treacle protein; treacher collins syndrome protein (TCOF1)

Function: - may be involved in nucleolar-cytoplasmic transport - may play a fundamental role in early embryonic development, particularly in development of the craniofacial complex - phosphorylated upon DNA damage, probably by ATM or ATR Structure: contains 1 LisH domain Compartment: nucleus, nucleolus (putative) Alternative splicing: named isoforms=5; major, minor Pathology: - defects in TCOF1 are the cause of Treacher-Collins syndrome

Related

TCOF1 gene mutation Treacher-Collins-Franceschetti syndrome

General

nuclear protein phosphoprotein

Properties

SIZE: entity length = 1488 aa MW = 152 kD COMPARTMENT: cell nucleus MOTIF: LisH {6-38} Ser phosphorylation site {S83} Thr phosphorylation site {T84} Ser phosphorylation site {S85} Ser phosphorylation site {S87} Ser phosphorylation site {S88} glutamate-rich region {89-97} MOTIF: glutamate residue (SEVERAL) Ser phosphorylation site {S138} Thr phosphorylation site {T144} Ser phosphorylation site {S153} Ser phosphorylation site {S156} Ser phosphorylation site {S160} Ser phosphorylation site {S164} Thr phosphorylation site {T168} Ser phosphorylation site {S171} Thr phosphorylation site {T173} serine-rich region {204-207} MOTIF: serine residue (SEVERAL) Ser phosphorylation site {S233} Thr phosphorylation site {T249} Ser phosphorylation site {S304} Thr phosphorylation site {T310} Thr phosphorylation site {T316} Ser phosphorylation site {S339} Ser phosphorylation site {S342} Ser phosphorylation site {S343} Ser phosphorylation site {S347} Ser phosphorylation site {S349} Ser phosphorylation site {S375} Ser phosphorylation site {S381} Thr phosphorylation site {T394} Ser phosphorylation site {S413} Ser phosphorylation site {S414} Ser phosphorylation site {S417} Ser phosphorylation site {S419} Ser phosphorylation site {S430} Ser phosphorylation site {S446} Ser phosphorylation site {S475} Ser phosphorylation site {S477} Ser phosphorylation site {S478} Ser phosphorylation site {S479} Ser phosphorylation site {S482} Ser phosphorylation site {S484} Ser phosphorylation site {S503} Thr phosphorylation site {T533} Ser phosphorylation site {S545} Ser phosphorylation site {S547} Ser phosphorylation site {S548} Ser phosphorylation site {S549} Thr phosphorylation site {T581} Ser phosphorylation site {S582} Ser phosphorylation site {S583} Ser phosphorylation site {S608} Ser phosphorylation site {S610} Ser phosphorylation site {S611} Ser phosphorylation site {S614} Ser phosphorylation site {S615} Ser phosphorylation site {S617} Ser phosphorylation site {S620} Ser phosphorylation site {S679} Thr phosphorylation site {T686} serine-rich region {693-696} MOTIF: serine residue (SEVERAL) Ser phosphorylation site {S693} Ser phosphorylation site {S694} Ser phosphorylation site {S695} Ser phosphorylation site {S762} Ser phosphorylation site {S764} Ser phosphorylation site {S765} Ser phosphorylation site {S769} Ser phosphorylation site {S771} Ser phosphorylation site {S777} Ser phosphorylation site {S784} Ser phosphorylation site {S801} Thr phosphorylation site {T805} Ser phosphorylation site {S868} Ser phosphorylation site {S870} Ser phosphorylation site {S871} Ser phosphorylation site {S875} Ser phosphorylation site {S877} Ser phosphorylation site {S906} Thr phosphorylation site {T914} Ser phosphorylation site {S932} Ser phosphorylation site {S934} Ser phosphorylation site {S935} Ser phosphorylation site {S936} Ser phosphorylation site {S939} Ser phosphorylation site {S941} Ser phosphorylation site {S967} Thr phosphorylation site {T983} serine-rich region {996-1001} MOTIF: serine residue (SEVERAL) Ser phosphorylation site {S996} Ser phosphorylation site {S997} Ser phosphorylation site {S998} Ser phosphorylation site {S999} Ser phosphorylation site {S1001} Ser phosphorylation site {S1111} Ser phosphorylation site {S1149} Ser phosphorylation site {S1150} Ser phosphorylation site {S1153} Ser phosphorylation site {S1154} Ser phosphorylation site {S1190} Ser phosphorylation site {S1191} Thr phosphorylation site {T1222} Ser phosphorylation site {S1227} Ser phosphorylation site {S1228} Ser phosphorylation site {S1230} Thr phosphorylation site {T1234} Ser phosphorylation site {S1257} Ser phosphorylation site {S1350} Thr phosphorylation site {T1358} Ser phosphorylation site {S1361} lysine-rich region {1362-1366} MOTIF: lysine residue (SEVERAL) Ser phosphorylation site {S1376} Ser phosphorylation site {S1378} Ser phosphorylation site {S1407} Ser phosphorylation site {S1410} lysine-rich region {1452-1463} MOTIF: lysine residue (SEVERAL) Ser phosphorylation site {S1471} lysine-rich region {1475-1482} MOTIF: lysine residue (SEVERAL)

Database Correlations

OMIM correlations MORBIDMAP 606847 UniProt Q13428 Pfam PF03546 Entrez Gene 6949 Kegg hsa:6949