U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 23517, updated on 14-Nov-2024

Summary

Go to the top of the page Help
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See MTREX in Genome Data Viewer
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_000005.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:54527615-54528254 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:54528255-54528894 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16013 Neighboring gene Sharpr-MPRA regulatory region 6084 Neighboring gene CCNO divergent transcript Neighboring gene cyclin O Neighboring gene DExH-box helicase 29 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22553 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22554 Neighboring gene uncharacterized LOC124900979 Neighboring gene protein serine kinase H1 pseudogene Neighboring gene uncharacterized LOC107986415 Neighboring gene uncharacterized LOC124900977 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16015 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:54733965-54734792 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:54737283-54737821 Neighboring gene phospholipid phosphatase 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:54797624-54798166 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:54798167-54798709 Neighboring gene microRNA 5687 Neighboring gene ring finger protein 138 pseudogene 1

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. MTR4 drives liver tumorigenesis by promoting cancer metabolic switch through alternative splicing. Yu L, et al. Nat Commun, 2020 Feb 5. PMID 32024842, Free PMC Article
  2. Mtr4 RNA helicase structures and interactions. Olsen KJ, et al. Biol Chem, 2021 Apr 27. PMID 33857361, Free PMC Article
  3. RNA helicase MTR4 drives tumorigenesis of nasopharyngeal carcinoma by regulating the expression of key cell cycle genes. Yu L, et al. Protein Cell, 2023 Mar 16. PMID 36929008, Free PMC Article
  4. MTR4 adaptor PICT1 functions in two distinct steps during pre-rRNA processing. Miyao S, et al. Biochem Biophys Res Commun, 2022 Dec 31. PMID 36403484
  5. NRDE-2, the human homolog of fission yeast Nrl1, prevents DNA damage accumulation in human cells. Richard P, et al. RNA Biol, 2018. PMID 29902117, Free PMC Article

See all (191) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. Mtr4 RNA helicase structures and interactions.
    Title: Mtr4 RNA helicase structures and interactions.
  4. 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.
  5. Exploration of Salmonella effector mutant strains on MTR4 and RRP6 degradation.
    Title: Exploration of Salmonella effector mutant strains on MTR4 and RRP6 degradation.
  6. Mapping domains of ARS2 critical for its RNA decay capacity.
    Title: Mapping domains of ARS2 critical for its RNA decay capacity.
  7. 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.
  8. 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.
  9. 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.
  10. 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

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

Go to the top of the page Help

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

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • MGC142069

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 ATP-dependent H2AZ histone chaperone activity IEA
Inferred from Electronic Annotation
more info
  
enables ATP-dependent H3-H4 histone complex chaperone activity IEA
Inferred from Electronic Annotation
more info
  
enables DNA clamp loader activity IEA
Inferred from Electronic Annotation
more info
  
enables RNA binding HDA 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 chromatin extrusion motor activity IEA
Inferred from Electronic Annotation
more info
  
enables cohesin loader activity IEA
Inferred from Electronic Annotation
more info
  
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 chromatin looping IEA
Inferred from Electronic Annotation
more info
  
involved_in chromatin remodeling IEA
Inferred from Electronic Annotation
more info
  
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

Go to the top of the page Help
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

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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_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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    55307989..55425579
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    56135296..56252888
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P42285.3 GenPept UniProtKB/Swiss-Prot:P42285

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous