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

    Gene ID: 23517, updated on 4-Jan-2025

    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, Jan 2025]
    Expression
    Ubiquitous expression in prostate (RPKM 29.9), gall bladder (RPKM 23.3) and 25 other tissues See more
    Orthologs
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    Genomic context

    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

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    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

    Interactions

    General gene information

    Clone Names

    • MGC142069

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding PubMed 
    enables ATP hydrolysis activity  
    enables ATP-dependent H2AZ histone chaperone activity  
    enables ATP-dependent H3-H4 histone complex chaperone activity  
    enables DNA clamp loader activity  
    enables RNA binding PubMed 
    enables RNA helicase activity  
    enables RNA helicase activity PubMed 
    enables chromatin extrusion motor activity  
    enables cohesin loader activity  
    enables protein binding PubMed 
    Process Evidence Code Pubs
    involved_in DNA damage response PubMed 
    involved_in RNA catabolic process  
    involved_in RNA catabolic process PubMed 
    involved_in chromatin looping  
    involved_in chromatin remodeling  
    involved_in mRNA splicing, via spliceosome PubMed 
    involved_in maturation of 5.8S rRNA  
    involved_in maturation of 5.8S rRNA PubMed 
    involved_in rRNA processing PubMed 
    involved_in snRNA catabolic process  
    Component Evidence Code Pubs
    part_of TRAMP complex  
    part_of TRAMP complex PubMed 
    part_of catalytic step 2 spliceosome PubMed 
    part_of exosome (RNase complex) PubMed 
    part_of nuclear exosome (RNase complex) PubMed 
    located_in nuclear speck  
    located_in nucleolus  
    located_in nucleoplasm  
    located_in nucleoplasm  
    located_in nucleus PubMed 

    General protein information

    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)

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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)

    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)
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