QuickView for TCOF1;jsessionid=48F476EEDA5C0C6C45D14ECEB383885F (gene)

Gene Symbol:

TCOF1 Homo sapiens

Full name:

treacle ribosome biogenesis factor 1

Synonyms:

MFD1, TCS, TCS1, treacle, treacle protein, Treacher Collins syndrome protein, Treacher Collins-Franceschetti syndrome 1, nucleolar trafficking phosphoprotein

Genomic Location:

Chr 5: 149717428-149760064

Description:

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 varian...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  C. elegans ,  Macaca mulatta ,  Canis lupus familiaris ,  Gallus gallus ,  Pan troglodytes ,  Bos taurus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

USF_Q6 ,  TTANTCA_UNKNOWN ,  CACGTG_MYC_Q2 ,  MAX_01 ,  MYCMAX_B ,  MYCMAX_01 ,  MGGAAGTG_GABP_B ,  SCGGAAGY_ELK1_02 ,  CTTTGT_LEF1_Q2

Cytogenetic Map:

5q32-q33.1

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