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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TCOF1 Gene

protein-coding GIFtS: 63
GCID: GC05P149717

Treacher Collins-Franceschetti syndrome 1

Explore 21 diseases affiliated with
TCOF1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Treacher Collins-Franceschetti Syndrome 1¹ ²		TCS1² ⁵
Treacle¹		Nucleolar Trafficking Phosphoprotein²
Treacher Collins Syndrome Protein² ³		Treacle Protein²
MFD1² ⁵

External Ids:	HGNC: 11654¹	Entrez Gene: 6949²	Ensembl: ENSG00000070814⁷	OMIM: 606847⁵	UniProtKB: Q13428³

Export aliases for TCOF1 gene to outside databases

Previous GC identifers: GC05P149806 GC05P150198 GC05P149720 GC05P149765 GC05P144885

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for 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)

UniProtKB/Swiss-Prot: TCOF_HUMAN, Q13428

Function: May be involved in nucleolar-cytoplasmic transport. May play a fundamental role in early embryonic

development, particularly in development of the craniofacial complex (By similarity). May participate in certain

stages of ribosome biogenesis

Gene Wiki entry for TCOF1 (Treacle protein)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000005.9 NC_018916.1 NT_029289.11

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the TCOF1 gene promoter:
Nkx2-2 HNF-3beta CBF-C GATA-1 Egr-2 CBF-A CP1A CP1C NF-Y CBF(2)
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: TCOF1 promoter sequence

Search SABiosciences Chromatin IP Primers for TCOF1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TCOF1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q32 Ensembl cytogenetic band: 5q32 HGNC cytogenetic band: 5q32

TCOF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TCOF1 gene location

GeneLoc information about chromosome 5 GeneLoc Exon Structure

GeneLoc location for GC05P149717: view genomic region (about GC identifiers)

Start:	149,737,202 bp from pter	End:	149,779,871 bp from pter
Size:	42,670 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: TCOF_HUMAN, Q13428 (See protein sequence)

Recommended Name: Treacle protein

Size: 1488 amino acids; 152106 Da

Subunit: 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

Subcellular location: Nucleus, nucleolus

Sequence caution: Sequence=AAH16144.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A

sequence;

Secondary accessions: A0JLU0 B4E111 Q6SC72 Q7Z5W9 Q96A52 Q99408 Q99860

Alternative splicing: 8 isoforms: Q13428-1 Q13428-2 Q13428-3 Q13428-4 Q13428-5 Q13428-6 Q13428-7 Q13428-8

(No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TCOF1: NX_Q13428

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q13428

TCOF1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (6 alternative transcripts):

NP_000347.2 NP_001008657.1 NP_001128715.1 NP_001128716.1 NP_001128717.1 NP_001182070.1

ENSEMBL proteins:

ENSP00000409944 ENSP00000325223 ENSP00000406888 ENSP00000377811 ENSP00000390717

ENSP00000421655 ENSP00000427484 ENSP00000426471 ENSP00000426587 ENSP00000422567

ENSP00000400939 ENSP00000367028

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	Uscn Proteins for TCOF1

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	--
GO:0005730	nucleolus	IDA	--
GO:0005737	cytoplasm	IDA	--

TCOF1 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

TCOF1 for domains About GeneDecksing

3 InterPro domains/families:

IPR003993 TCS_treacle

IPR017859 Treacle-like_TCS

IPR006594 LisH_dimerisation

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

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: TCOF_HUMAN, Q13428

Function: May be involved in nucleolar-cytoplasmic transport. May play a fundamental role in early embryonic

development, particularly in development of the craniofacial complex (By similarity). May participate in certain

stages of ribosome biogenesis

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		hsa-miR-579 hsa-miR-1206 hsa-miR-3152-3p hsa-miR-466 hsa-miR-377 hsa-miR-3919 hsa-miR-1183
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Gene Editing
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TCOF1

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005215	transporter activity	TAS	9096354
GO:0005515	protein binding	IPI	17620599

TCOF1 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for TCOF1:

Synthetic lethal with Ras

Animal Models:
Mouse knock-out Tcof1^tm1Mjd for TCOF1
13 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Tcof1):

cellular	craniofacial	digestive/alimentary	embryogenesis	endocrine/exocrine gland
growth/size	hearing/vestibular/ear	mortality/aging	nervous system	respiratory system
skeleton	taste/olfaction	vision/eye

TCOF1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Ribosome biogenesis in eukaryotes

Ribosome biogenesis in eukaryotes

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 Kegg Pathway (Kegg details for TCOF1):

