• Gene id: 6949

Gene Summary

• Gene Symbol: TCOF1   Gene   UCSC   Ensembl
• Aliases: MFD1, TCS, TCS1, treacle
• Gene name: treacle ribosome biogenesis factor 1
• Alternate names: treacle protein, Treacher Collins syndrome protein, Treacher Collins-Franceschetti syndrome 1, nucleolar trafficking phosphoprotein,
• Gene location: 5q32-q33.1 (150357638: 150400307)     Exons: 29     NC_000005.10
• Gene summary(Entrez): 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 sy
• OMIM: 617750

Protein Summary

• Protein general information: Q13428  
  • Name: Treacle protein (Treacher Collins syndrome protein)
  • Length: 1488  
  • Mass: 152106
• Sequence:

  MAEARKRRELLPLIYHHLLRAGYVRAAREVKEQSGQKCFLAQPVTLLDIYTHWQQTSELGRKRKAEEDAALQAKK
  TRVSDPISTSESSEEEEEAEAETAKATPRLASTNSSVLGADLPSSMKEKAKAETEKAGKTGNSMPHPATGKTVAN
  LLSGKSPRKSAEPSANTTLVSETEEEGSVPAFGAAAKPGMVSAGQADSSSEDTSSSSDETDVEGKPSVKPAQVKA
  SSVSTKESPARKAAPAPGKVGDVTPQVKGGALPPAKRAKKPEEESESSEEGSESEEEAPAGTRSQVKASEKILQV
  RAASAPAKGTPGKGATPAPPGKAGAVASQTKAGKPEEDSESSSEESSDSEEETPAAKALLQAKASGKTSQVGAAS
  APAKESPRKGAAPAPPGKTGPAVAKAQAGKREEDSQSSSEESDSEEEAPAQAKPSGKAPQVRAASAPAKESPRKG
  AAPAPPRKTGPAAAQVQVGKQEEDSRSSSEESDSDREALAAMNAAQVKPLGKSPQVKPASTMGMGPLGKGAGPVP
  PGKVGPATPSAQVGKWEEDSESSSEESSDSSDGEVPTAVAPAQEKSLGNILQAKPTSSPAKGPPQKAGPVAVQVK
  AEKPMDNSESSEESSDSADSEEAPAAMTAAQAKPALKIPQTKACPKKTNTTASAKVAPVRVGTQAPRKAGTATSP
  AGSSPAVAGGTQRPAEDSSSSEESDSEEEKTGLAVTVGQAKSVGKGLQVKAASVPVKGSLGQGTAPVLPGKTGPT
  VTQVKAEKQEDSESSEEESDSEEAAASPAQVKTSVKKTQAKANPAAARAPSAKGTISAPGKVVTAAAQAKQRSPS
  KVKPPVRNPQNSTVLARGPASVPSVGKAVATAAQAQTGPEEDSGSSEEESDSEEEAETLAQVKPSGKTHQIRAAL
  APAKESPRKGAAPTPPGKTGPSAAQAGKQDDSGSSSEESDSDGEAPAAVTSAQVIKPPLIFVDPNRSPAGPAATP
  AQAQAASTPRKARASESTARSSSSESEDEDVIPATQCLTPGIRTNVVTMPTAHPRIAPKASMAGASSSKESSRIS
  DGKKQEGPATQVSKKNPASLPLTQAALKVLAQKASEAQPPVARTQPSSGVDSAVGTLPATSPQSTSVQAKGTNKL
  RKPKLPEVQQATKAPESSDDSEDSSDSSSGSEEDGEGPQGAKSAHTLGPTPSRTETLVEETAAESSEDDVVAPSQ
  SLLSGYMTPGLTPANSQASKATPKLDSSPSVSSTLAAKDDPDGKQEAKPQQAAGMLSPKTGGKEAASGTTPQKSR
  KPKKGAGNPQASTLALQSNITQCLLGQPWPLNEAQVQASVVKVLTELLEQERKKVVDTTKESSRKGWESRKRKLS
  GDQPAARTPRSKKKKKLGAGEGGEASVSPEKTSTTSKGKAKRDKASGDVKEKKGKGSLGSQGAKDEPEEELQKGM
  GTVEGGDQSNPKSKKEKKKSDKRKKDKEKKEKKKKAKKASTKDSESPSQKKKKKKKKTAEQTV

• Structural information:
  • Protein Domains: (6..3-)
    (/note="LisH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00126"-)
  • Interpro: IPR006594  IPR017859  IPR003993  
  • Prosite: PS50896
  • DIP: 32953
  • STRING: ENSP00000367028
• Other Databases: GeneCards:  TCOF1  Malacards:  TCOF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001042	RNA polymerase I core binding	IBA	molecular function
GO:0005730	nucleolus	IBA	cellular component
GO:0042790	nucleolar large rRNA transcription by RNA polymerase I	IBA	biological process
GO:0097110	scaffold protein binding	IBA	molecular function
GO:0001042	RNA polymerase I core binding	IDA	molecular function
GO:0006417	regulation of translation	IMP	biological process
GO:0014032	neural crest cell development	IMP	biological process
GO:0014029	neural crest formation	IMP	biological process
GO:0046982	protein heterodimerization activity	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005215	transporter activity	TAS	molecular function
GO:0001501	skeletal system development	TAS	biological process
GO:0005730	nucleolus	TAS	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005730	nucleolus	IEA	cellular component
GO:0001650	fibrillar center	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0097110	scaffold protein binding	IPI	molecular function
GO:0005730	nucleolus	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0001042	RNA polymerase I core binding	IBA	molecular function
GO:0005730	nucleolus	IBA	cellular component
GO:0042790	nucleolar large rRNA transcription by RNA polymerase I	IBA	biological process
GO:0097110	scaffold protein binding	IBA	molecular function
GO:0001042	RNA polymerase I core binding	IDA	molecular function
GO:0006417	regulation of translation	IMP	biological process
GO:0014032	neural crest cell development	IMP	biological process
GO:0014029	neural crest formation	IMP	biological process
GO:0046982	protein heterodimerization activity	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005215	transporter activity	TAS	molecular function
GO:0001501	skeletal system development	TAS	biological process
GO:0005730	nucleolus	TAS	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005730	nucleolus	IEA	cellular component
GO:0001650	fibrillar center	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0097110	scaffold protein binding	IPI	molecular function
GO:0005730	nucleolus	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa03008	Ribosome biogenesis in eukaryotes

Diseases

Associated diseases	References
Treacher Collins syndrome	KEGG:H00610
Treacher Collins syndrome	KEGG:H00610
Treacher Collins syndrome	PMID:9096354
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881