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
LinkDB
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

KEGG   Homo sapiens (human): 79718
Entry
79718             CDS       T01001                                 
Symbol
TBL1XR1, C21, DC42, IRA1, MRD41, TBLR1
Name
(RefSeq) TBL1X/Y related 1
  KO
K04508  transducin (beta)-like 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04310  Wnt signaling pathway
Disease
H00773  Autosomal dominant intellectual developmental disorder
H02334  Pierpont syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04310 Wnt signaling pathway
    79718 (TBL1XR1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03036 Chromosome and associated proteins [BR:hsa03036]
    79718 (TBL1XR1)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Histone modification proteins
   HDAC complexes
    SMART complex
     79718 (TBL1XR1)
SSDB
Motif
Pfam: WD40 WD40_Prp19 WD40_WDHD1_1st WD40_CDC20-Fz Beta-prop_CAF1B_HIR1 Beta-prop_EML_2 EIF3I ANAPC4_WD40 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_WDR19_1st Beta-prop_IFT122_1st NBCH_WD40 WD40_RFWD3 WDR90_beta-prop_4th Beta-prop_IFT140_1st Beta-prop_WDR35_TULP_N WD40_MABP1-WDR62_1st Beta-prop_TEP1_C eIF2A Beta-prop_Vps41 Beta-prop_SPT8 LisH Beta-prop_SCAP Beta-prop_DCAF12 Beta-prop_EIPR1 WD_LRWD1 B-prop_COPA_B_2nd Beta-prop_HPS5 WD40_like RMC1_N Beta-prop_WDR75_2nd Beta-prop_DCAF4 Beta-prop_NWD2_C PD40
Other DBs
NCBI-GeneID: 79718
NCBI-ProteinID: NP_001308122
OMIM: 608628
HGNC: 29529
Ensembl: ENSG00000177565
UniProt: Q9BZK7
Structure
LinkDB
Position
3:complement(177019344..177201800)
AA seq 514 aa
MSISSDEVNFLVYRYLQESGFSHSAFTFGIESHISQSNINGALVPPAALISIIQKGLQYV
EAEVSINEDGTLFDGRPIESLSLIDAVMPDVVQTRQQAYRDKLAQQQAAAAAAAAAAASQ
QGSAKNGENTANGEENGAHTIANNHTDMMEVDGDVEIPPNKAVVLRGHESEVFICAWNPV
SDLLASGSGDSTARIWNLSENSTSGSTQLVLRHCIREGGQDVPSNKDVTSLDWNSEGTLL
ATGSYDGFARIWTKDGNLASTLGQHKGPIFALKWNKKGNFILSAGVDKTTIIWDAHTGEA
KQQFPFHSAPALDVDWQSNNTFASCSTDMCIHVCKLGQDRPIKTFQGHTNEVNAIKWDPT
GNLLASCSDDMTLKIWSMKQDNCVHDLQAHNKEIYTIKWSPTGPGTNNPNANLMLASASF
DSTVRLWDVDRGICIHTLTKHQEPVYSVAFSPDGRYLASGSFDKCVHIWNTQTGALVHSY
RGTGGIFEVCWNAAGDKVGASASDGSVCVLDLRK
NT seq 1545 nt   +upstreamnt  +downstreamnt
atgagtataagcagtgatgaggtcaacttcttggtatatagatacttgcaagagtcagga
ttttctcattcagcatttacctttggtatagaaagccatatcagtcagtccaatataaat
ggtgccctcgtcccacccgctgcattgatttctatcatccagaaaggtctacagtatgta
gaagcagaagttagtattaatgaggatggtaccttgtttgatggtcgaccaatagagtct
ctgtccctgatagatgccgtaatgcctgatgtagtacaaacaagacaacaagcttataga
