Property Summary

NCBI Gene PubMed Count 42
PubMed Score 105.19
PubTator Score 82.90

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (11)

Disease log2 FC p
psoriasis -1.100 1.3e-03
osteosarcoma 1.035 2.2e-02
atypical teratoid / rhabdoid tumor -1.300 6.2e-03
adrenocortical carcinoma -1.450 5.7e-04
colon cancer 1.100 2.8e-04
Polycystic Ovary Syndrome 1.015 2.0e-02
breast carcinoma -1.100 3.1e-21
Breast cancer -1.400 4.9e-08
invasive ductal carcinoma -1.400 1.6e-03
ovarian cancer -2.700 1.3e-06
dermatomyositis 1.400 7.1e-04

Gene RIF (26)

PMID Text
25043022 homozygous carriers of a nonsense p.Arg684Ter variant have markedly higher concentrations of plasma glucose and serum insulin 2 hours after an oral glucose load compared with individuals with other genotypes
24876356 AS160 and TBC1D1 phosphorylations were evident 30 min after exercise.
23801578 Findings suggest that a dampening of insulin-induced phosphorylation of AS160 on specific sites in skeletal muscle contributes to the insulin resistance evident in a sedentary aging population
22028408 insulin resistance in muscles from healthy individuals is associated with suppression of site-specific phosphorylation of AS160
21606541 HIV-1 Nef decreases levels of AS160 phosphorylation in insulin-stimulated adipocytes
21454690 AS160 phosphotyrosine-binding domain constructs inhibit insulin-stimulated GLUT4 vesicle fusion with the plasma membrane
21454505 Crystal structures of human TBC1D1 and TBC1D4 (AS160) RabGTPase-activating protein (RabGAP) domains reveal critical elements for GLUT4 translocation.
20943949 AS160 interacts with the large cytoplasmic NP domain of the alpha-subunit of the Na(+),K(+)-ATPase. AMP-stimulated protein kinase (AMPK) and AS160 participate in a common pathway to modulate the cell surface expression of the Na(+),K(+)-ATPase.
20938636 Impaired insulin-induced site-specific TBC1D4 phosphorylation may contribute to skeletal muscle insulin resistance in type 2 diabetes.
20937822 WNK1 promotes cell surface expression of glucose transporter GLUT1 by regulating a Tre-2/USP6-BUB2-Cdc16 domain family member 4 (TBC1D4)-Rab8A complex
20574165 results show AS160 phosphorylation level is frequently increased in breast cancer; results implicate a possible role of AS160 in breast tumorigenesis and suggest that p-AS160 might be useful as a marker and a potential novel treatment target
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19923418 S711 is a novel TBC1D4 phosphorylation site regulated by AMPK in skeletal muscle.
19470471 Prematurely truncated TBC1D4 protein tended to increase basal cell membrane GLUT4 levels (P = 0.053) and significantly reduced insulin-stimulated GLUT4 cell membrane translocation (P < 0.05).
19252894 Specific phosphorylation of TBC1D4 in human skeletal muscle in response to physiological exercise-induced hyperinsulinemia.
18845784 muscle TBC1D4 phosphorylation across the leg is increased during recovery following resistance exercise
18771725 The transcript variant 2 of AS160 in contrast to full-length AS160 is a novel regulator of glucose transport that positively influences glucose-uptake rates.
18276765 AS160, previously recognized as a key player in insulin signaling in skeletal muscle and adipose tissue, is also a major effector of protein kinase B/Akt signaling in the beta-cell.
17977950 Impaired insulin signaling through Akt and AS160 in part explains insulin resistance at the molecular level in skeletal muscle in polycystic ovary syndrome.
17617058 AS160 is a common target of insulin, IGF-1, EGF, PMA and AICAR, these stimuli induce distinctive patterns of phosphorylation and 14-3-3 binding, mediated by at least four protein kinases.
17513702 Effects of endurance exercise training on insulin signaling and AS160 in human skeletal muscle
17369524 Regulation of AS160 and interaction with 14-3-3 in skeletal muscle are influenced by resistance exercise and insulin but do not fully explain the effect of resistance exercise on whole-body insulin action.
17077344 AS160 is phosphorylated in a time-dependent manner during moderate-intensity exercise.
15971998 results indicate that AS160 is a Rab GAP, and suggest novel Rabs that may participate in GLUT4 translocation
15919790 In this study, we determined the expression of and in vivo insulin action on AS160 in skeletal muscle of normal and type 2 diabetic patients.
15304337 KIAA0603 is likely to be a Rab GAP that participates in the regulation of activated T cells in atopic dermatitis

