CleftGeneDB-Search

Gene: Tcof1

Basic information

Tag	Content
Uniprot ID	O08784; O08857;
Entrez ID	21453
Genbank protein ID	AAB60933.1; AAH60105.1; AAB71347.1;
Genbank nucleotide ID	NM_011552.3
Ensembl protein ID	ENSMUSP00000135476
Ensembl nucleotide ID	ENSMUSG00000024613
Gene name	Treacle protein
Gene symbol	Tcof1
Organism	Mus musculus
NCBI taxa ID	10090
Cleft type	CPO
Developmental stage
Data sources	Manually collected
Reference	10888597; 16938878;
Functional description	Nucleolar protein that acts as a regulator of RNA polymerase I by connecting RNA polymerase I with enzymes responsible for ribosomal processing and modification. 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.
Sequence	MAEARKRREL LPLIYHHLLQ AGYVRAAREV KEQSGQKSFL TQPVTLLDIY THWQQTSELG 60 QKQKAEDDET LQAKKSRVSD PVSSSESSDQ EKEEEAATER AKATPRPTPV NSATAALPSK 120 VKEKGKTKTA NKTVNSVSHP GSGKTVVHLL SGKSPKKSAE PLANTVLASE TEEEGNAQAL 180 GPTAKSGTVS AGQGSSSSED SSISSDETDV EVKSPAKPAQ AKASAAPAKD PPARTAPGPT 240 KLGNVAPTPA KPARAAAAAA AAAVAAAAAA AAEESESSEE DSDSEDEAPA GLPSQVKASG 300 KGPHVRADSV SAKGISGKGP ILATPGKTGP AATQAKAERP EKDSETSSED DSDSEDEMPV 360 TVNTPQARTS GKSPRARGTS APAKESSQKG APAVTPGKAR PVAAQAGKPE AKSSEESESD 420 SGETPAAATL TTSPAKVKPL GKSSQVRPVS TVTPGSSGKG ANLPCPGKVG SAALRVQMVK 480 KEDVSESSSA ELDSDGPGSP AKAKASLALP QKVRPVATQV KTDRGKGHSG SSEESSDSEE 540 EAAPAASAAQ AKPALEKQMK ASSRKGTPAS ATGASTSSHC KAGAVTSSAS LSSPALAKGT 600 QRSDVDSSSE SESEGAAPST PRVQGKSGGK GLQGKAALGQ GVAPVHTQKT GPSVKAMAQE 660 DSESLEEDSS SEEEDETPAQ ATPLGRLPQA KANPPPTKTP PASASGKAVA APTKGKPPVP 720 NSTVSARGQR SVPAAGKAGA PATQAQKGPV AGTGEDSESS SKEESDSEEE TPAQIKPVGK 780 TSQVRAASAP AKESPKKGAH PGTPGKTGSS ATQAQPGKTE DSDSSSEESD SDTEMPSAQA 840 IKSPPVSVNR NSSPAVPAPT PEGVQAVNTT KKASGTTAQS SSSESEDGDE DLIPATQPST 900 YALRTSVTTP AALSRAASQP SKSEQSSRMP KGKKAKAAAS AQTSSAVETL PMMPPQSAPI 960 QPKATNKLGK SKLPEKQQLA PGYPKAPRSS EDSSDTSSED EEDAKRPQMP KSAHRLDPDP 1020 SQKETVVEET PTESSEDEMV APSQSLLSGY MTPGLTVANS QASKATPRPD SNSLASSAPA 1080 TKDNPDGKQK SKSQHAADTA LPKTGRKEAS SGSTPQKPKK LKKSTSSSPA PTQTLPNSIT 1140 QRLLEQAWPL SEAQVQASVV KVLTELLEQE RLKATEAIKE SGKKSQKRKL SGDLEAGAPK 1200 NKKKKEQPVP RASAVSPEKA PMTSKAKSKL DKGSAGGKGK GSPGPQGAKE KPDGELLGIK 1260 LESGEQSDPK SKSKKKKSLK KKKDKEKKEK KKGKKSLAKD SASPIQKKKK KKKKSAEPAV 1320

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

There is no orthologous record for this gene !