gataagcttgcacagcaacaggcagcagctgctgcagctgccgcagctgcagccagccaa
caaggatctgcaaaaaatggagaaaacacagcaaatggggaggagaatggagcacatact
atagcaaataatcatactgatatgatggaagtggatggggatgttgaaatccctcctaat
aaagctgttgtgttgcggggccatgaatctgaagtttttatctgtgcctggaaccctgtt
agtgatctcctagcatcagggtctggagactcaacagcaagaatatggaatcttagtgag
aacagcaccagtggctctacacagttagtacttagacattgtatacgagaaggagggcaa
gatgttccaagcaacaaggatgtcacatctctagattggaatagtgaaggtacacttcta
gcaactggttcctatgatgggtttgccagaatatggactaaagatggtaaccttgctagc
accttagggcagcataaaggccctatatttgcattaaaatggaataagaaaggaaatttc
atcctaagtgctggagtagacaagactacaattatttgggacgcacatactggtgaagcc
aagcaacagtttccttttcattcagcaccagcattggatgttgattggcagagcaacaac
acctttgcttcttgtagtacagatatgtgcattcatgtctgtaaattaggacaagacaga
cctattaaaacattccaaggacatacgaatgaagtaaatgctatcaaatgggacccaact
ggcaatctcttggcctcctgttctgacgacatgactttaaagatatggagtatgaaacaa
gacaattgtgtccatgatttgcaagcacataataaagaaatttatactatcaaatggagt
ccaacaggaccagggactaataatccaaatgccaaccttatgttagcaagtgcatccttt
gattctactgttaggttatgggatgtagaccgagggatatgcatccataccttgacaaaa
caccaagagcctgtgtacagtgtagctttcagtcctgatggcaggtatctggcaagtggt
tcttttgacaaatgtgtacacatctggaacacgcagacaggtgctctagttcacagctat
aggggaacaggtggaatatttgaagtttgctggaatgcagcaggagacaaagttggagcc
agtgcatcagatggttcagtttgtgtattagaccttcggaaatag

KEGG   Homo sapiens (human): 90665
Entry
90665             CDS       T01001                                 
Symbol
TBL1Y, DFNY2, TBL1
Name
(RefSeq) transducin beta like 1 Y-linked
  KO
K04508  transducin (beta)-like 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04310  Wnt signaling pathway
Disease
H02336  Deafness, Y-linked
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04310 Wnt signaling pathway
    90665 (TBL1Y)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03036 Chromosome and associated proteins [BR:hsa03036]
    90665 (TBL1Y)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Histone modification proteins
   HDAC complexes
    SMART complex
     90665 (TBL1Y)
SSDB
Motif
Pfam: WD40 WD40_Prp19 WD40_WDHD1_1st WD40_CDC20-Fz Beta-prop_CAF1B_HIR1 ANAPC4_WD40 Beta-prop_EML_2 EIF3I Beta-prop_TEP1_2nd WDR55 WD40_MABP1-WDR62_2nd Beta-prop_RIG_2nd Beta-prop_EML Beta-prop_WDR75_1st Beta-prop_WDR90_POC16_2nd Beta-prop_WDR19_1st Beta-prop_IFT122_1st Beta-prop_IFT140_1st WD40_RFWD3 WDR90_beta-prop_4th Beta-prop_WDR35_TULP_N WD40_MABP1-WDR62_1st NBCH_WD40 eIF2A Beta-prop_Vps41 Beta-prop_SCAP LisH Beta-prop_SPT8 Beta-prop_DCAF12 Beta-prop_EIPR1 WD_LRWD1 Beta-prop_WDR75_2nd Beta-prop_HPS5 RMC1_N Beta-prop_NWD2_C PD40 KdgT
