TIPRL TOR signaling pathway regulator [Homo sapiens (human)] - Gene

Summary

Official Symbol: TIPRLprovided by HGNC
Official Full Name: TOR signaling pathway regulatorprovided by HGNC
Primary source: HGNC:HGNC:30231
See related: Ensembl:ENSG00000143155 MIM:611807; AllianceGenome:HGNC:30231
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TIP; TIP41; TIPRL1
Summary: TIPRL is an inhibitory regulator of protein phosphatase-2A (PP2A) (see PPP2CA; MIM 176915), PP4 (see PPP4C; MIM 602035), and PP6 (see PPP6C; MIM 612725) (McConnell et al., 2007 [PubMed 17384681]).[supplied by OMIM, Nov 2010]
Expression: Ubiquitous expression in endometrium (RPKM 11.7), brain (RPKM 11.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q24.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (168178962..168202109)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (167530459..167553616)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (168148200..168171347)

Chromosome 1 - NC_000001.11 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?

The positive correlation of TIPRL with LC3 and CD133 contributes to cancer aggressiveness: potential biomarkers for early liver cancer.
Title: The positive correlation of TIPRL with LC3 and CD133 contributes to cancer aggressiveness: potential biomarkers for early liver cancer.
TIPRL potentiates survival of lung cancer by inducing autophagy through the eIF2alpha-ATF4 pathway.
Title: TIPRL potentiates survival of lung cancer by inducing autophagy through the eIF2α-ATF4 pathway.
MPC2 rs10489202 was genome-wide significantly associated with schizophrenia. The expression quantitative trait loci analysis in lymphoblastoid cell lines from East Asian donors revealed that MPC2 rs10489202 was specifically and significantly associated with the expression of TIPRL gene.
Title: Genetic association and meta-analysis of a schizophrenia GWAS variant rs10489202 in East Asian populations.
overexpression of TIPRL promotes phosphorylation of H2AX, and increases gamma-H2AX positive foci in response to DNA damage, whereas knockdown of TIPRL inhibits gamma-H2AX phosphorylation
Title: TIPRL Inhibits Protein Phosphatase 4 Activity and Promotes H2AX Phosphorylation in the DNA Damage Response.
Unlike yeast TIP41, TIPRL has a positive effect on mTORC1 signaling through the association with PP2Ac.
Title: A positive role of mammalian Tip41-like protein, TIPRL, in the amino-acid dependent mTORC1-signaling pathway through interaction with PP2A.
Data indicate that PP2A holoenzyme biogenesis and activity are controlled by five PP2A modulators, consisting of alpha4, PTPA, LCMT1, PME-1 and TIPRL1, which serve to prevent promiscuous phosphatase activity until the holoenzyme is completely assembled.
Title: The biogenesis of active protein phosphatase 2A holoenzymes: a tightly regulated process creating phosphatase specificity.
TIPRL is highly up-regulated in human HCC samples and cell lines, compared with noncancerous liver tissues.
Title: Inhibition of MKK7-JNK by the TOR signaling pathway regulator-like protein contributes to resistance of HCC cells to TRAIL-induced apoptosis.
Observational study of gene-disease association. (HuGE Navigator)
Title: Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study.

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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

RH103557 (e-PCR)
- UniSTS:97882

D1S2566 (e-PCR)
- UniSTS:16361

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA damage checkpoint signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in TOR signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of phosphoprotein phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of phosphoprotein phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: TIP41-like protein

Names: TIP41, TOR signaling pathway regulator-like; putative MAPK-activating protein PM10; type 2A-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_001031800.3 → NP_001026970.1 TIP41-like protein isoform 2

See identical proteins and their annotated locations for NP_001026970.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks several exons, and uses an alternate 3'-terminal exon, compared to variant 1. This results in a novel 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.

Source sequence(s)

AK313520, BC009506

Consensus CDS

CCDS30935.1

UniProtKB/Swiss-Prot

O75663

Related

ENSP00000356804.3, ENST00000367830.3

Conserved Domains (1) summary

pfam04176
Location:56 → 172

TIP41; TIP41-like family
NM_152902.5 → NP_690866.1 TIP41-like protein isoform 1

See identical proteins and their annotated locations for NP_690866.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AK313520, AL021397

Consensus CDS

CCDS1270.1

UniProtKB/Swiss-Prot

B2R8V3, O75663, Q5HYB2, Q8IZ86

Related

ENSP00000356807.2, ENST00000367833.7

Conserved Domains (1) summary

pfam04176
Location:50 → 218

TIP41; TIP41-like family