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Aliases for TBC1D17 Gene

Aliases for TBC1D17 Gene

  • TBC1 Domain Family Member 17 2 3 5
  • TBC1 Domain Family, Member 17 2

External Ids for TBC1D17 Gene

Previous GeneCards Identifiers for TBC1D17 Gene

  • GC19P055072
  • GC19P050380
  • GC19P046757

Summaries for TBC1D17 Gene

GeneCards Summary for TBC1D17 Gene

TBC1D17 (TBC1 Domain Family Member 17) is a Protein Coding gene. Among its related pathways are Mitophagy - animal and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include GTPase activator activity. An important paralog of this gene is TBC1D15.

UniProtKB/Swiss-Prot for TBC1D17 Gene

  • 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.

Additional gene information for TBC1D17 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBC1D17 Gene

Genomics for TBC1D17 Gene

GeneHancer (GH) Regulatory Elements for TBC1D17 Gene

Promoters and enhancers for TBC1D17 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19I049874 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 -0.7 -691 5.2 CLOCK MLX DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 ZNF263 SP3 PNKP AKT1S1 PIR46791 TBC1D17 NUP62 POLD1 PTOV1-AS2 SNORD35A IRF3 ALDH16A1
GH19I049910 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 12.3 +34.6 34563 3.9 HDGF CTCF PKNOX1 FOXA2 ARID4B EBF1 BATF IRF4 RAD21 RELA AKT1S1 TBC1D17 PTOV1 ENSG00000221125 NUP62 NR1H2 IL4I1 ATF5 FCGRT RPS11
GH19I049894 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 5.3 +19.2 19203 4.1 HDGF PKNOX1 ATF1 IRF4 ZNF766 GLIS2 ZNF143 ATF7 FOS RUNX3 IL4I1 NUP62 POLD1 AKT1S1 MED25 NR1H2 PNKP PTOV1-AS2 ATF5 TBC1D17
GH19I049905 Enhancer 0.6 ENCODE 12.3 +29.1 29149 1.2 PKNOX1 ZNF687 BACH1 POLR2A IKZF1 ZNF143 ZFP36 SUPT5H PIR32099 AKT1S1 TBC1D17 PTOV1 ENSG00000221125 ATF5 IL4I1 MIR4750 NUP62
GH19I049908 Enhancer 0.4 ENCODE 12.3 +30.8 30794 0.2 PKNOX1 ZBTB6 EBF1 PIR32099 AKT1S1 TBC1D17 PTOV1 ENSG00000221125 ATF5 IL4I1 NUP62
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TBC1D17 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TBC1D17 gene promoter:

Genomic Locations for TBC1D17 Gene

Genomic Locations for TBC1D17 Gene
chr19:49,877,425-49,888,750
(GRCh38/hg38)
Size:
11,326 bases
Orientation:
Plus strand
chr19:50,380,682-50,392,007
(GRCh37/hg19)

Genomic View for TBC1D17 Gene

Genes around TBC1D17 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBC1D17 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBC1D17 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBC1D17 Gene

Proteins for TBC1D17 Gene

  • Protein details for TBC1D17 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HA65-TBC17_HUMAN
    Recommended name:
    TBC1 domain family member 17
    Protein Accession:
    Q9HA65
    Secondary Accessions:
    • B4DT12
    • B9A6L8
    • F5H1W7

    Protein attributes for TBC1D17 Gene

    Size:
    648 amino acids
    Molecular mass:
    72728 Da
    Quaternary structure:
    • Interacts with OPTN.

    Alternative splice isoforms for TBC1D17 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TBC1D17 Gene

Post-translational modifications for TBC1D17 Gene

  • Ubiquitination at isoforms=323
  • Modification sites at PhosphoSitePlus

Other Protein References for TBC1D17 Gene

No data available for DME Specific Peptides for TBC1D17 Gene

Domains & Families for TBC1D17 Gene

Gene Families for TBC1D17 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for TBC1D17 Gene

Suggested Antigen Peptide Sequences for TBC1D17 Gene

Graphical View of Domain Structure for InterPro Entry

Q9HA65

UniProtKB/Swiss-Prot:

TBC17_HUMAN :
  • The arginine and glutamine fingers are critical for the GTPase-activating mechanism, they pull out Rabs switch 2 glutamine and insert in Rabs active site.
Domain:
  • The arginine and glutamine fingers are critical for the GTPase-activating mechanism, they pull out Rabs switch 2 glutamine and insert in Rabs active site.
genes like me logo Genes that share domains with TBC1D17: view

Function for TBC1D17 Gene

Molecular function for TBC1D17 Gene

UniProtKB/Swiss-Prot Function:
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.

