Entity Details

Primary name TBL1R_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9BZK7
EntryNameTBL1R_HUMAN
FullNameF-box-like/WD repeat-containing protein TBL1XR1
TaxID9606
Evidenceevidence at protein level
Length514
SequenceStatuscomplete
DateCreated2002-09-19
DateModified2021-06-02

Ontological Relatives

GenesTBL1XR1

GO terms

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GOName
GO:0000118 histone deacetylase complex
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0000976 transcription cis-regulatory region binding
GO:0003714 transcription corepressor activity
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0006357 regulation of transcription by RNA polymerase II
GO:0006367 transcription initiation from RNA polymerase II promoter
GO:0008013 beta-catenin binding
GO:0016575 histone deacetylation
GO:0017053 transcription repressor complex
GO:0019216 regulation of lipid metabolic process
GO:0030522 intracellular receptor signaling pathway
GO:0042393 histone binding
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0047485 protein N-terminus binding
GO:0072686 mitotic spindle
GO:0090263 positive regulation of canonical Wnt signaling pathway

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR001680 WD40 repeatRepeatRepeat
IPR006594 LIS1 homology motifDomainDomain
IPR015943 WD40/YVTN repeat-like-containing domain superfamilyFamilyHomologous superfamily
IPR019775 WD40 repeat, conserved siteSiteConserved site
IPR020472 G-protein beta WD-40 repeatRepeatRepeat
IPR036322 WD40-repeat-containing domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
602342 OMIMPierpont syndrome (PRPTS)An autosomal dominant syndrome characterized by multiple congenital anomalies, global developmental delay, learning disability, palmar and plantar fat pads, and distinctive facial characteristics, especially when smiling. The disease is caused by variants affecting the gene represented in this entry.
616944 OMIMMental retardation, autosomal dominant 41 (MRD41)A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD41 patients manifest delayed psychomotor development, variable severity of intellectual disability, and delayed language. Non-specific dysmorphic features and autistic behavior is observed in some patients. The disease is caused by variants affecting the gene represented in this entry.

Interactions

32 interactions

InteractorPartnerSourcesPublicationsLink
TBL1R_HUMANTBL1X_HUMANBioGRID, HPRD, IntAct15601853 18202150 18374649 21258344 27880911 details
TBL1R_HUMANNCOR1_HUMANBioGRID, HPRD, IntAct11931768 12628926 14527417 15601853 18202150 21258344 28152507 28348241 28588275 details
TBL1R_HUMANARL2_HUMANBioGRID, IntAct25416956 31515488 details
TBL1R_HUMANFOXK2_HUMANBioGRID, MINT25609649 27773593 details
TBL1R_HUMANMECP2_HUMANBioGRID, DIP23770565 28348241 details
TBL1R_HUMANATX1_HUMANBioGRID, IntAct, UniProt25959826 32814053 details
TBL1R_HUMANIDLC_HUMANIntAct32814053 details
TBL1R_HUMANKLF11_HUMANIntAct32814053 details
TBL1R_HUMANSODC_HUMANIntAct32814053 details
TBL1R_HUMANH4_HUMANBioGRID, HPRD12628926 15601853 30804502 details
TBL1R_HUMANH2B2E_HUMANBioGRID, HPRD12628926 15601853 details
TBL1R_HUMANUBC9_HUMANBioGRID26369384 details
TBL1R_HUMANOGT1_HUMANBioGRID32994395 details
TBL1R_HUMANHDAC3_HUMANBioGRID, HPRD, IntAct11931768 16469706 18202150 21258344 23752268 28152507 details
TBL1R_HUMANGPS2_HUMANBioGRID, HPRD, IntAct11931768 21258344 26186194 28514442 details
TBL1R_HUMANHDAC5_HUMANBioGRID, IntAct21081666 23752268 details
TBL1R_HUMANESR1_HUMANBioGRID, IntAct16469706 23403292 31527615 details
TBL1R_HUMANUB2E3_HUMANBioGRID18202150 details
TBL1R_HUMANEMD_HUMANBioGRID17620012 details
TBL1R_HUMANTHA_HUMANBioGRID17242407 details
TBL1R_HUMANTHB_HUMANBioGRID17242407 details
TBL1R_HUMANBCL3_HUMANBioGRID20547759 details
TBL1R_HUMANSOX2_HUMANBioGRID21532573 details
TBL1R_HUMANUB2D1_HUMANBioGRID14980219 details
TBL1R_HUMANCTNB1_HUMANBioGRID18193033 28588275 details
TBL1R_HUMANTAB2_HUMANBioGRID16469706 details
TBL1R_HUMANANDR_HUMANBioGRID16469706 32814769 details
TBL1R_HUMANRARA_HUMANBioGRID16469706 details
TBL1R_HUMANSIR6_HUMANBioGRID24169447 details
TBL1R_HUMANUBP44_HUMANBioGRID27880911 32076268 details
TBL1R_HUMANTULP3_HUMANBioGRID33187986 details
TBL1R_HUMANCOR2A_HUMANHPRD12628926 details