Tricho-rhino-phalangeal syndrome Type 1

TRPS1
Identifiers
Aliases	TRPS1, GC79, LGCR, transcriptional repressor GATA binding 1
External IDs	MGI: 1927616 HomoloGene: 8556 GeneCards: TRPS1
Genetically Related Diseases
major depressive disorder[1]
Gene ontology Molecular function • DNA binding • sequence-specific DNA binding • RNA polymerase II regulatory region sequence-specific DNA binding • RNA polymerase II transcription factor binding • transcription factor activity, sequence-specific DNA binding • transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding • zinc ion binding • chromatin binding • metal ion binding • protein binding Cellular component • transcription factor complex • nucleoplasm • nucleus • nuclear chromatin Biological process • skeletal system development • cell fate commitment • regulation of transcription, DNA-templated • cell development • anatomical structure formation involved in morphogenesis • negative regulation of transcription from RNA polymerase II promoter • transcription from RNA polymerase II promoter • transcription, DNA-templated • heart development • tissue development • animal organ morphogenesis • digestive tract development • NLS-bearing protein import into nucleus • regulation of chondrocyte differentiation • positive regulation of transcription from RNA polymerase II promoter Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	7227	83925
Ensembl	ENSG00000104447	ENSMUSG00000038679
UniProt	Q9UHF7	Q925H1
RefSeq (mRNA)	NM_001282902 NM_001282903 NM_014112	NM_032000 NM_001310481 NM_001310485
RefSeq (protein)	NP_001269831.1 NP_001269832.1 NP_054831.2	n/a
Location (UCSC)	Chr 8: 115.41 – 115.81 Mb	Chr 15: 50.65 – 50.89 Mb
PubMed search	[2]	[3]
Wikidata

View/Edit Human

View/Edit Mouse

Zinc finger transcription factor Trps1 is a protein that in humans is encoded by the TRPS1 gene.^[4][5][6]

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).^[7]

References

1. "Diseases that are genetically associated with TRPS1 view/edit references on wikidata".
2. "Human PubMed Reference:".
3. "Mouse PubMed Reference:".
4. Hou J, Parrish J, Lüdecke HJ, Sapru M, Wang Y, Chen W, Hill A, Siegel-Bartelt J, Northrup H, Elder FF (Sep 1995). "A 4-megabase YAC contig that spans the Langer-Giedion syndrome region on human chromosome 8q24.1: use in refining the location of the trichorhinophalangeal syndrome and multiple exostoses genes (TRPS1 and EXT1)". Genomics. 29 (1): 87–97. doi:10.1006/geno.1995.1218. PMID 8530105.
5. Momeni P, Glöckner G, Schmidt O, von Holtum D, Albrecht B, Gillessen-Kaesbach G, Hennekam R, Meinecke P, Zabel B, Rosenthal A, Horsthemke B, Lüdecke HJ (Jan 2000). "Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I". Nature Genetics. 24 (1): 71–4. doi:10.1038/71717. PMID 10615131.
6. Lüdecke HJ, Schmidt O, Nardmann J, von Holtum D, Meinecke P, Muenke M, Horsthemke B (Dec 1999). "Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8". Human Genetics. 105 (6): 619–28. doi:10.1007/s004390051154. PMID 10647898.
7. "Entrez Gene: Trichorhinophalangeal syndrome I".

Further reading

• Chang GT, van den Bemd GJ, Jhamai M, Brinkmann AO (Feb 2002). "Structure and function of GC79/TRPS1, a novel androgen-repressible apoptosis gene". Apoptosis. 7 (1): 13–21. doi:10.1023/A:1013504710343. PMID 11773701.

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.