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

    Gene ID: 24144, updated on 7-Apr-2024

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    Location:
    22q12.1
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (26491240..26512473, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (26953642..26974877, complement)
    105.20220307 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

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001008697.3NP_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:149191
      G-patch; G-patch domain
      pfam07842
      Location:397666
      GCFC; GC-rich sequence DNA-binding factor-like protein
      pfam12457
      Location:23104
      TIP_N; Tuftelin interacting protein N terminal
    2. NM_001346857.2NP_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:149191
      G-patch; G-patch domain
      pfam07842
      Location:397666
      GCFC; GC-rich sequence DNA-binding factor-like protein
      pfam12457
      Location:23104
      TIP_N; Tuftelin interacting protein N terminal
    3. NM_001346858.2NP_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:149191
      G-patch; G-patch domain
      pfam07842
      Location:397666
      GCFC; GC-rich sequence DNA-binding factor-like protein
      pfam12457
      Location:23104
      TIP_N; Tuftelin interacting protein N terminal
    4. NM_001346859.2NP_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:149191
      G-patch; G-patch domain
      pfam07842
      Location:397666
      GCFC; GC-rich sequence DNA-binding factor-like protein
      pfam12457
      Location:23104
      TIP_N; Tuftelin interacting protein N terminal
    5. NM_001346861.2NP_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:149191
      G-patch; G-patch domain
      pfam07842
      Location:397666
      GCFC; GC-rich sequence DNA-binding factor-like protein
      pfam12457
      Location:23104
      TIP_N; Tuftelin interacting protein N terminal
    6. NM_001346862.2NP_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_012143.4NP_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:149191
      G-patch; G-patch domain
      pfam07842
      Location:397666
      GCFC; GC-rich sequence DNA-binding factor-like protein
      pfam12457
      Location:23104
      TIP_N; Tuftelin interacting protein N terminal

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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)