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Protein

THO complex subunit 6 homolog

Gene

THOC6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Acts as component of the THO subcomplex of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and which specifically associates with spliced mRNA and not with unspliced pre-mRNA. TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5' end of the mRNA where it functions in mRNA export to the cytoplasm via the TAP/NFX1 pathway. The TREX complex is essential for the export of Kaposi's sarcoma-associated herpesvirus (KSHV) intronless mRNAs and infectious virus production. Plays a role in apoptosis negative control involved in brain development.5 Publications

GO - Molecular functioni

GO - Biological processi

  • apoptotic process Source: UniProtKB-KW
  • central nervous system development Source: UniProtKB
  • mRNA 3'-end processing Source: Reactome
  • mRNA export from nucleus Source: UniProtKB
  • negative regulation of apoptotic process Source: UniProtKB
  • RNA export from nucleus Source: Reactome
  • RNA splicing Source: UniProtKB-KW
  • viral mRNA export from host cell nucleus Source: UniProtKB

Keywordsi

Molecular functionDevelopmental protein, RNA-binding
Biological processApoptosis, mRNA processing, mRNA splicing, mRNA transport, Transport

Enzyme and pathway databases

ReactomeiR-HSA-109688 Cleavage of Growing Transcript in the Termination Region
R-HSA-159236 Transport of Mature mRNA derived from an Intron-Containing Transcript
R-HSA-72187 mRNA 3'-end processing
SignaLinkiQ86W42

Names & Taxonomyi

Protein namesi
Recommended name:
THO complex subunit 6 homolog
Alternative name(s):
Functional spliceosome-associated protein 35
Short name:
fSAP35
WD repeat-containing protein 58
Gene namesi
Name:THOC6
Synonyms:WDR58
ORF Names:PSEC0006
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi

Organism-specific databases

EuPathDBiHostDB:ENSG00000131652.13
HGNCiHGNC:28369 THOC6
MIMi615403 gene
neXtProtiNX_Q86W42

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Beaulieu-Boycott-Innes syndrome (BBIS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive neurodevelopmental disorder characterized by delayed development, moderate intellectual disability, and dysmorphic facial features. Other developmental anomalies, such as cardiac and renal defects, may also occur.
See also OMIM:613680
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06977946G → R in BBIS; localizes to the cytoplasm and not to the nucleus. 1 PublicationCorresponds to variant dbSNP:rs587777030EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNETi79228
MalaCardsiTHOC6
MIMi613680 phenotype
OpenTargetsiENSG00000131652
Orphaneti363444 Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type
PharmGKBiPA142670592

Polymorphism and mutation databases

BioMutaiTHOC6
DMDMi74759455

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002331581 – 341THO complex subunit 6 homologAdd BLAST341

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei180PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ86W42
MaxQBiQ86W42
PaxDbiQ86W42
PeptideAtlasiQ86W42
PRIDEiQ86W42

PTM databases

iPTMnetiQ86W42
PhosphoSitePlusiQ86W42

Expressioni

Gene expression databases

BgeeiENSG00000131652
CleanExiHS_THOC6
GenevisibleiQ86W42 HS

Organism-specific databases

HPAiHPA052953

Interactioni

Subunit structurei

Component of the THO complex, which is composed of THOC1, THOC2, THOC3, THOC5, THOC6 and THOC7; together with at least ALYREF/THOC4, DDX39B, SARNP/CIP29 and CHTOP, THO forms the transcription/export (TREX) complex which seems to have a dynamic structure involving ATP-dependent remodeling.2 Publications

Protein-protein interaction databases

BioGridi122605, 43 interactors
CORUMiQ86W42
IntActiQ86W42, 18 interactors
MINTiQ86W42
STRINGi9606.ENSP00000326531

Structurei

3D structure databases

ProteinModelPortaliQ86W42
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati22 – 61WD 1Add BLAST40
Repeati74 – 112WD 2Add BLAST39
Repeati124 – 165WD 3Add BLAST42
Repeati166 – 205WD 4Add BLAST40
Repeati215 – 254WD 5Add BLAST40
Repeati256 – 293WD 6Add BLAST38
Repeati295 – 339WD 7Add BLAST45

Sequence similaritiesi

Belongs to the WD repeat THOC6 family.Curated

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiKOG0649 Eukaryota
ENOG410XTCD LUCA
GeneTreeiENSGT00390000015278
HOGENOMiHOG000008085
HOVERGENiHBG079643
InParanoidiQ86W42
KOiK13175
OMAiDWLLCGG
OrthoDBiEOG091G0JN9
PhylomeDBiQ86W42
TreeFamiTF324760