Other DBs
NCBI-GeneID: 90665
NCBI-ProteinID: NP_150600
OMIM: 400033
HGNC: 18502
Ensembl: ENSG00000092377
UniProt: Q9BQ87
LinkDB
Position
Y:6910697..7091683
AA seq 522 aa
MSITSDEVNFLVYRYLQESGFSHSAFTFGIESHISQSNINGTLVPPSALISILQKGLQYV
EAEISINKDGTVFDSRPIESLSLIVAVIPDVVQMRQQAFGEKLTQQQASAAATEASAMAK
AATMTPAAISQQNPPKNREATVNGEENGAHEINNHSKPMEIDGDVEIPPNKATVLRGHES
EVFICAWNPVSDLLASGSGDSTARIWNLNENSNGGSTQLVLRHCIREGGHDVPSNKDVTS
LDWNSDGTLLAMGSYDGFARIWTENGNLASTLGQHKGPIFALKWNKKGNYVLSAGVDKTT
IIWDAHTGEAKQQFPFHSAPALDVDWQNNMTFASCSTDMCIHVCRLGCDHPVKTFQGHTN
EVNAIKWDPSGMLLASCSDDMTLKIWSMKQDACVHDLQAHSKEIYTIKWSPTGPATSNPN
SSIMLASASFDSTVRLWDVEQGVCTHTLMKHQEPVYSVAFSPDGKYLASGSFDKYVHIWN
TQSGSLVHSYQGTGGIFEVCWNARGDKVGASASDGSVCVLDL
NT seq 1569 nt   +upstreamnt  +downstreamnt
atgagcataaccagtgacgaggtgaactttctggtttatcggtatctccaggagtcaggt
ttttctcactcggctttcacgtttgggatcgagagccacatcagccagtccaacatcaat
gggacactagtgccaccgtctgccctcatctccattctccagaagggactgcagtatgta
gaggctgagataagcatcaacaaggatggcacagtgttcgacagccgccctatagagtcc
ctgtccctgatagttgctgtgattcctgatgtggtgcagatgcggcagcaggcatttgga
gagaagctcactcagcagcaagccagtgcagcagccacagaggcatcagcaatggcaaag
gcggcaaccatgaccccagctgctatttcccagcaaaatcctccaaagaaccgagaggcc
acagtgaacggggaagagaatggagcacatgaaatcaataatcactcaaagccaatggaa
atagatggggatgttgagattccacccaacaaagccacagtccttcggggccacgagtct
gaggtgttcatttgtgcctggaaccctgtcagtgatttgctagcctctggatctggagac
tcaactgcaaggatatggaacctgaatgagaatagcaacgggggctccacccagctcgtg
ttgagacattgtatacgagaaggggggcacgacgtcccaagtaataaagatgtcacctca
ctggactggaacagtgatggaacactattggctatgggttcatatgatggtttcgcaaga
atatggacagaaaatggtaacctggccagcaccttaggccaacataaaggccccatcttc
gctctgaaatggaacaaaaaggggaattatgttttgagtgctggtgtagacaaaacaaca
ataatttgggatgctcacacaggagaagccaaacagcagtttccttttcattcagccccc
gcccttgatgtggactggcagaacaacatgacctttgcctcctgtagcacagacatgtgt
atccatgtgtgcaggctcggctgtgaccacccagtcaaaaccttccagggacacacaaac
gaggtcaatgccatcaaatgggatccttctggaatgttgctggcgtcctgctcggatgac
atgacattgaagatctggagtatgaagcaggatgcatgcgtccacgatcttcaggctcac
agcaaagagatctacaccatcaagtggagccccaccgggcctgccaccagcaacccaaac
tccagcatcatgttggcaagtgcttcatttgattctacagtgcgactgtgggatgtggag
caaggtgtctgcacccacacactcatgaagcatcaagagcctgtctacagtgtagctttc
agccccgatggaaagtacttggctagtggatcctttgacaagtatgttcatatctggaat
actcagagtggaagtctcgtccacagctaccaaggcactggcggtatcttcgaggtgtgc
tggaacgcccgaggagataaagtgggcgccagcgcgtctgatggctctgtgtgtgttctg
gatctgtga

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