TBL1XR1 - TBL1X/Y related 1 Gene

Homo sapiens

Also known as C21; DC42; IRA1; MRD41; TBLR1

Gene ID: 79718 | Gene type: protein coding

About TBL1XR1

Cytogenetic location: 3q26.32 Genomic coordinates (GRCh38): 3:177,019,344-177,201,800 (from NCBI)

This gene has 39 transcripts (splice variants), 365 orthologues, 2 paralogues and is associated with 86 phenotypes. Ubiquitous expression in thyroid (RPKM 21.1), prostate (RPKM 13.2) and 25 other tissues.

Summary

This gene is a member of the WD40 repeat-containing gene family and shares sequence similarity with transducin (beta)-like 1X-linked (TBL1X). The protein encoded by this gene is thought to be a component of both nuclear receptor corepressor (N-CoR) and histone deacetylase 3 (HDAC 3) complexes, and is required for transcriptional activation by a variety of transcription factors. Mutations in these gene have been associated with some autism spectrum disorders, and one finding suggests that haploinsufficiency of this gene may be a cause of intellectual disability with dysmorphism. Mutations in this gene as well as recurrent translocations involving this gene have also been observed in some tumors. [provided by RefSeq, Mar 2016]

TBL1XR1 Products(8)

mRNA	Protein	Name
NM_001321193.3	NP_001308122.1	F-box-like/WD repeat-containing protein TBL1XR1 isoform 1
NM_001321194.3	NP_001308123.1	F-box-like/WD repeat-containing protein TBL1XR1 isoform 1
NM_001321195.3	NP_001308124.1	F-box-like/WD repeat-containing protein TBL1XR1 isoform 2
NM_001374327.1	NP_001361256.1	F-box-like/WD repeat-containing protein TBL1XR1 isoform 1
NM_001374328.1	NP_001361257.1	F-box-like/WD repeat-containing protein TBL1XR1 isoform 1
NM_001374329.1	NP_001361258.1	F-box-like/WD repeat-containing protein TBL1XR1 isoform 1
NM_001374330.1	NP_001361259.1	F-box-like/WD repeat-containing protein TBL1XR1 isoform 2
NM_024665.7	NP_078941.2	F-box-like/WD repeat-containing protein TBL1XR1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables beta-catenin binding	IPI IPI: Inferred from physical interaction	18193033	GOA
enables histone binding	IDA IDA: Inferred from direct assay	15601853	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12628926	GOA
enables transcription cis-regulatory region binding	IDA IDA: Inferred from direct assay	18193033	GOA
enables transcription corepressor activity	IDA IDA: Inferred from direct assay	12628926	GOA
enables transcription corepressor activity	IGI IGI: Inferred from genetic interaction	15601853	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in negative regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	12628926	GOA
involved in positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	18193033	GOA
involved in positive regulation of canonical Wnt signaling pathway	IMP IMP: Inferred from mutant phenotype	18193033	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	18193033	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of histone deacetylase complex	IDA IDA: Inferred from direct assay	18326024	GOA
located in mitotic spindle	IDA IDA: Inferred from direct assay	18326024	GOA
located in nucleus	IDA IDA: Inferred from direct assay	18193033	GOA
part of transcription repressor complex	IDA IDA: Inferred from direct assay	12628926	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TBL1XR1 Protein Structure

LisH

WD40

0
100
200
300
400
514 a.a.

Protein Preferred Names

Protein Names

F-box-like/WD repeat-containing protein TBL1XR1

TBL1-related protein 1

Related Diseases

Diseases

Alias

Pierpont Syndrome

Plantar Lipomatosis, Unusual Facies, And Developmental Delay	PRPTS
Plantar Lipomatosis-Facial Dysmorphism-Developmental Delay Syndrome	Plantar Lipomatosis-Unusual Facies-Developmental Delay Syndrome

Intellectual Developmental Disorder, Autosomal Dominant 41

MRD41	Autosomal Dominant Non-Syndromic Intellectual Disability 41
Mental Retardation, Autosomal Dominant 41	Autosomal Dominant Intellectual Developmental Disorder 41
Autosomal Dominant Mental Retardation 41	Mental Retardation, Autosomal Dominant, Type 41

Acute Promyelocytic Leukemia

Leukemia, Acute Promyelocytic	Acute Myeloblastic Leukemia Type 3
Aml M3	APL
Leukemia, Acute Promyelocytic, Somatic	Aml With T(15
17)(Q22	Q12)
(Pml/Raralpha) And Variants	Apml
Acute Myeloblastic Leukemia 3	Acute Myeloid Leukemia With T(15
17)(Q22	Q12)
(Pml/Raralpha) And Variants	Acute Myeloblastic Leukaemia Type 3
Acute Myeloid Leukaemia M3	Acute Myeloid Leukemia M3
Acute Promyelocytic Leukaemia	M3 Anll
Myeloid Leukemia, Acute, M3	Leukemia Promyelocytic Acute
Leukemia, Promyelocytic, Acute	Leukemia, Acute, Promyelocytic

Learning Disability

Learning Disabilities	Learning Disorders
Academic Skill Disorder	Learning Disorder

Rett Syndrome

Atypical Rett Syndrome	RTT
Rett Disorder	Rts
Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use	Rett Syndrome, Preserved Speech Variant
Rett Syndrome, Atypical	Rett'S Disorder
Rett Syndrome Variant	Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome
Cerebroatrophic Hyperammonemia	Rett Like Syndrome
Rett'S Syndrome	Atypical Rtt
Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use	Rett Syndrome Preserved Speech Variant
Rett Syndrome Zappella Variant	Rett Syndrome, Zappella Variant

Tremor, Hereditary Essential, 2

ETM2	Essential Tremor 2
Essential Tremor, Hereditary, 2	Hereditary Essential Tremor 2
Tremor Hereditary Essential, 2

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

Testicular Lymphoma

Malignant Lymphoma Of Testis

Lymphoma Of The Testis

Central Nervous System Hematologic Cancer

Cns Hematopoietic Tumor	Hematopoietic Neoplasm Of Central Nervous System
Central Nervous System Hematopoietic Neoplasm

Central Nervous System Lymphoma

Microglioma	Primary Cns Lymphoma
Cns Lymphoma	Primary Central Nervous System Lymphoma

Joubert Syndrome 7

JBTS7	Cerebello-Oculo-Renal Syndrome 3
Cors3	Joubert Syndrome, Type 7

Lissencephaly

Pachygyria	Broad Gyri Of Cerebrum
Large Gyri Of Cerebrum	Macrogyria

West Syndrome

Infantile Spasms	Infantile Spasms Syndrome
Infantile Spasm	X-Linked Infantile Spasm Syndrome
X-Linked Infantile Spasms	Epileptic Encephalopathy, Early Infantile, 1
Is	Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg
West'S Syndrome	Spasms, Infantile
Is -[Infantile Spasm]	Salaam Spasm
Salaam Tic

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14262	TBL1XR1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	TBL1XR1	VGNC	VGNC:83172
Mus musculus	TBL1XR1	MGD	MGI:2441730
Felis catus	TBL1XR1	VGNC	VGNC:96550
Canis familiaris	TBL1XR1	VGNC	VGNC:83111
Rattus norvegicus	TBL1XR1	RGD	RGD:1560053
Bos taurus	TBL1XR1	VGNC	VGNC:83112

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