Seroatlas · Human Serome Atlas

THOC6

THO complex subunit 6

Also known as: fSAP35, MGC2655, THOC6_HUMAN, WDR58

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q86W42
Gene: THOC6
Ensembl: ENSG00000131652
Chromosome: 16
Canonical length: 341 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Nuclear speckles

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

341 residues, UniProt reviewed canonical sequence.

>Q86W42|THOC6
     1  MERAVPLAVP LGQTEVFQAL QRLHMTIFSQ SVSPCGKFLA AGNNYGQIAI FSLSSALSSE
    61  AKEESKKPVV TFQAHDGPVY SMVSTDRHLL SAGDGEVKAW LWAEMLKKGC KELWRRQPPY
   121  RTSLEVPEIN ALLLVPKENS LILAGGDCQL HTMDLETGTF TRVLRGHTDY IHCLALRERS
   181  PEVLSGGEDG AVRLWDLRTA KEVQTIEVYK HEECSRPHNG RWIGCLATDS DWMVCGGGPA
   241  LTLWHLRSST PTTIFPIRAP QKHVTFYQDL ILSAGQGRCV NQWQLSGELK AQVPGSSPGL
   301  LSLSLNQQPA APECKVLTAA GNSCRVDVFT NLGYRAFSLS F

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against THOC6 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.24
Highest tissue expression: 25 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 25 nTPM
skin: 24 nTPM
bone marrow: 22 nTPM
spleen: 22 nTPM
liver: 21 nTPM
prostate: 21 nTPM

Single-cell type

migrating cytotrophoblasts: 152 nCPM
extravillous trophoblasts: 144 nCPM
cytotrophoblasts: 123 nCPM
syncytiotrophoblasts: 81 nCPM
esophageal basal cells: 76 nCPM
oocytes: 65 nCPM

Immune cell

myeloid DC: 89 nTPM
plasmacytoid DC: 75 nTPM
intermediate monocyte: 62 nTPM
classical monocyte: 61 nTPM
total PBMC: 45 nTPM
naive B-cell: 43 nTPM

Brain region

pons: 14 nTPM
medulla oblongata: 11 nTPM
thalamus: 11 nTPM
choroid plexus: 9.5 nTPM
cerebellum: 9.3 nTPM
white matter: 8.8 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about THOC6.

Disease | AllUniProt

Conditions THOC6 is implicated in, by any mechanism.

Beaulieu-Boycott-Innes syndrome (BBIS) MIM:613680

Disease | GeneticClinVar

25 pathogenic / likely-pathogenic of 141 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
Inborn genetic diseases
THOC6-related disorder
Intellectual disability
Dystonia, early-onset, and/or spastic paraplegia

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.67
gnomAD pLI: 0
gnomAD missense Z: -0.4
DepMap mean gene effect: -0.41
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

RNA binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of THOC6 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads THOC6 as an antibody target. Whether an autoantibody or antibody against THOC6 could matter depends on whether native THOC6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

THOC6 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label THOC6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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