Tricho-rhino-phalangeal syndrome Type 1

Zinc finger transcription factor Trps1 is a protein that in humans is encoded by the TRPS1 gene.[5][6][7]

TRPS1
Identifiers
Aliases	TRPS1, GC79, LGCR, transcriptional repressor GATA binding 1
External IDs	OMIM: 604386 MGI: 1927616 HomoloGene: 8556 GeneCards: TRPS1
Gene location (Human) Chr. Chromosome 8 (human)[1] Band 8q23.3 Start 115,408,496 bp[1] End 115,809,673 bp[1]
Gene location (Mouse) Chr. Chromosome 15 (mouse)[2] Band 15 C|15 19.18 cM Start 50,654,752 bp[2] End 50,890,463 bp[2]
Gene ontology Molecular function • DNA binding • sequence-specific DNA binding • RNA polymerase II transcription factor binding • GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity • GO:0001077, GO:0001212, GO:0001213, GO:0001211, GO:0001205 DNA-binding transcription activator activity, RNA polymerase II-specific • zinc ion binding • chromatin binding • metal ion binding • GO:0001948 protein binding • nucleic acid binding • protein domain specific binding • RNA polymerase II regulatory region sequence-specific DNA binding • GO:0001078, GO:0001214, GO:0001206 DNA-binding transcription repressor activity, RNA polymerase II-specific • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component • transcription factor complex • nucleoplasm • cell nucleus • nuclear chromatin • macromolecular complex Biological process • skeletal system development • regulation of transcription, DNA-templated • negative regulation of transcription from RNA polymerase II promoter • transcription from RNA polymerase II promoter • transcription, DNA-templated • NLS-bearing protein import into nucleus • regulation of chondrocyte differentiation • positive regulation of transcription from RNA polymerase II promoter • cell differentiation • protein heterooligomerization 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_001330599	NM_032000 NM_001310481 NM_001310485
RefSeq (protein)	NP_001269831 NP_001269832 NP_001317528 NP_054831	n/a
Location (UCSC)	Chr 8: 115.41 – 115.81 Mb	Chr 15: 50.65 – 50.89 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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).[8]

References

1. GRCh38: Ensembl release 89: ENSG00000104447 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000038679 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. 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.
7. 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.
8. "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.