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] 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]
RNA expression pattern Bgee Human Mouse (ortholog) 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 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 [3] [4]
Wikidata
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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

Further reading

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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