Cell Biology Antibodies 8

Anti-TCOF1 Antibody (CAB2512)

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SKU:
CAB2512
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Description

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Antibody Name:Anti-TCOF1 Antibody
Antibody SKU:CAB2512
Antibody Size:20uL, 50uL, 100uL
Application:WB
Reactivity:Human
Host Species:Rabbit
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 659-958 of human TCOF1 (NP_001008657.1).
Application:WB
Recommended Dilution:WB 1:500 - 1:2000
Reactivity:Human
Positive Samples:BT-474, 293T
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 659-958 of human TCOF1 (NP_001008657.1).
Purification Method:Affinity purification
Storage Buffer:Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:IgG
Sequence:VRVG TQAP RKAG TATS PAGS SPAV AGGT QRPA EDSS SSEE SDSE EEKT GLAV TVGQ AKSV GKGL QVKA ASVP VKGS LGQG TAPV LPGK TGPT VTQV KAEK QEDS ESSE EESD SEEA AASP AQVK TSVK KTQA KANP AAAR APSA KGTI SAPG KVVT AAAQ AKQR SPSK VKPP VRNP QNST VLAR GPAS VPSV GKAV ATAA QAQT GPEE DSGS SEEE SDSE EEAE TLAQ VKPS GKTH QIRA ALAP AKES PRKG AAPT PPGK TGPS AAQA GKQD DSGS SSEE SDSD GEAP AAVT SAQD QESS
Gene ID:6949
Uniprot:Q13428
Cellular Location:Nucleus, nucleolus
Calculated MW:96kDa/144kDa/148kDa/152kDa/155kDa
Observed MW:152kDa
Synonyms:TCOF1, MFD1, TCS, TCS1, treacle
Background: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.
UniProt Protein Function:treacle: May be involved in nucleolar-cytoplasmic transport. May play a fundamental role in early embryonic development, particularly in development of the craniofacial complex. May participate in certain stages of ribosome biogenesis. Defects in TCOF1 are the cause of Treacher Collins syndrome type 1 (TCS1). It is 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. 8 isoforms of the human protein are produced by alternative splicing.
UniProt Protein Details:

Protein type:Transcription, coactivator/corepressor; RNA-binding; Nucleolus

Chromosomal Location of Human Ortholog: 5q32

Cellular Component: cytoplasm; nucleolus; nucleus

Molecular Function:protein binding; transporter activity

Biological Process: transport; transcription of nuclear rRNA large RNA polymerase I transcript; skeletal development

Disease: Treacher Collins Syndrome 1

NCBI 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]
UniProt Code:Q13428
NCBI GenInfo Identifier:302393806
NCBI Gene ID:6949
NCBI Accession:Q13428.3
UniProt Secondary Accession:Q13428,Q6SC72, Q7Z5W9, Q96A52, Q99408, Q99860, A0JLU0 B4E111,
UniProt Related Accession:Q13428
Molecular Weight:1488
NCBI Full Name:Treacle protein
NCBI Synonym Full Names:Treacher Collins-Franceschetti syndrome 1
NCBI Official Symbol:TCOF1  
NCBI Official Synonym Symbols:TCS; MFD1; TCS1; treacle  
NCBI Protein Information:treacle protein; Treacher Collins syndrome protein; nucleolar trafficking phosphoprotein
UniProt Protein Name:Treacle protein
UniProt Synonym Protein Names:Treacher Collins syndrome protein
Protein Family:Treacle protein
UniProt Gene Name:TCOF1  
UniProt Entry Name:TCOF_HUMAN
Anti-TCOF1 Antibody (CAB2512)Western blot analysis of extracts of various cell lines, using TCOF1 antibody (CAB2512) at 1:1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (CABS014) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST.
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Additional Information

Product Type:
Antibody
Reactivity:
Human
Host Species:
Rabbit
Isotype:
IgG
Research Area:
Cell Biology
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