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Relevance to Autism

Genetic association has been found between the TBL1X gene and males with ASD in the HIHG/CHGR, AGRE and ACC cohorts (Chung et al., 2011).

Molecular Function

This is an F-box-like protein involved in the recruitment of the ubiquitin/19S proteasome complex to nuclear receptor-regulated transcription units. It plays an essential role in transcription activation mediated by nuclear receptors. Probably acts as integral component of corepressor complexes that mediates the recruitment of the 19S proteasome complex, leading to the subsequent proteasomal degradation of transcription repressor complexes, thereby allowing cofactor exchange.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males.
ASD

Rare

No Rare Variants Available

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN301C001 
 intron_variant 
 rs17321050 
 c.-43+4699T>G;c.-51+4699T>G 
 G/T 
 HIHG/CHGR, AGRE, ACC 
 Discovery 
 GEN301C002 
 intron_variant 
 rs5934665 
 c.-43+2050G>A;c.-51+2050G>A 
  
 ACC 
 Discovery 
 GEN301C003 
 intron_variant 
 rs2188766 
 c.-43+6339G>A;c.-51+6339G>A 
 C/T 
 ACC 
 Discovery 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
X
Deletion-Duplication
 1
 
X
Duplication
 2
 
X
Deletion
 1
 
X
Deletion
 4
 
X
Deletion-Duplication
 1
 
X
Deletion
 1
 
X
Duplication
 1
 
X
Duplication
 1
 
X
Deletion
 2
 
X
Deletion
 1
 
X
Duplication
 4
 
X
Duplication
 5
 
X
Deletion
 1
 
X
Deletion-Duplication
 18
 

No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
C20orf11 GID complex subunit 8 homolog (S. cerevisiae) 54994 Q9NWU2 LC-MS/MS
Havugimana PC , et al. 2012
C6ORF141 chromosome 6 open reading frame 141 135398 Q5SZD1 IP; LC-MS/MS
Huttlin EL , et al. 2015
CHD8 chromodomain helicase DNA binding protein 8 57680 Q9HCK8 ChIP-chip
Subtil-Rodrguez A , et al. 2013
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa 1499 Q9WU82 ChIP; IP/WB
Li J and Wang CY 2008
DLX3 distal-less homeobox 3 1747 O60479 Y2H
Wang J , et al. 2011
DNAJB4 DnaJ (Hsp40) homolog, subfamily B, member 4 11080 Q9UDY4 Y2H
Wang J , et al. 2011
ELAVL1 ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R) 1994 Q15717 RNP IP
Abdelmohsen K , et al. 2009
FKBP6 FK506 binding protein 6, 36kDa 8468 O75344 IP; LC-MS/MS
Huttlin EL , et al. 2015
FMR1 fragile X mental retardation 1 2332 G8JLE9 PAR-CLIP
Ascano M Jr , et al. 2012
GPS2 G protein pathway suppressor 2 2874 Q13227 IP; LC-MS/MS
Huttlin EL , et al. 2015
HAO2 Hydroxyacid oxidase 2 51179 Q9NYQ3 IP; LC-MS/MS
Huttlin EL , et al. 2015
HDAC3 Histone deacetylase 3 8841 O15379 LC-MS/MS
Joshi P , et al. 2013
HDAC5 Histone deacetylase 5 10014 Q9UQL6 LC-MS/MS
Joshi P , et al. 2013
HDAC7 histone deacetylase 7 51564 Q8WUI4 LC-MS/MS
Joshi P , et al. 2013
HP "Haptoglobin alpha chain" 3240 P00738 Y2H
Wang J , et al. 2011
HR hair growth associated 55806 O43593 M2H
Ravasi T , et al. 2010
HUWE1 HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 10075 Q7Z6Z7 LC-MS/MS
Havugimana PC , et al. 2012
IL17RA interleukin 17 receptor A 23765 Q96F46 IP; LC-MS/MS
Huttlin EL , et al. 2015
KHDRBS1 KH domain containing, RNA binding, signal transduction associated 1 10657 Q07666 Y2H
Wang J , et al. 2011
KLHDC3 kelch domain containing 3 116138 Q9BQ90 IP; LC-MS/MS
Huttlin EL , et al. 2015
LRRC36 leucine rich repeat containing 36 55282 B7Z4G3 IP; LC-MS/MS
Huttlin EL , et al. 2015
MKX Homeobox protein Mohawk 283078 Q8IYA7 IP; LC-MS/MS
Huttlin EL , et al. 2015
SERPINB2 Plasminogen activator inhibitor 2 5055 P05120 IP; LC-MS/MS
Huttlin EL , et al. 2015
SNRNP40 small nuclear ribonucleoprotein 40kDa (U5) 9410 A0MNP2 LC-MS/MS
Havugimana PC , et al. 2012
TBL1XR1 transducin (beta)-like 1 X-linked receptor 1 79718 Q9BZK7 IP; MS
Bantscheff M , et al. 2011
TBL1Y F-box-like/WD repeat-containing protein TBL1Y 90665 Q9BQ87 IP; LC-MS/MS
Huttlin EL , et al. 2015
TKT transketolase 7086 P29401 IP; LC-MS/MS
Huttlin EL , et al. 2015
TSC22D4 TSC22 domain family, member 4 81628 Q9Y3Q8 IP; LC-MS/MS
Huttlin EL , et al. 2015
WDR59 WD repeat-containing protein 59 79726 Q6PJI9 IP; LC-MS/MS
Huttlin EL , et al. 2015

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