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Aliases & Descriptions for TCOF1
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases MFD1 2 , 5 treacle 1 , 2
Descriptions Treacher Collins syndrome protein 2 , 3 Treacher Collins-Franceschetti syndrome 1 2 nucleolar trafficking phosphoprotein 2
Search outside databases for aliases for TCOF1 genePrevious GC identifers: GC05P149806 GC05P150198 GC05P149720 GC05P149765
Summaries for TCOF1 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for TCOF1 : This gene encodes a nucleolar protein with a LIS1 homology domain. The protein is involved inribosomal DNA gene transcription through its interaction with upstream binding factor (UBF).Mutations in this gene have been associated with Treacher Collins syndrome, a disorder whichincludes abnormal craniofacial development. Multiple transcript variants encoding differentisoforms have been found for this gene. [provided by RefSeq] UniProtKB/Swiss-Prot: TCOF_HUMAN, Q13428 Function : May be involved in nucleolar-cytoplasmic transport. May play a fundamental role in earlyembryonic development, particularly in development of the craniofacial complex (By similarity)
Gene Wiki entry for TCOF1 (Treacle_protein)
Genomic Location for TCOF1
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the TCOF1 gene Entrez Gene cytogenetic band: 5q32-q33.1 Ensembl cytogenetic band: 5q33.1 HGNC cytogenetic band: 5q31.3-q33.3 TCOF1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 5 GeneLoc Exon Structure
GeneLoc location for GC05P149717:
(about GC identifiers )
Start:
149,717,428 bp from pter
End:
149,760,064 bp from pter
Size:
42,637 bases
Orientation:
plus strand
RefSeq DNA sequence: NC_000005.8 NT_029289.10 Proteins for TCOF1
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: TCOF_HUMAN, Q13428 (See
protein sequence )Recommended Name: Treacle protein Size : 1488 amino acids; 152104 Da
Subcellular location : Nucleus, nucleolus (Potential)
Secondary accessions : Q6SC72 Q7Z5W9 Q96A52 Q99408 Q99860Alternative splicing : 5 isoforms : Q13428-1 Q13428-2 Q13428-3 Q13428-4 Q13428-5
Post-translational modifications:
Phosphorylated upon DNA damage, probably by ATM or ATR1
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (6 alternative transcripts):
NP_000347.2 NP_001008656.1 NP_001008657.1 NP_001128715.1 NP_001128716.1 NP_001128717.1 ENSEMBL proteins: ENSP00000377811 ENSP00000367028 ENSP00000314349 ENSP00000325223 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 2 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for TCOF1: Assays for TCOF1:
Protein
Domains/ Families for TCOF1(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry Q13428 ProtoNet protein and cluster: Q13428
2 Blocks protein families : IPB003993 Treacher Collins syndrome protein Treacle signature IPB006594 Lissencephaly type-1-like homology motif UniProtKB/Swiss-Prot: TCOF_HUMAN, Q13428 Similarity : Contains 1 LisH domain
Gene Function for TCOF1
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
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Millipore ,
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SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 6 ): NM_001135243 Applied Biosystems Silencer ® siRNAs for TCOF1 Sigma-Aldrich siRNA and siRNA Panels for TCOF1 Sigma-Aldrich shRNA for TCOF1 Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 6 ): NM_000356                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 6 ): NM_000356                                  untagged cDNA clones in CMV expression vector (see all 6 ): NM_000356  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_001135243 UniProtKB/Swiss-Prot: TCOF_HUMAN, Q13428 Function : May be involved in nucleolar-cytoplasmic transport. May play a fundamental role in earlyembryonic development, particularly in development of the craniofacial complex (By similarity)
13 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Tcof1) :2 Gene Ontology (GO) molecular function terms (links to tree view) :
About this table
Pathways & Interactions for TCOF1
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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Gene Network CentralTM Interacting Genes and Proteins Network for TCOF1 5/16 Interacting proteins for TCOF1 (Q13428 1 ENSP00000314349 3 ) via UniProtKB, MINT, and/or STRING (see all 16
)About this table 2 Gene Ontology (GO) biological process terms (links to tree view) :
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Drugs & Compounds for TCOF1 (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for TCOF1 1 Novoseek chemical compound relationship for TCOF1 gene
Compound
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
rrna
27.63
1
12777385 (1)
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Transcripts for TCOF1(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
Abnova ,
siRNAs from Applied Biosystems ,
Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
Tagged/untagged cDNA clones from
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 6 ): NM_001135243 Sigma-Aldrich siRNA and siRNA Panels for TCOF1 Sigma-Aldrich shRNA for TCOF1 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_000356 NM_001008656 NM_001008657 NM_001135243 NM_001135244 NM_001135245
REFSEQ mRNAs for TCOF1 gene (6 alternative transcripts): NM_000356.3 NM_001008656.2 NM_001008657.2 NM_001135243.1 NM_001135244.1 NM_001135245.1
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000356 NM_001008656 NM_001008657 NM_001135243 NM_001135244 NM_001135245
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 6 ): NM_000356                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 6 ): NM_000356                                  untagged cDNA clones in CMV expression vector (see all 6 ): NM_000356  
Additional cDNA sequence: AB209317.1 AK096467.1 AK225284.1 AK296918.1 AK299167.1 AK303611.1 AK307586.1 AL133039.1 AY460334.1 BC008331.1 BC011764.2 BC014559.2 BC016144.1 BC027252.1 BC033093.1 U40847.1 U76366.1
