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Protein

TBC1 domain family member 1

Gene

TBC1D1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

May act as a GTPase-activating protein for Rab family protein(s). May play a role in the cell cycle and differentiation of various tissues. Involved in the trafficking and translocation of GLUT4-containing vesicles and insulin-stimulated glucose uptake into cells (By similarity).By similarity

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

GTPase activation

Enzyme and pathway databases

ReactomeiR-HSA-1445148. Translocation of GLUT4 to the plasma membrane.
SIGNORiQ86TI0.

Names & Taxonomyi

Protein namesi
Recommended name:
TBC1 domain family member 1
Gene namesi
Name:TBC1D1
Synonyms:KIAA1108
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

HGNCiHGNC:11578. TBC1D1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi930M → A: Substantially reduced RabGAP GTPase hydrolysis activity. 1 Publication1
Mutagenesisi1019L → A: Substantially reduced RabGAP GTPase hydrolysis activity. 1 Publication1

Organism-specific databases

DisGeNETi23216.
OpenTargetsiENSG00000065882.
PharmGKBiPA36342.

Polymorphism and mutation databases

BioMutaiTBC1D1.
DMDMi116242816.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002080221 – 1168TBC1 domain family member 1Add BLAST1168

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei146PhosphoserineBy similarity1
Modified residuei235Phosphoserine; by PKB/AKT1By similarity1
Modified residuei237PhosphoserineCombined sources1
Modified residuei503PhosphoserineBy similarity1
Modified residuei505Phosphothreonine; by PKB/AKT1By similarity1
Modified residuei507PhosphoserineCombined sources1
Modified residuei525PhosphoserineBy similarity1
Modified residuei527PhosphoserineBy similarity1
Modified residuei565PhosphoserineCombined sources1
Modified residuei566PhosphoserineBy similarity1
Modified residuei570PhosphoserineCombined sources1
Modified residuei571PhosphoserineBy similarity1
Modified residuei585PhosphoserineCombined sources1
Modified residuei596PhosphothreonineBy similarity1
Modified residuei614PhosphoserineBy similarity1
Modified residuei627Phosphoserine; by PKB/AKT1By similarity1
Modified residuei695PhosphoserineBy similarity1
Modified residuei941PhosphoserineBy similarity1
Modified residuei952PhosphotyrosineBy similarity1
Modified residuei1131PhosphothreonineBy similarity1

Post-translational modificationi

Insulin-stimulated phosphorylation by AKT family kinases stimulates SLC2A4/GLUT4 translocation.By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ86TI0.
MaxQBiQ86TI0.
PaxDbiQ86TI0.
PeptideAtlasiQ86TI0.
PRIDEiQ86TI0.

PTM databases

iPTMnetiQ86TI0.
PhosphoSitePlusiQ86TI0.

Expressioni

Gene expression databases

BgeeiENSG00000065882.
CleanExiHS_TBC1D1.
ExpressionAtlasiQ86TI0. baseline and differential.
GenevisibleiQ86TI0. HS.

Organism-specific databases

HPAiHPA041816.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
CALM3P621584EBI-1644036,EBI-397435

GO - Molecular functioni

Protein-protein interaction databases

BioGridi116823. 11 interactors.
IntActiQ86TI0. 29 interactors.
MINTiMINT-1193089.
STRINGi9606.ENSP00000261439.

Structurei

Secondary structure

11168
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi751 – 757Combined sources7
Helixi768 – 778Combined sources11
Helixi783 – 785Combined sources3
Helixi790 – 798Combined sources9
Helixi803 – 805Combined sources3
Helixi806 – 820Combined sources15
Beta strandi825 – 827Combined sources3
Helixi834 – 837Combined sources4
Helixi845 – 852Combined sources8
Turni860 – 862Combined sources3
Helixi868 – 883Combined sources16
Turni885 – 887Combined sources3
Helixi893 – 901Combined sources9
Helixi906 – 917Combined sources12
Turni918 – 920Combined sources3
Helixi922 – 926Combined sources5
Helixi931 – 947Combined sources17
Helixi949 – 957Combined sources9
Helixi962 – 964Combined sources3
Helixi967 – 971Combined sources5
Turni973 – 977Combined sources5
Helixi980 – 993Combined sources14
Helixi997 – 1008Combined sources12
Helixi1010 – 1014Combined sources5
Helixi1019 – 1028Combined sources10
Turni1029 – 1031Combined sources3
Helixi1035 – 1047Combined sources13
Helixi1051 – 1065Combined sources15

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3QYEX-ray2.20A/B746-1072[»]
ProteinModelPortaliQ86TI0.
SMRiQ86TI0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini246 – 404PIDPROSITE-ProRule annotationAdd BLAST159
Domaini800 – 994Rab-GAP TBCPROSITE-ProRule annotationAdd BLAST195

Sequence similaritiesi

Contains 1 PID domain.PROSITE-ProRule annotation
Contains 1 Rab-GAP TBC domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG4436. Eukaryota.
ENOG410YWJY. LUCA.
GeneTreeiENSGT00750000117238.
HOGENOMiHOG000090019.
HOVERGENiHBG059376.
InParanoidiQ86TI0.
KOiK18341.
OMAiKFNHVSC.
OrthoDBiEOG091G01QW.
PhylomeDBiQ86TI0.
TreeFamiTF317184.

Family and domain databases

Gene3Di2.30.29.30. 3 hits.
InterProiIPR021785. DUF3350.
IPR011993. PH_dom-like.
IPR006020. PTB/PI_dom.
IPR000195. Rab-GTPase-TBC_dom.
[Graphical view]
PfamiPF11830. DUF3350. 1 hit.
PF00640. PID. 1 hit.
PF00566. RabGAP-TBC. 1 hit.
[Graphical view]
SMARTiSM00462. PTB. 2 hits.
SM00164. TBC. 1 hit.
[Graphical view]
SUPFAMiSSF47923. SSF47923. 2 hits.
SSF50729. SSF50729. 3 hits.
PROSITEiPS01179. PID. 1 hit.
PS50086. TBC_RABGAP. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q86TI0-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MEPITFTARK HLLSNEVSVD FGLQLVGSLP VHSLTTMPML PWVVAEVRRL
60 70 80 90 100
SRQSTRKEPV TKQVRLCVSP SGLRCEPEPG RSQQWDPLIY SSIFECKPQR
110 120 130 140 150
VHKLIHNSHD PSYFACLIKE DAVHRQSICY VFKADDQTKV PEIISSIRQA
160 170 180 190 200
GKIARQEELH CPSEFDDTFS KKFEVLFCGR VTVAHKKAPP ALIDECIEKF
210 220 230 240 250
NHVSGSRGSE SPRPNPPHAA PTGSQEPVRR PMRKSFSQPG LRSLAFRKEL
260 270 280 290 300
QDGGLRSSGF FSSFEESDIE NHLISGHNIV QPTDIEENRT MLFTIGQSEV
310 320 330 340 350
YLISPDTKKI ALEKNFKEIS FCSQGIRHVD HFGFICRESS GGGGFHFVCY
360 370 380 390 400
VFQCTNEALV DEIMMTLKQA FTVAAVQQTA KAPAQLCEGC PLQSLHKLCE
410 420 430 440 450
RIEGMNSSKT KLELQKHLTT LTNQEQATIF EEVQKLRPRN EQRENELIIS
460 470 480 490 500
FLRCLYEEKQ KEHIHIGEMK QTSQMAAENI GSELPPSATR FRLDMLKNKA
510 520 530 540 550
KRSLTESLES ILSRGNKARG LQEHSISVDL DSSLSSTLSN TSKEPSVCEK
560 570 580 590 600
EALPISESSF KLLGSSEDLS SDSESHLPEE PAPLSPQQAF RRRANTLSHF
610 620 630 640 650
PIECQEPPQP ARGSPGVSQR KLMRYHSVST ETPHERKDFE SKANHLGDSG
660 670 680 690 700
GTPVKTRRHS WRQQIFLRVA TPQKACDSSS RYEDYSELGE LPPRSPLEPV
710 720 730 740 750
CEDGPFGPPP EEKKRTSREL RELWQKAILQ QILLLRMEKE NQKLQASEND
760 770 780 790 800
LLNKRLKLDY EEITPCLKEV TTVWEKMLST PGRSKIKFDM EKMHSAVGQG
810 820 830 840 850
VPRHHRGEIW KFLAEQFHLK HQFPSKQQPK DVPYKELLKQ LTSQQHAILI
860 870 880 890 900
DLGRTFPTHP YFSAQLGAGQ LSLYNILKAY SLLDQEVGYC QGLSFVAGIL
910 920 930 940 950
LLHMSEEEAF KMLKFLMFDM GLRKQYRPDM IILQIQMYQL SRLLHDYHRD
960 970 980 990 1000
LYNHLEEHEI GPSLYAAPWF LTMFASQFPL GFVARVFDMI FLQGTEVIFK
1010 1020 1030 1040 1050
VALSLLGSHK PLILQHENLE TIVDFIKSTL PNLGLVQMEK TINQVFEMDI
1060 1070 1080 1090 1100
AKQLQAYEVE YHVLQEELID SSPLSDNQRM DKLEKTNSSL RKQNLDLLEQ
1110 1120 1130 1140 1150
LQVANGRIQS LEATIEKLLS SESKLKQAML TLELERSALL QTVEELRRRS
1160
AEPSDREPEC TQPEPTGD
Length:1,168
Mass (Da):133,084
Last modified:October 17, 2006 - v2
Checksum:i5EFEA168F04C88E0
GO
Isoform 2 (identifier: Q86TI0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     637-637: K → NVDPSPVGES...NTSDFMNTKR
     934-1036: Missing.

