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TRPS1
Identifiers
Aliases	TRPS1, GC79, LGCR, transcriptional repressor GATA binding 1
External IDs	OMIM: 604386; MGI: 1927616; HomoloGene: 8556; GeneCards: TRPS1; OMA:TRPS1 - orthologs
Gene location (Human) Chr. Chromosome 8 (human) Band 8q23.3 Start 115,408,496 bp End 115,809,673 bp
Gene location (Mouse) Chr. Chromosome 15 (mouse) Band 15 C|15 19.18 cM Start 50,654,752 bp End 50,890,463 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in lactiferous duct Achilles tendon tendon of biceps brachii hair follicle tibia cartilage tissue synovial joint dorsal motor nucleus of vagus nerve gingival epithelium nipple Top expressed in upper lip hand maxillary prominence foot vas deferens zygote Rostral migratory stream secondary oocyte aortic valve calvaria More reference expression data BioGPS n/a
Gene ontology Molecular function DNA binding sequence-specific DNA binding DNA-binding transcription factor activity DNA-binding transcription activator activity, RNA polymerase II-specific zinc ion binding chromatin binding metal ion binding protein binding nucleic acid binding protein domain specific binding RNA polymerase II transcription regulatory region sequence-specific DNA binding DNA-binding transcription repressor activity, RNA polymerase II-specific DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component transcription regulator complex nucleoplasm nucleus protein-containing complex Biological process skeletal system development regulation of transcription, DNA-templated negative regulation of transcription by RNA polymerase II transcription by RNA polymerase II transcription, DNA-templated NLS-bearing protein import into nucleus regulation of chondrocyte differentiation positive regulation of transcription by RNA polymerase II 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
Wikidata
View/Edit Human View/Edit Mouse

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).

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. S2CID 21447066.
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/s004399900176. 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. S2CID 21641267.

External links

• TRPS1 protein, human at the U.S. 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.

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