Property Summary

NCBI Gene PubMed Count 35
Grant Count 38
R01 Count 26
Funding $3,587,635.1
PubMed Score 55.69
PubTator Score 39.17

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (18)

Disease log2 FC p
Waldenstrons macroglobulinemia 1.048 0.010
malignant mesothelioma -2.000 0.000
osteosarcoma -2.839 0.000
astrocytoma 1.300 0.003
glioblastoma 1.200 0.002
tuberculosis 1.600 0.000
non-small cell lung cancer -1.238 0.000
lung cancer 2.100 0.000
active Crohn's disease 1.021 0.011
diabetes mellitus -1.300 0.006
interstitial cystitis -1.300 0.001
posterior fossa group B ependymoma 1.300 0.000
sonic hedgehog group medulloblastoma 1.300 0.000
subependymal giant cell astrocytoma 1.921 0.010
lung adenocarcinoma -1.300 0.000
lung carcinoma -1.200 0.000
gastric carcinoma 1.500 0.003
ovarian cancer -1.400 0.000

Gene RIF (18)

PMID Text
26572137 data demonstrate heterozygous deactivating TBC1D1 mutations in CAKUT patients with a similar renal and ureteral phenotype, and provide evidence that TBC1D1 mutations may contribute to CAKUT
24876356 AS160 and TBC1D1 phosphorylations were evident 30 min after exercise.
24239544 Data show that TBC1D1 is expressed and phosphorylated in response to glucose in these cells.
23667688 R125W mutation occurs in a location of the TBC1D1 PTB domain that is predicted to have a function in a putative protein:protein interaction.
23364847 Moderate association of rs9852 indicates an influence of TBC1D1 for antipsychotic-induced weight gain.
22851577 Data suggest that insulin increases phosphorylation of signaling nexus TBC1D1 independent of prior exercise or lipid/Intralipid administration.
21505148 A single bout of exercise regulates TBC1D1 and AS160 phosphorylation on multiple sites in human skeletal muscle.
21454505 Crystal structures of human TBC1D1 and TBC1D4 (AS160) RabGTPase-activating protein (RabGAP) domains reveal critical elements for GLUT4 translocation.
21078596 [review] The question of a mechanism for increased phosphorylation of Ser237-TBC1D1 after exercise has, so far, not had a straightforward experimental approach for a direct answer in humans undergoing in vivo exercise.
20837646 TBC1D1 is Ser237 phosphorylated and binding capacity to 14-3-3 protein is increased in skeletal muscle following exercise.
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AA Sequence

MEPITFTARKHLLSNEVSVDFGLQLVGSLPVHSLTTMPMLPWVVAEVRRLSRQSTRKEPVTKQVRLCVSP      1 - 70
SGLRCEPEPGRSQQWDPLIYSSIFECKPQRVHKLIHNSHDPSYFACLIKEDAVHRQSICYVFKADDQTKV     71 - 140
PEIISSIRQAGKIARQEELHCPSEFDDTFSKKFEVLFCGRVTVAHKKAPPALIDECIEKFNHVSGSRGSE    141 - 210
SPRPNPPHAAPTGSQEPVRRPMRKSFSQPGLRSLAFRKELQDGGLRSSGFFSSFEESDIENHLISGHNIV    211 - 280
QPTDIEENRTMLFTIGQSEVYLISPDTKKIALEKNFKEISFCSQGIRHVDHFGFICRESSGGGGFHFVCY    281 - 350
VFQCTNEALVDEIMMTLKQAFTVAAVQQTAKAPAQLCEGCPLQSLHKLCERIEGMNSSKTKLELQKHLTT    351 - 420
LTNQEQATIFEEVQKLRPRNEQRENELIISFLRCLYEEKQKEHIHIGEMKQTSQMAAENIGSELPPSATR    421 - 490
FRLDMLKNKAKRSLTESLESILSRGNKARGLQEHSISVDLDSSLSSTLSNTSKEPSVCEKEALPISESSF    491 - 560
KLLGSSEDLSSDSESHLPEEPAPLSPQQAFRRRANTLSHFPIECQEPPQPARGSPGVSQRKLMRYHSVST    561 - 630
ETPHERKDFESKANHLGDSGGTPVKTRRHSWRQQIFLRVATPQKACDSSSRYEDYSELGELPPRSPLEPV    631 - 700
CEDGPFGPPPEEKKRTSRELRELWQKAILQQILLLRMEKENQKLQASENDLLNKRLKLDYEEITPCLKEV    701 - 770
TTVWEKMLSTPGRSKIKFDMEKMHSAVGQGVPRHHRGEIWKFLAEQFHLKHQFPSKQQPKDVPYKELLKQ    771 - 840
LTSQQHAILIDLGRTFPTHPYFSAQLGAGQLSLYNILKAYSLLDQEVGYCQGLSFVAGILLLHMSEEEAF    841 - 910
KMLKFLMFDMGLRKQYRPDMIILQIQMYQLSRLLHDYHRDLYNHLEEHEIGPSLYAAPWFLTMFASQFPL    911 - 980
GFVARVFDMIFLQGTEVIFKVALSLLGSHKPLILQHENLETIVDFIKSTLPNLGLVQMEKTINQVFEMDI    981 - 1050
AKQLQAYEVEYHVLQEELIDSSPLSDNQRMDKLEKTNSSLRKQNLDLLEQLQVANGRIQSLEATIEKLLS   1051 - 1120
SESKLKQAMLTLELERSALLQTVEELRRRSAEPSDREPECTQPEPTGD                         1121 - 1168
//

Text Mined References (38)

PMID Year Title
26572137 2016 Whole-exome sequencing identifies mutations of TBC1D1 encoding a Rab-GTPase-activating protein in patients with congenital anomalies of the kidneys and urinary tract (CAKUT).
24876356 2014 Sustained AS160 and TBC1D1 phosphorylations in human skeletal muscle 30 min after a single bout of exercise.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24239544 2014 Expression, phosphorylation and function of the Rab-GTPase activating protein TBC1D1 in pancreatic beta-cells.
23850713 2014 Genome-wide association study of Crohn's disease in Koreans revealed three new susceptibility loci and common attributes of genetic susceptibility across ethnic populations.
23667688 2013 Structural and population-based evaluations of TBC1D1 p.Arg125Trp.
23364847 2013 Exploratory study on association of genetic variation in TBC1D1 with antipsychotic-induced weight gain.
23266558 2013 A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population.
22851577 2012 Exercise alleviates lipid-induced insulin resistance in human skeletal muscle-signaling interaction at the level of TBC1 domain family member 4.
22699663 2012 Genome-wide association study of periodontal pathogen colonization.
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