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Protein

TBC1 domain family member 17

Gene

TBC1D17

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

Functioni

Probable GTPase-activating protein for Rab8; its transient association with Rab8 is mediated by OPTN. Inhibits Rab8-mediated endocytic trafficking, such as of transferrin receptor (TfR) and reduces Rab8 recruitnment to tubules emanating from the endocytic recycling compartment (ERC). Involved in regulation of autophagy. Mediates inhibition of autophagy caused by the OPTN variant GLC1E LYS-50; the function requires its catalytic activity, however, the involved Rab is not known.2 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei377Arginine fingerBy similarity1
Sitei418Glutamine fingerBy similarity1

GO - Molecular functioni

  • GTPase activator activity Source: GO_Central
  • Rab GTPase binding Source: GO_Central

GO - Biological processi

  • activation of GTPase activity Source: GO_Central
  • autophagy Source: UniProtKB-KW
  • intracellular protein transport Source: GO_Central
  • retrograde transport, endosome to Golgi Source: UniProtKB

Keywordsi

Molecular functionGTPase activation
Biological processAutophagy, Protein transport, Transport

Enzyme and pathway databases

ReactomeiR-HSA-8854214 TBC/RABGAPs

Names & Taxonomyi

Protein namesi
Recommended name:
TBC1 domain family member 17
Gene namesi
Name:TBC1D17
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000104946.10
HGNCiHGNC:25699 TBC1D17
MIMi616659 gene
neXtProtiNX_Q9HA65

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

Cytoplasmic vesicle

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi381R → A: Enhances Rab8 localization on ERC tubules and Rab8 interaction with TfR; impairs inhibitory effect on autophagy. 2 Publications1

Organism-specific databases

PharmGKBiPA134922509

Polymorphism and mutation databases

BioMutaiTBC1D17
DMDMi296452920

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002080451 – 648TBC1 domain family member 17Add BLAST648

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei602PhosphoserineCombined sources1
Modified residuei604PhosphoserineCombined sources1
Modified residuei606PhosphothreonineCombined sources1
Modified residuei608PhosphoserineCombined sources1
Modified residuei615PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9HA65
MaxQBiQ9HA65
PaxDbiQ9HA65
PeptideAtlasiQ9HA65
PRIDEiQ9HA65
ProteomicsDBi81379

PTM databases

iPTMnetiQ9HA65
PhosphoSitePlusiQ9HA65

Expressioni

Gene expression databases

BgeeiENSG00000104946 Expressed in 94 organ(s), highest expression level in skeletal muscle tissue
CleanExiHS_TBC1D17
ExpressionAtlasiQ9HA65 baseline and differential
GenevisibleiQ9HA65 HS

Organism-specific databases

HPAiHPA068119

Interactioni

Subunit structurei

Interacts with OPTN.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
OPTNQ96CV97EBI-714625,EBI-748974

GO - Molecular functioni

Protein-protein interaction databases

BioGridi122849, 34 interactors
IntActiQ9HA65, 17 interactors
MINTiQ9HA65
STRINGi9606.ENSP00000221543

Structurei

3D structure databases

ProteinModelPortaliQ9HA65
SMRiQ9HA65
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini310 – 520Rab-GAP TBCPROSITE-ProRule annotationAdd BLAST211

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni218 – 309Required for interaction with OPTN1 PublicationAdd BLAST92

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi596 – 631Pro-richAdd BLAST36

Domaini

The arginine and glutamine fingers are critical for the GTPase-activating mechanism, they pull out Rab's 'switch 2' glutamine and insert in Rab's active site.By similarity

Phylogenomic databases

eggNOGiKOG2197 Eukaryota
COG5210 LUCA
HOGENOMiHOG000012710
HOVERGENiHBG057668
InParanoidiQ9HA65
KOiK19945
OrthoDBiEOG091G04IX
PhylomeDBiQ9HA65
TreeFamiTF314296

