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)
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

KEGG   Homo sapiens (human): 79718
Entry
79718             CDS       T01001                                 

Symbol
TBL1XR1, C21, DC42, IRA1, MRD41, TBLR1
Name
(RefSeq) TBL1X receptor 1
  KO
K04508  transducin (beta)-like 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04310  Wnt signaling pathway
Disease
H00773  Autosomal dominant mental retardation
H02334  Pierpont syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04310 Wnt signaling pathway
    79718 (TBL1XR1)
SSDB
Motif
Pfam: WD40 ANAPC4_WD40 eIF2A LisH Coatomer_WDAD WD40_like Ge1_WD40 Nup160 PD40 PCuAC
Other DBs
NCBI-GeneID: 79718
NCBI-ProteinID: NP_001308122
OMIM: 608628
HGNC: 29529
Ensembl: ENSG00000177565
Vega: OTTHUMG00000157140
Pharos: Q9BZK7(Tbio)
UniProt: Q9BZK7
Structure
PDB: 
4LG9

Position
3q26.32
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)
SSDB
Motif
Pfam: WD40 ANAPC4_WD40 eIF2A LisH Ge1_WD40 Nup160 IKI3 KdgT
Other DBs
NCBI-GeneID: 90665
NCBI-ProteinID: NP_150600
OMIM: 400033
HGNC: 18502
Ensembl: ENSG00000092377
Vega: OTTHUMG00000035299
Pharos: Q9BQ87(Tbio)
UniProt: Q9BQ87 A0A024R189
Position
Yp11.2
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

DBGET integrated database retrieval system