TCOF1

Protein identityUniProt · HPA

UniProt accession

Q13428

Gene

TCOF1

Ensembl

ENSG00000070814

Chromosome

5

Canonical length

1488 aa

Protein class

Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins

Subcellular location

Nucleoli fibrillar center

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

1488 residues, UniProt reviewed canonical sequence.

>Q13428|TCOF1
     1  MAEARKRREL LPLIYHHLLR AGYVRAAREV KEQSGQKCFL AQPVTLLDIY THWQQTSELG
    61  RKRKAEEDAA LQAKKTRVSD PISTSESSEE EEEAEAETAK ATPRLASTNS SVLGADLPSS
   121  MKEKAKAETE KAGKTGNSMP HPATGKTVAN LLSGKSPRKS AEPSANTTLV SETEEEGSVP
   181  AFGAAAKPGM VSAGQADSSS EDTSSSSDET DVEGKPSVKP AQVKASSVST KESPARKAAP
   241  APGKVGDVTP QVKGGALPPA KRAKKPEEES ESSEEGSESE EEAPAGTRSQ VKASEKILQV
   301  RAASAPAKGT PGKGATPAPP GKAGAVASQT KAGKPEEDSE SSSEESSDSE EETPAAKALL
   361  QAKASGKTSQ VGAASAPAKE SPRKGAAPAP PGKTGPAVAK AQAGKREEDS QSSSEESDSE
   421  EEAPAQAKPS GKAPQVRAAS APAKESPRKG AAPAPPRKTG PAAAQVQVGK QEEDSRSSSE
   481  ESDSDREALA AMNAAQVKPL GKSPQVKPAS TMGMGPLGKG AGPVPPGKVG PATPSAQVGK
   541  WEEDSESSSE ESSDSSDGEV PTAVAPAQEK SLGNILQAKP TSSPAKGPPQ KAGPVAVQVK
   601  AEKPMDNSES SEESSDSADS EEAPAAMTAA QAKPALKIPQ TKACPKKTNT TASAKVAPVR
   661  VGTQAPRKAG TATSPAGSSP AVAGGTQRPA EDSSSSEESD SEEEKTGLAV TVGQAKSVGK
   721  GLQVKAASVP VKGSLGQGTA PVLPGKTGPT VTQVKAEKQE DSESSEEESD SEEAAASPAQ
   781  VKTSVKKTQA KANPAAARAP SAKGTISAPG KVVTAAAQAK QRSPSKVKPP VRNPQNSTVL
   841  ARGPASVPSV GKAVATAAQA QTGPEEDSGS SEEESDSEEE AETLAQVKPS GKTHQIRAAL
   901  APAKESPRKG AAPTPPGKTG PSAAQAGKQD DSGSSSEESD SDGEAPAAVT SAQVIKPPLI
   961  FVDPNRSPAG PAATPAQAQA ASTPRKARAS ESTARSSSSE SEDEDVIPAT QCLTPGIRTN
  1021  VVTMPTAHPR IAPKASMAGA SSSKESSRIS DGKKQEGPAT QVSKKNPASL PLTQAALKVL
  1081  AQKASEAQPP VARTQPSSGV DSAVGTLPAT SPQSTSVQAK GTNKLRKPKL PEVQQATKAP
  1141  ESSDDSEDSS DSSSGSEEDG EGPQGAKSAH TLGPTPSRTE TLVEETAAES SEDDVVAPSQ
  1201  SLLSGYMTPG LTPANSQASK ATPKLDSSPS VSSTLAAKDD PDGKQEAKPQ QAAGMLSPKT
  1261  GGKEAASGTT PQKSRKPKKG AGNPQASTLA LQSNITQCLL GQPWPLNEAQ VQASVVKVLT
  1321  ELLEQERKKV VDTTKESSRK GWESRKRKLS GDQPAARTPR SKKKKKLGAG EGGEASVSPE
  1381  KTSTTSKGKA KRDKASGDVK EKKGKGSLGS QGAKDEPEEE LQKGMGTVEG GDQSNPKSKK
  1441  EKKKSDKRKK DKEKKEKKKK AKKASTKDSE SPSQKKKKKK KKTAEQTV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TCOF1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.68

Highest tissue expression

35 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TCOF1.

Disease | AllUniProt

Conditions TCOF1 is implicated in, by any mechanism.

• Treacher Collins syndrome 1 (TCS1) MIM:154500

Disease | GeneticClinVar

233 pathogenic / likely-pathogenic of 1,168 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Treacher Collins syndrome 1
• TCOF1-related disorder
• Treacher Collins syndrome
• See cases
• Inborn genetic diseases

Disease | ImmuneIEDB

Conditions an epitope on TCOF1 was assayed in.

• narcolepsy B cell
• multiple sclerosis B cell
• peripheral nervous system disease B cell

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.31

gnomAD pLI

0.95

gnomAD missense Z

0.34

DepMap mean gene effect

-0.6

DepMap dependency class

common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• neural crest cell development
• neural crest formation
• nucleolar large rRNA transcription by RNA polymerase I
• regulation of translation
• skeletal system development

Molecular functions

• protein heterodimerization activity
• protein-macromolecule adaptor activity
• RNA binding
• scaffold protein binding

Cellular components

• cytosol
• fibrillar center
• nucleolus
• nucleoplasm

Protein domainsUniProt · Pfam · InterPro

• LIS1 homology motif
• Treacle protein domain
• Treacle protein
• Treacher Collins syndrome protein Treacle

KeywordsUniProt

• Acetylation
• Isopeptide bond
• Nucleus
• Phosphoprotein
• Ubl conjugation

InteractionsUniProt · HPA

Protein binding partners of TCOF1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• NOP56
• ARRB1
• ARRB2
• SRPK2