Gene Symbol |
TCOF1
|
Entrez Gene |
6949
|
Alt Symbol |
MFD1, TCS, TCS1, treacle
|
Species |
Human
|
Gene Type |
protein-coding
|
Description |
Treacher Collins-Franceschetti syndrome 1
|
Other Description |
Treacher Collins syndrome protein|nucleolar trafficking phosphoprotein|treacle protein
|
Swissprots |
Q99860 Q13428 A0JLU0 Q7Z5W9 Q6SC72 B4E111 Q99408 Q96A52
|
Accessions |
AAB40722 AAC51185 EAW61732 EAW61733 EAW61734 EAW61735 EAW61736 EAW61737 EAW61738 EAW61739 Q13428 AB209317 BAD92554 AI419459 AI939467 AK096467 AK225284 AK296918 BAG59473 AK299167 BAG61214 AK303611 BAG64623 AK307586 AL133039 CAB61367 AW135418 AY460334 AAR87774 BC008331 BC011764 AAH11764 BC014559 AAH14559 BC016144 AAH16144 BC027252 AAH27252 BC033093 AAH33093 BM664489 BX537490 DC377932 U40847 AAC50903 U76366 AAC51181 XM_005268502 XP_005268559 XM_005268503 XP_005268560 XM_005268504 XP_005268561 XM_005268505 XP_005268562 XM_005268506 XP_005268563 XM_005268507 XP_005268564 XM_005268508 XP_005268565 XM_005268509 XP_005268566 XM_011537678 XP_011535980 XR_427778 XR_427779 XR_427780 NM_000356 NP_000347 NM_001008657 NP_001008657 NM_001135243 NP_001128715 NM_001135244 NP_001128716 NM_001135245 NP_001128717 NM_001195141 NP_001182070 NM_001008656
|
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. {ECO:0000250, ECO:0000269|PubMed:12777385}.
|
Subcellular Location |
Nucleus, nucleolus {ECO:0000269|PubMed:12777385}.
|
Top Pathways |
Ribosome biogenesis in eukaryotes
|