Aliases for TBC1D30 Gene
Aliases for TBC1D30 Gene
External Ids for TBC1D30 Gene
- HGNC: 29164
- Entrez Gene: 23329
- Ensembl: ENSG00000111490
- OMIM: 615077
- UniProtKB: Q9Y2I9
Previous GeneCards Identifiers for TBC1D30 Gene
- GC12P063460
- GC12P065174
- GC12P062225
Summaries for TBC1D30 Gene
GeneCards Summary for TBC1D30 Gene
TBC1D30 (TBC1 Domain Family Member 30) is a Protein Coding gene. GO annotations related to this gene include GTPase activator activity and Rab GTPase binding. An important paralog of this gene is TBC1D9B.
UniProtKB/Swiss-Prot for TBC1D30 Gene
-
GTPase-activating protein (GAP) with broad specificity. Acts as a GAP for RAB3A. Also exhibits significant GAP activity toward RAB22A, RAB27A, and RAB35 in vitro.
No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBC1D30 Gene
Genomics for TBC1D30 Gene
Regulatory Elements for TBC1D30 Gene
Enhancers for TBC1D30 Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH12G064778 | 1.4 | FANTOM5 ENCODE | 0.7 | -0.5 | -450 | 4.7 | SIN3A ZNF2 GLIS2 GATA2 ZNF263 ZNF202 SP3 SMARCB1 ZNF579 CBX8 | TBK1 GNS PABPC1P4 LEMD3 RASSF3 TBC1D30 GC12P064764 |
| GH12G064796 | 0.9 | ENCODE | 0.4 | +15.4 | 15352 | 0.9 | PKNOX1 ATF1 FOXA2 CBX3 ARID4B SIN3A BMI1 RAD21 RARA RFX5 | TBC1D30 GC12M064868 |
| GH12G064797 | 0.8 | ENCODE | 0.4 | +16.2 | 16183 | 0.1 | FOXA2 CEBPG RARA FOSL2 FOS NR2F6 CREM THAP11 SOX5 GATAD2A | RNU6-166P TBC1D30 GC12M064868 |
| GH12G064800 | 0.7 | FANTOM5 | 0.4 | +19.6 | 19643 | 0.4 | SCRT1 EED SCRT2 IKZF1 JUNB RELB RELA | TBK1 RNU6-166P RASSF3 LEMD3 GNS TBC1D30 GC12M064868 |
| GH12G064824 | 0.9 | Ensembl | 0.3 | +43.9 | 43905 | 1.9 | PKNOX1 SIN3A ZNF76 ZBTB7B GLIS2 EGR1 HSF1 ZNF143 ZNF548 EGR2 | LEMD3 TBK1 ENSG00000250280 RNU6-166P GC12M064868 TBC1D30 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around TBC1D30 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the TBC1D30 gene promoter:
Regulatory Element Products
Genomic Location for TBC1D30 Gene
- Chromosome:
- 12
- Start:
- 64,781,193 bp from pter
- End:
- 64,881,032 bp from pter
- Size:
- 99,840 bases
- Orientation:
- Plus strand
Genomic View for TBC1D30 Gene
Genes around TBC1D30 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12q14.3 by Ensembl
- 12q14.3 by Entrez Gene
- 12q14.3 by HGNC
TBC1D30 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for TBC1D30 Gene
Proteins for TBC1D30 Gene
-
Protein details for TBC1D30 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9Y2I9-TBC30_HUMAN
- Recommended name:
- TBC1 domain family member 30
- Protein Accession:
- Q9Y2I9
- B3KP01
- B9A6M9
- E7EMW4
- F5GYJ9
Protein attributes for TBC1D30 Gene
- Size:
- 924 amino acids
- Molecular mass:
- 102743 Da
- Quaternary structure:
- No Data Available
- SequenceCaution:
-
- Sequence=BAA76828.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for TBC1D30 Gene
Post-translational modifications for TBC1D30 Gene
Other Protein References for TBC1D30 Gene
Antibody Products
- Novus Biologicals Antibodies for TBC1D30
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- Search GeneTex for Antibodies for TBC1D30
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for TBC1D30
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- Novus Biologicals proteins for TBC1D30
- Search GeneTex for Proteins for TBC1D30
Assay Products
No data available for DME Specific Peptides for TBC1D30 Gene
Domains & Families for TBC1D30 Gene
Protein Domains for TBC1D30 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for TBC1D30 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for Gene Families and UniProtKB/Swiss-Prot for TBC1D30 Gene
Function for TBC1D30 Gene
Molecular function for TBC1D30 Gene
- UniProtKB/Swiss-Prot Function:
- GTPase-activating protein (GAP) with broad specificity. Acts as a GAP for RAB3A. Also exhibits significant GAP activity toward RAB22A, RAB27A, and RAB35 in vitro.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005096 | GTPase activator activity | IDA | 17646400 |
| GO:0017137 | Rab GTPase binding | IPI | 17646400 |
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for TBC1D30
-
-
ViGene Biosciences lentiviral particle packaged cDNA for TBC1D30 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for TBC1D30 gene
- Search ViGene Biosciences for TBC1D30
CRISPR Products
-
OriGene CRISPR knockouts for TBC1D30
-
Santa Cruz Biotechnology (SCBT) CRISPR for TBC1D30
- GenScript: Design CRISPR guide RNA sequences for TBC1D30
miRNA for TBC1D30 Gene
- miRTarBase miRNAs that target TBC1D30
miRNA Products
- Search ViGene Biosciences for TBC1D30
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for TBC1D30
- Browse OriGene Inhibitory RNA Products For TBC1D30
-
ViGene Biosciences ready-to-package AAV shRNAs for TBC1D30 gene
Clone Products
-
OriGene ORF clones in human for TBC1D30
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- VectorBuilder custom plasmid, inducible vectors for TBC1D30
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for TBC1D30
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for TBC1D30
-
ViGene Biosciences adenoviral particle packaged cDNA for TBC1D30 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for TBC1D30 gene
-
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Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Phenotypes , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TBC1D30 Gene
Localization for TBC1D30 Gene
Subcellular locations from UniProtKB/Swiss-Prot for TBC1D30 Gene
- Cell membrane; Peripheral membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| cytoskeleton | 5 |
| cytosol | 5 |
| nucleus | 3 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005829 | cytosol | IDA | -- |
| GO:0005886 | plasma membrane | IDA | -- |
| GO:0005929 | cilium | IDA | 17646400 |
| GO:0012505 | endomembrane system | IBA | -- |
| GO:0016020 | membrane | IEA | -- |
Pathways & Interactions for TBC1D30 Gene
No Data Available
Interacting Proteins for TBC1D30 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006886 | intracellular protein transport | IBA | -- |
| GO:0031338 | regulation of vesicle fusion | IBA | -- |
| GO:0043547 | positive regulation of GTPase activity | IDA | 17646400 |
| GO:0090630 | activation of GTPase activity | IBA | -- |
| GO:1902018 | negative regulation of cilium assembly | IMP | 17646400 |
No data available for Pathways by source and SIGNOR curated interactions for TBC1D30 Gene
Transcripts for TBC1D30 Gene
mRNA/cDNA for TBC1D30 Gene
- (10) REFSEQ mRNAs :
- (5) Additional mRNA sequences :
- (62) Selected AceView cDNA sequences:
- (6) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for TBC1D30 Gene
CRISPR Products
-
OriGene CRISPR knockouts for TBC1D30
-
Santa Cruz Biotechnology (SCBT) CRISPR for TBC1D30
- GenScript: Design CRISPR guide RNA sequences for TBC1D30
miRNA Products
- Search ViGene Biosciences for TBC1D30
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for TBC1D30
- Browse OriGene Inhibitory RNA Products For TBC1D30
-
ViGene Biosciences ready-to-package AAV shRNAs for TBC1D30 gene
Clone Products
-
OriGene ORF clones in human for TBC1D30
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- VectorBuilder custom plasmid, inducible vectors for TBC1D30
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for TBC1D30
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
Expression for TBC1D30 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Adipose (Muscoskeletal System)
mRNA differential expression in normal tissues according to GTEx for TBC1D30 Gene
This gene is overexpressed in Pancreas (x4.3).
