TBL1XR1 - TBL1X/Y related 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 79718

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	References	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	References	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	References	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

TBL1XR1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	TBL1XR1	Q9BZK7	ARL2	Homo sapiens	P36404	Y2H Prey Pooling	25416956
Intra	TBL1XR1	Q9BZK7	ARL2	Homo sapiens	P36404	Y2H Array	31515488
Intra	TBL1XR1	Q9BZK7	ARL2	Homo sapiens	P36404	Validated Y2H	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

TBL1XR1 Antibodies

Cat. No.	상품명	신청	Reactivity
HY-P81311	TBLR1 Antibody (YA1052)	WB, IHC-F, IHC-P, ICC/IF	Human, Mouse
HY-P81311A	TBLR1 Antibody (YA1053)	WB, IHC-P, ICC/IF	Human, Mouse, Rat
HY-P81339	TBLR1 Antibody (YA1084)	WB, IHC-P, ICC/IF	Human, Monkey
HY-P81339A	TBLR1 Antibody (YA1084)(PBS only)	WB, IHC-P, ICC/IF	Human, Monkey
HY-P85472	TBLR1 Antibody (YA5164)	WB, IHC-P, ICC/IF	Human, Mouse, Rat, Bovine, Chicken, Dog, Pig, Zebrafish
HY-P85510	TBLR1 Antibody (YA5202)	WB, IHC-P, ICC/IF	Human, Mouse

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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	상품명	효과	Purity	Rare Diseases
HY-RS14262	TBL1XR1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20223	Tbl1xr1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26730	Tbl1xr1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	TBL1XR1	NCBI