MTREX (Mtr4 exosome RNA helicase)

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Gene Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 23517
• Gene name: Mtr4 exosome RNA helicase
• Gene symbol: MTREX
• Synonyms (NCBI Gene): Dob1, KIAA0052, Mtr4, SKIV2L2, fSAP118
• Chromosome: 5
• Chromosome location: 5q11.2

Gene ontology (GO) Show/Hide all (39)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000176	Component	Nuclear exosome (RNase complex)	IDA	26166824
GO:0000178	Component	Exosome (RNase complex)	IDA	11719186
GO:0000398	Process	MRNA splicing, via spliceosome	IC	11991638
GO:0000460	Process	Maturation of 5.8S rRNA	IBA
GO:0000460	Process	Maturation of 5.8S rRNA	IMP	17412707
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	HDA	22658674
GO:0003723	Function	RNA binding	IEA
GO:0003724	Function	RNA helicase activity	IBA
GO:0003724	Function	RNA helicase activity	IDA	29844170, 29906447
GO:0003724	Function	RNA helicase activity	IEA
GO:0004386	Function	Helicase activity	IEA
GO:0005515	Function	Protein binding	IPI	15231747, 16263084, 16782053, 17412707, 26166824, 26456651, 27871484, 27905398, 29107693, 29844170, 29902117, 30538148, 30824372, 30842217, 31358741, 33961781
GO:0005524	Function	ATP binding	IDA	29844170, 31358741
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	16263084, 16782053
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005681	Component	Spliceosomal complex	IEA
GO:0005730	Component	Nucleolus	IEA
GO:0006364	Process	RRNA processing	IEA
GO:0006364	Process	RRNA processing	IMP	29107693
GO:0006397	Process	MRNA processing	IEA
GO:0006401	Process	RNA catabolic process	IBA
GO:0006401	Process	RNA catabolic process	IDA	29906447
GO:0006401	Process	RNA catabolic process	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0006974	Process	DNA damage response	IMP	29902117
GO:0008380	Process	RNA splicing	IEA
GO:0016076	Process	SnRNA catabolic process	ISS
GO:0016607	Component	Nuclear speck	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0031499	Component	TRAMP complex	IBA
GO:0031499	Component	TRAMP complex	IDA	21855801
GO:0071013	Component	Catalytic step 2 spliceosome	IDA	11991638

Other IDs

• MIM: 618122
• HGNC: 18734
• e!Ensembl: ENSG00000039123

Protein

• UniProt ID: P42285
• Protein name: Exosome RNA helicase MTR4 (EC 3.6.4.13) (ATP-dependent RNA helicase DOB1) (ATP-dependent RNA helicase SKIV2L2) (Superkiller viralicidic activity 2-like 2) (TRAMP-like complex helicase)
• Protein function: Catalyzes the ATP-dependent unwinding of RNA duplexes with a single-stranded 3' RNA extension (PubMed:27871484, PubMed:29844170, PubMed:29906447). Central subunit of many protein complexes, namely TRAMP-like, nuclear exosome targeting (NEXT) and
• PDB: 6C90 , 6D6Q , 6D6R , 6IEG , 6IEH , 6RO1 , 7S7B , 7S7C , 7Z4Y , 7Z4Z , 7Z52
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00270	DEAD	141 → 292	DEAD/DEAH box helicase	Domain
  PF00271	Helicase_C	373 → 528	Helicase conserved C-terminal domain	Family
  PF08148	DSHCT	867 → 1037	DSHCT (NUC185) domain	Domain
  PF13234	rRNA_proc-arch	582 → 841	rRNA-processing arch domain	Domain

• Sequence:

