1. Gene
  2. MTREX - Mtr4 exosome RNA helicase Gene

MTREX - Mtr4 exosome RNA helicase Gene

Homo sapiens

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

Gene ID: 23517 | Gene type: protein coding

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

MTREX Protein Structure

DEAD

DEAD: DEAD/DEAH box helicase (143 - 287)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (453 - 528)

rRNA_proc-arch

rRNA_proc-arch: rRNA-processing arch domain (582 - 842)

DSHCT

DSHCT: DSHCT (NUC185) domain (866 - 1042)

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  • 1042 a.a.
Protein Preferred Names Protein Names

exosome RNA helicase MTR4

ATP-dependent RNA helicase DOB1

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

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