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biopax3:comment |
FUNCTION: May be involved in nucleolar-cytoplasmic transport. May play a fundamental role in early embryonic development, particularly in development of the craniofacial complex (By similarity). May participate in certain stages of ribosome biogenesis. SUBUNIT: Part of a large pre-ribosomal ribonucleoprotein (RNP) complex, that consists of at least 62 ribosomal proteins, 45 nonribosomal proteins and both pre-rRNA and mature rRNA species. Within this complex directly interacts with NOP56 in an RNA- independent manner. SUBCELLULAR LOCATION: Nucleus, nucleolus. ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=8; Name=1; IsoId=Q13428-1; Sequence=Displayed; Note=Major; Name=2; IsoId=Q13428-2; Sequence=VSP_022295; Name=3; IsoId=Q13428-3; Sequence=VSP_022297; Name=4; IsoId=Q13428-4; Sequence=VSP_022296; Note=Minor; Name=5; IsoId=Q13428-5; Sequence=VSP_023133, VSP_023134; Note=No experimental confirmation available; Name=6; IsoId=Q13428-6; Sequence=VSP_040382; Name=7; IsoId=Q13428-7; Sequence=VSP_040382, VSP_022297; Name=8; IsoId=Q13428-8; Sequence=VSP_022295, VSP_022297; Note=No experimental confirmation available; PTM: Phosphorylated upon DNA damage, probably by ATM or ATR. DISEASE: Defects in TCOF1 are the cause of Treacher Collins syndrome type 1 (TCS1) [MIM:154500]. It is a form of Treacher Collins syndrome, a disorder of craniofacial development. Treacher Collins syndrome is characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss. SIMILARITY: Contains 1 LisH domain. SEQUENCE CAUTION: Sequence=AAH16144.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TCOF1"; GENE SYNONYMS:TCOF1. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.,
SEQUENCE 1488 AA; 152106 MW; 6348306D0479790B CRC64;
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