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs222030670	p.Glu66Gln	missense variant	-	NC_000084.6:g.60843340C>G	UniProt
rs36407673	p.Leu71Pro	missense variant	-	NC_000084.6:g.60843324A>G	UniProt
rs36821348	p.Asp89Glu	missense variant	-	NC_000084.6:g.60843269A>C	UniProt
rs252247483	p.Lys92Glu	missense variant	-	NC_000084.6:g.60843262T>C	UniProt
rs37533881	p.Ala101Thr	missense variant	-	NC_000084.6:g.60843235C>T	UniProt
rs257884476	p.Val110Ile	missense variant	-	NC_000084.6:g.60839616C>T	UniProt
rs36447384	p.Thr129Lys	missense variant	-	NC_000084.6:g.60838848G>T	UniProt
rs38830754	p.Ala298Val	missense variant	-	NC_000084.6:g.60833625G>A	UniProt
rs239464670	p.Asp308Ala	missense variant	-	NC_000084.6:g.60833595T>G	UniProt
rs216055553	p.Arg375Trp	missense variant	-	NC_000084.6:g.60832906G>A	UniProt
rs259689401	p.Ala383Thr	missense variant	-	NC_000084.6:g.60832882C>T	UniProt
rs235235319	p.Pro409Ser	missense variant	-	NC_000084.6:g.60832804G>A	UniProt
rs261733495	p.Ala427Thr	missense variant	-	NC_000084.6:g.60832750C>T	UniProt
rs254654506	p.Ala428Ser	missense variant	-	NC_000084.6:g.60832747C>A	UniProt
rs247310801	p.Arg475Lys	missense variant	-	NC_000084.6:g.60832509C>T	UniProt
rs240824843	p.Val484Ala	missense variant	-	NC_000084.6:g.60832482A>G	UniProt
rs30130774	p.Ser488Cys	missense variant	-	NC_000084.6:g.60832471T>A	UniProt
rs30022269	p.Ala490Glu	missense variant	-	NC_000084.6:g.60832464G>T	UniProt
rs216091464	p.Gly496Glu	missense variant	-	NC_000084.6:g.60832446C>T	UniProt
rs263826855	p.Gly498Val	missense variant	-	NC_000084.6:g.60832440C>A	UniProt
rs240640680	p.Lys502Arg	missense variant	-	NC_000084.6:g.60832428T>C	UniProt
rs581410120	p.Leu507Pro	missense variant	-	NC_000084.6:g.60832296A>G	UniProt
rs30310488	p.Arg514Gly	missense variant	-	NC_000084.6:g.60832276T>C	UniProt
rs263475461	p.Gly527Asp	missense variant	-	NC_000084.6:g.60832236C>T	UniProt
rs233768746	p.Ser536Pro	missense variant	-	NC_000084.6:g.60832210A>G	UniProt
rs30165718	p.Thr572Ala	missense variant	-	NC_000084.6:g.60831932T>C	UniProt
rs221477299	p.Ala584Val	missense variant	-	NC_000084.6:g.60831895G>A	UniProt
rs260440664	p.Ala597Pro	missense variant	-	NC_000084.6:g.60831857C>G	UniProt
rs212169087	p.Ala616Thr	missense variant	-	NC_000084.6:g.60831800C>T	UniProt
rs261305395	p.Val642Met	missense variant	-	NC_000084.6:g.60831629C>T	UniProt
rs236570176	p.Ser671Ile	missense variant	-	NC_000084.6:g.60831541C>A	UniProt
rs215234618	p.Val732Met	missense variant	-	NC_000084.6:g.60828784C>T	UniProt
rs258512280	p.Ala735Ser	missense variant	-	NC_000084.6:g.60828775C>A	UniProt
rs233289749	p.Ala735Val	missense variant	-	NC_000084.6:g.60828774G>A	UniProt
rs266175077	p.Ala740Thr	missense variant	-	NC_000084.6:g.60828760C>T	UniProt
rs249378117	p.Ala751Thr	missense variant	-	NC_000084.6:g.60828727C>T	UniProt
rs224692129	p.Thr753Ala	missense variant	-	NC_000084.6:g.60828721T>C	UniProt
rs255869653	p.Pro804Ser	missense variant	-	NC_000084.6:g.60828472G>A	UniProt
rs219816355	p.Pro816Thr	missense variant	-	NC_000084.6:g.60828436G>T	UniProt
rs219816355	p.Pro816Ser	missense variant	-	NC_000084.6:g.60828436G>A	UniProt
rs1134408304	p.Ser824Asn	missense variant	-	NC_000084.6:g.60828411C>T	UniProt
rs29877421	p.Ser853Gly	missense variant	-	NC_000084.6:g.60822951T>C	UniProt
rs231093193	p.Gly863Glu	missense variant	-	NC_000084.6:g.60822920C>T	UniProt
rs254121682	p.Asn966Lys	missense variant	-	NC_000084.6:g.60819539G>C	UniProt
rs232021086	p.Arg988Gly	missense variant	-	NC_000084.6:g.60819475T>C	UniProt
rs230341762	p.Pro1018Gln	missense variant	-	NC_000084.6:g.60818941G>T	UniProt
rs215054890	p.Gly1054Asp	missense variant	-	NC_000084.6:g.60818182C>T	UniProt
rs252382186	p.Ser1073Pro	missense variant	-	NC_000084.6:g.60818126A>G	UniProt
rs51688164	p.Ala1096Ser	missense variant	-	NC_000084.6:g.60818057C>A	UniProt
rs29820207	p.Leu1121Pro	missense variant	-	NC_000084.6:g.60816480A>G	UniProt
rs260205422	p.Ser1124Ile	missense variant	-	NC_000084.6:g.60816471C>A	UniProt
rs252696115	p.Pro1199Ser	missense variant	-	NC_000084.6:g.60816247G>A	UniProt
rs222691383	p.Lys1202Asn	missense variant	-	NC_000084.6:g.60816236C>A	UniProt
rs30174877	p.Val1209Ala	missense variant	-	NC_000084.6:g.60816216A>G	UniProt
rs37589142	p.Ala1226Thr	missense variant	-	NC_000084.6:g.60816166C>T	UniProt
rs228420544	p.Ala1316Val	missense variant	-	NC_000084.6:g.60814558G>A	UniProt

