Bioinformatics Database
TFIP11: Tuftelin interacting protein 11
3D Protein Structure Viewer
Cellular Process
Enamel formation
Gene Name
TFIP11: Tuftelin interacting protein 11
Gene ID
24144
Gene Sequence
General Description
This gene encodes a protein component of the spliceosome that promotes the release of the lariat-intron during late-stage splicing through the recruitment of a pre-mRNA splicing factor called DEAH-box helicase 15. The encoded protein contains a G-patch domain, a hallmark of RNA-processing proteins, that binds DEAH-box helicase 15. This protein contains an atypical nuclear localization sequence as well as a nuclear speckle-targeting sequence, enabling it to localize to distinct speckled regions within the cell nucleus. Polymorphisms in this gene are associated with dental caries suggesting a role in amelogenesis.
Alternative titles; symbols
TUFTELIN-INTERACTING PROTEIN, 39-KD; TIP39 NTR1, S. CEREVISIAE, HOMOLOG OF
Chromosome
Chromosome 22
Cytogenetic location
22q12.1
Encoded Protein
Tuftelin-interacting protein 11 isoform 1
Function of the protein in oral and tooth development
Tuftelin is suggested to play an important role in the development and mineralization of enamel, although the precise details are unknown (Deutsch et al., 2002). Sovik et al., (2015) reported genetic variation in TFIP11 to contribute in dental erosive wear. susceptibility.
Dental and Oral Diseases
Protein Sequence
>NP_036275.1 tuftelin-interacting protein 11 isoform 1 [Homo sapiens]
MSLSHLYRDGEGRIDDDDDERENFEITDWDLQNEFNPNRQRHWQTKEEATYGVWAERDSDDERPSFGGKR
ARDYSAPVNFISAGLKKGAAEEAELEDSDDEEKPVKQDDFPKDFGPRKLKTGGNFKPSQKGFAGGTKSFM
DFGSWERHTKGIGQKLLQKMGYVPGRGLGKNAQGIINPIEAKQRKGKGAVGAYGSERTTQSMQDFPVVDS
EEEAEEEFQKELSQWRKDPSGSKKKPKYSYKTVEELKAKGRISKKLTAPQKELSQVKVIDMTGREQKVYY
SYSQISHKHNVPDDGLPLQSQQLPQSGKEAKAPGFALPELEHNLQLLIDLTEQEIIQNDRQLQYERDMVV
NLFHELEKMTEVLDHEERVISNLSKVLEMVEECERRMQPDCSNPLTLDECARIFETLQDKYYEEYRMSDR
VDLAVAIVYPLMKEYFKEWDPLKDCTYGTEIISKWKSLLENDQLLSHGGQDLSADAFHRLIWEVWMPFVR
NIVTQWQPRNCDPMVDFLDSWVHIIPVWILDNILDQLIFPKLQKEVENWNPLTDTVPIHSWIHPWLPLMQ
ARLEPLYSPIRSKLSSALQKWHPSDSSAKLILQPWKDVFTPGSWEAFMVKNIVPKLGMCLGELVINPHQQ
HMDAFYWVIDWEGMISVSSLVGLLEKHFFPKWLQVLCSWLSNSPNYEEITKWYLGWKSMFSDQVLAHPSV
KDKFNEALDIMNRAVSSNVGAYMQPGARENIAYLTHTERRKDFQYEAMQERREAENMAQRGIGVAASSVP
MNFKDLIETKAEEHNIVFMPVIGKRHEGKQLYTFGRIVIYIDRGVVFVQGEKTWVPTSLQSLIDMAK
Mutations
Related Literature
Deutsch et al., (2002): https://doi.org/10.1080/03008200290001186
Søvik et al., (2015): https://doi.org/10.1159/000369565
