THOC6 - THO complex subunit 6 Gene

Homo sapiens

Also known as WDR58; fSAP35

Gene ID: 79228 | Gene type: protein coding

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	Reference	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	Reference	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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14495	THOC6 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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