Family and domain databases

Gene3Di2.130.10.10, 1 hit
InterProiView protein in InterPro
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR019775 WD40_repeat_CS
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf
PfamiView protein in Pfam
PF00400 WD40, 1 hit
SMARTiView protein in SMART
SM00320 WD40, 3 hits
SUPFAMiSSF50978 SSF50978, 1 hit
PROSITEiView protein in PROSITE
PS00678 WD_REPEATS_1, 1 hit
PS50082 WD_REPEATS_2, 1 hit
PS50294 WD_REPEATS_REGION, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q86W42-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MERAVPLAVP LGQTEVFQAL QRLHMTIFSQ SVSPCGKFLA AGNNYGQIAI
60 70 80 90 100
FSLSSALSSE AKEESKKPVV TFQAHDGPVY SMVSTDRHLL SAGDGEVKAW
110 120 130 140 150
LWAEMLKKGC KELWRRQPPY RTSLEVPEIN ALLLVPKENS LILAGGDCQL
160 170 180 190 200
HTMDLETGTF TRVLRGHTDY IHCLALRERS PEVLSGGEDG AVRLWDLRTA
210 220 230 240 250
KEVQTIEVYK HEECSRPHNG RWIGCLATDS DWMVCGGGPA LTLWHLRSST
260 270 280 290 300
PTTIFPIRAP QKHVTFYQDL ILSAGQGRCV NQWQLSGELK AQVPGSSPGL
310 320 330 340
LSLSLNQQPA APECKVLTAA GNSCRVDVFT NLGYRAFSLS F
Length:341
Mass (Da):37,535
Last modified:June 1, 2003 - v1
Checksum:iE854A8959F245FA9
GO
Isoform 2 (identifier: Q86W42-2) [UniParc]FASTAAdd to basket
Also known as: hTREX40

The sequence of this isoform differs from the canonical sequence as follows:
     1-24: Missing.

Note: No experimental confirmation available.
Show »
Length:317
Mass (Da):34,849
Checksum:i1773CC1DBB1D65D9
GO
Isoform 3 (identifier: Q86W42-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     271-315: Missing.

Note: No experimental confirmation available.
Show »
Length:296
Mass (Da):32,891
Checksum:iC5B89BE0F3BC0B96
GO

Sequence cautioni

The sequence BAG36782 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti97V → E in BAC11552 (PubMed:14702039).Curated1
Sequence conflicti121R → S in BAG36782 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06977946G → R in BBIS; localizes to the cytoplasm and not to the nucleus. 1 PublicationCorresponds to variant dbSNP:rs587777030EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0180791 – 24Missing in isoform 2. 1 PublicationAdd BLAST24
Alternative sequenceiVSP_018078271 – 315Missing in isoform 3. 1 PublicationAdd BLAST45

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK075330 mRNA Translation: BAC11552.1
AK314086 mRNA Translation: BAG36782.1 Different initiation.
BC003118 mRNA Translation: AAH03118.1
BC050674 mRNA Translation: AAH50674.1
CCDSiCCDS10491.1 [Q86W42-1]
CCDS45392.1 [Q86W42-3]
RefSeqiNP_001135822.1, NM_001142350.2 [Q86W42-3]
NP_001334632.1, NM_001347703.1 [Q86W42-2]
NP_001334633.1, NM_001347704.1 [Q86W42-1]
NP_077315.2, NM_024339.4 [Q86W42-1]
UniGeneiHs.412304

Genome annotation databases

EnsembliENST00000253952; ENSP00000253952; ENSG00000131652 [Q86W42-3]
ENST00000326266; ENSP00000326531; ENSG00000131652 [Q86W42-1]
ENST00000574549; ENSP00000458295; ENSG00000131652 [Q86W42-2]
ENST00000575576; ENSP00000460015; ENSG00000131652 [Q86W42-2]
GeneIDi79228
KEGGihsa:79228
UCSCiuc002cta.2 human [Q86W42-1]

Keywords - Coding sequence diversityi

Alternative splicing

Entry informationi

Entry nameiTHOC6_HUMAN
AccessioniPrimary (citable) accession number: Q86W42
Secondary accession number(s): B2RA85, Q8NBR1, Q9BTV9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 2, 2006
Last sequence update: June 1, 2003
Last modified: May 23, 2018
This is version 137 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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