• Gene id: 23517

Gene Summary

• Gene Symbol: MTREX   Gene   UCSC   Ensembl
• Aliases: Dob1, KIAA0052, Mtr4, SKIV2L2, fSAP118
• Gene name: Mtr4 exosome RNA helicase
• Alternate names: exosome RNA helicase MTR4, 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,
• Gene location: 5q11.2 (55307988: 55425578)     Exons: 27     NC_000005.10
• OMIM: 618122

Protein Summary

• Protein general information: P42285  
  • 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)
  • Length: 1042  
  • Mass: 117805
• Sequence:

  MADAFGDELFSVFEGDSTTAAGTKKDKEKDKGKWKGPPGSADKAGKRFDGKLQSESTNNGKNKRDVDFEGTDEPI
  FGKKPRIEESITEDLSLADLMPRVKVQSVETVEGCTHEVALPAEEDYLPLKPRVGKAAKEYPFILDAFQREAIQC
  VDNNQSVLVSAHTSAGKTVCAEYAIALALREKQRVIFTSPIKALSNQKYREMYEEFQDVGLMTGDVTINPTASCL
  VMTTEILRSMLYRGSEVMREVAWVIFDEIHYMRDSERGVVWEETIILLPDNVHYVFLSATIPNARQFAEWICHLH
  KQPCHVIYTDYRPTPLQHYIFPAGGDGLHLVVDENGDFREDNFNTAMQVLRDAGDLAKGDQKGRKGGTKGPSNVF
  KIVKMIMERNFQPVIIFSFSKKDCEAYALQMTKLDFNTDEEKKMVEEVFSNAIDCLSDEDKKLPQVEHVLPLLKR
  GIGIHHGGLLPILKETIEILFSEGLIKALFATETFAMGINMPARTVLFTNARKFDGKDFRWISSGEYIQMSGRAG
  RRGMDDRGIVILMVDEKMSPTIGKQLLKGSADPLNSAFHLTYNMVLNLLRVEEINPEYMLEKSFYQFQHYRAIPG
  VVEKVKNSEEQYNKIVIPNEESVVIYYKIRQQLAKLGKEIEEYIHKPKYCLPFLQPGRLVKVKNEGDDFGWGVVV
  NFSKKSNVKPNSGELDPLYVVEVLLRCSKESLKNSATEAAKPAKPDEKGEMQVVPVLVHLLSAISSVRLYIPKDL
  RPVDNRQSVLKSIQEVQKRFPDGIPLLDPIDDMGIQDQGLKKVIQKVEAFEHRMYSHPLHNDPNLETVYTLCEKK
  AQIAIDIKSAKRELKKARTVLQMDELKCRKRVLRRLGFATSSDVIEMKGRVACEISSADELLLTEMMFNGLFNDL
  SAEQATALLSCFVFQENSSEMPKLTEQLAGPLRQMQECAKRIAKVSAEAKLEIDEETYLSSFKPHLMDVVYTWAT
  GATFAHICKMTDVFEGSIIRCMRRLEELLRQMCQAAKAIGNTELENKFAEGITKIKRDIVFAASLYL

• Structural information:
  • Protein Domains: (148..30-)
    (/note="Helicase-ATP-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00541-)
    (405..57-)
    (/note="Helicase-C-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00542"-)
  • Interpro: IPR011545  IPR014001  IPR001650  IPR027417  IPR025696   IPR016438  IPR012961  
  • Prosite: PS51192 PS51194
  • PDB: 6C90 6D6Q 6D6R 6IEG 6IEH 6RO1
  • PDBsum: 6C90 6D6Q 6D6R 6IEG 6IEH 6RO1
  • STRING: ENSP00000230640
• Other Databases: GeneCards:  MTREX  Malacards:  MTREX

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000460	maturation of 5.8S rRNA	IBA	biological process
GO:0006401	RNA catabolic process	IBA	biological process
GO:0003724	RNA helicase activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0071013	catalytic step 2 spliceosome	IDA	cellular component
GO:0000398	mRNA splicing, via spliceosome	IC	biological process
GO:0000178	exosome (RNase complex)	IDA	colocalizes with
GO:0005634	nucleus	IDA	cellular component
GO:0000176	nuclear exosome (RNase complex)	IDA	colocalizes with
GO:0006401	RNA catabolic process	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0003724	RNA helicase activity	IDA	molecular function
GO:0031499	TRAMP complex	IDA	cellular component
GO:0005524	ATP binding	IDA	molecular function
GO:0003724	RNA helicase activity	IDA	molecular function
GO:0005524	ATP binding	IDA	molecular function
GO:0000460	maturation of 5.8S rRNA	IMP	biological process
GO:0016076	snRNA catabolic process	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006364	rRNA processing	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0006401	RNA catabolic process	IEA	biological process
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0003724	RNA helicase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0004386	helicase activity	IEA	molecular function
GO:0005681	spliceosomal complex	IEA	cellular component
GO:0006364	rRNA processing	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0008380	RNA splicing	IEA	biological process
GO:0006397	mRNA processing	IEA	biological process
GO:0003724	RNA helicase activity	IEA	molecular function
GO:0006364	rRNA processing	TAS	biological process
GO:0000398	mRNA splicing, via spliceosome	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005730	nucleolus	IEA	cellular component
GO:0005654	nucleoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016607	nuclear speck	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa03018	RNA degradation

Diseases

Associated diseases	References
Amyotrophic lateral sclerosis	PMID:23006766
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq