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    TFIP11 tuftelin interacting protein 11 [ Homo sapiens (human) ]

    Gene ID: 24144, updated on 14-Nov-2024

    Summary

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    Official Symbol
    TFIP11provided by HGNC
    Official Full Name
    tuftelin interacting protein 11provided by HGNC
    Primary source
    HGNC:HGNC:17165
    See related
    Ensembl:ENSG00000100109 MIM:612747; AllianceGenome:HGNC:17165
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NTR1; STIP; TIP39; STIP-1; Spp382; bK445C9.6
    Summary
    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]
    Expression
    Ubiquitous expression in testis (RPKM 20.2), bone marrow (RPKM 19.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TFIP11 in Genome Data Viewer
    Location:
    22q12.1
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (26491240..26512473, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (26953642..26974877, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (26887206..26908439, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13567 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13568 Neighboring gene Sharpr-MPRA regulatory region 14748 Neighboring gene RPS3A pseudogene 55 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:26836513-26836669 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr22:26837982-26839181 Neighboring gene aspartate beta-hydroxylase domain containing 2 Neighboring gene HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:26866926-26868125 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13569 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18791 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr22:26889254-26890453 Neighboring gene SRR1 domain containing Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13570 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr22:26902046-26903245 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18792 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:26908724-26909261 Neighboring gene TFIP11 divergent transcript Neighboring gene tyrosylprotein sulfotransferase 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:26937311-26937812 Neighboring gene Sharpr-MPRA regulatory region 3066 Neighboring gene microRNA 548j

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Structural organization and cellular localization of tuftelin-interacting protein 11 (TFIP11). Wen X, et al. Cell Mol Life Sci, 2005 May. PMID 15868102
    2. TFIP11 promotes replication fork reversal to preserve genome stability. Chen J, et al. Nat Commun, 2024 Feb 10. PMID 38341452, Free PMC Article
    3. DHX15-independent roles for TFIP11 in U6 snRNA modification, U4/U6.U5 tri-snRNP assembly and pre-mRNA splicing fidelity. Duchemin A, et al. Nat Commun, 2021 Nov 17. PMID 34789764, Free PMC Article
    4. Pre-mRNA splicing: awash in a sea of proteins. Jurica MS, et al. Mol Cell, 2003 Jul. PMID 12887888
    5. TFIP11, CCNL1 and EWSR1 Protein-protein Interactions, and Their Nuclear Localization. Tannukit S, et al. Int J Mol Sci, 2008 Aug. PMID 19122807, Free PMC Article

    See all (128) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TFIP11 promotes replication fork reversal to preserve genome stability.
      Title: TFIP11 promotes replication fork reversal to preserve genome stability.
    2. DHX15-independent roles for TFIP11 in U6 snRNA modification, U4/U6.U5 tri-snRNP assembly and pre-mRNA splicing fidelity.
      Title: DHX15-independent roles for TFIP11 in U6 snRNA modification, U4/U6.U5 tri-snRNP assembly and pre-mRNA splicing fidelity.
    3. the high expression and activation effect on the ERK1/2 signaling of STIP in lymphoblastic leukemia suggest that STIP would be a potential therapy target or diagnosis marker for leukemia.
      Title: STIP Regulates ERK1/2 Signaling Pathway Involved in Interaction with PP1γ in Lymphoblastic Leukemia.
    4. We now report the identification of a novel molecular function of STIP that links USP7 to the p53-Mdm2 pathway
      Title: STIP is a critical nuclear scaffolding protein linking USP7 to p53-Mdm2 pathway regulation.
    5. Results suggest that Sip1/tuftelin-interacting protein (STIP, also referred to as TFIP11) may be a novel potential diagnostic and therapeutic target for non-small cell lung cancer (NSCLC).
      Title: STIP overexpression confers oncogenic potential to human non-small cell lung cancer cells by regulating cell cycle and apoptosis.
    6. the statistically significant association of rs2337359 upstream of TUFT1 with dental caries experience via meta-analysis across adult samples (p < 0.002) and the suggestive association for multiple variants in TFIP11 across child samples
      Title: Effects of enamel matrix genes on dental caries are moderated by fluoride exposures.
    7. Associations between TFIP11 (p=0.02), ENAM (p=0.00001), and AMELX (p=0.01) could be seen with caries independent of having MIH or genomic DNA copies of Streptococcus mutans detected by real time PCR in the Brazilian sample.
      Title: Genes expressed in dental enamel development are associated with molar-incisor hypomineralization.
    8. These data help define the mechanism of nuclear/nuclear speckle localization of the splicing factor TFIP11, with implications for it's function.
      Title: Identification of a novel nuclear localization signal and speckle-targeting sequence of tuftelin-interacting protein 11, a splicing factor involved in spliceosome disassembly.
    9. Observational study of gene-disease association. (HuGE Navigator)
      Title: Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients.
    10. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Enamel formation genes are associated with high caries experience in Turkish children.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ22086

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables nucleic acid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in RNA processing IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in biomineral tissue development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mRNA splicing, via spliceosome IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in negative regulation of double-strand break repair via nonhomologous end joining ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in negative regulation of protein-containing complex assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protection from non-homologous end joining at telomere IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in spliceosomal complex disassembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in spliceosomal complex disassembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of U2-type post-mRNA release spliceosomal complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of U2-type post-mRNA release spliceosomal complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of catalytic step 2 spliceosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in chromosome, telomeric region IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular matrix IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    part_of spliceosomal complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    tuftelin-interacting protein 11
    Names
    septin and tuftelin-interacting protein 1
    sip1/tuftelin interacting protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001008697.3 → NP_001008697.1  tuftelin-interacting protein 11 isoform 1

      See identical proteins and their annotated locations for NP_001008697.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1. Variants 1-6 encode the same isoform (1).
      Source sequence(s)
      AI468631, AL050258, CT841511, Z95115
      Consensus CDS
      CCDS13838.1
      UniProtKB/Swiss-Prot
      O95908, Q20WL0, Q5H8V8, Q9UBB9, Q9UGV7, Q9Y2Q8
      UniProtKB/TrEMBL
      Q8N523
      Related
      ENSP00000384297.1, ENST00000405938.5
      Conserved Domains (3) summary
      pfam01585
      Location:149 → 191
      G-patch; G-patch domain
      pfam07842
      Location:397 → 666
      GCFC; GC-rich sequence DNA-binding factor-like protein
      pfam12457
      Location:23 → 104
      TIP_N; Tuftelin interacting protein N terminal

    2. NM_001346857.2 → NP_001333786.1  tuftelin-interacting protein 11 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 5' UTR, compared to variant 1. Variants 1-6 encode the same isoform (1).
      Source sequence(s)
      AI468631, Z95115, Z99714
      Consensus CDS
      CCDS13838.1
      UniProtKB/Swiss-Prot
      O95908, Q20WL0, Q5H8V8, Q9UBB9, Q9UGV7, Q9Y2Q8
      UniProtKB/TrEMBL
      Q8N523
      Conserved Domains (3) summary
      pfam01585
      Location:149 → 191
      G-patch; G-patch domain
      pfam07842
      Location:397 → 666
      GCFC; GC-rich sequence DNA-binding factor-like protein
      pfam12457
      Location:23 → 104
      TIP_N; Tuftelin interacting protein N terminal

    3. NM_001346858.2 → NP_001333787.1  tuftelin-interacting protein 11 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site in the 5' UTR, compared to variant 1. Variants 1-6 encode the same isoform (1).
      Source sequence(s)
      AI468631, Z95115, Z99714
      Consensus CDS
      CCDS13838.1
      UniProtKB/Swiss-Prot
      O95908, Q20WL0, Q5H8V8, Q9UBB9, Q9UGV7, Q9Y2Q8
      UniProtKB/TrEMBL
      Q8N523
      Conserved Domains (3) summary
      pfam01585
      Location:149 → 191
      G-patch; G-patch domain
      pfam07842
      Location:397 → 666
      GCFC; GC-rich sequence DNA-binding factor-like protein
      pfam12457
      Location:23 → 104
      TIP_N; Tuftelin interacting protein N terminal

    4. NM_001346859.2 → NP_001333788.1  tuftelin-interacting protein 11 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, compared to variant 1. Variants 1-6 encode the same isoform (1).
      Source sequence(s)
      AI468631, DC411331, Z95115, Z99714
      Consensus CDS
      CCDS13838.1
      UniProtKB/Swiss-Prot
      O95908, Q20WL0, Q5H8V8, Q9UBB9, Q9UGV7, Q9Y2Q8
      UniProtKB/TrEMBL
      Q8N523
      Related
      ENSP00000385861.1, ENST00000407148.5
      Conserved Domains (3) summary
      pfam01585
      Location:149 → 191
      G-patch; G-patch domain
      pfam07842
      Location:397 → 666
      GCFC; GC-rich sequence DNA-binding factor-like protein
      pfam12457
      Location:23 → 104
      TIP_N; Tuftelin interacting protein N terminal

    5. NM_001346861.2 → NP_001333790.1  tuftelin-interacting protein 11 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR, compared to variant 1. Variants 1-6 encode the same isoform (1).
      Source sequence(s)
      AI468631, Z95115, Z99714
      Consensus CDS
      CCDS13838.1
      UniProtKB/Swiss-Prot
      O95908, Q20WL0, Q5H8V8, Q9UBB9, Q9UGV7, Q9Y2Q8
      UniProtKB/TrEMBL
      Q8N523
      Related
      ENSP00000480171.1, ENST00000619735.4
      Conserved Domains (3) summary
      pfam01585
      Location:149 → 191
      G-patch; G-patch domain
      pfam07842
      Location:397 → 666
      GCFC; GC-rich sequence DNA-binding factor-like protein
      pfam12457
      Location:23 → 104
      TIP_N; Tuftelin interacting protein N terminal

    6. NM_001346862.2 → NP_001333791.1  tuftelin-interacting protein 11 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR, lacks an in-frame portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) is shorter and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AI468631, Z95115, Z99714
      UniProtKB/TrEMBL
      Q8N523

    7. NM_012143.4 → NP_036275.1  tuftelin-interacting protein 11 isoform 1

      See identical proteins and their annotated locations for NP_036275.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 5' UTR, compared to variant1. Variants 1-6 encode the same isoform (1).
      Source sequence(s)
      AI468631, AL050258, DC411331
      Consensus CDS
      CCDS13838.1
      UniProtKB/Swiss-Prot
      O95908, Q20WL0, Q5H8V8, Q9UBB9, Q9UGV7, Q9Y2Q8
      UniProtKB/TrEMBL
      Q8N523
      Related
      ENSP00000384421.1, ENST00000407690.6
      Conserved Domains (3) summary
      pfam01585
      Location:149 → 191
      G-patch; G-patch domain
      pfam07842
      Location:397 → 666
      GCFC; GC-rich sequence DNA-binding factor-like protein
      pfam12457
      Location:23 → 104
      TIP_N; Tuftelin interacting protein N terminal

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      26491240..26512473 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      26953642..26974877 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UBB9.1 GenPept UniProtKB/Swiss-Prot:Q9UBB9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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