THOC6 - THO complex subunit 6 Gene

Also Known as WDR58; fSAP35

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 79228

About THOC6

Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38): 16:3,024,035-3,027,750 (from NCBI)

This gene has 10 transcripts (splice variants), 186 orthologues and is associated with 3 phenotypes. Ubiquitous expression in placenta (RPKM 12.6), skin (RPKM 10.4) and 25 other tissues.

Summary

This gene encodes a subunit of the multi-protein THO complex, which is involved in coordination between transcription and mRNA processing. The THO complex is a component of the TREX (transcription/export) complex, which is involved in transcription and export of mRNAs. A missense mutation in this gene is associated with a neurodevelopmental disorder called Beaulieu-Boycott-Innes syndrome. [provided by RefSeq, Dec 2016]

THOC6 Products (4)

mRNA Protein Name
NM_001142350.3 NP_001135822.1 THO complex subunit 6 homolog isoform 2
NM_001347703.2 NP_001334632.1 THO complex subunit 6 homolog isoform 3
NM_001347704.2 NP_001334633.1 THO complex subunit 6 homolog isoform 1
NM_024339.5 NP_077315.2 THO complex subunit 6 homolog isoform 1

Gene Ontology

  • Biological Process
  • Cellular Component
Biological Process GO Annotation Evidence References Source
involved in central nervous system development IMP
IMP: Inferred from mutant phenotype
23621916 GOA
involved in mRNA export from nucleus IDA
IDA: Inferred from direct assay
17190602 GOA
Cellular Component GO Annotation Evidence References Source
part of THO complex IDA
IDA: Inferred from direct assay
15998806 GOA
part of THO complex part of transcription export complex IDA
IDA: Inferred from direct assay
15998806 GOA
colocalizes with chromosome, telomeric region IDA
IDA: Inferred from direct assay
24270157 GOA
located in nucleus IDA
IDA: Inferred from direct assay
23621916 GOA
part of transcription export complex IDA
IDA: Inferred from direct assay
15833825 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

THOC6 Protein Structure

WD40

WD40: WD domain, G-beta repeat (159 - 196)

  • 0
  • 100
  • 200
  • 300
  • 341 a.a.
Protein Preferred Names Protein Names

THO complex subunit 6 homolog

  • THO complex 6

Related Diseases

Diseases Alias
Beaulieu-Boycott-Innes Syndrome

  • BBIS

  • Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome

  • Microcephaly, Mental Retardation, And Distinctive Facies, With Cardiac And Genitourinary Malformations
Locked-In Syndrome

  • Locked In Syndrome

  • Cerebromedullospinal Disconnection

  • Locked-In State

  • Quadriplegia
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-RS14495 THOC6 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Mus musculus THOC6 MGD MGI:2677480
Bos taurus THOC6 VGNC VGNC:35842
Macaca mulatta THOC6 VGNC VGNC:79703
Felis catus THOC6 VGNC VGNC:66168
Rattus norvegicus THOC6 RGD RGD:708553
Canis familiaris THOC6 VGNC VGNC:47352
Others THOC6 NCBI