Human Gene TFIP11 (uc003acs.2)
  Description: Homo sapiens tuftelin interacting protein 11 (TFIP11), transcript variant 1, mRNA.
RefSeq Summary (NM_001008697): 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 splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016].
Transcript (Including UTRs)
   Position: hg19 chr22:26,887,894-26,908,437 Size: 20,544 Total Exon Count: 16 Strand: -
Coding Region
   Position: hg19 chr22:26,887,979-26,906,238 Size: 18,260 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr22:26,887,894-26,908,437)mRNA (may differ from genome)Protein (837 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TFP11_HUMAN
DESCRIPTION: RecName: Full=Tuftelin-interacting protein 11; AltName: Full=Septin and tuftelin-interacting protein 1; Short=STIP-1;
FUNCTION: May play a role in the differentiation of ameloblasts and odontoblasts or in the forming of the enamel extracellular matrix. May also be involved in pre-mRNA splicing.
SUBUNIT: Interacts with TUFT1 (By similarity). Identified in the spliceosome C complex.
SUBCELLULAR LOCATION: Cytoplasm (By similarity). Nucleus (By similarity).
SIMILARITY: Belongs to the TFP11/STIP family.
SIMILARITY: Contains 1 G-patch domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): TFIP11
CDC HuGE Published Literature: TFIP11
Positive Disease Associations: Glucose
Related Studies:
  1. Glucose
    , , . [PubMed 0]

-  MalaCards Disease Associations
  MalaCards Gene Search: TFIP11
Diseases sorted by gene-association score: dental caries (7)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 20.89 RPKM in Testis
Total median expression: 389.89 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -93.70327-0.287 Picture PostScript Text
3' UTR -23.4085-0.275 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000467 - G_patch_dom
IPR022783 - GCFC_dom
IPR024933 - STIP
IPR022159 - TIP_N

Pfam Domains:
PF01585 - G-patch domain
PF07842 - GC-rich sequence DNA-binding factor-like protein
PF12457 - Tuftelin interacting protein N terminal

ModBase Predicted Comparative 3D Structure on Q9UBB9
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003676 nucleic acid binding
GO:0005515 protein binding

Biological Process:
GO:0000390 spliceosomal complex disassembly
GO:0000398 mRNA splicing, via spliceosome
GO:0006396 RNA processing
GO:0006397 mRNA processing
GO:0008380 RNA splicing
GO:0031214 biomineral tissue development
GO:0031333 negative regulation of protein complex assembly
GO:0031848 protection from non-homologous end joining at telomere
GO:0032091 negative regulation of protein binding
GO:1904876 negative regulation of DNA ligase activity
GO:2001033 negative regulation of double-strand break repair via nonhomologous end joining

Cellular Component:
GO:0000784 nuclear chromosome, telomeric region
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005681 spliceosomal complex
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0016607 nuclear speck
GO:0071008 U2-type post-mRNA release spliceosomal complex
GO:0071013 catalytic step 2 spliceosome


-  Descriptions from all associated GenBank mRNAs
  LF206920 - JP 2014500723-A/14423: Polycomb-Associated Non-Coding RNAs.
AL050258 - Novel human mRNA similar to mouse tuftelin-interacting protein 10 mRNA, AF097181.
JD502354 - Sequence 483378 from Patent EP1572962.
AF070662 - Homo sapiens HSPC006 mRNA, complete cds.
BC011599 - Homo sapiens tuftelin interacting protein 11, mRNA (cDNA clone MGC:1355 IMAGE:3051032), complete cds.
AL080147 - Homo sapiens mRNA; cDNA DKFZp434B194 (from clone DKFZp434B194).
AK299964 - Homo sapiens cDNA FLJ57193 complete cds, highly similar to Tuftelin-interacting protein 11.
AK298303 - Homo sapiens cDNA FLJ58206 complete cds, highly similar to Tuftelin-interacting protein 11.
AK025443 - Homo sapiens cDNA: FLJ21790 fis, clone HEP00426, highly similar to HS1048E9A Novel human mRNA similar to mouse tuftelin-interacting protein 10 mRNA.
BC033080 - Homo sapiens tuftelin interacting protein 11, mRNA (cDNA clone MGC:45639 IMAGE:3544615), complete cds.
AK025739 - Homo sapiens cDNA: FLJ22086 fis, clone HEP14922, highly similar to HS1048E9A Novel human mRNA similar to mouse tuftelin-interacting protein 10 mRNA.
CT841511 - Homo sapiens bK445C9.6 full length open reading frame (ORF) cDNA clone (cDNA clone C22ORF:pGEM.bK445C9.6.V6).
CU012962 - Homo sapiens TFIP11, mRNA (cDNA clone IMAGE:100000521), complete cds, with stop codon, in Gateway system.
KJ898542 - Synthetic construct Homo sapiens clone ccsbBroadEn_07936 TFIP11 gene, encodes complete protein.
BT007274 - Homo sapiens tuftelin interacting protein 11 mRNA, complete cds.
DQ892251 - Synthetic construct clone IMAGE:100004881; FLH184525.01X; RZPDo839G11144D tuftelin interacting protein 11 (TFIP11) gene, encodes complete protein.
DQ896849 - Synthetic construct Homo sapiens clone IMAGE:100011309; FLH184521.01L; RZPDo839G11143D tuftelin interacting protein 11 (TFIP11) gene, encodes complete protein.
AM393087 - Synthetic construct Homo sapiens clone IMAGE:100001648 for hypothetical protein (TFIP11 gene).
CU013250 - Homo sapiens TFIP11, mRNA (cDNA clone IMAGE:100000425), complete cds, without stop codon, in Gateway system.
AB384750 - Synthetic construct DNA, clone: pF1KB3106, Homo sapiens TFIP11 gene for tuftelin-interacting protein 11, complete cds, without stop codon, in Flexi system.
DQ577222 - Homo sapiens piRNA piR-45334, complete sequence.
LF359357 - JP 2014500723-A/166860: Polycomb-Associated Non-Coding RNAs.
DQ583719 - Homo sapiens piRNA piR-50831, complete sequence.
JD209733 - Sequence 190757 from Patent EP1572962.
JD331538 - Sequence 312562 from Patent EP1572962.
JD172454 - Sequence 153478 from Patent EP1572962.
MA442497 - JP 2018138019-A/14423: Polycomb-Associated Non-Coding RNAs.
MA594934 - JP 2018138019-A/166860: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9UBB9 (Reactome details) participates in the following event(s):

R-HSA-72163 mRNA Splicing - Major Pathway
R-HSA-72172 mRNA Splicing
R-HSA-72203 Processing of Capped Intron-Containing Pre-mRNA
R-HSA-8953854 Metabolism of RNA

-  Other Names for This Gene
  Alternate Gene Symbols: HSPC006, NM_001008697, NP_036275, O95908, Q20WL0, Q5H8V8, Q9UBB9, Q9UGV7, Q9Y2Q8, STIP, TFP11_HUMAN
UCSC ID: uc003acs.2
RefSeq Accession: NM_001008697
Protein: Q9UBB9 (aka TFP11_HUMAN or TP11_HUMAN)
CCDS: CCDS13838.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001008697.1
exon count: 16CDS single in 3' UTR: no RNA size: 2941
ORF size: 2514CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 5039.00frame shift in genome: no % Coverage: 99.49
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.