21 DOTS entries : DT.91754561 DT.99946398 DT.92365041 DT.313465 DT.91754556 DT.313464 DT.91639367 DT.100810088 DT.91754562 DT.99963839 DT.101982234 DT.120836695 DT.92005727 DT.97862262 DT.100772141 DT.100772142 DT.102828287 DT.86856410 DT.95178450 DT.120836709 DT.95178449
24/298 AceView cDNA sequences (see all 298
):BE792061 BX424546 BM556446 BU156635 BQ878420 BE728897 BM852328 BG750853 AW001182 CD654855 BQ680644 AI638669 BE793163 BM549968 BC011764 CD643248 BM664489 BP355691 BQ226231 BM834587 BQ052523 BQ637879 BM835081 CA487251
highest scoring ESTs for TCOF1 :U76366 AA343053 AA399645 AA504058 AA580140 AA988028 AI034160 AI086146 AI304411 AI345337
Unigene Cluster for TCOF1: Treacher Collins-Franceschetti syndrome 1 Hs.519672 [show with all ESTs ] Unigene Representative Sequence: AB209317 GeneLoc Exon Structure 5/15 Alternative Splicing Database (ASD) splice patterns (SP) for TCOF1 (see all 15
) ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b · 13c ^ 14a · 14b · 14c ^ 15a · 15b · 15c ^ SP1 :                                                     SP2 :                                                     SP3 :                                                     SP4 :                                                     SP5 :                                                    
ExUns: 16 ^ 17 ^ 18a · 18b ^ 19a · 19b · 19c ^ 20 ^ 21a · 21b ^ 22a · 22b · 22c ^ 23 SP1 :                             SP2 :                             SP3 :                             SP4 :                             SP5 :                            
About this scheme ECgene alternative splicing isoforms for TCOF1 4 Ensembl transcripts including schematic representations : ENST00000394269
ENST00000377797
ENST00000323753
ENST00000323668
Expression for TCOF1
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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TCOF1 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for TCOF1 1 / 2 / 3
9 probe-sets matching TCOF1 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: --SOURCE GeneReport for Unigene cluster: Hs.519672 Expression variation in blood from EXPOLDB for TCOF1
Orthologs for TCOF1
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for TCOF1 gene from 5/6 species (see all 6
)
About this table Species with no ortholog for TCOF1 ENSEMBL Gene Tree for TCOF1 Paralogs for TCOF1 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for TCOF1 gene AKAP12 2 NOLC1 2
SNPs/Variants for TCOF1 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for TCOF1 (up to first 250kb)
Disorders & Mutations for TCOF1
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 606847 disorders : 154500 UniProtKB/Swiss-Prot: TCOF_HUMAN, Q13428
Defects in TCOF1 are the cause of Treacher Collins syndrome (TCS) [MIM:154500]. TCS is anautosomal dominant disorder of craniofacial development that occurs with an incidence of 1/50,000live births. The clinical features of TCS are bilaterally symmetrical and include: (1)abnormalities of the external ears, atresia of the external ear canals, and malformation of themiddle ear ossicles, which may result in conductive hearing loss; (2) lateral downward sloping ofpalpebral fissures, frequently with colobomas of the lower eyelids; (3) hypoplasia of the mandibleand zygomatic complex; (4) cleft palate
5 Novoseek disease relationships for TCOF1 gene
About this table Genatlas disease: TCOF1 Treacher Collins-Franceschetti syndrome,mandibulofacial dysostosis characterized by antimongoloidslant of eyes,coloboma of inferior lid,narrowing of the external ears and malformation of themiddle ear ossicles which may lead to deafness,hypoplasia of the mandible (macrognathia) and cleftpalate and macrostomia GeneTests: TCOF1 Treacher Collins Syndrome Human Gene Mutation Database : TCOF1 Genetic Association Database: TCOF1 Human Genome Epidemiology Navigator: TCOF1 (2 documents)
Medical News for TCOF1 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for TCOF1 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/72 PubMed articles for TCOF1 gene (see all 72
): TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins syndrome throughout its coding region. (PubMed id 9096354) 1, 3, 4 Wise C.A.... Jabs E.W. (1997) Identification of the complete coding sequence and genomic organization of the Treacher Collins syndrome gene. (PubMed id 9074926) 1, 3, 4 Dixon J....Dixon M.J. (1997) Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation. (PubMed id 15340364) 1, 3, 6 Teber O.A....Wieczorek D. (2004) The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon. (PubMed id 9042910) 1, 3, 4 Edwards S.J.... Dixon M.J. (1997) A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243) 3, 4 Beausoleil S.A.... Gygi S.P. (2006) Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983) 3, 4 Olsen J.V....Mann M. (2006) Another face of the Treacher Collins syndrome (TCOF1) gene: identification of additional exons. (PubMed id 15019983) 3, 4 So R.B.... Valdez B.C. (2004) Large-scale characterization of HeLa cell nuclear phosphoproteins. (PubMed id 15302935) 3, 4 Beausoleil S.A....Gygi S.P. (2004) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 3, 4 Gerhard D.S....Malek J. (2004) Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. (PubMed id 8563749) 3, 4 Dixon J.... Wasmuth J.J. (1996)
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Genome Databases showing TCOF1
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing TCOF1
(According to HUGE )
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--
Specialized Databases showing TCOF1 (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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Name Description
GeneReviews http://www.genetests.org/query?gene=TCOF1
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-- Services for TCOF1 (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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Products for TCOF1:
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Technologies for TCOF1
Transcripts for TCOF1
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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009