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

Gene name
TBL1XR1, C21, DC42, IRA1, MRD41, TBLR1
Definition
(RefSeq) transducin beta like 1 X-linked 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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: WD40 ANAPC4_WD40 eIF2A LisH Coatomer_WDAD WD40_like Ge1_WD40 Nup160 PD40
Motif
Other DBs
NCBI-GeneID: 79718
NCBI-ProteinID: NP_001308122
OMIM: 608628
HGNC: 29529
Ensembl: ENSG00000177565
Vega: OTTHUMG00000157140
Pharos: Q9BZK7(Tbio)
UniProt: Q9BZK7
Structure
PDB: 

Position
3q26.32
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

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Ontology (1)   
   KEGG BRITE (1)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (5)   
   KEGG DISEASE (2)   
   OMIM (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (23)   
   KEGG ORTHOLOGY (1)   
   RefGene (13)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (14)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (12)   
DNA sequence (54)   
   RefSeq(nuc) (12)   
   GenBank (21)   
   EMBL (21)   
Protein domain (9)   
   Pfam (9)   
All databases (108)   

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