Tricho-rhino-phalangeal syndrome Type 1

Trichorhinophalangeal syndrome I
Identifiers
Symbols	TRPS1 ; GC79; LGCR
External IDs	OMIM: 604386 HomoloGene: 8556 GeneCards: TRPS1 Gene
Gene ontology Molecular function • transcription factor activity, sequence-specific DNA binding • protein binding • zinc ion binding • sequence-specific DNA binding Cellular component • nucleus • nucleoplasm Biological process • negative regulation of transcription from RNA polymerase II promoter • skeletal system development • chondrocyte differentiation • transcription from RNA polymerase II promoter • NLS-bearing protein import into nucleus • transmembrane receptor protein serine/threonine kinase signaling pathway • regulation of histone deacetylation • regulation of chondrocyte differentiation • positive regulation of extrinsic apoptotic signaling pathway via death domain receptors Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	7227	83925
Ensembl	ENSG00000104447	ENSMUSG00000038679
UniProt	Q9UHF7	Q925H1
RefSeq (mRNA)	NM_001282902	NM_032000
RefSeq (protein)	NP_001269831	NP_114389
Location (UCSC)	Chr 8: 115.41 – 115.81 Mb	Chr 15: 50.65 – 50.89 Mb
PubMed search	[1]	[2]

Zinc finger transcription factor Trps1 is a protein that in humans is encoded by the TRPS1 gene.

This gene encodes a GATA-like 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 (also known as the Langer-Giedion syndrome).

External links

• TRPS1 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.