Aliases for ASPSCR1 Gene
Aliases for ASPSCR1 Gene
- ASPSCR1, UBX Domain Containing Tether For SLC2A4 2 3 5
- Alveolar Soft Part Sarcoma Chromosomal Region Candidate Gene 1 Protein 3 4
- Alveolar Soft Part Sarcoma Chromosome Region, Candidate 1 2 3
- Renal Papillary Cell Carcinoma Protein 17 3 4
- Tether Containing UBX Domain For GLUT4 2 3
- Alveolar Soft Part Sarcoma Locus 3 4
- UBX Domain-Containing Protein 9 3 4
- UBX Domain Protein 9 2 3
- RCC17 3 4
External Ids for ASPSCR1 Gene
- HGNC: 13825
- Entrez Gene: 79058
- Ensembl: ENSG00000169696
- OMIM: 606236
- UniProtKB: Q9BZE9
Previous GeneCards Identifiers for ASPSCR1 Gene
- GC17M079495
- GC17M9J0113
- GC17P080471
- GC17P080614
- GC17P077529
- GC17P079935
- GC17P075336
Summaries for ASPSCR1 Gene
-
The protein encoded by this gene contains a UBX domain and interacts with glucose transporter type 4 (GLUT4). This protein is a tether, which sequesters the GLUT4 in intracellular vesicles in muscle and fat cells in the absence of insulin, and redistributes the GLUT4 to the plasma membrane within minutes of insulin stimulation. Translocation t(X;17)(p11;q25) of this gene with transcription factor TFE3 gene results in a ASPSCR1-TFE3 fusion protein in alveolar soft part sarcoma and in renal cell carcinomas. Multiple alternatively spliced transcript variants have been found. [provided by RefSeq, Oct 2011]
GeneCards Summary for ASPSCR1 Gene
ASPSCR1 (ASPSCR1, UBX Domain Containing Tether For SLC2A4) is a Protein Coding gene. Diseases associated with ASPSCR1 include Alveolar Soft-Part Sarcoma and Renal Cell Carcinoma, Papillary. Among its related pathways are Vesicle-mediated transport and Transcriptional misregulation in cancer. An important paralog of this gene is UBXN6.
UniProtKB/Swiss-Prot for ASPSCR1 Gene
-
Tethering protein that sequesters GLUT4-containing vesicles in the cytoplasm in the absence of insulin. Modulates the amount of GLUT4 that is available at the cell surface (By similarity). Enhances VCP methylation catalyzed by VCPKMT.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASPSCR1 Gene
Genomics for ASPSCR1 Gene
Regulatory Elements for ASPSCR1 Gene
- Transcription factor binding sites by QIAGEN in the ASPSCR1 gene promoter:
Regulatory Element Products
Genomic Location for ASPSCR1 Gene
- Chromosome:
- 17
- Start:
- 81,976,807 bp from pter
- End:
- 82,017,563 bp from pter
- Size:
- 40,757 bases
- Orientation:
- Plus strand
Genomic View for ASPSCR1 Gene
- Cytogenetic band:
-
- 17q25.3 by Ensembl
- 17q25.3 by Entrez Gene
- 17q25.3 by HGNC
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for ASPSCR1 Gene
Proteins for ASPSCR1 Gene
-
Protein details for ASPSCR1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9BZE9-ASPC1_HUMAN
- Recommended name:
- Tether containing UBX domain for GLUT4
- Protein Accession:
- Q9BZE9
- A8K3K9
- Q7Z6N7
- Q8WV59
- Q96LS5
- Q96M40
Protein attributes for ASPSCR1 Gene
- Size:
- 553 amino acids
- Molecular mass:
- 60183 Da
- Quaternary structure:
-
- Interacts with GLUT4 (By similarity). Interacts with VCPKMT. Interacts with VCP.
