Tricho-rhino-phalangeal syndrome Type 1

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]
End	115,809,673 bp[1]
Gene location (Mouse)
Chr.	Chromosome 15 (mouse)[2]
End	50,890,463 bp[2]
RNA expression pattern
	Top expressed in
	lactiferous duct; ; Achilles tendon; ; hair follicle; ; tibia; ; synovial joint; ; nipple; ; synovial membrane; ; globus pallidus; ; internal globus pallidus; ; external globus pallidus;
	Top expressed in
	upper lip; ; hand; ; maxillary prominence; ; foot; ; vas deferens; ; secondary oocyte; ; aortic valve; ; calvaria; ; ankle; ; mammary gland;
	More reference expression data
	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
	7227
	83925
	ENSG00000104447
	ENSMUSG00000038679
	Q9UHF7
	Q925H1
	NM_001282902; NM_001282903; NM_014112; NM_001330599
	NM_032000; NM_001310481; NM_001310485
	NP_001269831; NP_001269832; NP_001317528; NP_054831
	n/a
	Wikidata
View/Edit Human	View/Edit Mouse

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

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

GRCh38: Ensembl release 89: ENSG00000104447 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000038679 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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.
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.
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.
"Entrez Gene: Trichorhinophalangeal syndrome I".

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.

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000104447 - Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid8530105-5] 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.

[pmid10615131-6] 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.

[pmid10647898-7] 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.

[entrez-8] "Entrez Gene: Trichorhinophalangeal syndrome I".

Tricho-rhino-phalangeal syndrome Type 1

References

Further reading

External links