THOC6 THO complex subunit 6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: THOC6provided by HGNC
Official Full Name: THO complex subunit 6provided by HGNC
Primary source: HGNC:HGNC:28369
See related: Ensembl:ENSG00000131652 MIM:615403; AllianceGenome:HGNC:28369
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: WDR58; fSAP35; MMRFCGU
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]
Expression: Ubiquitous expression in placenta (RPKM 12.6), skin (RPKM 10.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16p13.3

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (3024035..3027750)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (3050607..3054322)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (3074036..3077751)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Biallelic THOC6 pathogenic variants: Prenatal phenotype and review of the literature.
Title: Biallelic THOC6 pathogenic variants: Prenatal phenotype and review of the literature.
Results indicate three unrelated patients with bi-allelic mutations in THOC6 associated with intellectual disability and additional clinical features.
Title: Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping.
In addition to confirming the morbid nature of THOC6 by providing an independent homozygous apparently loss of function allele in a patient with a compatible phenotype, our data also expand THOC6-related phenotype to include previously unreported imperforate anus and undescended testicles.
Title: Confirming the candidacy of THOC6 in the etiology of intellectual disability.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome MedGen: C3150939 OMIM: 613680 GeneReviews: THOC6 Intellectual Disability Syndrome	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of THO complex 6 homolog (THOC6) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Rev	rev	HIV-1 Rev interacting protein, THO complex 6 homolog (THOC6), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells. The interaction of Rev with THOC6 is decreased by RRE	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH67838 (e-PCR)
- UniSTS:41986

STS-T56712 (e-PCR)
- UniSTS:33040

RH41886 (e-PCR)
- UniSTS:25755

HCFC1R1_8058 (e-PCR)
- UniSTS:468454

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in RNA splicing	IEA Inferred from Electronic Annotation more info
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in central nervous system development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mRNA export from nucleus	IBA Inferred from Biological aspect of Ancestor more info
involved_in mRNA export from nucleus	IDA Inferred from Direct Assay more info	PubMed
involved_in mRNA processing	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of THO complex	IBA Inferred from Biological aspect of Ancestor more info
part_of THO complex	IDA Inferred from Direct Assay more info	PubMed
part_of THO complex part of transcription export complex	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with chromosome, telomeric region	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear body	IDA Inferred from Direct Assay more info
located_in nuclear speck	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of transcription export complex	IBA Inferred from Biological aspect of Ancestor more info
part_of transcription export complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: THO complex subunit 6 homolog

Names: THO complex 6; WD repeat domain 58; WD repeat-containing protein 58; functional spliceosome-associated protein 35

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_052595.1 RefSeqGene

Range

5017..8732

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001142350.3 → NP_001135822.1 THO complex subunit 6 homolog isoform 2

See identical proteins and their annotated locations for NP_001135822.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The encoded isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AC108134, AK075330, BM457458, BX425088

Consensus CDS

CCDS45392.1

UniProtKB/Swiss-Prot

Q86W42

Related

ENSP00000253952.9, ENST00000253952.9

Conserved Domains (3) summary

COG2319
Location:27 → 266

WD40; WD40 repeat [General function prediction only]

sd00039
Location:28 → 74

7WD40; WD40 repeat [structural motif]

cl02567
Location:31 → 265

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
NM_001347703.2 → NP_001334632.1 THO complex subunit 6 homolog isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' structure, resulting in the use of a downstream start codon compared to variant 1. The encoded isoform (3) has a shorter N-terminus compared to isoform 1

Source sequence(s)

BC003118, BM457458, BX425088

Consensus CDS

CCDS86500.1

UniProtKB/Swiss-Prot

Q86W42

Related

ENSP00000458295.1, ENST00000574549.5
NM_001347704.2 → NP_001334633.1 THO complex subunit 6 homolog isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1 and 4 encode trhe same isoform (1).

Source sequence(s)

AC108134, BM457458

Consensus CDS

CCDS10491.1

UniProtKB/Swiss-Prot

B2RA85, Q86W42, Q8NBR1, Q9BTV9

Conserved Domains (2) summary

sd00039
Location:28 → 74

7WD40; WD40 repeat [structural motif]

cl29593
Location:27 → 285

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
NM_024339.5 → NP_077315.2 THO complex subunit 6 homolog isoform 1

See identical proteins and their annotated locations for NP_077315.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). Variants 1 and 4 encode the same isoform.

Source sequence(s)

BC050674, BM457458, BX425088

Consensus CDS

CCDS10491.1

UniProtKB/Swiss-Prot

B2RA85, Q86W42, Q8NBR1, Q9BTV9

Related

ENSP00000326531.8, ENST00000326266.13

Conserved Domains (2) summary

sd00039
Location:28 → 74

7WD40; WD40 repeat [structural motif]

cl29593
Location:27 → 285

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...