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... See more...

Aliases for TCOF1 Gene

Aliases for TCOF1 Gene

  • Treacle Ribosome Biogenesis Factor 1 2 3 5
  • Treacher Collins-Franceschetti Syndrome 1 2 3
  • Treacher Collins Syndrome Protein 3 4
  • Treacle Protein 3 4
  • Treacle 2 3
  • TCS 2 3
  • Nucleolar Trafficking Phosphoprotein 3
  • TCOF1 5
  • MFD1 3
  • TCS1 3

External Ids for TCOF1 Gene

Previous GeneCards Identifiers for TCOF1 Gene

  • GC05P149806
  • GC05P150198
  • GC05P149720
  • GC05P149765
  • GC05P149717
  • GC05P144885

Summaries for TCOF1 Gene

Entrez Gene Summary for TCOF1 Gene

  • 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]

GeneCards Summary for TCOF1 Gene

TCOF1 (Treacle Ribosome Biogenesis Factor 1) is a Protein Coding gene. Diseases associated with TCOF1 include Treacher Collins Syndrome 1 and Crouzon Syndrome. Among its related pathways are Ribosome biogenesis in eukaryotes. Gene Ontology (GO) annotations related to this gene include transporter activity.

UniProtKB/Swiss-Prot Summary for TCOF1 Gene

  • 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).

Gene Wiki entry for TCOF1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TCOF1 Gene

Genomics for TCOF1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TCOF1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J150356 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +0.3 293 3.4 CREB1 HNRNPL TFE3 SIX5 ZNF692 POLR2A RCOR2 BACH1 LARP7 GABPA LOC105378226 TCOF1 lnc-ARSI-2 ZNF300P1 RPS20P4 FJ601684-392 CD74
GH05J150447 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 50.8 +91.3 91324 3.4 HNRNPL CREB1 GATAD2A CTCF PRDM10 REST ZNF629 TFE3 SIX5 LEF1 RPS14 lnc-NDST1-1 lnc-NDST1-6 lnc-RPS14-2 HMGXB3 TCOF1 RBM22 ZNF300 RPL7P1 lnc-CD74-3
GH05J149956 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 38.3 -398.0 -397980 6.7 SP1 HNRNPL CREB1 CTCF ZBTB33 PRDM10 ZNF629 TFE3 IKZF1 NFKBIZ SLC26A2 lnc-PDE6A-2 HMGXB3 TIGD6 ZNF300 TCOF1 RPL7P1 CSNK1A1 ZNF300P1 PDGFRB
GH05J150355 Enhancer 0.2 ENCODE 600.7 -1.6 -1616 0.2 LOC105378226 TCOF1 lnc-ARSI-2 lnc-ARSI-1 ARSI
GH05J149449 Enhancer 1.6 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 60 -905.6 -905551 5.4 GATAD2A CTCF TFE3 LEF1 SOX13 IKZF1 NFKBIZ KDM1A RCOR2 JUND HMGXB3 TCOF1 TIGD6 RPL7P1 RPS20P4 PDGFRB CSNK1A1 CARMN RPS14 ARHGEF37
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TCOF1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TCOF1

Top Transcription factor binding sites by QIAGEN in the TCOF1 gene promoter:
  • CBF(2)
  • CBF-A
  • CBF-C
  • CP1A
  • CP1C
  • Egr-2
  • GATA-1
  • HNF-3beta
  • NF-Y
  • Nkx2-2

Genomic Locations for TCOF1 Gene

Genomic Locations for TCOF1 Gene
chr5:150,357,629-150,400,308
(GRCh38/hg38)
Size:
42,680 bases
Orientation:
Plus strand
chr5:149,737,202-149,779,871
(GRCh37/hg19)
Size:
42,670 bases
Orientation:
Plus strand

Genomic View for TCOF1 Gene

Genes around TCOF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TCOF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TCOF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TCOF1 Gene

Proteins for TCOF1 Gene

  • Protein details for TCOF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13428-TCOF_HUMAN
    Recommended name:
    Treacle protein
    Protein Accession:
    Q13428
    Secondary Accessions:
    • A0JLU0
    • B4E111
    • Q6SC72
    • Q7Z5W9
    • Q96A52
    • Q99408
    • Q99860

    Protein attributes for TCOF1 Gene

    Size:
    1488 amino acids
    Molecular mass:
    152106 Da
    Quaternary structure:
    • 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).
    SequenceCaution:
    • Sequence=AAH16144.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 1]: Major.
    • [Isoform 4]: Minor.

