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Mouse Anti-TCOF1 Recombinant Antibody (CBYJT-2328) (CBMAB-T1439-YJ)

Provided herein is a Mouse monoclonal antibody, which binds to TCOF1 (Treacle Ribosome Biogenesis Factor 1). The antibody can be used for immunoassay techniques, such as S-ELISA, IF, ELISA, WB.
See all TCOF1 antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
CBYJT-2328
Antibody Isotype
IgG1, κ
Application
S-ELISA, IF, ELISA, WB

Basic Information

Immunogen
TCOF1 (NP_001008657, 2 a.a. ~ 82 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa
Specificity
Human
Antibody Isotype
IgG1, κ
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Buffer
PBS, pH 7.2
Storage
Store at 4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.
Epitope
aa 2-82

Target

Full Name
Treacher Collins-Franceschetti syndrome 1
Introduction
TCOF1 is a nucleolar protein with a LIS1 homology domain. TCOF1 is involved in ribosomal DNA gene transcription through its interaction with upstream binding factor (UBF). Mutations in TCOF1 have been associated with Treacher Collins syndrome, a disorder which includes abnormal craniofacial development.
Entrez Gene ID
6949
UniProt ID
Q13428
Alternative Names
Treacle Ribosome Biogenesis Factor 1; Treacher Collins-Franceschetti Syndrome 1; Treacher Collins Syndrome Protein; Nucleolar Trafficking Phosphoprotein; Treacle Protein; Treacle; MFD1; TCS1; TCS
Function
Nucleolar protein that acts as a regulator of RNA polymerase I by connecting RNA polymerase I with enzymes responsible for ribosomal processing and modification (PubMed:12777385, PubMed:26399832).
Required for neural crest specification: following monoubiquitination by the BCR(KBTBD8) complex, associates with NOLC1 and acts as a platform to connect RNA polymerase I with enzymes responsible for ribosomal processing and modification, leading to remodel the translational program of differentiating cells in favor of neural crest specification (PubMed:26399832).
Biological Process
Biological Process neural crest cell developmentIMP:UniProtKB1 Publication
Biological Process neural crest formationIMP:UniProtKB1 Publication
Biological Process nucleolar large rRNA transcription by RNA polymerase IIBA:GO_Central1 Publication
Biological Process regulation of translationIMP:UniProtKB1 Publication
Biological Process skeletal system developmentTAS:ProtInc1 Publication
Cellular Location
Nucleus, nucleolus
Involvement in disease
Treacher Collins syndrome 1 (TCS1):
A form of Treacher Collins syndrome, a disorder of craniofacial development. Treacher Collins syndrome is characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss.
PTM
Ubiquitinated. Monoubiquitination by the BCR(KBTBD8) complex promotes the formation of a NOLC1-TCOF1 complex that acts as a platform to connect RNA polymerase I with enzymes responsible for ribosomal processing and modification, leading to remodel the translational program of differentiating cells in favor of neural crest specification (PubMed:26399832).
Pyrophosphorylated by 5-diphosphoinositol pentakisphosphate (5-IP7). Serine pyrophosphorylation is achieved by Mg2+-dependent, but enzyme independent transfer of a beta-phosphate from a inositol pyrophosphate to a pre-phosphorylated serine residue.
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For research use only. Not intended for any clinical use.

Custom Antibody Labeling

We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

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