  MADAFGDELFSVFEGDSTTAAGTKKDKEKDKGKWKGPPGSADKAGKRFDGKLQSESTNNG
  KNKRDVDFEGTDEPIFGKKPRIEESITEDLSLADLMPRVKVQSVETVEGCTHEVALPAEE
  DYLPLKPRVGKAAKEYPFILDAFQREAIQCVDNNQSVLVSAHTSAGKTVCAEYAIALALR
  EKQRVIFTSPIKALSNQKYREMYEEFQDVGLMTGDVTINPTASCLVMTTEILRSMLYRGS
  EVMREVAWVIFDEIHYMRDSERGVVWEETIILLPDNVHYVFLSATIPNARQFAEWICHLH
  KQPCHVIYTDYRPTPLQHYIFPAGGDGLHLVVDENGDFREDNFNTAMQVLRDAGDLAKGD
  QKGRKGGTKGPSNVFKIVKMIMERNFQPVIIFSFSKKDCEAYALQMTKLDFNTDEEKKMV
  EEVFSNAIDCLSDEDKKLPQVEHVLPLLKRGIGIHHGGLLPILKETIEILFSEGLIKALF
  ATETFAMGINMPARTVLFTNARKFDGKDFRWISSGEYIQMSGRAGRRGMDDRGIVILMVD
  EKMSPTIGKQLLKGSADPLNSAFHLTYNMVLNLLRVEEINPEYMLEKSFYQFQHYRAIPG
  VVEKVKNSEEQYNKIVIPNEESVVIYYKIRQQLAKLGKEIEEYIHKPKYCLPFLQPGRLV
  KVKNEGDDFGWGVVVNFSKKSNVKPNSGELDPLYVVEVLLRCSKESLKNSATEAAKPAKP
  DEKGEMQVVPVLVHLLSAISSVRLYIPKDLRPVDNRQSVLKSIQEVQKRFPDGIPLLDPI
  DDMGIQDQGLKKVIQKVEAFEHRMYSHPLHNDPNLETVYTLCEKKAQIAIDIKSAKRELK
  KARTVLQMDELKCRKRVLRRLGFATSSDVIEMKGRVACEISSADELLLTEMMFNGLFNDL
  SAEQATALLSCFVFQENSSEMPKLTEQLAGPLRQMQECAKRIAKVSAEAKLEIDEETYLS
  SFKPHLMDVVYTWATGATFAHICKMTDVFEGSIIRCMRRLEELLRQMCQAAKAIGNTELE
  NKFAEGITKIKRDIVFAASLYL

• Sequence length: 1042

Pathways

KEGG Pathway	Reactome Pathway
RNA degradation	Major pathway of rRNA processing in the nucleolus and cytosol
	mRNA Splicing - Major Pathway

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Familial cancer of breast	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Marfanoid habitus and intellectual disability	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (8)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Amyotrophic lateral sclerosis 1	Amyotrophic lateral sclerosis	Pubtator	23006766	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	35777901	Associate	★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	10380373		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	10380373		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	35777901	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	34343137	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	8406614		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	38049665	Associate	★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

MPHOSPH6 2 shared pathwaysRNA degradation, Major pathway of rRNA processing in the nucleolus and cytosol Related via 2 shared pathways including RNA degradation, Major pathway of rRNA processing in the nucleolus and cytosol. C1D 2 shared pathwaysRNA degradation, Major pathway of rRNA processing in the nucleolus and cytosol Related via 2 shared pathways including RNA degradation, Major pathway of rRNA processing in the nucleolus and cytosol. EXOSC10 2 shared pathwaysRNA degradation, Major pathway of rRNA processing in the nucleolus and cytosol Related via 2 shared pathways including RNA degradation, Major pathway of rRNA processing in the nucleolus and cytosol. XRN2 2 shared pathwaysRNA degradation, Major pathway of rRNA processing in the nucleolus and cytosol Related via 2 shared pathways including RNA degradation, Major pathway of rRNA processing in the nucleolus and cytosol. LSM8 2 shared pathwaysRNA degradation, mRNA Splicing - Major Pathway Related via 2 shared pathways including RNA degradation, mRNA Splicing - Major Pathway.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
MPHOSPH6	0	[]	2	["RNA degradation","Major pathway of rRNA processing in the nucleolus and cytosol"]	0	[]
C1D	0	[]	2	["RNA degradation","Major pathway of rRNA processing in the nucleolus and cytosol"]	0	[]
EXOSC10	0	[]	2	["RNA degradation","Major pathway of rRNA processing in the nucleolus and cytosol"]	0	[]
XRN2	0	[]	2	["RNA degradation","Major pathway of rRNA processing in the nucleolus and cytosol"]	0	[]
LSM8	0	[]	2	["RNA degradation","mRNA Splicing - Major Pathway"]	0	[]

Diseases Linked via Similar Genes

Breast cancer Linked via 2 of 5 related genesMPHOSPH6, LSM8 Attention deficit hyperactivity disorder Linked via 2 of 5 related genesXRN2, LSM8 Insomnia Linked via 2 of 5 related genesXRN2, LSM8 Major depressive disorder Linked via 2 of 5 related genesXRN2, LSM8 Melanoma Linked via 1 of 5 related genesMPHOSPH6

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Breast cancer	2	["MPHOSPH6","LSM8"]
Attention deficit hyperactivity disorder	2	["XRN2","LSM8"]
Insomnia	2	["XRN2","LSM8"]
Major depressive disorder	2	["XRN2","LSM8"]
Melanoma	1	["MPHOSPH6"]