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TCOF1

Summary: This gene encodes a nucleolar protein with a LIS1 homology domain. The protein is involved in ribosomal DNA gene transcription through its interaction with upstream binding factor (UBF). Mutations in this gene have been associated with Treacher Collins syndrome, a disorder which includes abnormal craniofacial development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008].

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Name	OMIM ID	Ensembl ID	HGNC ID	PHARMGKB ID	Map Location
Nametreacle ribosome biogenesis factor 1 OMIM IDMIM:606847 Ensembl IDEnsembl:ENSG00000070814 HGNC IDHGNC:HGNC:11654 PHARMGKB IDPA36405 Map Location5q32-q33.1

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TRANSPORTER

GO terms in TCOF1

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Term Type	Evidence Type	GO Term ID	GO Des.
BP	TAS	GO:0001501	skeletal system development
BP	IMP	GO:0006417	regulation of translation
BP	IMP	GO:0014029	neural crest formation
BP	IMP	GO:0014032	neural crest cell development
CC	IDA	GO:0001650	fibrillar center
CC	IDA	GO:0005634	nucleus

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Gene expression in normal tissue: TCOF1

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Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in TCOF1

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Database	Pathway ID	Pathway Des.
kegg	hsa03008	Ribosome biogenesis in eukaryotes - Homo sapiens (human)

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Gene-Drug: Aster Plot

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Drug ID	Drug Name	Model Num.
iGMDRD68	Paclitaxel	1

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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in TCOF1

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	Model	Level	Reference ID	Tissue	Cancer	Drug	Clinical Response	Source
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Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.