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Aliases for TFIP11 Gene

Aliases for TFIP11 Gene

  • Tuftelin Interacting Protein 11 2 3 5
  • Septin And Tuftelin-Interacting Protein 1 3 4
  • STIP-1 3 4
  • StIP 3 4
  • Sip1/Tuftelin Interacting Protein 3
  • Tuftelin-Interacting Protein 11 3
  • BK445C9.6 3
  • Spp382 3
  • TIP39 3
  • NTR1 3

External Ids for TFIP11 Gene

Previous GeneCards Identifiers for TFIP11 Gene

  • GC22M023583
  • GC22M025211
  • GC22M026887
  • GC22M009835

Summaries for TFIP11 Gene

Entrez Gene Summary for TFIP11 Gene

  • 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]

GeneCards Summary for TFIP11 Gene

TFIP11 (Tuftelin Interacting Protein 11) is a Protein Coding gene. Diseases associated with TFIP11 include Dental Caries. Among its related pathways are mRNA Splicing - Major Pathway and Gene Expression. GO annotations related to this gene include nucleic acid binding.

UniProtKB/Swiss-Prot for TFIP11 Gene

  • Involved in pre-mRNA splicing, specifically in spliceosome disassembly during late-stage splicing events. Intron turnover seems to proceed through reactions in two lariat-intron associated complexes termed Intron Large (IL) and Intron Small (IS). In cooperation with DHX15 seems to mediate the transition of the U2, U5 and U6 snRNP-containing IL complex to the snRNP-free IS complex leading to efficient debranching and turnover of excised introns. May play a role in the differentiation of ameloblasts and odontoblasts or in the forming of the enamel extracellular matrix.

Gene Wiki entry for TFIP11 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TFIP11 Gene

Genomics for TFIP11 Gene

Regulatory Elements for TFIP11 Gene

Enhancers for TFIP11 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22F026511 1.1 ENCODE 46.3 0.0 -26 2.4 HDGF PKNOX1 CREB3L1 MLX ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF143 TFIP11 ASPHD2 LOC100507599 GC22P026524
GH22F026478 1.1 ENCODE 36.9 +30.0 30022 7.5 HDGF MLX WRNIP1 ZFP64 ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF207 TFIP11 ASPHD2 SRRD LINC01638 RPL15P22 HPS4
GH22F026492 0.9 ENCODE 37.2 +19.1 19147 2.4 HDAC1 ATF1 PKNOX1 CREB3L1 INSM2 FEZF1 SCRT2 CREM ZBTB11 TSHZ1 TFIP11 SRRD PIR44880 PIR38333
GH22F026571 1.1 Ensembl ENCODE 16.4 -62.0 -61996 5.8 HDAC1 ATF1 PKNOX1 YBX1 ZBTB40 ELK1 ZNF143 FOS CREM HCFC1 HMGB1P10 TFIP11 TPST2 CRYBA4 CRYBB1 LOC100507599
GH22F026640 1.4 FANTOM5 ENCODE 11.9 -130.9 -130900 5.2 HDGF ATF1 PKNOX1 ARNT CREB3L1 ARID4B YBX1 ZNF2 ETS1 YY1 TPST2 CRYBB1 CRYBA4 HMGB1P10 MIR548J TFIP11 HPS4 SRRD LINC01422 MIATNB
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TFIP11 on UCSC Golden Path with GeneCards custom track

Promoters for TFIP11 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000084840 105 2401 HDGF PKNOX1 CREB3L1 MLX ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF143

Genomic Location for TFIP11 Gene

Chromosome:
22
Start:
26,491,225 bp from pter
End:
26,512,505 bp from pter
Size:
21,281 bases
Orientation:
Minus strand

Genomic View for TFIP11 Gene

Genes around TFIP11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TFIP11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TFIP11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TFIP11 Gene

Proteins for TFIP11 Gene

  • Protein details for TFIP11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UBB9-TFP11_HUMAN
    Recommended name:
    Tuftelin-interacting protein 11
    Protein Accession:
    Q9UBB9
    Secondary Accessions:
    • O95908
    • Q20WL0
    • Q5H8V8
    • Q9UGV7
    • Q9Y2Q8

    Protein attributes for TFIP11 Gene

    Size:
    837 amino acids
    Molecular mass:
    96820 Da
    Quaternary structure:
    • Identified in the spliceosome C complex. Found in the Intron Large (IL) complex, a post-mRNA release spliceosomal complex containing the excised intron, U2, U5 and U6 snRNPs, and splicing factors. Interacts with TUFT1. Interacts with DHX15; indicative for a recruitment of DHX15 to the IL complex. Interacts with GCFC2.

    Alternative splice isoforms for TFIP11 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TFIP11 Gene

Post-translational modifications for TFIP11 Gene

  • Ubiquitination at Lys 159 and Lys 780
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TFIP11 Gene

Domains & Families for TFIP11 Gene

Gene Families for TFIP11 Gene

Protein Domains for TFIP11 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UBB9

UniProtKB/Swiss-Prot:

TFP11_HUMAN :
  • Contains 1 G-patch domain.
  • Belongs to the TFP11/STIP family.
Domain:
  • Contains 1 G-patch domain.
Family:
  • Belongs to the TFP11/STIP family.
genes like me logo Genes that share domains with TFIP11: view

Function for TFIP11 Gene

Molecular function for TFIP11 Gene

UniProtKB/Swiss-Prot Function:
Involved in pre-mRNA splicing, specifically in spliceosome disassembly during late-stage splicing events. Intron turnover seems to proceed through reactions in two lariat-intron associated complexes termed Intron Large (IL) and Intron Small (IS). In cooperation with DHX15 seems to mediate the transition of the U2, U5 and U6 snRNP-containing IL complex to the snRNP-free IS complex leading to efficient debranching and turnover of excised introns. May play a role in the differentiation of ameloblasts and odontoblasts or in the forming of the enamel extracellular matrix.

Gene Ontology (GO) - Molecular Function for TFIP11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 17389648
genes like me logo Genes that share ontologies with TFIP11: view
genes like me logo Genes that share phenotypes with TFIP11: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TFIP11 Gene

Localization for TFIP11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TFIP11 Gene

Cytoplasm. Nucleus. Note=In the nucleus localizes to unique speckle domains in close proximity to nuclear speckles and not identical to paraspeckles. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TFIP11 gene
Compartment Confidence
nucleus 5
cytosol 3
extracellular 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for TFIP11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000784 nuclear chromosome, telomeric region IDA 17389648
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005634 nucleus IEA --
GO:0005681 spliceosomal complex IDA 11991638
GO:0005730 nucleolus IDA 17389648
genes like me logo Genes that share ontologies with TFIP11: view

Pathways & Interactions for TFIP11 Gene

genes like me logo Genes that share pathways with TFIP11: view

Pathways by source for TFIP11 Gene

Gene Ontology (GO) - Biological Process for TFIP11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000390 spliceosomal complex disassembly IMP 19103666
GO:0000398 mRNA splicing, via spliceosome IC 11991638
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006396 RNA processing IC 11991638
GO:0006397 mRNA processing IEA --
genes like me logo Genes that share ontologies with TFIP11: view

No data available for SIGNOR curated interactions for TFIP11 Gene

Transcripts for TFIP11 Gene

Unigene Clusters for TFIP11 Gene

Tuftelin interacting protein 11:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TFIP11 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5a · 5b · 5c · 5d ^ 6 ^ 7a · 7b · 7c · 7d · 7e · 7f ^ 8a · 8b ^ 9 ^
SP1: - - -
SP2: - - - - -
SP3: - - - - - - -
SP4: - - -
SP5: - - - -
SP6: - - -
SP7: - - - - -
SP8: - - - - - -
SP9: - - - - - - - - - -
SP10: -
SP11: - - - - - -
SP12: - - - - - - - - - - - - - -
SP13: - - - -
SP14: - - - -
SP15: - - - - - - - - -
SP16: - - - - - - -
SP17: - - -
SP18:
SP19:
SP20:

ExUns: 10a · 10b ^ 11a · 11b · 11c ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19
SP1: - -
SP2:
SP3:
SP4:
SP5:
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18: -
SP19:
SP20:

Relevant External Links for TFIP11 Gene

GeneLoc Exon Structure for
TFIP11
ECgene alternative splicing isoforms for
TFIP11

Expression for TFIP11 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TFIP11 Gene

Protein differential expression in normal tissues from HIPED for TFIP11 Gene

This gene is overexpressed in Cervix (26.6) and Peripheral blood mononuclear cells (15.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TFIP11 Gene



Protein tissue co-expression partners for TFIP11 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TFIP11 Gene:

