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Protein

TBC1 domain family member 1

Gene

TBC1D1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Keywordsi

Molecular functionGTPase activation

Enzyme and pathway databases

ReactomeiR-HSA-1445148 Translocation of SLC2A4 (GLUT4) to the plasma membrane
SIGNORiQ86TI0

Protein family/group databases

TCDBi8.A.87.1.4 the tbc1 domain (tbc1) family

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

EuPathDBiHostDB:ENSG00000065882.15
HGNCiHGNC:11578 TBC1D1
MIMi609850 gene
neXtProtiNX_Q86TI0

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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
ProteomicsDBi69696

PTM databases

iPTMnetiQ86TI0
PhosphoSitePlusiQ86TI0

Expressioni

Gene expression databases

BgeeiENSG00000065882 Expressed in 219 organ(s), highest expression level in body of uterus
CleanExiHS_TBC1D1
ExpressionAtlasiQ86TI0 baseline and differential
GenevisibleiQ86TI0 HS

Organism-specific databases

HPAiHPA041816
HPA058158

Interactioni

GO - Molecular functioni

Protein-protein interaction databases

BioGridi116823, 20 interactors
IntActiQ86TI0, 34 interactors
MINTiQ86TI0
STRINGi9606.ENSP00000261439

Structurei

Secondary structure

11168
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

Phylogenomic databases

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

Family and domain databases

Gene3Di2.30.29.30, 2 hits
InterProiView protein in InterPro
IPR021785 DUF3350
IPR011993 PH-like_dom_sf
IPR006020 PTB/PI_dom
IPR000195 Rab-GTPase-TBC_dom
IPR035969 Rab-GTPase_TBC_sf
PfamiView protein in Pfam
PF11830 DUF3350, 1 hit
PF00640 PID, 1 hit
PF00566 RabGAP-TBC, 1 hit
SMARTiView protein in SMART
SM00462 PTB, 2 hits
SM00164 TBC, 1 hit
SUPFAMiSSF47923 SSF47923, 2 hits
PROSITEiView protein in PROSITE
PS01179 PID, 1 hit
PS50086 TBC_RABGAP, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

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

This entry has 2 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y8P0H0Y8P0_HUMAN
TBC1 domain family member 1
TBC1D1
856Annotation score:
A0JNU9A0JNU9_HUMAN
TBC1 domain family member 1
TBC1D1
432Annotation score:
C9JIE2C9JIE2_HUMAN
TBC1 domain family member 1
TBC1D1
599Annotation score:
B5MCJ2B5MCJ2_HUMAN
TBC1 domain family member 1
TBC1D1
144Annotation score:
H7C380H7C380_HUMAN
TBC1 domain family member 1
TBC1D1
226Annotation score:
H0YA01H0YA01_HUMAN
TBC1 domain family member 1
TBC1D1
177Annotation score:
H7C0Z7H7C0Z7_HUMAN
TBC1 domain family member 1
TBC1D1
252Annotation score:

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 → P1 PublicationCorresponds to variant dbSNP:rs2279027Ensembl.1
Natural variantiVAR_02809055T → I. Corresponds to variant dbSNP:rs4008480Ensembl.1
Natural variantiVAR_054392125R → W May be associated with risk of familial obesity. 2 PublicationsCorresponds to variant dbSNP:rs35859249Ensembl.1
Natural variantiVAR_028091228V → G. Corresponds to variant dbSNP:rs10501Ensembl.1
Natural variantiVAR_028092685Y → S. Corresponds to variant dbSNP:rs7677030Ensembl.1
Natural variantiVAR_0280931136R → Q. Corresponds to variant dbSNP:rs13110318Ensembl.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

Similar proteinsi

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, 20 interactors
IntActiQ86TI0, 34 interactors
MINTiQ86TI0
STRINGi9606.ENSP00000261439

Protein family/group databases

TCDBi8.A.87.1.4 the tbc1 domain (tbc1) family

PTM databases

iPTMnetiQ86TI0
PhosphoSitePlusiQ86TI0

Polymorphism and mutation databases

BioMutaiTBC1D1
DMDMi116242816

Proteomic databases

EPDiQ86TI0
MaxQBiQ86TI0
PaxDbiQ86TI0
PeptideAtlasiQ86TI0
PRIDEiQ86TI0
ProteomicsDBi69696

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
EuPathDBiHostDB:ENSG00000065882.15
GeneCardsiTBC1D1
H-InvDBiHIX0004155
HGNCiHGNC:11578 TBC1D1
HPAiHPA041816
HPA058158
MIMi609850 gene
neXtProtiNX_Q86TI0
OpenTargetsiENSG00000065882
PharmGKBiPA36342
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

ReactomeiR-HSA-1445148 Translocation of SLC2A4 (GLUT4) to the plasma membrane
SIGNORiQ86TI0

Miscellaneous databases

ChiTaRSiTBC1D1 human
GeneWikiiTBC1D1
GenomeRNAii23216
PROiPR:Q86TI0
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000065882 Expressed in 219 organ(s), highest expression level in body of uterus
CleanExiHS_TBC1D1
ExpressionAtlasiQ86TI0 baseline and differential
GenevisibleiQ86TI0 HS

Family and domain databases

Gene3Di2.30.29.30, 2 hits
InterProiView protein in InterPro
IPR021785 DUF3350
IPR011993 PH-like_dom_sf
IPR006020 PTB/PI_dom
IPR000195 Rab-GTPase-TBC_dom
IPR035969 Rab-GTPase_TBC_sf
PfamiView protein in Pfam
PF11830 DUF3350, 1 hit
PF00640 PID, 1 hit
PF00566 RabGAP-TBC, 1 hit
SMARTiView protein in SMART
SM00462 PTB, 2 hits
SM00164 TBC, 1 hit
SUPFAMiSSF47923 SSF47923, 2 hits
PROSITEiView protein in PROSITE
PS01179 PID, 1 hit
PS50086 TBC_RABGAP, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiTBCD1_HUMAN
AccessioniPrimary (citable) accession number: Q86TI0
Secondary accession number(s): B7Z3D9
, E9PGH8, Q96K82, Q9UPP4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 3, 2003
Last sequence update: October 17, 2006
Last modified: September 12, 2018
This is version 149 of the entry and version 2 of the sequence. See 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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