InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TCOF1

Summary

InnateDB Protein

IDBP-53508.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

TCOF1

Protein Name

Treacher Collins-Franceschetti syndrome 1

Synonyms

MFD1; TCS; TCS1; treacle;

Species

Homo sapiens

Ensembl Protein

ENSP00000325223

InnateDB Gene

IDBG-53504 (TCOF1)

Protein Structure

UniProt Annotation

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:0000269PubMed:12777385}.

Subcellular Localization

Nucleus, nucleolus {ECO:0000269PubMed:12777385}.

Disease Associations

Treacher Collins syndrome 1 (TCS1) [MIM:154500]: 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. {ECO:0000269PubMed:9042910}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 47 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	47 [view]
Protein-Protein	46 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005215	transporter activity
GO:0005515	protein binding
GO:0044822	poly(A) RNA binding

Biological Process

GO:0001501	skeletal system development
GO:0006810	transport

Cellular Component

GO:0005634	nucleus
GO:0005730	nucleolus
GO:0005737	cytoplasm

Protein Structure and Domains

PDB ID

InterPro

IPR003993 Treacher Collins syndrome, treacle
IPR006594 LisH dimerisation motif
IPR017859 Treacle-like, Treacher Collins Syndrome

PFAM

PF03546

PRINTS

PR01503

PIRSF

SMART

SM00667

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q13428

PhosphoSite

PhosphoSite-Q13428

TrEMBL

Q9UFD4

UniProt Splice Variant

Entrez Gene

6949

UniGene

Hs.519672

RefSeq

NP_000347

HUGO

HGNC:11654

OMIM

606847

CCDS

CCDS4306

HPRD

06026

IMGT

EMBL

AC011372 AK303611 AL133039 AY460334 BC011764 BC014559 BC016144 BC027252 BC033093 U40847 U76366 U79645 U79646 U79647 U79648 U79649 U79650 U79651 U79652 U79653 U79654 U79655 U79656 U79657 U79658 U79659 U84640 U84641 U84642 U84643 U84644 U84645 U84646 U84647 U84648 U84649 U84650 U84651 U84652 U84653 U84654 U84655 U84656 U84657 U84658 U84659 U84660 U84661 U84662 U84663 U84664

GenPept

AAB40722 AAC50903 AAC51181 AAC51185 AAH11764 AAH14559 AAH16144 AAH27252 AAH33093 AAR87774 BAG64623 CAB61367