TBL1X - transducin beta like 1 X-linked Gene

Homo sapiens

Also known as EBI; TBL1; CHNG8; SMAP55

Gene ID: 6907 | Gene type: protein coding

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

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14261	TBL1X Human Pre-designed siRNA Set A		/	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

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