Aliases for JOSD1 Gene
Aliases for JOSD1 Gene
External Ids for JOSD1 Gene
- HGNC: 28953
- Entrez Gene: 9929
- Ensembl: ENSG00000100221
- OMIM: 615323
- UniProtKB: Q15040
Previous GeneCards Identifiers for JOSD1 Gene
- GC22M037407
- GC22M039081
- GC22M022047
Summaries for JOSD1 Gene
GeneCards Summary for JOSD1 Gene
JOSD1 (Josephin Domain Containing 1) is a Protein Coding gene. Among its related pathways are Metabolism of proteins and Josephin domain DUBs. Gene Ontology (GO) annotations related to this gene include omega peptidase activity. An important paralog of this gene is JOSD2.
UniProtKB/Swiss-Prot for JOSD1 Gene
-
Deubiquitinates monoubiquitinated probes (in vitro). When ubiquitinated, cleaves Lys-63-linked and Lys-48-linked poly-ubiquitin chains (in vitro), hence may act as a deubiquitinating enzyme. May increase macropinocytosis and suppress clathrin- and caveolae-mediated endocytosis. May enhance membrane dynamics and cell motility independently of its catalytic activity.
No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for JOSD1 Gene
Genomics for JOSD1 Gene
GeneHancer (GH) Regulatory Elements for JOSD1 Gene
Promoters and enhancers for JOSD1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around JOSD1 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for JOSD1 Gene
Genomic Locations for JOSD1 Gene
- chr22:38,685,543-38,701,556
- (GRCh38/hg38)
- Size:
- 16,014 bases
- Orientation:
- Minus strand
- chr22:39,081,548-39,097,561
- (GRCh37/hg19)
Genomic View for JOSD1 Gene
Genes around JOSD1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 22q13.1 by Ensembl
- 22q13.1 by Entrez Gene
- 22q13.1 by HGNC
JOSD1 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 JOSD1 Gene
Proteins for JOSD1 Gene
-
Protein details for JOSD1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q15040-JOS1_HUMAN
- Recommended name:
- Josephin-1
- Protein Accession:
- Q15040
- A8K712
Protein attributes for JOSD1 Gene
- Size:
- 202 amino acids
- Molecular mass:
- 23198 Da
- Quaternary structure:
-
- Interacts with beta-actin/ACTB.
- SequenceCaution:
-
- Sequence=BAA06682.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
Protein Expression for JOSD1 Gene
Post-translational modifications for JOSD1 Gene
- Monoubiquitinated (By similarity). Ubiquitination activates deubiquitination activity in vitro.
- Ubiquitination at posLast=7474 and isoforms=180
Other Protein References for JOSD1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for JOSD1
- Invitrogen Antibodies for JOSD1
- Search GeneTex for Antibodies for JOSD1
Protein Products
-
OriGene Purified Proteins for JOSD1
- Search Origene for MassSpec and Protein Over-expression Lysates for JOSD1
- Origene Custom Protein Services for JOSD1
- ProSpec Recombinant Proteins for JOSD1
- Search GeneTex for Proteins for JOSD1
Assay Products
No data available for DME Specific Peptides for JOSD1 Gene
Domains & Families for JOSD1 Gene
Gene Families for JOSD1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Enzymes
- Predicted intracellular proteins
Suggested Antigen Peptide Sequences for JOSD1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for JOSD1 Gene
Function for JOSD1 Gene
Molecular function for JOSD1 Gene
- UniProtKB/Swiss-Prot CatalyticActivity:
- Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C-terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal).
- UniProtKB/Swiss-Prot Function:
- Deubiquitinates monoubiquitinated probes (in vitro). When ubiquitinated, cleaves Lys-63-linked and Lys-48-linked poly-ubiquitin chains (in vitro), hence may act as a deubiquitinating enzyme. May increase macropinocytosis and suppress clathrin- and caveolae-mediated endocytosis. May enhance membrane dynamics and cell motility independently of its catalytic activity.