Family and domain databases

InterProiView protein in InterPro
IPR021935 DUF3548
IPR000195 Rab-GTPase-TBC_dom
IPR035969 Rab-GTPase_TBC_sf
PfamiView protein in Pfam
PF12068 DUF3548, 1 hit
PF00566 RabGAP-TBC, 1 hit
SMARTiView protein in SMART
SM00164 TBC, 1 hit
SUPFAMiSSF47923 SSF47923, 2 hits
PROSITEiView protein in PROSITE
PS50086 TBC_RABGAP, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9HA65-1) [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
MEGAGYRVVF EKGGVYLHTS AKKYQDRDSL IAGVIRVVEK DNDVLLHWAP
60 70 80 90 100
VEEAGDSTQI LFSKKDSSGG DSCASEEEPT FDPDYEPDWA VISTVRPQLC
110 120 130 140 150
HSEPTRGAEP SCPQGSWAFS VSLGELKSIR RSKPGLSWAY LVLVTQAGGS
160 170 180 190 200
LPALHFHRGG TRALLRVLSR YLLLASSPQD SRLYLVFPHD SSALSNSFHH
210 220 230 240 250
LQLFDQDSSN VVSRFLQDPY STTFSSFSRV TNFFRGALQP QPEGAASDLP
260 270 280 290 300
PPPDDEPEPG FEVISCVELG PRPTVERGPP VTEEEWARHV GPEGRLQQVP
310 320 330 340 350
ELKNRIFSGG LSPSLRREAW KFLLGYLSWE GTAEEHKAHI RKKTDEYFRM
360 370 380 390 400
KLQWKSVSPE QERRNSLLHG YRSLIERDVS RTDRTNKFYE GPENPGLGLL
410 420 430 440 450
NDILLTYCMY HFDLGYVQGM SDLLSPILYV IQNEVDAFWC FCGFMELVQG
460 470 480 490 500
NFEESQETMK RQLGRLLLLL RVLDPLLCDF LDSQDSGSLC FCFRWLLIWF
510 520 530 540 550
KREFPFPDVL RLWEVLWTGL PGPNLHLLVA CAILDMERDT LMLSGFGSNE
560 570 580 590 600
ILKHINELTM KLSVEDVLTR AEALHRQLTA CPELPHNVQE ILGLAPPAEP
610 620 630 640
HSPSPTASPL PLSPTRAPPT PPPSTDTAPQ PDSSLEILPE EEDEGADS
Length:648
Mass (Da):72,728
Last modified:May 18, 2010 - v2
Checksum:i1C09D2272FA95496
GO
Isoform 2 (identifier: Q9HA65-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     8-40: Missing.

Note: No experimental confirmation available.
Show »
Length:615
Mass (Da):69,040
Checksum:i7E14E985970763AF
GO
Isoform 3 (identifier: Q9HA65-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     584-637: Missing.

Show »
Length:594
Mass (Da):67,224
Checksum:i649CBD723039579B
GO

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
M0QYC9M0QYC9_HUMAN
TBC1 domain family member 17
TBC1D17
344Annotation score:
A0A087WXG5A0A087WXG5_HUMAN
TBC1 domain family member 17
TBC1D17
208Annotation score:
M0R2L2M0R2L2_HUMAN
TBC1 domain family member 17
TBC1D17
480Annotation score:
M0QXA2M0QXA2_HUMAN
TBC1 domain family member 17
TBC1D17
75Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06027684D → G3 PublicationsCorresponds to variant dbSNP:rs8109661Ensembl.1
Natural variantiVAR_02465599L → P3 PublicationsCorresponds to variant dbSNP:rs3745486Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0473448 – 40Missing in isoform 2. 1 PublicationAdd BLAST33
Alternative sequenceiVSP_053997584 – 637Missing in isoform 3. 1 PublicationAdd BLAST54

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB449903 mRNA Translation: BAH16646.1
AK022230 mRNA Translation: BAB13991.1
AK300007 mRNA Translation: BAG61824.1
AC118341 Genomic DNA No translation available.
AC118342 Genomic DNA No translation available.
BC003516 mRNA Translation: AAH03516.1
CCDSiCCDS12785.1 [Q9HA65-1]
CCDS54294.1 [Q9HA65-2]
RefSeqiNP_001161694.1, NM_001168222.1
NP_078958.2, NM_024682.2
UniGeneiHs.631587

Genome annotation databases

EnsembliENST00000221543; ENSP00000221543; ENSG00000104946
ENST00000535102; ENSP00000446323; ENSG00000104946
GeneIDi79735
KEGGihsa:79735
UCSCiuc002pqo.4 human [Q9HA65-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB449903 mRNA Translation: BAH16646.1
AK022230 mRNA Translation: BAB13991.1
AK300007 mRNA Translation: BAG61824.1
AC118341 Genomic DNA No translation available.
AC118342 Genomic DNA No translation available.
BC003516 mRNA Translation: AAH03516.1
CCDSiCCDS12785.1 [Q9HA65-1]
CCDS54294.1 [Q9HA65-2]
RefSeqiNP_001161694.1, NM_001168222.1
NP_078958.2, NM_024682.2
UniGeneiHs.631587

3D structure databases

ProteinModelPortaliQ9HA65
SMRiQ9HA65
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122849, 34 interactors
IntActiQ9HA65, 17 interactors
MINTiQ9HA65
STRINGi9606.ENSP00000221543

PTM databases

iPTMnetiQ9HA65
PhosphoSitePlusiQ9HA65

Polymorphism and mutation databases

BioMutaiTBC1D17
DMDMi296452920

Proteomic databases

EPDiQ9HA65
MaxQBiQ9HA65
PaxDbiQ9HA65
PeptideAtlasiQ9HA65
PRIDEiQ9HA65
ProteomicsDBi81379

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000221543; ENSP00000221543; ENSG00000104946
ENST00000535102; ENSP00000446323; ENSG00000104946
GeneIDi79735
KEGGihsa:79735
UCSCiuc002pqo.4 human [Q9HA65-1]

Organism-specific databases

CTDi79735
EuPathDBiHostDB:ENSG00000104946.10
GeneCardsiTBC1D17
HGNCiHGNC:25699 TBC1D17
HPAiHPA068119
MIMi616659 gene
neXtProtiNX_Q9HA65
PharmGKBiPA134922509
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2197 Eukaryota
COG5210 LUCA
HOGENOMiHOG000012710
HOVERGENiHBG057668
InParanoidiQ9HA65
KOiK19945
OrthoDBiEOG091G04IX
PhylomeDBiQ9HA65
TreeFamiTF314296

Enzyme and pathway databases

ReactomeiR-HSA-8854214 TBC/RABGAPs

Miscellaneous databases

ChiTaRSiTBC1D17 human
GenomeRNAii79735
PROiPR:Q9HA65
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000104946 Expressed in 94 organ(s), highest expression level in skeletal muscle tissue
CleanExiHS_TBC1D17
ExpressionAtlasiQ9HA65 baseline and differential
GenevisibleiQ9HA65 HS

Family and domain databases

InterProiView protein in InterPro
IPR021935 DUF3548
IPR000195 Rab-GTPase-TBC_dom
IPR035969 Rab-GTPase_TBC_sf
PfamiView protein in Pfam
PF12068 DUF3548, 1 hit
PF00566 RabGAP-TBC, 1 hit
SMARTiView protein in SMART
SM00164 TBC, 1 hit
SUPFAMiSSF47923 SSF47923, 2 hits
PROSITEiView protein in PROSITE
PS50086 TBC_RABGAP, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiTBC17_HUMAN
AccessioniPrimary (citable) accession number: Q9HA65
Secondary accession number(s): B4DT12, B9A6L8, F5H1W7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 15, 2005
Last sequence update: May 18, 2010
Last modified: November 7, 2018
This is version 128 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

Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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