Ribosome biogenesis in eukaryotes

TCOF1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for TCOF1

STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

5/26 Interacting proteins for TCOF1 (Q13428^{1, 3} ENSP00000406888⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 26)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ARRB1	P49407¹^,³, ENSP00000377141⁴	EBI-396105,EBI-2561130 I2D: score=2 STRING: ENSP00000377141
ARRB2	P32121¹^,³, ENSP00000269260⁴	EBI-396105,EBI-714559 I2D: score=2 STRING: ENSP00000269260
CSNK2A2	P19784³, ENSP00000262506⁴	I2D: score=2 STRING: ENSP00000262506
PCNA	P12004³, ENSP00000368438⁴	I2D: score=2 STRING: ENSP00000368438
UBTF	P17480³, ENSP00000302640⁴	I2D: score=2 STRING: ENSP00000302640

About this table

Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001501	skeletal system development	TAS	9096354
GO:0006810	transport	--	--
GO:0042790	transcription of nuclear large rRNA transcript from RNA polymerase I promoter	IEA	--

TCOF1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

TCOF1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for TCOF1
2 Novoseek chemical compound relationships for TCOF1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
rrna	24.9	1	12777385 (1)
serine	15.4	2	9299440 (1), 9074926 (1)

Search CenterWatch for drugs/clinical trials and news about TCOF1 / TCOF

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for TCOF1 gene (7 alternative transcripts):

NM_000356.3 NM_001008657.2 NM_001135243.1 NM_001135244.1 NM_001135245.1 NM_001195141.1 NM_001008656.2

Unigene Cluster for TCOF1:

Treacher Collins-Franceschetti syndrome 1

Hs.519672 [show with all ESTs]

Unigene Representative Sequence: AB209317

16 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000445265 ENST00000323668 ENST00000439160 ENST00000394269(uc003lrw.3)

ENST00000427724(uc011dci.1) ENST00000504761 ENST00000513346 ENST00000515516

ENST00000515035 ENST00000514442 ENST00000506063 ENST00000506767 ENST00000513538

ENST00000506630 ENST00000451292 ENST00000377797(uc003lry.3 uc003lrz.3 uc011dch.2 uc003lrx.3 uc003lsa.3)

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		hsa-miR-579 hsa-miR-1206 hsa-miR-3152-3p hsa-miR-466 hsa-miR-377 hsa-miR-3919 hsa-miR-1183
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TCOF1

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.313465 DT.92365041 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):

CD654855 CD643248 BX425660 AI392723 BC014559 BC016144 BC033093 BE792061

BQ878420 BP355691 CA307505 AW001182 BQ637879 BE728897 AL705228 BQ420611

BC008331 BQ680644 AK096467 BQ052523 BQ052970 BM475199 BM802904 BM835081

GeneLoc Exon Structure

5/15 Alternative Splicing Database (ASD) splice patterns (SP) for TCOF1 (see all 15) About this scheme

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:

ECgene alternative splicing isoforms for TCOF1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

TCOF1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTGTCCCCTA

About this image

TCOF1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Bone

Stylopod Long Bone

Bone

Zeugopod Long Bone

Bone

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See TCOF1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TCOF1

SOURCE GeneReport for Unigene cluster: Hs.519672

SABiosciences Custom PCR Arrays for TCOF1

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TCOF1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for TCOF1 gene from 3/11 species (see all 11) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Tcof1^{1 , 5}	Treacher Collins Franceschetti syndrome 1, homolog^{1, 5}	70.75(n)¹ 61.02(a)¹		18 (34.41 cM)⁵ 21453¹ NM_011552.3¹ NP_035682.1¹ 60813755⁵
chicken (Gallus gallus)	Aves	TCOF1¹	Treacher Collins-Franceschetti syndrome 1	44.61(n) 32.9(a)		416276 NM_001012785.2 NP_001012803.2
worm (Caenorhabditis elegans)	Secernentea	clec-161⁶	C-type lectin domain-containing protein 161	7(a)	1 ↔ 1	III(9602942-9608647)

ENSEMBL Gene Tree for TCOF1 (if available)
TreeFam Gene Tree for TCOF1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for TCOF1 gene

NOLC1²

1 SIMAP similar gene for TCOF1 using alignment to 7 protein entries: TCOF_HUMAN (see all proteins):

DKFZp434G1035

TCOF1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 5 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs111365835^1,2	C,	non-pathogenic	155638785(+)	`CCAGTA/CGGGGG`	5	--	int¹		0	--	--	--	--
rs112447402^1,2	C,	non-pathogenic	155654311(+)	`ACCACA/GTGCTT`	6	--	int¹		0	--	--	--	--
rs143713714^1,2	C,	non-pathogenic	155662475(+)	`CATGGC/GTGTGG`	6	--	int¹		0	--	--	--	--
rs56113366^1,2	C,F,	non-pathogenic	155662921(+)	`GGCCCG/ATCCCC`	6	--	int¹		1		NA	120
rs41287124^1,2	C,	non-pathogenic	155669553(+)	`CATTCA/GTAGAT`	6	--	int¹		1		NA	120
rs146509895^1,2	C,	probable-non-pathogenic	155640905(+)	`GCCTCA/CGTGGT`	10	S	syn¹		1		NA	4438
rs149395927^1,2	C	probable-non-pathogenic	155644628(+)	`ACCCCC/TTCCAG`	10	P	syn¹		1		NA	4482
rs151344574^1,2	C,	probable-non-pathogenic	155657588(+)	`GAGCCA/GCCAAC`	6	--	int¹		0	--	--	--	--
rs151344570^1,2	C	probable-non-pathogenic	155661476(+)	`AGTGCG/AGACAG`	12	/A	syn¹		1		EU	1247
rs113299143^1,2	C,F,	probable-non-pathogenic	155662390(+)	`CAGGCG/AAAGCC`	12	/A	syn¹		2		NA EU	3885

HapMap Linkage Disequilibrium report for TCOF1 (149737202 - 149779871 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 6 variations for TCOF1
1 CNV: 99323
5 Indels: 42016 40809 27833 62442 46791
Human Gene Mutation Database (HGMD): TCOF1

Locus Specific Mutation Databases (LSDB): TCOF1

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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TCOF1 for disorders           About GeneDecksing

OMIM gene information: 606847
OMIM disorders: 154500
UniProtKB/Swiss-Prot: TCOF_HUMAN, Q13428

Defects in TCOF1 are the cause of Treacher Collins syndrome type 1 (TCS1) [MIM:154500]. 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

20/21 diseases for TCOF1 (see all 21): About MalaCards

treacher collins syndrome cerebro-costo-mandibular syndrome choanal atresia cleft palate

microtia congenital heart defect macrostomia sleep apnea

goldenhar syndrome esophageal atresia dysostosis apnea

was-related disorders craniosynostosis coloboma lissencephaly

microcephaly hepatitis b esophagitis pharyngitis

5 diseases from the University of Copenhagen DISEASES database for TCOF1:

Treacher Collins syndrome Cleft palate Goldenhar syndrome Coloboma

Choanal atresia

5 Novoseek disease relationships for TCOF1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
treacher collins syndrome	98.4	51	11013442 (2), 12777385 (2), 20340163 (2), 15214011 (2) (see all 39)
conductive hearing loss	80	2	8488840 (1), 8281138 (1)
microtia	78.1	2	15770127 (2)
cleft palate	70.5	6	18688869 (4), 8488840 (1), 8281138 (1)
congenital malformation	13.2	2	15249688 (1), 10888597 (1)

Genatlas disease: TCOF1

Treacher Collins-Franceschetti syndrome,mandibulofacial dysostosis characterized by antimongoloid slant of

eyes,coloboma of inferior lid,narrowing of the external ears and malformation of the middle ear ossicles which may

lead to deafness,hypoplasia of the mandible (macrognathia) and cleft palate and macrostomia

GeneTests: TCOF1

Treacher Collins Syndrome

Genetic Association Database (GAD): TCOF1
Human Genome Epidemiology (HuGE) Navigator: TCOF1 (6 documents)

Export disorders for TCOF1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for TCOF1 gene, integrated from 9 sources (see all 106):
(articles sorted by number of sources associating them with TCOF1)

Utopia: connect your pdf to the dynamic
world of online information

TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins syndrome throughout its coding region. (PubMed id 9096354)^{1, 2, 9} Wise C.A.... Jabs E.W. (1997)
Proteomic analysis of human Nop56p-associated pre-ribosomal ribonucleoprotein complexes. Possible link between Nop56p and the nucleolar protein treacle responsible for Treacher Collins syndrome. (PubMed id 12777385)^{1, 2, 9} Hayano T....Takahashi N. (2003)
Identification of the complete coding sequence and genomic organization of the Treacher Collins syndrome gene. (PubMed id 9074926)^{1, 2, 9} 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, 4, 9} 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, 2, 9} Edwards S.J.... Dixon M.J. (1997)
A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)^{1, 2} Beausoleil S.A.... Gygi S.P. (2006)
Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)^{1, 2} Olsen J.V....Mann M. (2006)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Another face of the Treacher Collins syndrome (TCOF1) gene: identification of additional exons. (PubMed id 15019983)^{1, 2} So R.B.... Valdez B.C. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
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Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 6949	HGNC: 11654	AceView: TCOF1	Ensembl:ENSG00000070814	euGenes: HUgn6949
ECgene: TCOF1	Kegg: 6949	H-InvDB: TCOF1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for TCOF1	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TCOF1

Intellectual Property for TCOF1 gene
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Patent Information for TCOF1 gene:
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