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TCOF1
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]
Protein class
Disease related genes, Human disease related genes, Plasma proteins
Predicted location
Intracellular
Single cell type specificity
Low cell type specificity
Immune cell specificity
Low immune cell specificity
Cell line specificity
Low cell line specificity
Interaction
Heterodimer; heterodimerizes with NOLC1 following monoubiquitination (PubMed:26399832). Part of a large pre-ribosomal ribonucleoprotein (RNP) complex, that consists of at least 62 ribosomal proteins, 45 nonribosomal proteins and both pre-rRNA and mature rRNA species. Within this complex directly interacts with NOP56 in an RNA-independent manner (PubMed:12777385).
More Types Infomation
- Recombinant Mouse Anti-Human TCOF1 Antibody (MOB-0833MZ)
-
- Species Reactivity: Human
- Type: Mouse antibody
- Application: WB
- Chicken Anti-TCOF1 Polyclonal IgY (BRD-0578MZ)
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- Species Reactivity: Human
- Type: Chicken antibody
- Application: WB
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For Research Use Only. Not For Clinical Use.