    Alternative splice isoforms for TCOF1 Gene

neXtProt entry for TCOF1 Gene

Post-translational modifications for TCOF1 Gene

  • 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).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TCOF1 Gene

Domains & Families for TCOF1 Gene

Gene Families for TCOF1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for TCOF1 Gene

InterPro:
Blocks:
  • Lissencephaly type-1-like homology motif
  • Treacher Collins syndrome protein Treacle signature
ProtoNet:

Suggested Antigen Peptide Sequences for TCOF1 Gene

GenScript: Design optimal peptide antigens:
  • Treacher Collins syndrome protein (TCOF_HUMAN)
genes like me logo Genes that share domains with TCOF1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TCOF1 Gene

Function for TCOF1 Gene

Molecular function for TCOF1 Gene

UniProtKB/Swiss-Prot 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).

Phenotypes From GWAS Catalog for TCOF1 Gene

Gene Ontology (GO) - Molecular Function for TCOF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001042 RNA polymerase I core binding IBA,IDA 26399832
GO:0003723 RNA binding HDA 22658674
GO:0005215 transporter activity TAS 9096354
GO:0005515 protein binding IPI 17620599
GO:0046982 protein heterodimerization activity IPI 26399832
genes like me logo Genes that share ontologies with TCOF1: view
genes like me logo Genes that share phenotypes with TCOF1: view

Human Phenotype Ontology for TCOF1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TCOF1 Gene

MGI Knock Outs for TCOF1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TCOF1

Clone Products

  • Addgene plasmids for TCOF1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TCOF1 Gene

Localization for TCOF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TCOF1 Gene

Nucleus, nucleolus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TCOF1 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 3
extracellular 3
cytoskeleton 3
mitochondrion 3
endoplasmic reticulum 3
endosome 3
lysosome 3
peroxisome 2
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TCOF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001650 fibrillar center IDA --
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus TAS,IDA 15249688
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with TCOF1: view

Pathways & Interactions for TCOF1 Gene

PathCards logo

SuperPathways for TCOF1 Gene

genes like me logo Genes that share pathways with TCOF1: view

Pathways by source for TCOF1 Gene

1 KEGG pathway for TCOF1 Gene

Gene Ontology (GO) - Biological Process for TCOF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development TAS 9096354
GO:0006417 regulation of translation IMP 26399832
GO:0014029 neural crest formation IMP 26399832
GO:0014032 neural crest cell development IMP 26399832
GO:0042790 nucleolar large rRNA transcription by RNA polymerase I IBA 21873635
genes like me logo Genes that share ontologies with TCOF1: view

No data available for SIGNOR curated interactions for TCOF1 Gene

Drugs & Compounds for TCOF1 Gene

(1) Drugs for TCOF1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for TCOF1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TCOF1: view

Transcripts for TCOF1 Gene

mRNA/cDNA for TCOF1 Gene

8 REFSEQ mRNAs :
23 NCBI additional mRNA sequence :
20 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TCOF1

Clone Products

  • Addgene plasmids for TCOF1

Alternative Splicing Database (ASD) splice patterns (SP) for TCOF1 Gene

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:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:

ExUns: 16 ^ 17 ^ 18a · 18b ^ 19a · 19b · 19c ^ 20 ^ 21a · 21b ^ 22a · 22b · 22c ^ 23
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10: -
SP11: -
SP12:
SP13:
SP14:
SP15:

Relevant External Links for TCOF1 Gene

GeneLoc Exon Structure for
TCOF1

Expression for TCOF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TCOF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TCOF1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (24.5), CD8 Tcells (10.8), and Lymph node (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TCOF1 Gene



Protein tissue co-expression partners for TCOF1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TCOF1

SOURCE GeneReport for Unigene cluster for TCOF1 Gene:

Hs.519672

Evidence on tissue expression from TISSUES for TCOF1 Gene

  • Skin(4.8)
  • Eye(4.6)
  • Liver(4.6)
  • Nervous system(4.4)
  • Lung(3.8)
  • Blood(3.4)
  • Intestine(3.4)
  • Kidney(3.2)
  • Heart(3.2)
  • Muscle(3.1)
  • Spleen(3)
  • Lymph node(2.8)
  • Pancreas(2.7)
  • Bone marrow(2.7)
  • Bone(2.6)
  • Stomach(2.6)
  • Thyroid gland(2.6)
  • Adrenal gland(2.5)
  • Urine(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TCOF1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • inner ear
  • jaw
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • scalp
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with TCOF1: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TCOF1 Gene

