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FLASH GENE

Symbol

TCOF1

contributors: mct - updated : 05-01-2015

HGNC name	Treacher Collins-Franceschetti syndrome 1
HGNC id	11654

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	TCS Treacher Collins-Franceschetti syndrome
Location	5q32      Physical location : 149.737.201 - 149.779.870
Synonym name	treacle protein
	nucleolar protein 144kDa, homolog with phosphonuclear protein
	nucleolar trafficking phosphoprotein
Synonym symbol(s)	MFD1, TREACLE, ECOF, TCS1

DNA

TYPE	functioning gene
STRUCTURE	42.67 kb     26 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	Binding site   transcription factor
motif	repetitive sequence   other
text structure	four new single nucleotide polymorphisms (SNPs), one of which (-346C>T), was proved to be functional, as it decreased the promoter activity by 38p100 (-346T allele impairs DNA-binding to the YY1 transcription factor)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000356 26 - 4882 NP_000347 144.2 1411 - 2012 22317976 also called VIa, variant 2/isoform b NM_001135245 26 - 4885 NP_001128717 144.3 1412 - 2012 22317976 also called VIa or variant 6/isoform f NM_001008657 18 - 3877 NP_001008657 96.63 958 - 2012 22317976 also called variant 3/isoform c NM_001135243 27 - 5113 NP_001128715 153 1488 - 2012 22317976 also called variant 4/isoform d exon 6A but not 16A containing basic and acidic domains similar to 10 other exons a nuclear localization signal (NLS) which does not, however, alter the nucleolar localization NM_001135244 26 - 5002 NP_001128716 148.2 1451 - 2012 22317976 also called XIX or variant 5/isoform e NM_001195141 26 - 4999 NP_001182070 148 1450 - 2012 22317976 also called variant 7/isoform g

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine small intestine       Reproductive female system ovary         female system breast mammary gland     Respiratory lung         Skin/Tegument skin

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo, fetal, pregnancy

Text	several tissues with a peak expression in the branchial arches, stem cells

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a N-terminus, with a LIS1 homolog motif and repeating units of acidic and basic residues each containing a large number of putative casein kinase 2 and protein kinase C phosphorylation sites
	11 repetitive motifs coded by exon 6A-16 subject to phosphorylation by casein-kinase 2
	a three-domain structure with nucleolar localization signals in the C-terminus

conjugated

PhosphoP

HOMOLOGY

interspecies

homolog to murine Tcof1

intraspecies

homolog to phosphonuclear protein,NOLC1

Homologene

FAMILY

CATEGORY

regulatory , structural protein , transport

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus,chromatin/chromosome
	intracellular,nucleus,nucleolus
text	colocalizing with UBTF in the condensed chromosome of mitotic cells

basic FUNCTION	putatively involved in early embryonic development, also in nuclear cytoplasmic shuttle
	playing a role in craniofacial morphogenesis
	involved in ribosomal DNA gene transcription by interacting with upstream binding factor(UBTF)and in involved in pre-rRNA methylation
	required cell-autonomously for the formation and proliferation of neural crest cells and regulating
	proliferation by controlling the production of mature ribosomes
	unique spatiotemporal regulator of ribosome biogenesis
	TCOF1 and PLK1 are critically required for proper cortical neurogenesis, which has important implications in the regulation of mammalian brain size and the pathogenesis of congenital
	acts as a modifier of PAX3 during enteric nervous system development and in the pathogenesis of colonic aganglionosis
	TCOF1-mediated NBN recruitment into the nucleoli regulates rRNA silencing in trans in the presence of distant chromosome breaks
	is a DDR factor that could cooperate with ATM and NBN to suppress inappropriate rDNA transcription and maintain genomic integrity after DNA damage

CELLULAR PROCESS

cell organization/biogenesis

PHYSIOLOGICAL PROCESS

development , cellular trafficking transport

text	nuclear-cytoplasmic transport

PATHWAY

metabolism

signaling

sensory transduction/vision

a component

INTERACTION

DNA

RNA

small molecule

protein	interacting with UBTF( affecting transcription of the ribosomal DNA gene)
	TCOF1 associates with upstream binding factor (UBTF) to regulate rRNA gene (rDNA) transcription
	TCOF1 and PLK1 are novel regulators of spindle fidelity, mitotic progression, and proliferation in the maintenance and localization of neural progenitor cells
	interaction between the DDR factor NBN and TCOF1, a nucleolar protein that regulates ribosomal DNA (rDNA) transcription

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

TCS

Susceptibility

to isolated cleft palate with maternal transmission

Variant & Polymorphism SNP	increasing the risk of isolated cleft palate with maternal transmission

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS