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Aliases for TBC1D17 Gene

Aliases for TBC1D17 Gene

  • TBC1 Domain Family, Member 17 2 3

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. An important paralog of this gene is SGSM2.

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.

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

Genomics for TBC1D17 Gene

Regulatory Elements for TBC1D17 Gene

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

Genomic Location for TBC1D17 Gene

Start:
49,877,425 bp from pter
End:
49,888,750 bp from pter
Size:
11,326 bases
Orientation:
Plus strand

Genomic View for TBC1D17 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for TBC1D17 Gene at MOPED

Post-translational modifications for TBC1D17 Gene

  • Ubiquitination at Lys23
  • Modification sites at PhosphoSitePlus

Other Protein References for TBC1D17 Gene

No data available for DME Specific Peptides for TBC1D17 Gene

Domains for TBC1D17 Gene

Protein Domains for TBC1D17 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for TBC1D17 Gene

Graphical View of Domain Structure for InterPro Entry

Q9HA65

UniProtKB/Swiss-Prot:

TBC17_HUMAN :
  • Q9HA65
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.
  • Contains 1 Rab-GAP TBC domain.
genes like me logo Genes that share domains with TBC1D17: view

No data available for Gene Families for TBC1D17 Gene

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 IEA --
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with TBC1D17: view

Phenotypes for TBC1D17 Gene

GenomeRNAi human phenotypes for TBC1D17:
genes like me logo Genes that share phenotypes with TBC1D17: view

miRNA for TBC1D17 Gene

miRTarBase miRNAs that target TBC1D17

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for TBC1D17 Gene COMPARTMENTS Subcellular localization image for TBC1D17 gene
Compartment Confidence
cytosol 2
nucleus 2
endosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for TBC1D17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005776 autophagic vacuole IEA --
GO:0005829 cytosol IDA 17562788
GO:0031410 cytoplasmic vesicle IEA --
genes like me logo Genes that share ontologies with TBC1D17: view

Pathways for TBC1D17 Gene

SuperPathways for TBC1D17 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TBC1D17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006914 autophagy IEA --
GO:0015031 protein transport IEA --
GO:0042147 retrograde transport, endosome to Golgi IMP 17562788
GO:0043547 positive regulation of GTPase activity IEA --
GO:1902017 NOT regulation of cilium assembly IMP 17646400
genes like me logo Genes that share ontologies with TBC1D17: view

No data available for Pathways by source for TBC1D17 Gene

Transcripts for TBC1D17 Gene

Unigene Clusters for TBC1D17 Gene

TBC1 domain family, member 17:
Representative Sequences:

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 for TBC1D17 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TBC1D17 Gene

SOURCE GeneReport for Unigene cluster for TBC1D17 Gene Hs.631587

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

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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 35
  • 99.07 (n)
  • 99.38 (a)
TBC1D17 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TBC1D17 35
  • 88.47 (n)
  • 91.08 (a)
TBC1D17 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TBC1D17 35
  • 89.15 (n)
  • 93.74 (a)
TBC1D17 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tbc1d17 35
  • 84.94 (n)
  • 89.88 (a)
Tbc1d17 16
Tbc1d17 36
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TBC1D17 36
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TBC1D17 36
  • 62 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tbc1d17 35
  • 84.91 (n)
  • 90.98 (a)
lizard
(Anolis carolinensis)
Reptilia TBC1D17 36
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tbc1d17 35
  • 62.25 (n)
  • 64.59 (a)
zebrafish
(Danio rerio)
Actinopterygii tbc1d17 35
  • 60.03 (n)
  • 57.33 (a)
tbc1d17 36
  • 55 (a)
OneToOne
wufc56c02 35
fruit fly
(Drosophila melanogaster)
Insecta CG11490 36
  • 29 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tbc-15 36
  • 46 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GYP7 36
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4773 36
  • 40 (a)
OneToMany
Species with no ortholog for TBC1D17:
  • 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

Selected 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 Sequence Context AA Info Type MAF
rs746738 -- 49,883,083(+) TGAGT(C/T)CTCAG intron-variant
rs2305915 -- 49,884,493(-) AGGAT(C/G)GGGGA synonymous-codon, reference
rs3745486 - 49,880,379(+) ACAGC(C/T)CTGCC missense, reference
rs3745487 -- 49,880,434(+) AGCAC(A/G)TGTGG intron-variant
rs7248498 -- 49,881,625(+) CAAAA(A/G)GGAGT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv9739 CNV Gain+Loss 18304495
nsv912269 CNV Loss 21882294
dgv53n68 CNV Loss 17160897
dgv3974n71 CNV Loss 21882294
dgv54n68 CNV Loss 17160897
nsv526372 CNV Loss 19592680
nsv524068 CNV Loss 19592680
nsv2519 CNV Loss 18451855

Relevant External Links for TBC1D17 Gene

HapMap Linkage Disequilibrium report
TBC1D17

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

Disorders for TBC1D17 Gene

No disorders were found for TBC1D17 Gene.

No data available for UniProtKB/Swiss-Prot 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. (J. Cell. Sci. 2012) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity. (PMID: 19077034) Ishibashi K. … Fukuda M. (Genes Cells 2009) 3 4
  5. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PMID: 21139048) Danielsen J.M. … Nielsen M.L. (Mol. Cell Proteomics 2011) 3

Products for TBC1D17 Gene

Sources for TBC1D17 Gene

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