TBC1D4
entrez
9882
canonical
uniprot
O60343
canonical
ensembl
ENSG00000136111
resolver
ensp
ENSP00000366852
resolver
ensp
ENSP00000366863
resolver
ensp
ENSP00000395986
resolver
ensp
ENSP00000551392
resolver
ensp
ENSP00000624313
resolver
ensp
ENSP00000624315
resolver
ensp
ENSP00000624317
resolver
genesymbol
TBC1D4
resolver
genesymbol_syn
AS160
resolver
genesymbol_syn
KIAA0603
resolver
hgnc
HGNC:19165
resolver
uniprot
A7E2X8
resolver
uniprot
B4DU25
resolver
uniprot
B4E235
resolver
uniprot
B6ETN8
resolver
uniprot
B6ETN9
resolver
uniprot
Q5W0B9
resolver
uniprot
Q68D14
resolver
uniprot_entry
TBCD4_HUMAN
resolver
uniprot_sec
A7E2X8
resolver
uniprot_sec
B4DU25
resolver
uniprot_sec
B4E235
resolver
uniprot_sec
B6ETN8
resolver
uniprot_sec
B6ETN9
resolver
uniprot_sec
Q5W0B9
resolver
uniprot_sec
Q68D14
resolver
amino_acid_sequence
MEPPSCIQDEPFPHPLEPEPGVSAQPGPGKPSDKRFRLWYVGGSCLDHRTTLPMLPWLMAEIRRRSQKPEAGGCGAPAAREVILVLSAPFLRCVPAPGAGASGGTSPSATQPNPAVFIFEHKAQHISRFIHNSHDLTYFAYLIKAQPDDPESQMACHVFRATDPSQVPDVISSIRQLSKAAMKEDAKPSKDNEDAFYNSQKFEVLYCGKVTVTHKKAPSSLIDDCMEKFSLHEQQRLKIQGEQRGPDPGEDLADLEVVVPGSPGDCLPEEADGTDTHLGLPAGASQPALTSSRVCFPERILEDSGFDEQQEFRSRCSSVTGVQRRVHEGSQKSQPRRRHASAPSHVQPSDSEKNRTMLFQVGRFEINLISPDTKSVVLEKNFKDISSCSQGIKHVDHFGFICRESPEPGLSQYICYVFQCASESLVDEVMLTLKQAFSTAAALQSAKTQIKLCEACPMHSLHKLCERIEGLYPPRAKLVIQRHLSSLTDNEQADIFERVQKMKPVSDQEENELVILHLRQLCEAKQKTHVHIGEGPSTISNSTIPENATSSGRFKLDILKNKAKRSLTSSLENIFSRGANRMRGRLGSVDSFERSNSLASEKDYSPGDSPPGTPPASPPSSAWQTFPEEDSDSPQFRRRAHTFSHPPSSTKRKLNLQDGRAQGVRSPLLRQSSSEQCSNLSSVRRMYKESNSSSSLPSLHTSFSAPSFTAPSFLKSFYQNSGRLSPQYENEIRQDTASESSDGEGRKRTSSTCSNESLSVGGTSVTPRRISWRQRIFLRVASPMNKSPSAMQQQDGLDRNELLPLSPLSPTMEEEPLVVFLSGEDDPEKIEERKKSKELRSLWRKAIHQQILLLRMEKENQKLEASRDELQSRKVKLDYEEVGACQKEVLITWDKKLLNCRAKIRCDMEDIHTLLKEGVPKSRRGEIWQFLALQYRLRHRLPNKQQPPDISYKELLKQLTAQQHAILVDLGRTFPTHPYFSVQLGPGQLSLFNLLKAYSLLDKEVGYCQGISFVAGVLLLHMSEEQAFEMLKFLMYDLGFRKQYRPDMMSLQIQMYQLSRLLHDYHRDLYNHLEENEISPSLYAAPWFLTLFASQFSLGFVARVFDIIFLQGTEVIFKVALSLLSSQETLIMECESFENIVEFLKNTLPDMNTSEMEKIITQVFEMDISKQLHAYEVEYHVLQDELQESSYSCEDSETLEKLERANSQLKRQNMDLLEKLQVAHTKIQALESNLENLLTRETKMKSLIRTLEQEKMAYQKTVEQLRKLLPADALVNCDLLLRDLNCNPNNKAKIGNKP
uniprot
proteins
disease_involvement
DISEASE: Type 2 diabetes mellitus 5 (T2D5) [MIM:616087]: A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO:0000269|PubMed:25043022}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May act as a GTPase-activating protein for RAB2A, RAB8A, RAB10 and RAB14. Isoform 2 promotes insulin-induced glucose transporter SLC2A4/GLUT4 translocation at the plasma membrane, thus increasing glucose uptake. {ECO:0000269|PubMed:15971998, ECO:0000269|PubMed:18771725, ECO:0000269|PubMed:22908308}.
uniprot
proteins
mass_dalton
146563
uniprot
proteins
mutagenesis
MUTAGEN 318; /note="S->A: 80% reduction of insulin-stimulated GLUT4 translocation; when associated with A-588; A-642 and A-751."; /evidence="ECO:0000269|PubMed:12637568"; MUTAGEN 588; /note="S->A: 80% reduction of insulin-stimulated GLUT4 translocation; when associated with A-318; A-642 and A-751."; /evidence="ECO:0000269|PubMed:12637568"; MUTAGEN 642; /note="T->A: 80% reduction of insulin-stimulated GLUT4 translocation; when associated with A-318; A-588 and A-751."; /evidence="ECO:0000269|PubMed:12637568"; MUTAGEN 751; /note="S->A: 80% reduction of insulin-stimulated GLUT4 translocation; when associated with A-318; A-588 and A-642."; /evidence="ECO:0000269|PubMed:12637568"; MUTAGEN 972; /note="R->K: Loss of Rab GTPase activation. Only 20% reduction of GLUT4 translocation; even when associated with A-318; A-588; A-642 and A-751."; /evidence="ECO:0000269|PubMed:12637568, ECO:0000269|PubMed:15971998
uniprot
proteins
post_translational_modification
PTM: Phosphorylated by AKT1; insulin-induced. Also phosphorylated by AMPK in response to insulin. Insulin-stimulated phosphorylation is required for SLC2A4/GLUT4 translocation. Has no effect on SLC2A4/GLUT4 internalization. Physiological hyperinsulinemia increases phosphorylation in skeletal muscle. Insulin-stimulated phosphorylation is reduced by 39% in type 2 diabetic patients. {ECO:0000269|PubMed:11994271, ECO:0000269|PubMed:15919790, ECO:0000269|PubMed:18771725}.
uniprot
proteins
pubmed
11994271
uniprot
proteins
pubmed
12637568
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057823
uniprot
proteins
pubmed
15304337
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15919790
uniprot
proteins
pubmed
15971998
uniprot
proteins
pubmed
16964243
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18220336
uniprot
proteins
pubmed
18276765
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18771725
uniprot
proteins
pubmed
19077034
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
21454505
uniprot
proteins
pubmed
22908308
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25043022
uniprot
proteins
pubmed
9628581
uniprot
proteins
sequence_length
1298
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:18771725}. Note=Isoform 2 shows a cytoplasmic perinuclear localization in a myoblastic cell line in resting and insulin-stimulated cells.
uniprot
proteins