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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].

Name	OMIM ID	Ensembl ID	HGNC ID	PHARMGKB ID	Map Location
treacle ribosome biogenesis factor 1	MIM:606847	Ensembl:ENSG00000070814	HGNC:HGNC:11654	PA36405	5q32-q33.1

Gene Categories:

TRANSPORTER

GO terms in TCOF1

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
CC	IDA	GO:0005730	nucleolus
CC	IDA	GO:0005829	cytosol
MF	IDA	GO:0001042	RNA polymerase I core binding
MF	HDA	GO:0003723	RNA binding
MF	TAS	GO:0005215	transporter activity
MF	IPI	GO:0005515	protein binding
MF	IPI	GO:0046982	protein heterodimerization activity
MF	IPI	GO:0097110	scaffold protein binding

Gene expression in normal tissue: TCOF1

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Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in TCOF1

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

Gene-Drug: Aster Plot

Drug ID	Drug Name	Model Num.
iGMDRD68	Paclitaxel	1

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in TCOF1

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