Reactome | UniProt:O60343 TBC1D4

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UniProt:O60343 TBC1D4 Show undefined attributes

chain	chain:1-1298
checksum	8DC70CE887C0B311
comment	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.INTERACTION Isoform 2 shows a cytoplasmic perinuclear localization in a myoblastic cell line in resting and insulin-stimulated cells.ALTERNATIVE PRODUCTS Widely expressed. Isoform 2 is the highest overexpressed in most tissues. Isoform 1 is highly expressed in skeletal muscle and heart, but was not detectable in the liver nor in adipose tissue. Isoform 2 is strongly expressed in adrenal and thyroid gland, and also in lung, kidney, colon, brain and adipose tissue. Isoform 2 is moderately expressed in skeletal muscle. Expressed in pancreatic Langerhans islets, including beta cells (at protein level). Expression is decreased by twofold in pancreatic islets in type 2 diabetes patients compared to control subjects. Up-regulated in T-cells from patients with atopic dermatitis.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.DISEASE Disease susceptibility is associated with variants affecting the gene represented in this entry.SEQUENCE CAUTION Truncated N-terminus.
crossReference	[DatabaseIdentifier:11482265] ENSEMBL:ENSG00000136111 [DatabaseIdentifier:11583753] ENSEMBL:ENSP00000366863 [DatabaseIdentifier:11583755] ENSEMBL:ENSP00000395986 [DatabaseIdentifier:11583754] ENSEMBL:ENSP00000366852 [DatabaseIdentifier:11706454] ENSEMBL:ENST00000377625 [DatabaseIdentifier:11706452] ENSEMBL:ENST00000431480 [DatabaseIdentifier:11706453] ENSEMBL:ENST00000377636 [DatabaseIdentifier:11794625] GeneCards:TBC1D4 [DatabaseIdentifier:11810585] GlyGen:O60343 [DatabaseIdentifier:11847595] HPA:ENSG00000136111-TBC1D4 [DatabaseIdentifier:12132277] OpenTargets:ENSG00000136111 [DatabaseIdentifier:12223502] PDB:3QYB [DatabaseIdentifier:12148196] PDB:7NIX [DatabaseIdentifier:12275483] PRO:O60343 [DatabaseIdentifier:12292448] Pharos - Targets:O60343 [DatabaseIdentifier:12389635] RefSeq:NP_001273587.1 [DatabaseIdentifier:12389633] RefSeq:NP_055647.2 [DatabaseIdentifier:12389632] RefSeq:NP_001273588.1 [DatabaseIdentifier:12389634] RefSeq:XP_047286768.1 [DatabaseIdentifier:12389636] RefSeq:XP_054231210.1
databaseName	UniProt
dbId	65697
description	recommendedName: TBC1 domain family member 4 alternativeName: Akt substrate of 160 kDa shortName: AS160
displayName	UniProt:O60343 TBC1D4
geneName	TBC1D4 AS160 KIAA0603
identifier	O60343
isSequenceChanged	false
keyword	3D-structure Acetylation Alternative splicing Cytoplasm Diabetes mellitus GTPase activation Methylation Phosphoprotein Proteomics identification Reference proteome Repeat
modified	[InstanceEdit:9926675] Weiser, Joel, 2024-11-03
moleculeType	Protein
name	TBC1D4
otherIdentifier	11731503_at 11746744_a_at 16779792 203386_PM_at 203386_at 203387_PM_s_at 203387_s_at 34672_at 3518087 3518088 3518089 3518090 3518091 3518092 3518093 3518094 3518095 3518097 3518098 3518099 3518100 3518104 3518105 3518106 3518109 3518110 3518112 3518113 3518115 3518116 3518117 3518118 3518119 3518120 3518121 3518123 3518124 3518125 3518126 3518127 3518128 3518154 3518155 3518156 3518157 3518158 63390_at 7972021 9882 A_23_P88095 GE53304 GO:0005096 GO:0005515 GO:0005737 GO:0005794 GO:0005829 GO:0016192 GO:0031339 GO:0031982 GO:0032869 GO:0043226 GO:0098772 HMNXSV003029558 Hs.173802.0.S2_3p_at ILMN_1688098 PH_hs_0035645 TC13000738.hg g7662197_3p_a_at
physicalEntity	[EntityWithAccessionedSequence:R-HSA-1445122] TBC1D4 [cytoplasmic vesicle membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-1445101] p-5S,T642-TBC1D4 [cytoplasmic vesicle membrane] - Homo sapiens
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:ensembl:ENSG00000136111] ENSEMBL:ENSG00000136111 TBC1D4 [ReferenceDNASequence:12743337] UCSC:O60343 TBC1D4 [ReferenceDNASequence:11347716] BioGPS Gene:9882 TBC1D4 [ReferenceDNASequence:11400229] COSMIC - genes:TBC1D4 TBC1D4 [ReferenceDNASequence:11423424] CTD Gene:9882 TBC1D4 [ReferenceDNASequence:11437354] dbSNP Gene:9882 TBC1D4 [ReferenceDNASequence:11826321] HGNC:19165 TBC1D4 [ReferenceDNASequence:11887724] KEGG:hsa:9882 TBC1D4 [ReferenceDNASequence:11977505] Monarch:9882 TBC1D4 [ReferenceDNASequence:12061598] NCBI Gene:9882 TBC1D4 [ReferenceDNASequence:12116650] OMIM:612465 TBC1D4
referenceTranscript	[ReferenceRNASequence:12571409] RefSeq:NM_014832.5 TBC1D4 [ReferenceRNASequence:12571408] RefSeq:NM_001286658.2 TBC1D4 [ReferenceRNASequence:12571411] RefSeq:NM_001286659.2 TBC1D4 [ReferenceRNASequence:12571407] RefSeq:XM_054375235.1 TBC1D4 [ReferenceRNASequence:12571410] RefSeq:XM_047430812.1 TBC1D4
schemaClass	ReferenceGeneProduct
secondaryIdentifier	TBCD4_HUMAN A7E2X8 B4DU25 B4E235 B6ETN8 B6ETN9 Q5W0B9 Q68D14
sequenceLength	1298
species	[Species:48887] Homo sapiens
stId	uniprot:O60343
url	http://purl.uniprot.org/uniprot/O60343

Referrals

(referenceEntity)	[EntityWithAccessionedSequence:R-HSA-1445122] TBC1D4 [cytoplasmic vesicle membrane] [EntityWithAccessionedSequence:R-HSA-1445101] p-5S,T642-TBC1D4 [cytoplasmic vesicle membrane]
(referenceSequence)	[ModifiedResidue:1445094] O-phospho-L-serine at 570 [ModifiedResidue:1445090] O-phospho-L-serine at 341 [ModifiedResidue:1445104] O-phospho-L-serine at 751 [ModifiedResidue:1445099] O-phospho-L-serine at 318 [ModifiedResidue:1445112] O-phospho-L-serine at 588 [ModifiedResidue:1445097] O-phospho-L-threonine at 642
(interactor)	[UndirectedInteraction:11139091] UniProt:P31946 <-> UniProt:O60343 (IntAct) [UndirectedInteraction:11202969] UniProt:P31947 <-> UniProt:O60343 (IntAct) [UndirectedInteraction:11243395] UniProt:P61981 <-> UniProt:O60343 (IntAct) [UndirectedInteraction:11264647] UniProt:P62258 <-> UniProt:O60343 (IntAct) [UndirectedInteraction:11288079] UniProt:P63104 <-> UniProt:O60343 (IntAct)