Note: No experimental confirmation available.
Show »
Length:1,159
Mass (Da):131,378
Checksum:iA7CE3F7ED898D87C
GO

Sequence cautioni

The sequence BAB55057 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti730Q → K in AAH50321 (PubMed:15489334).Curated1
Sequence conflicti1095L → H in BAH12175 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02808914S → P.1 PublicationCorresponds to variant rs2279027dbSNPEnsembl.1
Natural variantiVAR_02809055T → I.Corresponds to variant rs4008480dbSNPEnsembl.1
Natural variantiVAR_054392125R → W May be associated with risk of familial obesity. 2 PublicationsCorresponds to variant rs35859249dbSNPEnsembl.1
Natural variantiVAR_028091228V → G.Corresponds to variant rs10501dbSNPEnsembl.1
Natural variantiVAR_028092685Y → S.Corresponds to variant rs7677030dbSNPEnsembl.1
Natural variantiVAR_0280931136R → Q.Corresponds to variant rs13110318dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_044749637K → NVDPSPVGESKHRPGQSSAP APPPRLNPSASSPNFFKYLK HNSSGEQSGNAVPKSISYRN ALRKKLHSSSSVPNFLKFLA PVDENNTSDFMNTKR in isoform 2. 1 Publication1
Alternative sequenceiVSP_044750934 – 1036Missing in isoform 2. 1 PublicationAdd BLAST103

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK027355 mRNA. Translation: BAB55057.1. Different initiation.
AK295746 mRNA. Translation: BAH12175.1.
AC021106 Genomic DNA. No translation available.
AC098680 Genomic DNA. No translation available.
AC108933 Genomic DNA. No translation available.
BC050321 mRNA. Translation: AAH50321.3.
AB029031 mRNA. Translation: BAA83060.1.
CCDSiCCDS33972.1. [Q86TI0-1]
CCDS58897.1. [Q86TI0-2]
RefSeqiNP_001240841.1. NM_001253912.1. [Q86TI0-2]
NP_055988.2. NM_015173.3. [Q86TI0-1]
UniGeneiHs.176503.

