KEGG   Homo sapiens (human): 6907
Entry
6907              CDS       T01001                                 
Symbol
TBL1X, CHNG8, EBI, SMAP55, TBL1
Name
(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)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03036 Chromosome and associated proteins [BR:hsa03036]
    6907 (TBL1X)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Histone modification proteins
   HDAC complexes
    SMART complex
     6907 (TBL1X)
SSDB
Motif
Pfam: WD40 WD40_Prp19 WD40_WDHD1_1st WD40_CDC20-Fz Beta-prop_CAF1B_HIR1 Beta-prop_EML_2 ANAPC4_WD40 EIF3I Beta-prop_TEP1_2nd WDR55 WD40_MABP1-WDR62_2nd Beta-prop_EML Beta-prop_WDR75_1st Beta-prop_RIG_2nd Beta-prop_WDR90_POC16_2nd Beta-prop_IFT122_1st Beta-prop_WDR19_1st WD40_RFWD3 WDR90_beta-prop_4th Beta-prop_IFT140_1st NBCH_WD40 Beta-prop_WDR35_TULP_N WD40_MABP1-WDR62_1st eIF2A Beta-prop_Vps41 Beta-prop_SPT8 LisH Beta-prop_DCAF12 Beta-prop_EIPR1 Beta-prop_SCAP WD_LRWD1 Beta-prop_HPS5 Beta-prop_WDR75_2nd RMC1_N Beta-prop_NWD2_C PD40 K_channel_TID Shadoo
Other DBs
NCBI-GeneID: 6907
NCBI-ProteinID: NP_001132938
OMIM: 300196
HGNC: 11585
Ensembl: ENSG00000101849
UniProt: O60907
Structure
Position
X:9463295..9719740
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

  All links  
Disease (2)   
   OMIM (2)   
Gene (34)   
   RefGene (21)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (8)   
   OC (1)   
Protein sequence (6)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (4)   
DNA sequence (20)   
   RefSeq(nuc) (4)   
   GenBank (8)   
   EMBL (8)   
3D Structure (3)   
   PDB (3)   
Protein domain (38)   
   Pfam (38)   
All databases (103)   

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