InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TRPS1

Summary

InnateDB Protein

IDBP-238987.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

TRPS1

Protein Name

trichorhinophalangeal syndrome I

Synonyms

GC79; LGCR;

Species

Homo sapiens

Ensembl Protein

ENSP00000379065

InnateDB Gene

IDBG-33299 (TRPS1)

Protein Structure

UniProt Annotation

Function

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. {ECO:0000269PubMed:12885770, ECO:0000269PubMed:17391059}.

Subcellular Localization

Nucleus {ECO:0000269PubMed:12885770}.

Disease Associations

Tricho-rhino-phalangeal syndrome 1 (TRPS1) [MIM:190350]: 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. {ECO:0000269PubMed:14560312}. Note=The disease is caused by mutations affecting the gene represented in this entry.Tricho-rhino-phalangeal syndrome 2 (TRPS2) [MIM:150230]: A syndrome that combines the clinical features of tricho-rhino- phalangeal 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=The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration resulting in the loss of functional copies of TRPS1 and EXT1 has been found in TRPS2 patients.Tricho-rhino-phalangeal syndrome 3 (TRPS3) [MIM:190351]: 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. {ECO:0000269PubMed:11112658, ECO:0000269PubMed:11807863}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitously 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.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
They are also associated with 6 interaction(s) predicted by orthology.

Experimentally validated
Total	10 [view]
Protein-Protein	9 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	6 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0005515	protein binding
GO:0008270	zinc ion binding
GO:0043565	sequence-specific DNA binding
GO:0046872	metal ion binding

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0001501	skeletal system development
GO:0002062	chondrocyte differentiation
GO:0006355	regulation of transcription, DNA-templated
GO:0006366	transcription from RNA polymerase II promoter
GO:0006607	NLS-bearing protein import into nucleus
GO:0007178	transmembrane receptor protein serine/threonine kinase signaling pathway
GO:0031063	regulation of histone deacetylation
GO:0032330	regulation of chondrocyte differentiation
GO:0045892	negative regulation of transcription, DNA-templated
GO:1902043	positive regulation of extrinsic apoptotic signaling pathway via death domain receptors