Protein Expression for ASPSCR1 Gene
Post-translational modifications for ASPSCR1 Gene
Other Protein References for ASPSCR1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for ASPSCR1
- Cell Signaling Technology (CST) Antibodies for ASPSCR1 (ASPSCR1)
-
Custom Antibody ServicesOriGene Antibodies for ASPSCR1
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- antibodies-online Antibodies for ASPSCR1: See all 78
- GeneTex ASPSCR1 antibody for ASPSCR1
Protein Products
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OriGene Purified Proteins for ASPSCR1
- Search Origene for MassSpec and Protein Over-expression Lysates for ASPSCR1
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- ProSpec Recombinant Proteins for ASPSCR1
- antibodies-online Proteins for ASPSCR1: See all 9
- Search antibodies-online for peptides
- Search GeneTex for Proteins for ASPSCR1
Assay Products
No data available for DME Specific Peptides for ASPSCR1 Gene
Domains & Families for ASPSCR1 Gene
Gene Families for ASPSCR1 Gene
Protein Domains for ASPSCR1 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for ASPSCR1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for ASPSCR1 Gene
Function for ASPSCR1 Gene
Molecular function for ASPSCR1 Gene
- UniProtKB/Swiss-Prot Function:
- Tethering protein that sequesters GLUT4-containing vesicles in the cytoplasm in the absence of insulin. Modulates the amount of GLUT4 that is available at the cell surface (By similarity). Enhances VCP methylation catalyzed by VCPKMT.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003674 | molecular_function | ND | -- |
| GO:0005515 | protein binding | IPI | 18775313 |
Phenotypes for ASPSCR1 Gene
- GenomeRNAi human phenotypes for ASPSCR1:
Animal Model Products
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-
-
ViGene Biosciences lentiviral particle packaged cDNA for ASPSCR1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for ASPSCR1 gene
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CRISPR Products
-
OriGene CRISPR knockouts for ASPSCR1
-
Santa Cruz Biotechnology (SCBT) CRISPR for ASPSCR1
- GenScript: Design CRISPR guide RNA sequences for ASPSCR1
miRNA for ASPSCR1 Gene
- miRTarBase miRNAs that target ASPSCR1
miRNA Products
- Search ViGene Biosciences for ASPSCR1
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for ASPSCR1
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Clone Products
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-
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 ASPSCR1
-
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-
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-
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Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ASPSCR1 Gene
Localization for ASPSCR1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ASPSCR1 Gene
- Endomembrane system; Peripheral membrane protein. Endoplasmic reticulum-Golgi intermediate compartment membrane; Peripheral membrane protein. Cytoplasm. Nucleus.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005575 | cellular_component | ND | -- |
| GO:0005634 | nucleus | IEA | -- |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005829 | cytosol | IEA | -- |
Pathways & Interactions for ASPSCR1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Vesicle-mediated transport | ||
| 2 | Transcriptional misregulation in cancer | ||
| 3 | Glucose / Energy Metabolism | ||
| 4 | Translocation of GLUT4 to the plasma membrane | ||
Pathways by source for ASPSCR1 Gene
1 Cell Signaling Technology pathway for ASPSCR1 Gene
3 Reactome pathways for ASPSCR1 Gene
1 KEGG pathway for ASPSCR1 Gene
Interacting Proteins for ASPSCR1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006886 | intracellular protein transport | IEA | -- |
| GO:0008150 | biological_process | ND | -- |
| GO:0042593 | glucose homeostasis | IEA | -- |
| GO:0046324 | regulation of glucose import | IEA | -- |
Transcripts for ASPSCR1 Gene
mRNA/cDNA for ASPSCR1 Gene
- (14) REFSEQ mRNAs :
- (8) Additional mRNA sequences :
- (198) Selected AceView cDNA sequences:
- (21) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for ASPSCR1 Gene
- Alveolar soft part sarcoma chromosome region, candidate 1:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for ASPSCR1
-
Santa Cruz Biotechnology (SCBT) CRISPR for ASPSCR1
- GenScript: Design CRISPR guide RNA sequences for ASPSCR1
miRNA Products
- Search ViGene Biosciences for ASPSCR1
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for ASPSCR1
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-
ViGene Biosciences ready-to-package AAV shRNAs for ASPSCR1 gene
Clone Products
-
OriGene ORF clones in human for ASPSCR1
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- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for ASPSCR1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ASPSCR1
-
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
| ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | · | 10c | · | 10d | · | 10e | · | 10f | ^ | 11a | · | 11b | · | 11c | · | 11d | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: |
| ExUns: | 16a | · | 16b | ^ | 17 | ^ | 18a | · | 18b | ^ | 19 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||
| SP2: | - | - | |||||||||
| SP3: | |||||||||||
| SP4: | - | ||||||||||
| SP5: | |||||||||||
| SP6: | |||||||||||
| SP7: | |||||||||||
| SP8: | |||||||||||
| SP9: | |||||||||||
| SP10: | |||||||||||
| SP11: |
Expression for ASPSCR1 Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ASPSCR1 Gene
NURSA nuclear receptor signaling pathways regulating expression of ASPSCR1 Gene:
ASPSCR1SOURCE GeneReport for Unigene cluster for ASPSCR1 Gene:
Hs.298351mRNA Expression by UniProt/SwissProt for ASPSCR1 Gene:
Q9BZE9-ASPC1_HUMANEvidence on tissue expression from TISSUES for ASPSCR1 Gene
- Nervous system(4.7)