Genome annotation databases

EnsembliENST00000261439; ENSP00000261439; ENSG00000065882. [Q86TI0-1]
ENST00000508802; ENSP00000423651; ENSG00000065882. [Q86TI0-2]
GeneIDi23216.
KEGGihsa:23216.
UCSCiuc003gtb.4. human. [Q86TI0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK027355 mRNA. Translation: BAB55057.1. Different initiation.
AK295746 mRNA. Translation: BAH12175.1.
AC021106 Genomic DNA. No translation available.
AC098680 Genomic DNA. No translation available.
AC108933 Genomic DNA. No translation available.
BC050321 mRNA. Translation: AAH50321.3.
AB029031 mRNA. Translation: BAA83060.1.
CCDSiCCDS33972.1. [Q86TI0-1]
CCDS58897.1. [Q86TI0-2]
RefSeqiNP_001240841.1. NM_001253912.1. [Q86TI0-2]
NP_055988.2. NM_015173.3. [Q86TI0-1]
UniGeneiHs.176503.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3QYEX-ray2.20A/B746-1072[»]
ProteinModelPortaliQ86TI0.
SMRiQ86TI0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116823. 11 interactors.
IntActiQ86TI0. 29 interactors.
MINTiMINT-1193089.
STRINGi9606.ENSP00000261439.

PTM databases

iPTMnetiQ86TI0.
PhosphoSitePlusiQ86TI0.

Polymorphism and mutation databases

BioMutaiTBC1D1.
DMDMi116242816.

Proteomic databases

EPDiQ86TI0.
MaxQBiQ86TI0.
PaxDbiQ86TI0.
PeptideAtlasiQ86TI0.
PRIDEiQ86TI0.

Protocols and materials databases

DNASUi23216.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000261439; ENSP00000261439; ENSG00000065882. [Q86TI0-1]
ENST00000508802; ENSP00000423651; ENSG00000065882. [Q86TI0-2]
GeneIDi23216.
KEGGihsa:23216.
UCSCiuc003gtb.4. human. [Q86TI0-1]

Organism-specific databases

CTDi23216.
DisGeNETi23216.
GeneCardsiTBC1D1.
H-InvDBHIX0004155.
HGNCiHGNC:11578. TBC1D1.
HPAiHPA041816.
MIMi609850. gene.
neXtProtiNX_Q86TI0.
OpenTargetsiENSG00000065882.
PharmGKBiPA36342.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4436. Eukaryota.
ENOG410YWJY. LUCA.
GeneTreeiENSGT00750000117238.
HOGENOMiHOG000090019.
HOVERGENiHBG059376.
InParanoidiQ86TI0.
KOiK18341.
OMAiKFNHVSC.
OrthoDBiEOG091G01QW.
PhylomeDBiQ86TI0.
TreeFamiTF317184.

Enzyme and pathway databases

ReactomeiR-HSA-1445148. Translocation of GLUT4 to the plasma membrane.
SIGNORiQ86TI0.

Miscellaneous databases

ChiTaRSiTBC1D1. human.
GeneWikiiTBC1D1.
GenomeRNAii23216.
PROiQ86TI0.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000065882.
CleanExiHS_TBC1D1.
ExpressionAtlasiQ86TI0. baseline and differential.
GenevisibleiQ86TI0. HS.

Family and domain databases

Gene3Di2.30.29.30. 3 hits.
InterProiIPR021785. DUF3350.
IPR011993. PH_dom-like.
IPR006020. PTB/PI_dom.
IPR000195. Rab-GTPase-TBC_dom.
[Graphical view]
PfamiPF11830. DUF3350. 1 hit.
PF00640. PID. 1 hit.
PF00566. RabGAP-TBC. 1 hit.
[Graphical view]
SMARTiSM00462. PTB. 2 hits.
SM00164. TBC. 1 hit.
[Graphical view]
SUPFAMiSSF47923. SSF47923. 2 hits.
SSF50729. SSF50729. 3 hits.
PROSITEiPS01179. PID. 1 hit.
PS50086. TBC_RABGAP. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTBCD1_HUMAN
AccessioniPrimary (citable) accession number: Q86TI0
Secondary accession number(s): B7Z3D9
, E9PGH8, Q96K82, Q9UPP4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 3, 2003
Last sequence update: October 17, 2006
Last modified: November 30, 2016
This is version 134 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.