Property Summary

NCBI Gene PubMed Count 34
PubMed Score 68.05
PubTator Score 594.18

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (7)

Disease Target Count
IGA Glomerulonephritis 454
Disease Target Count P-value
non-small cell lung cancer 2798 4.64561637549723E-16
juvenile dermatomyositis 1189 3.77343859871087E-8
psoriasis 6685 5.88627831054561E-8
osteosarcoma 7933 9.52368518376404E-8
atypical teratoid / rhabdoid tumor 4369 4.86718789908475E-7
tuberculosis and treatment for 3 months 327 2.12726191944994E-6
glioblastoma 5572 6.11277826484779E-6
pituitary cancer 1972 6.21282360617272E-5
ovarian cancer 8492 1.15212492493973E-4
Pick disease 1893 1.8370083445025E-4
posterior fossa group B ependymoma 1530 2.16789027799442E-4
intraductal papillary-mucinous adenoma (IPMA) 2956 3.16392004596703E-4
primary pancreatic ductal adenocarcinoma 1271 3.31891749055087E-4
pancreatic cancer 2300 6.34268811544079E-4
sarcoidosis 368 0.00491953979287889
acute quadriplegic myopathy 1157 0.00524403128524148
adult high grade glioma 2148 0.00648136092352584
intraductal papillary-mucinous neoplasm (IPMN) 3289 0.00677034467600581
medulloblastoma, large-cell 6234 0.00944485280527802
gastric carcinoma 832 0.0114030323113171
intraductal papillary-mucinous carcinoma (IPMC) 2988 0.0301308546779203
acute myeloid leukemia 785 0.0387891001781019
Disease Target Count Z-score Confidence
systemic lupus erythematosus 172 0.0 1.0
Disease Target Count Z-score Confidence
Intellectual disability 573 0.0 4.0

Expression

Synonym

Accession Q9BZK7 D3DNQ9 Q14DC3 Q9H2I1 Q9H9A1
Symbols C21
DC42
IRA1
MRD41
TBLR1

Gene

PDB

4LG9  

  Ortholog (9)

Species Source
Chimp OMA EggNOG
Macaque OMA Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Cow OMA Inparanoid
Opossum OMA EggNOG
Anole lizard OMA EggNOG
Xenopus OMA Inparanoid
S.cerevisiae OMA EggNOG

Gene RIF (19)

PMID Text
26708416 in splenic hemangioma with t(3;6)(q26;p21), the entire coding region of HMGA1 comes under the control of the TBL1XR1 promoter, bringing about dysregulation of HMGA1
26386862 These finding suggested that TBLR1 is likely to be a potential prognostic indicator and therapeutic target for HCC and that TBLR1 may be implicated in EMT of HCC cells.
25425123 that TBL1XR1 haploinsufficiency can cause intellectual disability with a recognizable dysmorphism, without necessarily causing autistic behavior.
25341494 TBLR1 plays a key role in the development and progression of breast cancer cells via cyclin D1-transactivation and activation of the beta-catenin signaling pathway.
25145705 Results show that upregulation of TBL1XR1 induces Nasopharyngeal Carcinoma cells resistance to cisplatin by activating the NF-kappaB pathway.
25102098 Patient with TBL1XR1 mutation [c.209 G>A (p.Gly70Asp)] leading to West syndrome with Rett-like features, together with autistic features was reported.
24895125 data indicate that loss of TBL1XR1 is a novel driver of glucocorticoid resistance in ALL and that epigenetic therapy may have future application in restoring drug sensitivity at relapse.
24874481 The TBLR1 protein may be a prognostic marker in cervical cancer and play an important role in the invasion and metastasis of human cervical cancer
24667177 results demonstrated that TBL1XR1 induced lymphangiogenesis and lymphatic metastasis in esophageal squamous cell carcinoma via upregulation of VEGF-C, and may represent a novel prognostic biomarker and therapeutic target for patients with ESCC.
24243687 Stable ectopic expression of TBLR1 leads to androgen-dependent growth suppression of prostate cancer cells by selective activation of androgen-regulated genes associated with differentiation and growth suppression but not cell proliferation.
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AA Sequence

MSISSDEVNFLVYRYLQESGFSHSAFTFGIESHISQSNINGALVPPAALISIIQKGLQYVEAEVSINEDG      1 - 70
TLFDGRPIESLSLIDAVMPDVVQTRQQAYRDKLAQQQAAAAAAAAAAASQQGSAKNGENTANGEENGAHT     71 - 140
IANNHTDMMEVDGDVEIPPNKAVVLRGHESEVFICAWNPVSDLLASGSGDSTARIWNLSENSTSGSTQLV    141 - 210
LRHCIREGGQDVPSNKDVTSLDWNSEGTLLATGSYDGFARIWTKDGNLASTLGQHKGPIFALKWNKKGNF    211 - 280
ILSAGVDKTTIIWDAHTGEAKQQFPFHSAPALDVDWQSNNTFASCSTDMCIHVCKLGQDRPIKTFQGHTN    281 - 350
EVNAIKWDPTGNLLASCSDDMTLKIWSMKQDNCVHDLQAHNKEIYTIKWSPTGPGTNNPNANLMLASASF    351 - 420
DSTVRLWDVDRGICIHTLTKHQEPVYSVAFSPDGRYLASGSFDKCVHIWNTQTGALVHSYRGTGGIFEVC    421 - 490
WNAAGDKVGASASDGSVCVLDLRK                                                  491 - 514
//

Text Mined References (45)

PMID Year Title
27221108 2016 Erratum: A specific mutation in TBL1XR1 causes Pierpont syndrome.
27133561 2016 Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events.
26769062 2016 A specific mutation in TBL1XR1 causes Pierpont syndrome.
26708416 2016 Fusion of the TBL1XR1 and HMGA1 genes in splenic hemangioma with t(3;6)(q26;p21).
26386862 2016 Transducin (Beta)-Like 1 X-Linked Receptor 1 Correlates with Clinical Prognosis and Epithelial-Mesenchymal Transition in Hepatocellular Carcinoma.
25425123 2015 A new syndrome of intellectual disability with dysmorphism due to TBL1XR1 deletion.
25416956 2014 A proteome-scale map of the human interactome network.
25341494 2014 Transducin (?)-like 1 X-linked receptor 1 promotes proliferation and tumorigenicity in human breast cancer via activation of beta-catenin signaling.
25145705 2014 Transducin ?-like 1 X-linked receptor 1 suppresses cisplatin sensitivity in nasopharyngeal carcinoma via activation of NF-?B pathway.
25102098 2014 A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation.
More...