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

Gene ID: 24144, updated on 1-Jun-2020

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
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

Genomic context

See TFIP11 in Genome Data Viewer
Location:
22q12.1
Exon count:
16
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (26491240..26513591, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (26887893..26908462, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein S3A pseudogene Neighboring gene aspartate beta-hydroxylase domain containing 2 Neighboring gene HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 Neighboring gene SRR1 domain containing Neighboring gene uncharacterized LOC100507599 Neighboring gene tyrosylprotein sulfotransferase 2 Neighboring gene microRNA 548j Neighboring gene high mobility group box 1 pseudogene 10

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

Homology

Clone Names

  • FLJ22086

Gene Ontology Provided by GOA

Function Evidence Code Pubs
nucleic acid binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
U2-type post-mRNA release spliceosomal complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
U2-type post-mRNA release spliceosomal complex IDA
Inferred from Direct Assay
more info
PubMed 
catalytic step 2 spliceosome IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
extracellular matrix IEA
Inferred from Electronic Annotation
more info
 
nuclear chromosome, telomeric region IDA
Inferred from Direct Assay
more info
PubMed 
nuclear speck IDA
Inferred from Direct Assay
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
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)

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_001008697.2NP_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
    Q9UBB9
    UniProtKB/TrEMBL
    A0A024R1I7
    Related
    ENSP00000384297.1, ENST00000405938.5
    Conserved Domains (3) summary
    pfam01585
    Location:149193
    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_001346857.1NP_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
    Q9UBB9
    UniProtKB/TrEMBL
    A0A024R1I7
    Conserved Domains (3) summary
    pfam01585
    Location:149193
    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_001346858.1NP_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
    Q9UBB9
    UniProtKB/TrEMBL
    A0A024R1I7
    Conserved Domains (3) summary
    pfam01585
    Location:149193
    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_001346859.1NP_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
    Q9UBB9
    UniProtKB/TrEMBL
    A0A024R1I7
    Related
    ENSP00000385861.1, ENST00000407148.5
    Conserved Domains (3) summary
    pfam01585
    Location:149193
    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_001346861.1NP_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
    Q9UBB9
    UniProtKB/TrEMBL
    A0A024R1I7
    Conserved Domains (3) summary
    pfam01585
    Location:149193
    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_001346862.1NP_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
  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
    Q9UBB9
    UniProtKB/TrEMBL
    A0A024R1I7
    Related
    ENSP00000384421.1, ENST00000407690.6
    Conserved Domains (3) summary
    pfam01585
    Location:149193
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    26491240..26513591 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024452194.1XP_024307962.1  tuftelin-interacting protein 11 isoform X1

    Conserved Domains (3) summary
    pfam01585
    Location:149193
    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. XM_024452195.1XP_024307963.1  tuftelin-interacting protein 11 isoform X1

    Conserved Domains (3) summary
    pfam01585
    Location:149193
    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
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