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
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

  All links  
Disease (3)   
   OMIM (3)   
Gene (20)   
   RefGene (13)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
Protein sequence (28)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (26)   
DNA sequence (68)   
   RefSeq(nuc) (26)   
   GenBank (21)   
   EMBL (21)   
3D Structure (1)   
   PDB (1)   
Protein domain (40)   
   Pfam (40)   
All databases (160)   

Download RDF
DBGET integrated database retrieval system