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0001042	RNA polymerase I core binding	ISS
GO:0001042	RNA polymerase I core binding	ISO
GO:0001042	RNA polymerase I core binding	IBA
GO:0046982	protein heterodimerization activity	ISO
GO:0097110	scaffold protein binding	ISO
GO:0097110	scaffold protein binding	IBA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0006417	regulation of translation	ISS
GO:0006417	regulation of translation	ISO
GO:0014029	neural crest formation	ISS
GO:0014029	neural crest formation	ISO
GO:0014032	neural crest cell development	ISS
GO:0014032	neural crest cell development	ISO
GO:0042790	nucleolar large rRNA transcription by RNA polymerase I	IMP
GO:0042790	nucleolar large rRNA transcription by RNA polymerase I	IBA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0001650	fibrillar center	ISO
GO:0005654	nucleoplasm	ISO
GO:0005730	nucleolus	ISO
GO:0005730	nucleolus	IBA
GO:0005829	cytosol	ISO

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0007	Acetylation
KW-1017	Isopeptide bond
KW-0539	Nucleus
KW-0597	Phosphoprotein
KW-1185	Reference proteome
KW-0677	Repeat
KW-0832	Ubl conjugation

Interpro

InterPro ID	InterPro Term
IPR006594	LisH
IPR017859	Treacle
IPR003993	Treacle_dom

PROSITE

PROSITE ID	PROSITE Term
PS50896	LISH

Pfam

Pfam ID	Pfam Term
PF03546	Treacle

Gene: Tcof1

Basic information

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

There is no orthologous record for this gene !

Other genetic variants/mutations

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction