TBL1X - transducin beta like 1 X-linked Gene

Also Known as EBI; TBL1; CHNG8; SMAP55

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6907

About TBL1X

Cytogenetic location: Xp22.31-p22.2 Genomic coordinates (GRCh38): X:9,463,295-9,719,740 (from NCBI)

This gene has 14 transcripts (splice variants), 137 orthologues, 2 paralogues and is associated with 1 phenotype. Ubiquitous expression in endometrium (RPKM 23.1), prostate (RPKM 12.2) and 24 other tissues.

Summary

The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. This encoded protein is found as a subunit in corepressor SMRT (silencing mediator for retinoid and thyroid receptors) complex along with histone deacetylase 3 protein. This gene is located adjacent to the ocular albinism gene and it is thought to be involved in the pathogenesis of the ocular albinism with late-onset sensorineural deafness phenotype. Four transcript variants encoding two different isoforms have been found for this gene. This gene is highly similar to the Y chromosome TBL1Y gene. [provided by RefSeq, Nov 2008]

TBL1X Products (4)

mRNA	Protein	Name
NM_001139466.1	NP_001132938.1	F-box-like/WD repeat-containing protein TBL1X isoform a
NM_001139467.1	NP_001132939.1	F-box-like/WD repeat-containing protein TBL1X isoform b
NM_001139468.1	NP_001132940.1	F-box-like/WD repeat-containing protein TBL1X isoform b
NM_005647.4	NP_005638.1	F-box-like/WD repeat-containing protein TBL1X isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Referencias	Source
enables histone binding	IDA IDA: Inferred from direct assay	15601853	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	21240272	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10809664	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	Referencias	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
involved in proteolysis	IMP IMP: Inferred from mutant phenotype	18374649	GOA
involved in sensory perception of sound	IMP IMP: Inferred from mutant phenotype	10330347	GOA

Cellular Component GO Annotation	Evidence	Referencias	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

TBL1X Protein Structure

LisH

WD40

0
100
200
300
400
500
577 a.a.

Protein Preferred Names	Protein Names
F-box-like/WD repeat-containing protein TBL1X	transducin beta like 1X-linked

TBL1X Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Referencias
Intra	TBL1X	O60907	ARL3	Homo sapiens	P36405	Validated Y2H	32296183
Intra	TBL1X	O60907	ARL3	Homo sapiens	P36405	Y2H Array	32296183
Intra	TBL1X	O60907	ARL3	Homo sapiens	P36405	Y2H Prey Pooling	32296183
Intra	TBL1X	O60907	TINF2	Homo sapiens	Q9BSI4	BiFC	21044950
Intra	TBL1X	O60907	TINF2	Homo sapiens	Q9BSI4	Pull Down	21044950

Cross: Cross-species interaction Intra: Intraspecies interaction

TBL1X Antibodies

Referencia número	Nombre del producto	Aplicación	Reactivity
HY-P81320	TBL1X Antibody (YA1065)	WB, ICC/IF	Human
HY-P81320A	TBL1X Antibody (YA1065)(PBS only)	WB, ICC/IF	Human
HY-P85383	TBL1X Antibody (YA5075)	WB, ELISA	Human, Monkey
HY-P85486	TBL1X Antibody (YA5178)	WB, ICC/IF	Human

Related Diseases

Diseases	Alias
Hypothyroidism, Congenital, Nongoitrous, 8	CHNG8 Congenital Nongoitrous Hypothyroidism 8 Hypothyroidism, Congenital, Non-Goitrous, 8 Hypothyroidism, Congenital, Nongoitrous, Type 8
Ocular Albinism	Albinism, Ocular Oa Xloa Albinism Ocular
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
Hypothyroidism	Thyroid Diseases Thyroid Disease Thyroid Deficiency Thyroid Insufficiency Dysfunction Thyroid Thyroid Dysfunction
Acute Gonococcal Prostatitis	Gonococcal Prostatitis
Febrile Seizures, Familial, 10	FEB10 Familial Febrile Seizures 10 Convulsions, Familial Febrile, 10 Familial Febrile Convulsions 10 Febrile Convulsions, Familial, 10
Spastic Paraplegia 84, Autosomal Recessive	SPG84 Hereditary Spastic Paraplegia 84 Spastic Paraplegia 84 Autosomal Recessive Doid:0112347
Spastic Paraplegia 85, Autosomal Recessive	SPG85 Hereditary Spastic Paraplegia 85 Spastic Paraplegia 85 Autosomal Recessive Doid:0112345
Spastic Paraplegia 86, Autosomal Recessive	SPG86 Hereditary Spastic Paraplegia 86 Spastic Paraplegia 86 Autosomal Recessive Doid:0112342
Cataract 9, Multiple Types	Cataract 9 Multiple Types CTRCT9 Cataract, Autosomal Dominant Catc1 Cataract 9, Multiple Types, With Or Without Microcornea Cataract, Autosomal Recessive Congenital 1 Autosomal Recessive Congenital Cataract 1 Cataract 9 Multiple Types With Or Without Microcornea Autosomal Dominant Congenital Cataract Cataract Autosomal Dominant Cataracts, Autosomal Dominant
Joubert Syndrome 6	JBTS6 Joubert Syndrome, Type 6
Leukodystrophy, Hypomyelinating, 3	Hypomyelinating Leukodystrophy 3 HLD3 Pelizaeus-Merzbacher-Like Disease Due To Aimp1 Mutation Leukodystrophy, Hypomyelinating 3 Perinatal Sudanophilic Leukodystrophy Leukodystrophy, Hypomyelinating, Type 3 Pelizaeus-Merzbacher-Like Disease, Autosomal Recessive, 2
Microcephaly And Chorioretinopathy 1
Epilepsy, Idiopathic Generalized 3	EIG3 Idiopathic Generalized Epilepsy 3 Epilepsy, Idiopathic Generalized, Susceptibility To, 3 Epilepsy, Idiopathic Generalized Locus On Chromosome 9 Epilepsy, Idiopathic Generalized, Susceptibility To, Locus On Chromosome 9 Epilepsy, Idiopathic Generalized, Susceptibility To 3
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Malt Worker'S Lung	Alveolitis Due To Aspergillus Clavatus Malt Worker Lung Malt Workers' Lung Malt-Workers' Lung Malt Fever Malt House Workers' Cough Malt-Workers' Alveolitis Malt-Workers' Lung Disease Alveolitis Due To Aspergillus Fumigatus Extrinsic Allergic Alveolitis Due To Aspergillus Spp
Non-Syndromic X-Linked Intellectual Disability 89	Mrx89
Spermatogenic Failure 24	SPGF24
Mental Retardation, X-Linked 92	MRX92 Intellectual Developmental Disorder, X-Linked 92 Non-Syndromic X-Linked Intellectual Disability 92 X-Linked Mental Retardation 92 Mental Retardation, X-Linked, Type 92
Rapp-Hodgkin Syndrome	RHS Anhidrotic Ectodermal Dysplasia With Cleft Lip/Palate Ectodermal Dysplasia, Rapp-Hodgkin Type Rapp-Hodgkin Ectodermal Dysplasia Syndrome Ectodermal Dysplasia, Anhidrotic, With Cleft Lip/Palate Ectodermal Dysplasia Syndrome, Rapp-Hodgkin Type Edrh Rapp-Hodgkin Ectodermal Dysplasia Orofacial Cleft 8
Lissencephaly	Pachygyria Broad Gyri Of Cerebrum Large Gyri Of Cerebrum Macrogyria
Ectodermal Dysplasia 5, Hair/Nail Type	ECTD5 Ectodermal Dysplasia 5
Ectodermal Dysplasia 6, Hair/Nail Type	ECTD6 Ectodermal Dysplasia 6
Ectodermal Dysplasia 7, Hair/Nail Type	ECTD7 Ectodermal Dysplasia 7 Dysplasia, Ectodermal, Type 7, Hair/Nail
Epilepsy, Idiopathic Generalized 2	EIG2 Epilepsy, Idiopathic Generalized, Susceptibility To, 2 Idiopathic Generalized Epilepsy 2 Epilepsy, Idiopathic Generalized Locus On Chromosome 14 Epilepsy, Idiopathic Generalized, Susceptibility To, Locus On Chromosome 14
Retinitis Pigmentosa 44	RP44 Retinitis Pigmentosa, Type 44
Phenylketonuria	Phenylalanine Hydroxylase Deficiency PKU Pah Deficiency Folling Disease Maternal Phenylketonuria Phenylketonurias Oligophrenia Phenylpyruvica Hyperphenylalaninemia, Non-Pku Mild Folling'S Disease Phenylalaninemia Mild Phenylketonuria Mild Pku Variant Pku Variant Phenylketonuria Mpku Deficiency Disease, Phenylalanine Hydroxylase Phenylketonuria, Maternal Phenylalanine Hydroxylase Deficiency Disease Hyperphenylalaninemic Embryopathy Maternal Pku Maternal Hyperphenylalaninemia Phenylketonuric Embryopathy Hyperphenylalaninemia HPA Non-Phenylketonuria Hyperphenylalaninemia NON-PKU HPA Phenylketonuria Maternal Classical Phenylketonuria Hyperphenylalaninaemia Pku - [Phenylketonuria]
Hereditary Spastic Paraplegia 51	Autosomal Dominant Spastic Paraplegia 51 Cpsq4 Spastic Quadriplegic Cerebral Palsy 4 Spg51 Spastic Paraplegia 51, Autosomal Recessive
Methylmalonic Aciduria, Cbla Type	Methylmalonic Acidemia Cbla Type Methylmalonic Aciduria Cbla Type Methylmalonic Acidemia, Cbla Type Methylmalonic Aciduria, Vitamin B12-Responsive, Due To Defect In Synthesis Of Adenosylcobalamin, Cbla Type Methylmalonic Aciduria, Vitamin B12-Responsive, Cbla Type Methylmalonic Aciduria, Vitamin B12-Responsive Due To A Defect In Synthesis Of Adenosylcobalamin Cb1a Type Vitamin B12-Responsive Methylmalonic Acidemia Type Cbla Vitamin B12-Responsive Methylmalonic Aciduria Type Cbla Methylmalonic Aciduria Type Cbla MMAA Methylmalonic Aciduria Type A Vitamin B12 Responsive Methylmalonic Acidemia Type Cbl A Vitamin B12 Responsive Methylmalonic Aciduria Type Cbl A Aciduria, Methylmalonic, Cbla Type Methylmalonic Aciduria Cbla Type
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal

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 (5)

Referencia número	Nombre del producto	Efecto	Pureza	Rare Diseases
HY-168190	PROTAC TBL1X degrader-1		/	Unkown
HY-RS14261	TBL1X Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-168191	TBL1X ligand 1		/	Unkown
HY-168192	Thalidomide-NH-C4-amide-C3-Br		/	Unkown
HY-168193	5-Amino-N-(3-bromopropyl)pentanamide		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	TBL1X	RGD	RGD:1563868
Mus musculus	TBL1X	MGD	MGI:1336172
Macaca mulatta	TBL1X	VGNC	VGNC:108172
Others	TBL1X	NCBI