TBC1D17 Gene (Protein Coding)

TBC1 Domain Family Member 17

GC19P049877
GIFtS:
35
See more...

Aliases for TBC1D17 Gene

Aliases for TBC1D17 Gene

  • TBC1 Domain Family Member 17 2 3 4 5
  • TBC1 Domain Family, Member 17 2
  • FLJ12168 2
  • TBC1D17 5

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. Diseases associated with TBC1D17 include Glaucoma, Normal Tension and Glaucoma, Primary Open Angle. Among its related pathways are Vesicle-mediated transport and Mitophagy - animal. Gene Ontology (GO) annotations related to this gene include GTPase activator activity. An important paralog of this gene is TBC1D15.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for TBC1D17 Gene

Genomics for TBC1D17 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for TBC1D17 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TBC1D17 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TBC1D17

Top Transcription factor binding sites by QIAGEN in the TBC1D17 gene promoter:
  • p53
  • Sp1
  • SREBP-1c

Genomic Locations for TBC1D17 Gene

Latest Assembly
chr19:49,877,425-49,888,750
(GRCh38/hg38)
Size:
11,326 bases
Orientation:
Plus strand

Previous Assembly
chr19:50,380,959-50,392,007
(GRCh37/hg19 by Entrez Gene)
Size:
11,049 bases
Orientation:
Plus strand

chr19:50,380,682-50,392,005
(GRCh37/hg19 by Ensembl)
Size:
11,324 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 Structure • Gene Density

RefSeq DNA sequence for TBC1D17 Gene

Proteins for TBC1D17 Gene

Products:

  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • 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

Protein Expression for TBC1D17 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for TBC1D17 Gene

  • Ubiquitination at Lys23
  • Modification sites at PhosphoSitePlus

Other Protein References for TBC1D17 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TBC1D17 Gene

Domains & Families for TBC1D17 Gene

Gene Families for TBC1D17 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for TBC1D17 Gene

InterPro:
Blocks:
  • RabGAP/TBC domain
ProtoNet:

Suggested Antigen Peptide Sequences for TBC1D17 Gene

GenScript: Design optimal peptide antigens:
  • TBC1 domain family, member 17 (B9A6L8_HUMAN)
  • TBC1 domain family member 17 (TBC17_HUMAN)

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 Rab's 'switch 2' glutamine and insert in Rab's active site.
Domain:
  • 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.
genes like me logo Genes that share domains with TBC1D17: view

Function for TBC1D17 Gene

Products:

  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

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 21873635
GO:0005515 protein binding IPI 16189514
GO:0031267 small 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 Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TBC1D17

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 4
nucleus 2
lysosome 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1

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: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

PathCards logo

SuperPathways 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:0006886 intracellular protein transport IBA 21873635
GO:0006914 autophagy IEA --
GO:0015031 protein transport IEA --
GO:0042147 retrograde transport, endosome to Golgi IMP 17562788
GO:0090630 activation of GTPase activity IBA 21873635
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

Products:

  1. Drug products for research
No Compound Related Data Available

Transcripts for TBC1D17 Gene

Products:

  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for TBC1D17 Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TBC1D17

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

Expression for TBC1D17 Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

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

mRNA expression in normal human tissues for TBC1D17 Gene
mRNA expression by GTEx for TBC1D17 GenemRNA expression by BioGPS 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, MaxQB, and MOPED for TBC1D17 Gene



Protein tissue co-expression partners for TBC1D17 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.5)
  • Liver(4.3)
  • Muscle(2.7)
genes like me logo Genes that share expression patterns with TBC1D17: view

Primer products for research

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 30 31
  • 99.07 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia TBC1D17 30 31
  • 89.15 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia TBC1D17 30 31
  • 88.47 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Tbc1d17 30 17 31
  • 84.94 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Tbc1d17 30
  • 84.91 (n)
Oppossum
(Monodelphis domestica)
 Mammalia TBC1D17 31
  • 66 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia TBC1D17 31
  • 62 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia TBC1D17 31
  • 64 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia tbc1d17 30
  • 62.25 (n)
Zebrafish
(Danio rerio)
 Actinopterygii tbc1d17 30 31
  • 60.03 (n)
 OneToOne
wufc56c02 30
Fruit Fly
(Drosophila melanogaster)
 Insecta CG11490 31
  • 29 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea tbc-15 31
  • 46 (a)
 OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes GYP7 31
  • 23 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.4773 31
  • 40 (a)
 OneToMany
Species where no ortholog for TBC1D17 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for TBC1D17: view image

Paralogs for TBC1D17 Gene

Paralogs for TBC1D17 Gene

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

  • TBC17_HUMAN
  • B9A6L8_HUMAN
  • M0QXA2_HUMAN
  • M0QYC9_HUMAN
  • M0R2L2_HUMAN
genes like me logo Genes that share paralogs with TBC1D17: view

Variants for TBC1D17 Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TBC1D17 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs3745486 - p.Leu99Pro
rs8109661 - p.Asp84Gly

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TBC1D17 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for TBC1D17 Gene

MalaCards: The human disease database

(3) MalaCards diseases for TBC1D17 Gene - From: COP

Disorder Aliases PubMed IDs
glaucoma, normal tension
  • glaucoma, normal tension, susceptibility to
glaucoma, primary open angle
  • poag
parkinson disease, late-onset
  • pd
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TBC1D17

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with TBC1D17: view

No data available for 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
  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
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  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
  5. A High-Density Human Mitochondrial Proximity Interaction Network. (PMID: 32877691) Antonicka H … Shoubridge EA (Cell metabolism 2020) 3

ExternalLinks

View latest publications for TBC1D17 gene in Mastermind

Products for TBC1D17 Gene

Sources for TBC1D17 Gene