- Heart(4.3)
- Liver(4.3)
- Skin(4.3)
- Eye(4.2)
- Muscle(2.8)
Phenotype-based relationships between genes and organs from Gene ORGANizer for ASPSCR1 Gene
- endoderm
- mesoderm
- respiratory
- urinary
- lung
- kidney
Primer Products
-
OriGene qPCR primer pairs and template standards for ASPSCR1
-
OriGene qPCR primer pairs for ASPSCR1
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for ASPSCR1 Gene
Orthologs for ASPSCR1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ASPSCR1 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Aspscr1 34 16 35 |
|
||
| cow (Bos Taurus) |
Mammalia | ASPSCR1 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | ASPSCR1 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Aspscr1 34 |
|
||
| chicken (Gallus gallus) |
Aves | ASPSCR1 34 |
|
||
| gga-mir-6599 35 |
|
OneToOne | |||
| lizard (Anolis carolinensis) |
Reptilia | ASPSCR1 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | aspscr1 34 |
|
||
| Str.1031 34 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.16681 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | aspscr1 34 35 35 |
|
||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.14193 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG33722 35 |
|
OneToOne | |
| worm (Caenorhabditis elegans) |
Secernentea | B0024.10 35 |
|
OneToOne | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
OneToMany | |
| CSA.1140 35 |
|
OneToMany |
- Species where no ortholog for ASPSCR1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- 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)
- oppossum (Monodelphis domestica)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- platypus (Ornithorhynchus anatinus)
- 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 ASPSCR1 Gene
(6) SIMAP similar genes for ASPSCR1 Gene using alignment to 9 proteins:
Variants for ASPSCR1 Gene
| SNP ID | Clin | Chr 17 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000000218 | -- | 82,010,996(+) | GGTGC(A/G)GGTGC | intron-variant | |
| rs1000017705 | -- | 82,001,539(+) | GTTTA(C/G)AAGCC | intron-variant | |
| rs1000036289 | -- | 81,987,264(+) | GCGCC(G/T)GGCAG | intron-variant | |
| rs1000051612 | -- | 81,980,190(+) | ATTGG(C/T)CAGGA | intron-variant | |
| rs1000056168 | -- | 81,982,820(+) | TCCTT(C/T)CCTTT | intron-variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv5800n54 | CNV | loss | 21841781 |
| esv1006218 | CNV | insertion | 20482838 |
| esv21913 | CNV | gain+loss | 19812545 |
| esv3641410 | CNV | loss | 21293372 |
| esv3641412 | CNV | loss | 21293372 |
| esv3641413 | CNV | gain | 21293372 |
| nsv428351 | CNV | gain | 18775914 |
| nsv457975 | CNV | loss | 19166990 |
| nsv470620 | CNV | loss | 18288195 |
| nsv576183 | CNV | loss | 21841781 |
| nsv833569 | CNV | loss | 17160897 |
| nsv833571 | CNV | loss | 17160897 |
| nsv952392 | CNV | deletion | 24416366 |
Relevant External Links for ASPSCR1 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- ASPSCR1
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASPSCR1 Gene
Disorders for ASPSCR1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| alveolar soft-part sarcoma |
|
|
| renal cell carcinoma, papillary |
|
|
| sarcoma |
|
|
| childhood kidney cell carcinoma |
|
|
| muscle cancer |
|
|
UniProtKB/Swiss-Prot
ASPC1_HUMAN- Note=A chromosomal aberration involving ASPSCR1 has been found in two patients with of papillary renal cell carcinoma. Translocation t(X;17)(p11.2;q25). {ECO:0000269 PubMed:11358836}.
- Note=A chromosomal aberration involving ASPSCR1 is found in patients with alveolar soft part sarcoma. Translocation t(X;17)(p11;q25) with TFE3 forms a ASPSCR1-TFE3 fusion protein. {ECO:0000269 PubMed:11244503}.
Relevant External Links for ASPSCR1
No data available for Genatlas for ASPSCR1 Gene
Publications for ASPSCR1 Gene
- The der(17)t(X;17)(p11;q25) of human alveolar soft part sarcoma fuses the TFE3 transcription factor gene to ASPL, a novel gene at 17q25. (PMID: 11244503) Ladanyi M. … Bridge J. (Oncogene 2001) 2 3 4 22 64
- Fusion of a novel gene, RCC17, to the TFE3 gene in t(X;17)(p11.2;q25.3)-bearing papillary renal cell carcinomas. (PMID: 11358836) Heimann P. … Vassart G. (Cancer Res. 2001) 3 4 22 64
- A newly uncovered group of distantly related lysine methyltransferases preferentially interact with molecular chaperones to regulate their activity. (PMID: 23349634) Cloutier P. … Coulombe B. (PLoS Genet. 2013) 3 4 64
- The ubiquitin regulatory X (UBX) domain-containing protein TUG regulates the p97 ATPase and resides at the endoplasmic reticulum-golgi intermediate compartment. (PMID: 22207755) Orme C.M. … Bogan J.S. (J. Biol. Chem. 2012) 3 4 64
- Identification of type 2 diabetes-associated combination of SNPs using support vector machine. (PMID: 20416077) Ban H.J. … Park K.J. (BMC Genet. 2010) 3 46 64
Products for ASPSCR1 Gene
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- Novus Biologicals Antibodies for ASPSCR1
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- ProSpec Recombinant Proteins for ASPSCR1
- antibodies-online Antibodies for ASPSCR1: See all 78
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- antibodies-online Proteins for ASPSCR1: See all 9
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- GeneTex ASPSCR1 antibody for ASPSCR1
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- ViGene Biosciences adenoviral particle packaged cDNA for ASPSCR1 gene
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- Horizon Cell Lines for ASPSCR1
- Cyagen custom Knockout/knockin (KOKI) mouse models for ASPSCR1
- VectorBuilder custom plasmid, inducible vectors for ASPSCR1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ASPSCR1
- 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 ASPSCR1 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
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