AA Sequence

MEPPSCIQDEPFPHPLEPEPGVSAQPGPGKPSDKRFRLWYVGGSCLDHRTTLPMLPWLMAEIRRRSQKPE      1 - 70
AGGCGAPAAREVILVLSAPFLRCVPAPGAGASGGTSPSATQPNPAVFIFEHKAQHISRFIHNSHDLTYFA     71 - 140
YLIKAQPDDPESQMACHVFRATDPSQVPDVISSIRQLSKAAMKEDAKPSKDNEDAFYNSQKFEVLYCGKV    141 - 210
TVTHKKAPSSLIDDCMEKFSLHEQQRLKIQGEQRGPDPGEDLADLEVVVPGSPGDCLPEEADGTDTHLGL    211 - 280
PAGASQPALTSSRVCFPERILEDSGFDEQQEFRSRCSSVTGVQRRVHEGSQKSQPRRRHASAPSHVQPSD    281 - 350
SEKNRTMLFQVGRFEINLISPDTKSVVLEKNFKDISSCSQGIKHVDHFGFICRESPEPGLSQYICYVFQC    351 - 420
ASESLVDEVMLTLKQAFSTAAALQSAKTQIKLCEACPMHSLHKLCERIEGLYPPRAKLVIQRHLSSLTDN    421 - 490
EQADIFERVQKMKPVSDQEENELVILHLRQLCEAKQKTHVHIGEGPSTISNSTIPENATSSGRFKLDILK    491 - 560
NKAKRSLTSSLENIFSRGANRMRGRLGSVDSFERSNSLASEKDYSPGDSPPGTPPASPPSSAWQTFPEED    561 - 630
SDSPQFRRRAHTFSHPPSSTKRKLNLQDGRAQGVRSPLLRQSSSEQCSNLSSVRRMYKESNSSSSLPSLH    631 - 700
TSFSAPSFTAPSFLKSFYQNSGRLSPQYENEIRQDTASESSDGEGRKRTSSTCSNESLSVGGTSVTPRRI    701 - 770
SWRQRIFLRVASPMNKSPSAMQQQDGLDRNELLPLSPLSPTMEEEPLVVFLSGEDDPEKIEERKKSKELR    771 - 840
SLWRKAIHQQILLLRMEKENQKLEASRDELQSRKVKLDYEEVGACQKEVLITWDKKLLNCRAKIRCDMED    841 - 910
IHTLLKEGVPKSRRGEIWQFLALQYRLRHRLPNKQQPPDISYKELLKQLTAQQHAILVDLGRTFPTHPYF    911 - 980
SVQLGPGQLSLFNLLKAYSLLDKEVGYCQGISFVAGVLLLHMSEEQAFEMLKFLMYDLGFRKQYRPDMMS    981 - 1050
LQIQMYQLSRLLHDYHRDLYNHLEENEISPSLYAAPWFLTLFASQFSLGFVARVFDIIFLQGTEVIFKVA   1051 - 1120
LSLLSSQETLIMECESFENIVEFLKNTLPDMNTSEMEKIITQVFEMDISKQLHAYEVEYHVLQDELQESS   1121 - 1190
YSCEDSETLEKLERANSQLKRQNMDLLEKLQVAHTKIQALESNLENLLTRETKMKSLIRTLEQEKMAYQK   1191 - 1260
TVEQLRKLLPADALVNCDLLLRDLNCNPNNKAKIGNKP                                   1261 - 1298
//

Text Mined References (56)

