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 ANAPC4_WD40 NBCH_WD40 eIF2A LisH WD40_like RMC1_N Coatomer_WDAD PD40
Other DBs
NCBI-GeneID: 79718
NCBI-ProteinID: NP_001308122
OMIM: 608628
HGNC: 29529
Ensembl: ENSG00000177565
UniProt: Q9BZK7
Structure
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

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