific DNA binding; transcription factor activity
Biological Process: transcription from RNA polymerase II promoter; regulation of histone deacetylation; transmembrane receptor protein serine/threonine kinase signaling pathway; chondrocyte differentiation; NLS-bearing substrate import into nucleus; negative regulation of transcription from RNA polymerase II promoter; regulation of chondrocyte differentiation; skeletal development
Disease: Trichorhinophalangeal Syndrome, Type I; Trichorhinophalangeal Syndrome, Type Iii
Research Articles on TRPS1
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Products associated with TRPS1 blocking peptide
Diseases associated with TRPS1 blocking peptide
Disease Name |
Pubmed Publications |
Bone Diseases, Developmental Antibodies |
>55 publications with TRPS1 and Bone Diseases, Developmental |
TRICHORHINOPHALANGEAL SYNDROME, TYPE I Antibodies |
>47 publications with TRPS1 and TRICHORHINOPHALANGEAL SYNDROME, TYPE I |
Langer-Giedion Syndrome Antibodies |
>47 publications with TRPS1 and Langer-Giedion Syndrome |
Craniofacial Abnormalities Antibodies |
>32 publications with TRPS1 and Craniofacial Abnormalities |
Abnormalities, Multiple Antibodies |
>22 publications with TRPS1 and Abnormalities, Multiple |
Breast Neoplasms Antibodies |
>18 publications with TRPS1 and Breast Neoplasms |
Carcinoma Antibodies |
>9 publications with TRPS1 and Carcinoma |
Trichorhinophalangeal Syndrome, Type III Antibodies |
>8 publications with TRPS1 and Trichorhinophalangeal Syndrome, Type III |
Prostatic Diseases Antibodies |
>7 publications with TRPS1 and Prostatic Diseases |
Genital Diseases, Male Antibodies |
>7 publications with TRPS1 and Genital Diseases, Male |
Organs/Tissues associated with TRPS1 blocking peptide
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