KEGG   Homo sapiens (human): 6907
Entry
6907              CDS       T01001                                 

Gene name
TBL1X, CHNG8, EBI, SMAP55, TBL1
Definition
(RefSeq) transducin beta like 1 X-linked
  KO
K04508  transducin (beta)-like 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04310  Wnt signaling pathway
Disease
H00250  Congenital nongoitrous hypothyroidism (CHNG)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04310 Wnt signaling pathway
    6907 (TBL1X)
SSDB
Motif
Pfam: WD40 ANAPC4_WD40 eIF2A LisH K_channel_TID Nup160 PD40 Shadoo
Other DBs
NCBI-GeneID: 6907
NCBI-ProteinID: NP_001132938
OMIM: 300196
HGNC: 11585
Ensembl: ENSG00000101849
Vega: OTTHUMG00000021117
Pharos: O60907(Tbio)
UniProt: O60907 A0A024RBV9
Structure
PDB: 
2XTC 2XTD 2XTE

Position
Xp22.31-p22.2
AA seq 577 aa
MTELAGASSSCCHRPAGRGAMQSVLHHFQRLRGREGGSHFINTSSPRGEAKMSITSDEVN
FLVYRYLQESGFSHSAFTFGIESHISQSNINGTLVPPAALISILQKGLQYVEAEISINED
GTVFDGRPIESLSLIDAVMPDVVQTRQQAFREKLAQQQASAAAAAAAATAAATAATTTSA
GVSHQNPSKNREATVNGEENRAHSVNNHAKPMEIDGEVEIPSSKATVLRGHESEVFICAW
NPVSDLLASGSGDSTARIWNLNENSNGGSTQLVLRHCIREGGHDVPSNKDVTSLDWNTNG
TLLATGSYDGFARIWTEDGNLASTLGQHKGPIFALKWNRKGNYILSAGVDKTTIIWDAHT
GEAKQQFPFHSAPALDVDWQNNTTFASCSTDMCIHVCRLGCDRPVKTFQGHTNEVNAIKW
DPSGMLLASCSDDMTLKIWSMKQEVCIHDLQAHNKEIYTIKWSPTGPATSNPNSNIMLAS
ASFDSTVRLWDIERGVCTHTLTKHQEPVYSVAFSPDGKYLASGSFDKCVHIWNTQSGNLV
HSYRGTGGIFEVCWNARGDKVGASASDGSVCVLDLRK
NT seq 1734 nt   +upstreamnt  +downstreamnt
atgaccgagctcgctggcgcctcttcatcgtgctgccaccgccctgcaggaagaggggcc
atgcagtcagtcttgcaccactttcaacgtttgcgagggagagagggtggttcccacttc
atcaacacctcatcgccgcgaggtgaggctaagatgagcataaccagtgacgaggtgaac
tttctggtgtatcggtatctccaggagtcaggtttttcccactcggctttcacgtttggg
attgagagccacatcagccagtccaacatcaatgggacgctagtgccaccggccgccctc
atctccattctccagaagggcctgcagtatgtagaggccgagatcagtatcaacgaggat
ggcacagtgttcgacggccgccccatagagtccctgtcactgatagacgccgtgatgccc
gacgtggtgcagacgcggcagcaggcattccgagagaagctcgctcagcagcaagccagt
gcggcggcggcggcggctgcggccacggcagcagcgacagcagccaccacgacctcagcc
ggcgtttcccaccaaaatccatcgaagaacagagaggccacggtgaatggggaagagaac
agagcacattcagtcaataatcacgcgaagccaatggaaatagatggagaggttgagatt
ccatccagcaaagccacagtccttcggggccatgagtctgaggtgttcatttgtgcctgg
aatcctgtcagtgatttgctagcctccggatctggagactcaactgcaaggatatggaac
ctgaatgagaatagcaacgggggctccacccagctcgtgttgaggcactgtatacgagag
gggggccatgacgtcccgagtaacaaagacgtcacctcactggactggaataccaatgga
acactcttggctacgggttcatatgacggttttgcaagaatatggacggaagatggtaac
ctggccagcaccttaggccaacataaaggccccatctttgccttgaaatggaaccgaaag
gggaattacattttgagtgctggtgtagacaaaacaacaataatttgggatgcccacaca
ggagaagccaaacagcagtttccttttcattcagcccctgcccttgatgtggactggcag
aacaacacgacctttgcctcctgtagcacagacatgtgtatccatgtgtgcaggctcggc
tgtgaccgcccagtcaaaaccttccagggacacacaaacgaggtcaacgccatcaaatgg
gatccgtctggaatgttgctggcatcctgctcggatgacatgacattgaagatctggagc
atgaaacaggaggtgtgcatccatgatcttcaggctcacaataaagagatctacaccatc
aagtggagccccactgggcccgccaccagcaacccaaactccaacatcatgttggcaagt
gcttcgtttgattctacggtgcgactgtgggacatagaacgaggcgtctgcacccacacg
ctcacgaagcatcaggagcctgtctatagcgtagctttcagccctgatgggaagtacttg
gccagtggatccttcgacaagtgcgtccatatctggaatactcagagtggaaatcttgtc
cacagctaccgaggcactggcggcatcttcgaggtgtgctggaacgcccgaggagacaaa
gtgggtgccagcgcgtccgacggctctgtgtgtgttttggatctgcggaagtaa

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