Orthologs for TCOF1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TCOF1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TCOF1 30 31
  • 97.67 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TCOF1 30 31
  • 73.98 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TCOF1 30 31
  • 71.95 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tcof1 30
  • 69.02 (n)
Mouse
(Mus musculus)
Mammalia Tcof1 30 17 31
  • 67.85 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TCOF1 31
  • 31 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TCOF1 31
  • 27 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TCOF1 31
  • 28 (a)
OneToOne
Species where no ortholog for TCOF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for TCOF1 Gene

ENSEMBL:
Gene Tree for TCOF1 (if available)
TreeFam:
Gene Tree for TCOF1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TCOF1: view image

Paralogs for TCOF1 Gene

(1) SIMAP similar genes for TCOF1 Gene using alignment to 7 proteins:

  • TCOF_HUMAN
  • E7ETY2_HUMAN
  • E9PHK9_HUMAN
  • H0Y8Y7_HUMAN
  • H0YA99_HUMAN
  • H0YAB7_HUMAN
  • J3KQ96_HUMAN
genes like me logo Genes that share paralogs with TCOF1: view

No data available for Paralogs for TCOF1 Gene

Variants for TCOF1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TCOF1 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
639625 Likely Pathogenic: Treacher Collins syndrome 1 150,367,918(+) G/A SPLICE_DONOR_VARIANT
644290 Uncertain Significance: Treacher Collins syndrome 1 150,364,135(+) C/T MISSENSE_VARIANT
644583 Pathogenic: Treacher Collins syndrome 1 150,378,916(+) AG/A NONSENSE
645291 Pathogenic: Treacher Collins syndrome 1 150,375,409(+) G/GC FRAMESHIFT_VARIANT
647280 Uncertain Significance: Treacher Collins syndrome 1 150,388,058(+) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for TCOF1 Gene

Structural Variations from Database of Genomic Variants (DGV) for TCOF1 Gene

Variant ID Type Subtype PubMed ID
esv1309088 CNV deletion 17803354
esv2114978 CNV deletion 18987734
esv2649922 CNV deletion 19546169
esv2672361 CNV deletion 23128226
esv2730915 CNV deletion 23290073
esv3289939 CNV deletion 24192839
esv3566810 CNV deletion 23714750
esv5186 CNV loss 18987735
esv6012 CNV loss 19470904
esv989812 CNV deletion 20482838
nsv1022057 CNV gain 25217958
nsv1074878 CNV deletion 25765185
nsv1123996 CNV deletion 24896259
nsv1150377 CNV deletion 26484159

Variation tolerance for TCOF1 Gene

Residual Variation Intolerance Score: 95.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.76; 91.61% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TCOF1 Gene

Human Gene Mutation Database (HGMD)
TCOF1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TCOF1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TCOF1 Gene

Disorders for TCOF1 Gene

MalaCards: The human disease database

(35) MalaCards diseases for TCOF1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
treacher collins syndrome 1
  • tcs1
crouzon syndrome
  • craniofacial dysostosis, type i; cfd1
microtia
abruzzo-erickson syndrome
  • abers
cleft palate, isolated
  • cpi
- elite association - COSMIC cancer census association via MalaCards
Search TCOF1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TCOF_HUMAN
  • Treacher Collins syndrome 1 (TCS1) [MIM:154500]: 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. {ECO:0000269 PubMed:9042910}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for TCOF1 Gene

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

Additional Disease Information for TCOF1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with TCOF1: view

Publications for TCOF1 Gene

  1. Excess maternal transmission of markers in TCOF1 among cleft palate case-parent trios from three populations. (PMID: 18688869) Sull JW … Beaty TH (American journal of medical genetics. Part A 2008) 3 23 41
  2. Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation. (PMID: 15340364) Teber OA … Wieczorek D (European journal of human genetics : EJHG 2004) 3 23 41
  3. Proteomic analysis of human Nop56p-associated pre-ribosomal ribonucleoprotein complexes. Possible link between Nop56p and the nucleolar protein treacle responsible for Treacher Collins syndrome. (PMID: 12777385) Hayano T … Takahashi N (The Journal of biological chemistry 2003) 3 4 23
  4. Identification of the complete coding sequence and genomic organization of the Treacher Collins syndrome gene. (PMID: 9074926) Dixon J … Dixon MJ (Genome research 1997) 3 4 23
  5. TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region. (PMID: 9096354) Wise CA … Jabs EW (Proceedings of the National Academy of Sciences of the United States of America 1997) 3 4 23

Products for TCOF1 Gene

  • Signalway Proteins for TCOF1

Sources for TCOF1 Gene