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FLASH GENE

Symbol

TBL1X

contributors: mct - updated : 01-09-2020

HGNC name	transducin (beta)-like 1X-linked
HGNC id	11585

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CHNG8 hypothyroidism, congenital, nongoitrous, 8 OASD albinism, ocular, with late-onset neurosensory deafness
Location	Xp22.3      Physical location : 9.431.334 - 9.687.779
Synonym name	EBI Drosophila homolog
Synonym symbol(s)	EBI, TBL1, SMAP55

DNA

TYPE	functioning gene
SPECIAL FEATURE
text	escaping X-inactivation
STRUCTURE	256.45 kb     18 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001139466 18 - 5596 NP_001132938 - 577 - 2000 10944117 NM_001139468 18 - 5586 NP_001132940 - 526 - 2000 10944117 NM_001139467 17 - 5451 NP_001132939 - 526 - 2000 10944117 NM_005647 18 - 5715 NP_005638 - 577 - 2000 10944117

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine parathyroid       highly Lymphoid/Immune lymph node       highly Reproductive female system uterus cervix   highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a LISH motif
	a tetrameric oligomerization domain, which interacts with both NCOR2 and GPS2
	six WD-40 repeats, (beta transducin domain) in the C terminal region

mono polymer

heteromer , trimer

HOMOLOGY

Homologene

FAMILY

WD repeat family

CATEGORY

regulatory , signaling

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
	intracellular,nucleus,nucleoplasm

basic FUNCTION	involved in the degradation of beta catenin protein in a novel ubiquitin-dependent degradation pathway
	playing an essential role in transcription activation mediated by nuclear receptors
	acting as a corepressor/coactivator exchanger for several nuclear receptors and transcription factors
	TBL1X and its highly related family member TBL1XR1 were required for Wnt-beta-catenin-mediated transcription
	is in the Wnt signaling pathway, which has previously been implicated as having a role in autism

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

signal transduction , sensory transduction/hearing , sensory transduction/vision

a component

core repression complex involves the recruitment of three proteins, HDAC3, GPS2 and TBL1X, to a highly conserved repression domain within NCOR2 and NCOR

INTERACTION

DNA

RNA

small molecule

protein

TBL1X interacts with both NCOR2 and GPS2

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

OASD , CHNG8

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS