Homo sapiens (human): 6907 Help 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) BRITE hierarchy SSDB OrthologParalogGene clusterGFIT 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 Motif Other DBs NCBI-GeneID:  6907 NCBI-ProteinID:  NP_001132938 OMIM:  300196 HGNC:  11585 Ensembl:  ENSG00000101849 UniProt:  O60907 Structure PDBPDBj LinkDB All DBs Position X:9463295..9719740 Genome browser AA seq 577 aa AA seqDB search MTELAGASSSCCHRPAGRGAMQSVLHHFQRLRGREGGSHFINTSSPRGEAKMSITSDEVN FLVYRYLQESGFSHSAFTFGIESHISQSNINGTLVPPAALISILQKGLQYVEAEISINED GTVFDGRPIESLSLIDAVMPDVVQTRQQAFREKLAQQQASAAAAAAAATAAATAATTTSA GVSHQNPSKNREATVNGEENRAHSVNNHAKPMEIDGEVEIPSSKATVLRGHESEVFICAW NPVSDLLASGSGDSTARIWNLNENSNGGSTQLVLRHCIREGGHDVPSNKDVTSLDWNTNG TLLATGSYDGFARIWTEDGNLASTLGQHKGPIFALKWNRKGNYILSAGVDKTTIIWDAHT GEAKQQFPFHSAPALDVDWQNNTTFASCSTDMCIHVCRLGCDRPVKTFQGHTNEVNAIKW DPSGMLLASCSDDMTLKIWSMKQEVCIHDLQAHNKEIYTIKWSPTGPATSNPNSNIMLAS ASFDSTVRLWDIERGVCTHTLTKHQEPVYSVAFSPDGKYLASGSFDKCVHIWNTQSGNLV HSYRGTGGIFEVCWNARGDKVGASASDGSVCVLDLRK NT seq 1734 nt NT seq  +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

Homo sapiens (human): 79718 Help 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) BRITE hierarchy SSDB OrthologParalogGene clusterGFIT 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 Motif Other DBs NCBI-GeneID:  79718 NCBI-ProteinID:  NP_001308122 OMIM:  608628 HGNC:  29529 Ensembl:  ENSG00000177565 UniProt:  Q9BZK7 Structure PDBPDBj LinkDB All DBs Position 3:complement(177019344..177201800) Genome browser AA seq 514 aa AA seqDB search MSISSDEVNFLVYRYLQESGFSHSAFTFGIESHISQSNINGALVPPAALISIIQKGLQYV EAEVSINEDGTLFDGRPIESLSLIDAVMPDVVQTRQQAYRDKLAQQQAAAAAAAAAAASQ QGSAKNGENTANGEENGAHTIANNHTDMMEVDGDVEIPPNKAVVLRGHESEVFICAWNPV SDLLASGSGDSTARIWNLSENSTSGSTQLVLRHCIREGGQDVPSNKDVTSLDWNSEGTLL ATGSYDGFARIWTKDGNLASTLGQHKGPIFALKWNKKGNFILSAGVDKTTIIWDAHTGEA KQQFPFHSAPALDVDWQSNNTFASCSTDMCIHVCKLGQDRPIKTFQGHTNEVNAIKWDPT GNLLASCSDDMTLKIWSMKQDNCVHDLQAHNKEIYTIKWSPTGPGTNNPNANLMLASASF DSTVRLWDVDRGICIHTLTKHQEPVYSVAFSPDGRYLASGSFDKCVHIWNTQTGALVHSY RGTGGIFEVCWNAAGDKVGASASDGSVCVLDLRK NT seq 1545 nt NT seq  +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

Homo sapiens (human): 90665 Help 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) BRITE hierarchy SSDB OrthologParalogGene clusterGFIT 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 Motif Other DBs NCBI-GeneID:  90665 NCBI-ProteinID:  NP_150600 OMIM:  400033 HGNC:  18502 Ensembl:  ENSG00000092377 UniProt:  Q9BQ87 LinkDB All DBs Position Y:6910697..7091683 Genome browser AA seq 522 aa AA seqDB search MSITSDEVNFLVYRYLQESGFSHSAFTFGIESHISQSNINGTLVPPSALISILQKGLQYV EAEISINKDGTVFDSRPIESLSLIVAVIPDVVQMRQQAFGEKLTQQQASAAATEASAMAK AATMTPAAISQQNPPKNREATVNGEENGAHEINNHSKPMEIDGDVEIPPNKATVLRGHES EVFICAWNPVSDLLASGSGDSTARIWNLNENSNGGSTQLVLRHCIREGGHDVPSNKDVTS LDWNSDGTLLAMGSYDGFARIWTENGNLASTLGQHKGPIFALKWNKKGNYVLSAGVDKTT IIWDAHTGEAKQQFPFHSAPALDVDWQNNMTFASCSTDMCIHVCRLGCDHPVKTFQGHTN EVNAIKWDPSGMLLASCSDDMTLKIWSMKQDACVHDLQAHSKEIYTIKWSPTGPATSNPN SSIMLASASFDSTVRLWDVEQGVCTHTLMKHQEPVYSVAFSPDGKYLASGSFDKYVHIWN TQSGSLVHSYQGTGGIFEVCWNARGDKVGASASDGSVCVLDL NT seq 1569 nt NT seq  +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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