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MGP003073

Record overview

MGPD IDMGP003073
Gene ID6907
SpeciesHomo sapiens (Human)
Gene Nametransducin (beta)-like 1X-linked
Gene Symbol TBL1X
SynonymsEBI; TBL1; SMAP55;
Alternate namesF-box-like/WD repeat-containing protein TBL1X; transducin beta-like protein 1X; transducin-beta-like protein 1, X-linked;
ChromosomeX
Map LocationXp22.3
SummaryThe 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]
OrthologsView orthologs and multiple alignments for TBL1X

Proteins

F-box-like/WD repeat-containing protein TBL1X isoform a
Refseq ID:NP_001132938
Protein GI:213021186
UniProt ID:O60907
mRNA ID:NM_001139466
Length:577
RefSeq Status:
MTELAGASSSCCHRPAGRGAMQSVLHHFQRLRGREGGSHFINTSSPRGEAKMSITSDEVNFLVYRYLQESGFSHSAFTFGIESHISQSNINGTLVPPAAL
ISILQKGLQYVEAEISINEDGTVFDGRPIESLSLIDAVMPDVVQTRQQAFREKLAQQQASAAAAAAAATAAATAATTTSAGVSHQNPSKNREATVNGEEN
RAHSVNNHAKPMEIDGEVEIPSSKATVLRGHESEVFICAWNPVSDLLASGSGDSTARIWNLNENSNGGSTQLVLRHCIREGGHDVPSNKDVTSLDWNTNG
TLLATGSYDGFARIWTEDGNLASTLGQHKGPIFALKWNRKGNYILSAGVDKTTIIWDAHTGEAKQQFPFHSAPALDVDWQNNTTFASCSTDMCIHVCRLG
CDRPVKTFQGHTNEVNAIKWDPSGMLLASCSDDMTLKIWSMKQEVCIHDLQAHNKEIYTIKWSPTGPATSNPNSNIMLASASFDSTVRLWDIERGVCTHT
LTKHQEPVYSVAFSPDGKYLASGSFDKCVHIWNTQSGNLVHSYRGTGGIFEVCWNARGDKVGASASDGSVCVLDLRK
 
F-box-like/WD repeat-containing protein TBL1X isoform a
Refseq ID:NP_005638
Protein GI:5032159
UniProt ID:O60907
mRNA ID:NM_005647
Length:577
RefSeq Status:
Protein sequence is identical to GI:213021186 (mRNA isoform)
 
F-box-like/WD repeat-containing protein TBL1X isoform b
Refseq ID:NP_001132939
Protein GI:213021188
UniProt ID:O60907
mRNA ID:NM_001139467
Length:526
RefSeq Status:
MSITSDEVNFLVYRYLQESGFSHSAFTFGIESHISQSNINGTLVPPAALISILQKGLQYVEAEISINEDGTVFDGRPIESLSLIDAVMPDVVQTRQQAFR
EKLAQQQASAAAAAAAATAAATAATTTSAGVSHQNPSKNREATVNGEENRAHSVNNHAKPMEIDGEVEIPSSKATVLRGHESEVFICAWNPVSDLLASGS
GDSTARIWNLNENSNGGSTQLVLRHCIREGGHDVPSNKDVTSLDWNTNGTLLATGSYDGFARIWTEDGNLASTLGQHKGPIFALKWNRKGNYILSAGVDK
TTIIWDAHTGEAKQQFPFHSAPALDVDWQNNTTFASCSTDMCIHVCRLGCDRPVKTFQGHTNEVNAIKWDPSGMLLASCSDDMTLKIWSMKQEVCIHDLQ
AHNKEIYTIKWSPTGPATSNPNSNIMLASASFDSTVRLWDIERGVCTHTLTKHQEPVYSVAFSPDGKYLASGSFDKCVHIWNTQSGNLVHSYRGTGGIFE
VCWNARGDKVGASASDGSVCVLDLRK
 
F-box-like/WD repeat-containing protein TBL1X isoform b
Refseq ID:NP_001132940
Protein GI:213021190
UniProt ID:O60907
mRNA ID:NM_001139468
Length:526
RefSeq Status:
Protein sequence is identical to GI:213021188 (mRNA isoform)
 
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