Gene Ontology (GO) - Molecular Function for TBC1D17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IBA --
GO:0005515 protein binding IPI 16189514
GO:0017137 Rab GTPase binding IBA --
genes like me logo Genes that share ontologies with TBC1D17: view
genes like me logo Genes that share phenotypes with TBC1D17: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TBC1D17 Gene

Localization for TBC1D17 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBC1D17 Gene

Cytoplasmic vesicle, autophagosome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TBC1D17 gene
Compartment Confidence
cytosol 5
endosome 5
nucleus 2

Gene Ontology (GO) - Cellular Components for TBC1D17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005776 autophagosome IEA --
GO:0005829 cytosol IDA 17562788
GO:0012505 endomembrane system IBA --
GO:0031410 cytoplasmic vesicle IEA --
GO:0055037 recycling endosome TAS --
genes like me logo Genes that share ontologies with TBC1D17: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TBC1D17 Gene

Pathways & Interactions for TBC1D17 Gene

genes like me logo Genes that share pathways with TBC1D17: view

Pathways by source for TBC1D17 Gene

3 Reactome pathways for TBC1D17 Gene
1 KEGG pathway for TBC1D17 Gene

Gene Ontology (GO) - Biological Process for TBC1D17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006886 intracellular protein transport IBA --
GO:0006914 autophagy IEA --
GO:0015031 protein transport IEA --
GO:0031338 regulation of vesicle fusion IBA --
genes like me logo Genes that share ontologies with TBC1D17: view

No data available for SIGNOR curated interactions for TBC1D17 Gene

Drugs & Compounds for TBC1D17 Gene

No Compound Related Data Available

Transcripts for TBC1D17 Gene

Unigene Clusters for TBC1D17 Gene

TBC1 domain family, member 17:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D17 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c · 2d · 2e ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11 ^
SP1:
SP2: - - - - - - - - - - - - - - -
SP3: - - - -
SP4: - -
SP5:
SP6: - - - - - - - - - - - - - - -
SP7:
SP8: - - - - -
SP9: -
SP10: - - - - - - - - - - - - - - - - -
SP11: - - -
SP12: - - -
SP13: -

ExUns: 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10: - - - - -
SP11:
SP12:
SP13:

Relevant External Links for TBC1D17 Gene

GeneLoc Exon Structure for
TBC1D17
ECgene alternative splicing isoforms for
TBC1D17

Expression for TBC1D17 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TBC1D17 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TBC1D17 Gene

This gene is overexpressed in Lymph node (7.4), Frontal cortex (7.4), Uterus (6.9), and Bone (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TBC1D17 Gene



Protein tissue co-expression partners for TBC1D17 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TBC1D17 Gene:

TBC1D17

SOURCE GeneReport for Unigene cluster for TBC1D17 Gene:

Hs.631587

Evidence on tissue expression from TISSUES for TBC1D17 Gene

  • Nervous system(4.9)
  • Skin(4.4)
  • Liver(4.3)
  • Muscle(2.3)
genes like me logo Genes that share expression patterns with TBC1D17: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TBC1D17 Gene

Orthologs for TBC1D17 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TBC1D17 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TBC1D17 33 34
  • 99.07 (n)
dog
(Canis familiaris)
Mammalia TBC1D17 33 34
  • 89.15 (n)
cow
(Bos Taurus)
Mammalia TBC1D17 33 34
  • 88.47 (n)
mouse
(Mus musculus)
Mammalia Tbc1d17 33 16 34
  • 84.94 (n)
rat
(Rattus norvegicus)
Mammalia Tbc1d17 33
  • 84.91 (n)
oppossum
(Monodelphis domestica)
Mammalia TBC1D17 34
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TBC1D17 34
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TBC1D17 34
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tbc1d17 33
  • 62.25 (n)
zebrafish
(Danio rerio)
Actinopterygii tbc1d17 33 34
  • 60.03 (n)
wufc56c02 33
fruit fly
(Drosophila melanogaster)
Insecta CG11490 34
  • 29 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tbc-15 34
  • 46 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GYP7 34
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4773 34
  • 40 (a)
OneToMany
Species where no ortholog for TBC1D17 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TBC1D17 Gene

ENSEMBL:
Gene Tree for TBC1D17 (if available)
TreeFam:
Gene Tree for TBC1D17 (if available)

Paralogs for TBC1D17 Gene

Paralogs for TBC1D17 Gene

(3) SIMAP similar genes for TBC1D17 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with TBC1D17: view

Variants for TBC1D17 Gene

Sequence variations from dbSNP and Humsavar for TBC1D17 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1000040277 -- 49,885,437(+) G/A 3_prime_UTR_variant, intron_variant
rs1000233165 -- 49,880,677(+) C/T intron_variant
rs1000415858 -- 49,875,615(+) C/A/T upstream_transcript_variant
rs1000555472 -- 49,888,326(+) C/T genic_downstream_transcript_variant, intron_variant
rs1000734337 -- 49,883,414(+) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for TBC1D17 Gene

Variant ID Type Subtype PubMed ID
dgv53n68 CNV loss 17160897
dgv54n68 CNV loss 17160897
esv3644628 CNV gain 21293372
esv3644630 CNV gain 21293372
nsv1140251 OTHER inversion 24896259
nsv2519 CNV deletion 18451855
nsv524068 CNV loss 19592680
nsv526372 CNV loss 19592680
nsv953600 CNV deletion 24416366
nsv9739 CNV gain+loss 18304495

Variation tolerance for TBC1D17 Gene

Residual Variation Intolerance Score: 23.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.19; 39.56% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TBC1D17 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TBC1D17

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBC1D17 Gene

Disorders for TBC1D17 Gene

Additional Disease Information for TBC1D17

No disorders were found for TBC1D17 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TBC1D17 Gene

Publications for TBC1D17 Gene

  1. Optineurin mediates a negative regulation of Rab8 by the GTPase-activating protein TBC1D17. (PMID: 22854040) Vaibhava V … Swarup G (Journal of cell science 2012) 2 3 4 58
  2. Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity. (PMID: 19077034) Ishibashi K … Fukuda M (Genes to cells : devoted to molecular & cellular mechanisms 2009) 3 4 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for TBC1D17 Gene

Sources for TBC1D17 Gene

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