This gene is overexpressed in Adipocyte (41.4) and Pancreas (27.6).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TBC1D30 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of TBC1D30 Gene:
TBC1D30SOURCE GeneReport for Unigene cluster for TBC1D30 Gene:
Hs.192492Evidence on tissue expression from TISSUES for TBC1D30 Gene
- Nervous system(4.7)
Primer Products
No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TBC1D30 Gene
Orthologs for TBC1D30 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | LOC467055 34 |
|
||
| TBC1D30 35 |
|
OneToOne | |||
| dog (Canis familiaris) |
Mammalia | TBC1D30 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | TBC1D30 34 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | TBC1D30 35 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Tbc1d30 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Tbc1d30 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | TBC1D30 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | TBC1D30 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | TBC1D30 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | tbc1d30 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | tbc1d30 34 35 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG42795 35 |
|
OneToOne | |
| worm (Caenorhabditis elegans) |
Secernentea | tbc-19 35 |
|
ManyToMany | |
| tbc-9 35 |
|
ManyToMany | |||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | MDR1 35 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
OneToOne |
- Species where no ortholog for TBC1D30 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)
- 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)
Paralogs for TBC1D30 Gene
(1) SIMAP similar genes for TBC1D30 Gene using alignment to 5 proteins:
Variants for TBC1D30 Gene
| SNP ID | Clin | Chr 12 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs786205619 | Likely pathogenic | 64,759,194(-) | GCTAC(-/T)GCTGG | upstream-variant-2KB, reference, frameshift-variant | |
| rs145477737 | Uncertain significance | 64,759,444(+) | GGACA(-/G)GGGGG | upstream-variant-2KB, utr-variant-5-prime | |
| rs200441930 | Uncertain significance | 64,759,273(+) | GAGCC(A/C/G)CATAG | upstream-variant-2KB, reference, missense | |
| rs540537083 | Uncertain significance | 64,759,204(+) | CAGCG(C/T)TGGGC | upstream-variant-2KB, reference, missense | |
| rs559286032 | Uncertain significance | 64,759,300(+) | GACCC(-/CGGGA)CGGGA | upstream-variant-2KB, utr-variant-5-prime |
Gene Damage Index Score:
2.67;
45.97% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for TBC1D30 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBC1D30 Gene
Disorders for TBC1D30 Gene
Relevant External Links for TBC1D30
No disorders were found for TBC1D30 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TBC1D30 Gene
Publications for TBC1D30 Gene
- Common genetic variation and performance on standardized cognitive tests. (PMID: 20125193) Cirulli E.T. … Goldstein D.B. (Eur. J. Hum. Genet. 2010) 3 46 64
- 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 64
- Functional dissection of Rab GTPases involved in primary cilium formation. (PMID: 17646400) Yoshimura S. … Barr F.A. (J. Cell Biol. 2007) 2 3 64
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
- GAPs galore! A survey of putative Ras superfamily GTPase activating proteins in man and Drosophila. (PMID: 12618308) Bernards A. (Biochim. Biophys. Acta 2003) 2 3 64
Products for TBC1D30 Gene
- Browse R&D Systems for Antibodies
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- Novus Biologicals Antibodies for TBC1D30
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- Horizon Cell Lines for TBC1D30
- Cyagen custom Knockout/knockin (KOKI) mouse models for TBC1D30
- VectorBuilder custom plasmid, inducible vectors for TBC1D30
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for TBC1D30
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for TBC1D30 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer