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

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: mouse all
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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_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TFIP11 promotes replication fork reversal to preserve genome stability.
Title: TFIP11 promotes replication fork reversal to preserve genome stability.
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.
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.
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.
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.
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.
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.
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.
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.
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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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH66366 (e-PCR)
- UniSTS:63098

RH102578 (e-PCR)
- UniSTS:96912

A007C16 (e-PCR)
- UniSTS:77469

STS-N30363 (e-PCR)
- UniSTS:74430

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 DNA ligase activity	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 binding	IDA Inferred from Direct Assay 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)

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
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
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
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
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
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
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