PMID Year Title
25043022 2014 A common Greenlandic TBC1D4 variant confers muscle insulin resistance and type 2 diabetes.
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.
23801578 2013 Impairments in site-specific AS160 phosphorylation and effects of exercise training.
23562823 2013 Genome-wide association study in a Chinese population with diabetic retinopathy.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22908308 2012 Rab10 and myosin-Va mediate insulin-stimulated GLUT4 storage vesicle translocation in adipocytes.
22028408 2012 Insulin resistance after a 72-h fast is associated with impaired AS160 phosphorylation and accumulation of lipid and glycogen in human skeletal muscle.
21454690 2011 AS160 phosphotyrosine-binding domain constructs inhibit insulin-stimulated GLUT4 vesicle fusion with the plasma membrane.
21454505 2011 Crystal structures of human TBC1D1 and TBC1D4 (AS160) RabGTPase-activating protein (RabGAP) domains reveal critical elements for GLUT4 translocation.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21269460 2011 Initial characterization of the human central proteome.
20943949 2010 AS160 associates with the Na+,K+-ATPase and mediates the adenosine monophosphate-stimulated protein kinase-dependent regulation of sodium pump surface expression.
20938636 2011 Impaired insulin-induced site-specific phosphorylation of TBC1 domain family, member 4 (TBC1D4) in skeletal muscle of type 2 diabetes patients is restored by endurance exercise-training.
20937822 2010 Protein kinase WNK1 promotes cell surface expression of glucose transporter GLUT1 by regulating a Tre-2/USP6-BUB2-Cdc16 domain family member 4 (TBC1D4)-Rab8A complex.
20574165 2010 Frequent hyperphosphorylation of AS160 in breast cancer.
20445134 2010 Association of genome-wide variation with the risk of incident heart failure in adults of European and African ancestry: a prospective meta-analysis from the cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19923418 2010 Identification of a novel phosphorylation site on TBC1D4 regulated by AMP-activated protein kinase in skeletal muscle.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
19470471 2009 A truncation mutation in TBC1D4 in a family with acanthosis nigricans and postprandial hyperinsulinemia.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
19252894 2009 Potential role of TBC1D4 in enhanced post-exercise insulin action in human skeletal muscle.
19077034 2009 Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity.
18845784 2008 Resistance exercise increases human skeletal muscle AS160/TBC1D4 phosphorylation in association with enhanced leg glucose uptake during postexercise recovery.
18771725 2008 Identification of a novel AS160 splice variant that regulates GLUT4 translocation and glucose-uptake in rat muscle cells.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18276765 2008 Rab GTPase-activating protein AS160 is a major downstream effector of protein kinase B/Akt signaling in pancreatic beta-cells.
18220336 2008 Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.
17977950 2008 Impaired insulin-stimulated phosphorylation of Akt and AS160 in skeletal muscle of women with polycystic ovary syndrome is reversed by pioglitazone treatment.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17617058 2007 Regulation of multisite phosphorylation and 14-3-3 binding of AS160 in response to IGF-1, EGF, PMA and AICAR.
17513702 2007 Effects of endurance exercise training on insulin signaling in human skeletal muscle: interactions at the level of phosphatidylinositol 3-kinase, Akt, and AS160.
17369524 2007 Resistance exercise and insulin regulate AS160 and interaction with 14-3-3 in human skeletal muscle.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
17077344 2007 AS160 phosphorylation is associated with activation of alpha2beta2gamma1- but not alpha2beta2gamma3-AMPK trimeric complex in skeletal muscle during exercise in humans.
16964243 2006 A probability-based approach for high-throughput protein phosphorylation analysis and site localization.
16083285 Global phosphoproteome of HT-29 human colon adenocarcinoma cells.
15971998 2005 AS160, the Akt substrate regulating GLUT4 translocation, has a functional Rab GTPase-activating protein domain.
15919790 2005 Insulin-stimulated phosphorylation of the Akt substrate AS160 is impaired in skeletal muscle of type 2 diabetic subjects.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15324660 2004 Proteomic, functional, and domain-based analysis of in vivo 14-3-3 binding proteins involved in cytoskeletal regulation and cellular organization.
15304337 2004 Upregulation of the transcript level of GTPase activating protein KIAA0603 in T cells from patients with atopic dermatitis.
15302935 2004 Large-scale characterization of HeLa cell nuclear phosphoproteins.
15057823 2004 The DNA sequence and analysis of human chromosome 13.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12637568 2003 Insulin-stimulated phosphorylation of a Rab GTPase-activating protein regulates GLUT4 translocation.
12601173 2003 Immunomic analysis of human sarcoma.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12421765 2002 Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs.
11994271 2002 A method to identify serine kinase substrates. Akt phosphorylates a novel adipocyte protein with a Rab GTPase-activating protein (GAP) domain.
11829485 2002 Candidate genes required for embryonic development: a comparative analysis of distal mouse chromosome 14 and human chromosome 13q22.
9628581 1998 Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.