MTREX - Mtr4 exosome RNA helicase Gene

Also Known as Dob1; Mtr4; SKIV2L2; fSAP118; KIAA0052

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23517

About MTREX

Cytogenetic location: 5q11.2 Genomic coordinates (GRCh38): 5:55,307,989-55,425,579 (from NCBI)

This gene has 9 transcripts (splice variants), 211 orthologues and 8 paralogues. Ubiquitous expression in prostate (RPKM 29.9), gall bladder (RPKM 23.3) and 25 other tissues.

Summary

Enables ATP binding activity and RNA helicase activity. Involved in RNA catabolic process; cellular response to DNA damage stimulus; and maturation of 5.8S rRNA. Located in nucleoplasm. Part of TRAMP complex and catalytic step 2 spliceosome. Colocalizes with nuclear exosome (RNase complex). Biomarker of amyotrophic lateral sclerosis. [provided by Alliance of Genome Resources, Apr 2022]

MTREX Products (1)

mRNA	Protein	Name
NM_015360.5	NP_056175.3	exosome RNA helicase MTR4

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables ATP binding	IDA IDA: Inferred from direct assay	29844170	GOA
enables RNA helicase activity	IDA IDA: Inferred from direct assay	29844170	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15231747	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in DNA damage response	IMP IMP: Inferred from mutant phenotype	29902117	GOA
involved in RNA catabolic process	IDA IDA: Inferred from direct assay	29906447	GOA
involved in maturation of 5.8S rRNA	IMP IMP: Inferred from mutant phenotype	17412707	GOA
involved in rRNA processing	IMP IMP: Inferred from mutant phenotype	29107693	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of TRAMP complex	IDA IDA: Inferred from direct assay	21855801	GOA
part of catalytic step 2 spliceosome	IDA IDA: Inferred from direct assay	11991638	GOA
part of exosome (RNase complex)	IDA IDA: Inferred from direct assay	11719186	GOA
part of nuclear exosome (RNase complex)	IDA IDA: Inferred from direct assay	26166824	GOA
located in nucleus	IDA IDA: Inferred from direct assay	16263084	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MTREX Protein Structure

DEAD

Helicase_C

rRNA_proc-arch

DSHCT

0
200
400
600
800
1042 a.a.

Protein Preferred Names	Protein Names
exosome RNA helicase MTR4	ATP-dependent RNA helicase DOB1

MTREX Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	MTREX	P42285	MPHOSPH6	Homo sapiens	Q99547	Pull Down	17412707

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Trichohepatoenteric Syndrome 1	Trichohepatoenteric Syndrome Syndromic Diarrhea Tricho-Hepato-Enteric Syndrome Sd/The Syndromic Diarrhea/Tricho-Hepato-Enteric Syndrome THES1 Phenotypic Diarrhea Thes Phenotypic Diarrhea Of Infancy Diarrhea, Syndromic Diarrhea, Fatal Infantile, With Trichorrhexis Nodosa Intractable Diarrhea With Phenotypic Anomalies Syndromatic Diarrhea Fatal Infantile Diarrhea With Trichorrhexis Nodosa
Pontocerebellar Hypoplasia, Type 1c	PCH1C Hypomyelination With Spinal Muscular Atrophy And Cerebellar Hypoplasia Pontocerebellar Hypoplasia Type 1c Pontocerebellar Hypoplasia 1c Doid:0112334 Hypoplasia, Pontocerebellar, Type 1c
Trichohepatoenteric Syndrome 2	THES2
Perlman Syndrome	Nephroblastomatosis, Fetal Ascites, Macrosomia And Wilms Tumor PRLMNS Renal Hamartomas, Nephroblastomatosis, And Fetal Gigantism Nephroblastomatosis Fetal Ascites Macrosomia And Wilms Tumor Nephroblastomatosis, Fetal Ascites, Macrosomia, And Wilms Tumor Nephroblastomatosis - Fetal Ascites - Macrosomia - Wilms Tumor Renal Hamartomas, Nephroblastomatosis And Fetal Gigantism Nephroblastomatosis-Fetal Ascites-Macrosomia-Wilms Tumor Syndrome Renal Hamartomas Nephroblastomatosis And Fetal Gigantism Nephroblastoma Fetal Macrosomia
Pontocerebellar Hypoplasia, Type 1e	Pontocerebellar Hypoplasia Type 1 PCH1E Norman Disease Pch1 Pontocerebellar Hypoplasia With Anterior Horn Cell Disease Pontocerebellar Hypoplasia With Infantile Spinal Muscular Atrophy Pontocerebellar Hypoplasia Type 1e Pontocerebellar Hypoplasia 1e Doid:0112322 Doid:0112330
Pontocerebellar Hypoplasia	Pch Congenital Pontocerebellar Hypoplasia Opch Hypoplasia, Pontocerebellar Pontoneocerebellar Hypoplasia Nonsyndromic Pontocerebellar Hypoplasia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08816	MTREX Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	MTREX	VGNC	VGNC:46201
Bos taurus	MTREX	VGNC	VGNC:34649
Macaca mulatta	MTREX	VGNC	VGNC:74989
Rattus norvegicus	MTREX	RGD	RGD:1305984
Felis catus	MTREX	VGNC	VGNC:63659
Mus musculus	MTREX	MGD	MGI:1919448
Others	MTREX	NCBI