TBC1D17 Gene
protein-coding GIFtS: 45
GCID: GC19P050380
|
|
TBC1 domain family, member 17
| |
Aliases
for TBC1D17 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| TBC1 Domain Family, Member 171 2 | | FLJ121681 | | TBC1 Domain Family Member 172 |
Export aliases for TBC1D17 gene to outside databasesPrevious GC identifers: GC19P055072 GC19P046757 |
Summaries
for TBC1D17 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
UniProtKB/Swiss-Prot: TBC17_HUMAN, Q9HA65Function: May act as a GTPase-activating protein for Rab family protein(s)
|
Genomic Views
for TBC1D17 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000019.9 NC_018930.1 NT_011109.16
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the TBC1D17 gene promoter:
p53 Sp1 SREBP-1c
Other transcription factors
Search SABiosciences Chromatin IP Primers for TBC1D17
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TBC1D17 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 19q13.33 Ensembl cytogenetic band: 19q13.33 HGNC cytogenetic band: 19q13.33TBC1D17 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 19 GeneLoc Exon Structure GeneLoc location for GC19P050380: view genomic region
(about GC identifiers)
Start:
|
50,380,682 bp from pter |
End:
|
50,392,007 bp from pter |
Size:
|
11,326 bases |
Orientation:
|
plus strand |
|
Proteins
for TBC1D17 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: TBC17_HUMAN, Q9HA65 (See
protein sequence)Recommended Name: TBC1 domain family member 17 Size: 648 amino acids; 72728 DaExplore the universe of human proteins at neXtProt for TBC1D17: NX_Q9HA65
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9HA65
TBC1D17 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001161694.1 NP_078958.2
ENSEMBL proteins: ENSP00000221543 ENSP00000446323
Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005622 | intracellular |
IEA | -- |
TBC1D17 for ontologies About GeneDecksing
TBC1D17 Antibody Products:
Assay Products for TBC1D17: |
Protein
Domains /
Families
for TBC1D17 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
TBC1D17 for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9HA65ProtoNet protein and cluster: Q9HA65 1 Blocks protein family: IPB000195 RabGAP/TBC domain
UniProtKB/Swiss-Prot: TBC17_HUMAN, Q9HA65Similarity: Contains 1 Rab-GAP TBC domain |
Function
for TBC1D17 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: TBC17_HUMAN, Q9HA65Function: May act as a GTPase-activating protein for Rab family protein(s)
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TBC1D17 (see all 5)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TBC1D17 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): TBC1D17 (NM_024682) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBC1D17 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005097 | Rab GTPase activator activity |
IEA | -- |
TBC1D17 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for TBC1D17:
|
Pathways & Interactions
for TBC1D17 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TBC1D17
STRING Interaction
Network Preview (showing 5 interactants - click image to see 9)
5/20 Interacting proteins for TBC1D17 (Q9HA652, 3 ENSP000002215434) via UniProtKB, MINT, STRING, and/or I2D (see all 20)About this table
|
Drugs & Compounds
for TBC1D17 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for TBC1D17
Search CenterWatch for drugs/clinical trials and news about TBC1D17 / TBC17
|
Transcripts
for TBC1D17 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for TBC1D17 gene (2 alternative transcripts): NM_001168222.1 NM_024682.2 Unigene Cluster for TBC1D17: TBC1 domain family, member 17 Hs.631587 [show with all ESTs]Unigene Representative Sequence: AY1290132 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000221543(uc010enn.2 uc002pqo.3 uc002pqp.3) ENST00000535102(uc010ybg.2 uc002pqr.3)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TBC1D17 (see all 5)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TBC1D17 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): TBC1D17 (NM_024682) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for TBC1D17 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TBC1D17 |
Additional cDNA sequence: AB449903.1 AK022230.1 AK090606.1 AK092924.1 AK300007.1 AK309412.1 AY129013.1 BC003516.1 24/28 DOTS entries (see all 28): DT.410596 DT.92353955 DT.100775177 DT.95332891 DT.100016076 DT.100878770 DT.100878776 DT.100701463 DT.86848830 DT.95136694 DT.95333212 DT.95333198 DT.121429374 DT.75161880 DT.121429289 DT.121429294 DT.121429325 DT.434746 DT.95333211 DT.97855753 DT.121429313 DT.121429409 DT.121429480 DT.91664413 24/269 AceView cDNA sequences (see all 269): BQ645612 CR606871 BM545258 BM997161 AI869317 CA420725 BG280753 CA443888 BU631891 BM680414 BE900296 CK904889 AK022230 BQ646177 AI669742 CD722617 BF436604 BM724281 AI685621 AL533805 BI198535 CR616225 AI304680 AI634959
GeneLoc Exon Structure
5/13 Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D17 (see all 13) About this scheme
| 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: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| ExUns: | 12 | ^ | 13 | ^ | 14 | ^ | 15a | · | 15b | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for TBC1D17
|
Expression
for TBC1D17 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| TBC1D17 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTGTCCGGCT
About this image
See TBC1D17 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TBC1D17
SOURCE GeneReport for Unigene cluster: Hs.631587
SABiosciences Custom PCR Arrays for TBC1D17
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TBC1D17
Browse OriGene validated miRNA SYBR primer pairs
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBC1D17 |
Orthologs
for TBC1D17 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for TBC1D17 gene from 7/21 species (see all 21) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
mouse
(Mus musculus) |
Mammalia |
Tbc1d171 , 5 |
TBC1 domain family, member 171, 5 |
84.94(n)1
89.88(a)1 |
|
7 (28.93 cM)5
2332041 NM_001042655.11 NP_001036120.11
448409015 |
lizard
(Anolis carolinensis) |
Reptilia |
TBC1D176 |
-- |
61(a) |
1 ↔ 1 |
GL343287.1(135273-155553) |
zebrafish
(Danio rerio) |
Actinopterygii |
wufc56c022 |
wufc56c02 |
73.14(n) |
|
325133 BQ261770.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
CG114906 |
-- |
26(a) |
1 → many |
2L(207179-210725) |
worm
(Caenorhabditis elegans) |
Secernentea |
tbc-156 |
TBC (Tre-2/Bub2/Cdc16) domain family member (tbc-1... |
46(a) |
1 → many |
II(13437528-13441336) |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
AT5G525806 |
RabGAP/TBC domain-containing protein |
22(a) |
1 → many |
5(21337861-21342985) |
rice
(Oryza sativa) |
Liliopsida |
-- |
TBC domain containing protein, expressed |
23(a) |
1 → many |
2(29367149-29375222) |
ENSEMBL Gene Tree for TBC1D17 (if available)
TreeFam Gene Tree for TBC1D17 (if available) |
Paralogs
for TBC1D17 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for TBC1D17 gene
- SGSM12 TBC1D212 SGSM22 TBC1D162 TBC1D152 TBC1D252
3 SIMAP similar genes for TBC1D17 using alignment to 6 protein entries: TBC17_HUMAN (see all proteins):DKFZp761D0223 TBC1D15 TBC1D16
TBC1D17 for paralogs About GeneDecksing
|
Genomic Variants
for TBC1D17 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 19 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for TBC1D17 (50380682 - 50392007 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for TBC1D17
2 CNVs: 5114 32261 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TBC1D17 |
|
Disorders
/ Diseases
for TBC1D17 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
| -- |
Publications
for TBC1D17 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for TBC1D17 gene, integrated from 9 sources (see all 16):
(articles sorted by number of sources associating them with TBC1D17) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
- Rab GTPase-activating proteins in autophagy: regulatio n of endocytic and autophagy pathways by direct binding to human ATG8 modifiers. (PubMed id 22354992)1 Popovic D....Dikic I. (2012)
- A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)
- Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
- A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
- Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
- Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (2010)
- Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity. (PubMed id 19077034)1 Ishibashi K.... Fukuda M. (2009)
|
External Searches for TBC1D17 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing TBC1D17 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing TBC1D17 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing TBC1D17 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for TBC1D17 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for TBC1D17 gene:
Search GeneIP for patents involving TBC1D17
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for TBC1D17 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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| |
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| |  |  |  |  | | | | |
 |
 |
 |
 | | | TBC1D17 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBC1D17 |
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| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TBC1D17 |
|
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