TFIP11

SOURCE GeneReport for Unigene cluster for TFIP11 Gene:

Hs.20225
genes like me logo Genes that share expression patterns with TFIP11: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TFIP11 Gene

Orthologs for TFIP11 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TFIP11 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TFIP11 34 35
  • 99.56 (n)
oppossum
(Monodelphis domestica)
Mammalia TFIP11 35
  • 93 (a)
OneToMany
-- 35
  • 85 (a)
OneToMany
dog
(Canis familiaris)
Mammalia TFIP11 34 35
  • 91.2 (n)
cow
(Bos Taurus)
Mammalia TFIP11 34 35
  • 87.57 (n)
rat
(Rattus norvegicus)
Mammalia Tfip11 34
  • 86.06 (n)
mouse
(Mus musculus)
Mammalia Tfip11 34 16 35
  • 85.66 (n)
chicken
(Gallus gallus)
Aves TFIP11 34 35
  • 79.89 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia tfip11 34
  • 74.91 (n)
Str.4686 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.4331 34
zebrafish
(Danio rerio)
Actinopterygii tfip11 34 35
  • 66.63 (n)
wufd15a02 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10819 34
fruit fly
(Drosophila melanogaster)
Insecta sip1 36 34 35
  • 49.22 (n)
worm
(Caenorhabditis elegans)
Secernentea stip-1 34 35
  • 45.66 (n)
C07E3.1a 36
  • 30 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G17070 34
  • 48.38 (n)
rice
(Oryza sativa)
Liliopsida Os12g0615800 34
  • 48.15 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU06950 34
  • 46.26 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 41 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC1486.03c 34
  • 40.76 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8614 34
Species where no ortholog for TFIP11 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TFIP11 Gene

ENSEMBL:
Gene Tree for TFIP11 (if available)
TreeFam:
Gene Tree for TFIP11 (if available)

Paralogs for TFIP11 Gene

No data available for Paralogs for TFIP11 Gene

Variants for TFIP11 Gene

Sequence variations from dbSNP and Humsavar for TFIP11 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs1008530 -- 26,499,371(+) AGCTC(A/G)TGGAA reference, synonymous-codon
rs1045523 -- 26,491,863(-) TAAAA(C/T)GGGAC downstream-variant-500B, utr-variant-3-prime
rs10716815 -- 26,498,561(+) AAAAA(-/A)GACTA intron-variant
rs11090443 -- 26,509,558(+) CACTG(A/G)TAATT intron-variant
rs111262527 -- 26,501,493(+) GGAGG(C/T)AGGAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TFIP11 Gene

Variant ID Type Subtype PubMed ID
nsv955489 CNV deletion 24416366
nsv7350 OTHER inversion 18451855
nsv1150426 CNV deletion 26484159
nsv1144408 CNV deletion 24896259
nsv1112985 CNV deletion 24896259
esv2758831 CNV loss 17122850
esv2724091 CNV deletion 23290073
dgv1310e212 CNV gain 25503493
dgv1309e212 CNV loss 25503493

Variation tolerance for TFIP11 Gene

Residual Variation Intolerance Score: 9.41% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.77; 47.10% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TFIP11 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TFIP11

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TFIP11 Gene

Disorders for TFIP11 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TFIP11 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
dental caries
  • dental caries extending into pulp
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for TFIP11

Genetic Association Database (GAD)
TFIP11
Human Genome Epidemiology (HuGE) Navigator
TFIP11
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TFIP11
genes like me logo Genes that share disorders with TFIP11: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TFIP11 Gene

Publications for TFIP11 Gene

  1. Enamel formation genes are associated with high caries experience in Turkish children. (PMID: 18781068) Patir A. … Vieira A.R. (Caries Res. 2008) 3 22 46 64
  2. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S. … Poustka A. (Genome Res. 2001) 2 3 4 64
  3. Identification of a novel component C2ORF3 in the lariat-intron complex: lack of C2ORF3 interferes with pre-mRNA splicing via intron turnover pathway. (PMID: 24304693) Yoshimoto R. … Kataoka N. (Genes Cells 2014) 3 4 64
  4. Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients. (PMID: 20398908) Saus E. … Estivill X. (J Psychiatr Res 2010) 3 46 64
  5. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PMID: 19086053) GratacA^s M. … Carracedo A. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009) 3 46 64

Products for TFIP11 Gene

Sources for TFIP11 Gene

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