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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. GO annotations related to this gene include GTPase activator activity. 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

Promoters for TBC1D17 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TBC1D17 on UCSC Golden Path with GeneCards custom track

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

Genomic Location for TBC1D17 Gene

Chromosome:
19
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

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

Proteomics data for TBC1D17 Gene at MOPED

Post-translational modifications for TBC1D17 Gene

  • Ubiquitination at Lys 23
  • 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

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 :
  • 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.
  • 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.
genes like me logo Genes that share phenotypes with TBC1D17: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for TBC1D17 Gene COMPARTMENTS Subcellular localization image for TBC1D17 gene
Compartment Confidence
cytosol 5
vacuole 4
nucleus 2
endosome 1

No data available for Gene Ontology (GO) - Cellular Components for TBC1D17 Gene

Pathways & Interactions 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
genes like me logo Genes that share ontologies with TBC1D17: view

No data available for Pathways by source and 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:

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

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, MOPED, and MaxQB for TBC1D17 Gene



SOURCE GeneReport for Unigene cluster for TBC1D17 Gene Hs.631587

genes like me logo Genes that share expression patterns with TBC1D17: view

Protein tissue co-expression partners for TBC1D17 Gene

- Elite partner

Primer Products

In Situ Assay Products

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 36
  • 99 (a)
OneToOne
TBC1D17 35
  • 99.07 (n)
  • 99.38 (a)
cow
(Bos Taurus)
Mammalia TBC1D17 35
  • 88.47 (n)
  • 91.08 (a)
TBC1D17 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TBC1D17 36
  • 92 (a)
OneToOne
TBC1D17 35
  • 89.15 (n)
  • 93.74 (a)
mouse
(Mus musculus)
Mammalia Tbc1d17 16
Tbc1d17 35
  • 84.94 (n)
  • 89.88 (a)
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 36
  • 55 (a)
OneToOne
tbc1d17 35
  • 60.03 (n)
  • 57.33 (a)
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

(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 Sequence Context AA Info Type
rs3745486 - 49,880,379(+) ACAGC(C/T)CTGCC nc-transcript-variant, reference, missense
VAR_060276 -
rs746738 -- 49,883,083(+) TGAGT(C/T)CTCAG intron-variant
rs11668716 -- 49,888,757(+) TTGGC(A/T)TCTTG downstream-variant-500B
rs11882200 -- 49,882,862(+) CAGGT(A/C)CCTGA nc-transcript-variant, reference, synonymous-codon

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

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)

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

Relevant External Links for TBC1D17

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (J. Cell. Sci. 2012) 2 3 4 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. RSPO-LGR4 functions via IQGAP1 to potentiate Wnt signaling. (PMID: 24639526) Carmon K.S. … Liu Q. (Proc. Natl. Acad. Sci. U.S.A. 2014) 3
  4. Defining human ERAD networks through an integrative mapping strategy. (PMID: 22119785) Christianson J.C. … Kopito R.R. (Nat. Cell Biol. 2012) 3
  5. Rab GTPase-activating proteins in autophagy: regulation of endocytic and autophagy pathways by direct binding to human ATG8 modifiers. (PMID: 22354992) Popovic D. … Dikic I. (Mol. Cell. Biol. 2012) 3

Products for TBC1D17 Gene

Sources for TBC1D17 Gene

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