MTREX Mtr4 exosome RNA helicase [Homo sapiens (human)] - Gene

Summary

Official Symbol: MTREXprovided by HGNC
Official Full Name: Mtr4 exosome RNA helicaseprovided by HGNC
Primary source: HGNC:HGNC:18734
See related: Ensembl:ENSG00000039123 MIM:618122; AllianceGenome:HGNC:18734
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: Dob1; Mtr4; SKIV2L2; fSAP118; KIAA0052
Summary: Enables ATP binding activity and RNA helicase activity. Involved in DNA damage response; RNA catabolic process; and maturation of 5.8S rRNA. Located in nuclear exosome (RNase complex) and nucleoplasm. Part of TRAMP complex and catalytic step 2 spliceosome. Biomarker of amyotrophic lateral sclerosis. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in prostate (RPKM 29.9), gall bladder (RPKM 23.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q11.2

Exon count:: 27

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (55307989..55425579)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (56135296..56252888)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (54603817..54721407)

Chromosome 5 - NC_000005.10 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 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?

RNA helicase MTR4 drives tumorigenesis of nasopharyngeal carcinoma by regulating the expression of key cell cycle genes.
Title: RNA helicase MTR4 drives tumorigenesis of nasopharyngeal carcinoma by regulating the expression of key cell cycle genes.
MTR4 adaptor PICT1 functions in two distinct steps during pre-rRNA processing.
Title: MTR4 adaptor PICT1 functions in two distinct steps during pre-rRNA processing.
Mtr4 RNA helicase structures and interactions.
Title: Mtr4 RNA helicase structures and interactions.
Interactome analysis of the Tudor domain-containing protein SPF30 which associates with the MTR4-exosome RNA-decay machinery under the regulation of AAA-ATPase NVL2.
Title: Interactome analysis of the Tudor domain-containing protein SPF30 which associates with the MTR4-exosome RNA-decay machinery under the regulation of AAA-ATPase NVL2.
Exploration of Salmonella effector mutant strains on MTR4 and RRP6 degradation.
Title: Exploration of Salmonella effector mutant strains on MTR4 and RRP6 degradation.
Mapping domains of ARS2 critical for its RNA decay capacity.
Title: Mapping domains of ARS2 critical for its RNA decay capacity.
MTR4 is required for the tumorigenesis of the hepatocellular carcinoma cells.MTR4 is a mediator of the functions of c-Myc in cancer metabolism.MTR4 drives cancer metabolism by ensuring correct alternative splicing of pre-mRNAs of critical glycolytic genes such as GLUT1 and PKM2.
Title: MTR4 drives liver tumorigenesis by promoting cancer metabolic switch through alternative splicing.
Data show that the nuclear exosome adaptors nuclear valosin-containing protein-like (NVL) and zinc finger, CCHC domain containing 8 protein (ZCCHC8) bind the Mtr4 exosome RNA helicase (MTR4) KOW domain on a surface.
Title: The MTR4 helicase recruits nuclear adaptors of the human RNA exosome using distinct arch-interacting motifs.
NRDE2 interacts with MTR4's key residues, locks MTR4 in a closed conformation, and inhibits MTR4 interaction with the exosome as well as proteins important for MTR4 recruitment
Title: NRDE2 negatively regulates exosome functions by inhibiting MTR4 recruitment and exosome interaction.
The cryo-EM structure of the holo-complex shows how obligate nuclear cofactors position the hMTR4 helicase at the entrance of the core complex, suggesting a striking structural conservation from lower to higher eukaryotes.
Title: Distinct and evolutionary conserved structural features of the human nuclear exosome complex.

Submit: New GeneRIF Correction See all GeneRIFs (18)

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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Rev	rev	HIV-1 Rev interacting protein, superkiller viralicidic activity 2-like 2 (SKIV2L2), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells	PubMed

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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

G64173 (e-PCR)
- UniSTS:146725

WI-15758 (e-PCR)
- UniSTS:63537

RH99030 (e-PCR)
- UniSTS:84536

RH76135 (e-PCR)
- UniSTS:88920

D20S536E (e-PCR)
- UniSTS:150764

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IDA Inferred from Direct Assay more info	PubMed
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables RNA binding	HDA more info	PubMed
enables RNA helicase activity	IBA Inferred from Biological aspect of Ancestor more info
enables RNA helicase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA damage response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in RNA catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in RNA catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in mRNA splicing, via spliceosome	IC Inferred by Curator more info	PubMed
involved_in maturation of 5.8S rRNA	IBA Inferred from Biological aspect of Ancestor more info
involved_in maturation of 5.8S rRNA	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in rRNA processing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in snRNA catabolic process	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of TRAMP complex	IBA Inferred from Biological aspect of Ancestor more info
part_of TRAMP complex	IDA Inferred from Direct Assay more info	PubMed
part_of catalytic step 2 spliceosome	IDA Inferred from Direct Assay more info	PubMed
part_of exosome (RNase complex)	IDA Inferred from Direct Assay more info	PubMed
part_of nuclear exosome (RNase complex)	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear speck	IEA Inferred from Electronic Annotation more info
located_in nucleolus	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: exosome RNA helicase MTR4

Names: ATP-dependent RNA helicase DOB1; ATP-dependent RNA helicase SKIV2L2; ATP-dependent helicase SKIV2L2; Ski2 like RNA helicase 2; TRAMP-like complex helicase; functional spliceosome-associated protein 118; superkiller viralicidic activity 2-like 2

NP_056175.3

EC 3.6.4.13

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_015360.5 → NP_056175.3 exosome RNA helicase MTR4

See identical proteins and their annotated locations for NP_056175.3

Status: VALIDATED

Source sequence(s)

BC065258, BX640789

Consensus CDS

CCDS3967.1

UniProtKB/Swiss-Prot

P42285, Q2M386, Q6MZZ8, Q6P170, Q8N5R0, Q8TAG2

UniProtKB/TrEMBL

A8K6I4

Related

ENSP00000230640.5, ENST00000230640.10

Conserved Domains (5) summary

COG4581
Location:68 → 1042

Dob10; Superfamily II RNA helicase [Replication, recombination and repair]

cd00079
Location:374 → 538

HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...

pfam00270
Location:144 → 287

DEAD; DEAD/DEAH box helicase

pfam08148
Location:868 → 1035

DSHCT; DSHCT (NUC185) domain

pfam13234
Location:584 → 840

rRNA_proc-arch; rRNA-processing arch domain