Enzyme Numbers (IUBMB) for JOSD1 Gene
Phenotypes From GWAS Catalog for JOSD1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004843 | thiol-dependent ubiquitin-specific protease activity | IBA | -- |
| GO:0005515 | protein binding | IPI | 21516116 |
| GO:0008233 | peptidase activity | IEA | -- |
| GO:0016787 | hydrolase activity | IEA | -- |
| GO:0036459 | thiol-dependent ubiquitinyl hydrolase activity | TAS | -- |
Phenotypes for JOSD1 Gene
Animal Model Products
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-
-
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-
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CRISPR Products
-
OriGene CRISPR knockouts for JOSD1
- genomics-online: gRNA clones - Search results for available JOSD1 gene related products
- Applied Biological Materials CRISPR for JOSD1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for JOSD1
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miRNA for JOSD1 Gene
- miRTarBase miRNAs that target JOSD1
-
- hsa-mir-26b-5p (MIRT029639)
- hsa-mir-186-5p (MIRT045025)
- hsa-mir-6864-3p (MIRT475029)
- hsa-mir-3672 (MIRT475030)
- hsa-mir-6771-5p (MIRT475031)
- hsa-mir-769-5p (MIRT475032)
- hsa-mir-4786-5p (MIRT475033)
- hsa-mir-6746-5p (MIRT475034)
- hsa-mir-6849-3p (MIRT475035)
- hsa-mir-3614-5p (MIRT475036)
- hsa-mir-6500-3p (MIRT475037)
- hsa-mir-4293 (MIRT475038)
- hsa-mir-4802-3p (MIRT475039)
- hsa-mir-4443 (MIRT475040)
- hsa-mir-3978 (MIRT475041)
- hsa-mir-7847-3p (MIRT475042)
- hsa-mir-650 (MIRT475043)
- hsa-mir-3612 (MIRT475044)
- hsa-mir-1324 (MIRT475045)
- hsa-mir-1827 (MIRT475046)
- hsa-mir-3688-3p (MIRT475047)
- hsa-mir-2392 (MIRT475048)
- hsa-mir-4524b-3p (MIRT475049)
- hsa-mir-4796-3p (MIRT475050)
- hsa-mir-103a-3p (MIRT475051)
- hsa-mir-107 (MIRT475052)
- hsa-mir-32-5p (MIRT727387)
- hsa-mir-92b-3p (MIRT727388)
- hsa-mir-92a-3p (MIRT727389)
- hsa-mir-30e-5p (MIRT727390)
- hsa-mir-30c-5p (MIRT727391)
- hsa-mir-30d-5p (MIRT727392)
- hsa-mir-30b-5p (MIRT727393)
- hsa-mir-30a-5p (MIRT727394)
miRNA Products
- Search ViGene Biosciences for JOSD1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for JOSD1
- Browse OriGene Inhibitory RNA Products For JOSD1
- genomics-online: shRNA clones - Search results for available JOSD1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for JOSD1 gene
Clone Products
- Sino Biological Human cDNA Clone for JOSD1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for JOSD1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for JOSD1
-
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
- Addgene plasmids for JOSD1
- genomics-online: cdna clones - Search results for available JOSD1 gene related products
- orf clones - Search results for available JOSD1 gene related products
- Applied Biological Materials Clones for JOSD1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for JOSD1
-
ViGene Biosciences adenoviral particle packaged cDNA for JOSD1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for JOSD1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for JOSD1 gene
No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for JOSD1 Gene
Localization for JOSD1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for JOSD1 Gene
- Cell membrane. Cytoplasm. Note=Ubiquitination increases localization the plasma membrane. In the cytosol, the unubiquitinated form may be associated with the cytoskeleton via ACTB-binding.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| plasma membrane | 3 |
| nucleus | 2 |
| extracellular | 1 |
| mitochondrion | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005829 | cytosol | TAS | -- |
| GO:0005886 | plasma membrane | IEA | -- |
| GO:0016020 | membrane | IEA,HDA | 19946888 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for JOSD1 Gene
Pathways & Interactions for JOSD1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metabolism of proteins | ||
| 2 | Deubiquitination |
.74
|
|
| 3 | Josephin domain DUBs | ||
Pathways by source for JOSD1 Gene
4 Reactome pathways for JOSD1 Gene
Interacting Proteins for JOSD1 Gene
Selected Interacting proteins:
Q15040-JOS1_HUMAN
ENSP00000216039
for JOSD1 Gene via
IID
UniProtKB
STRING
MINT
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006508 | proteolysis | IEA | -- |
| GO:0016579 | protein deubiquitination | TAS,IEA | -- |
No data available for SIGNOR curated interactions for JOSD1 Gene
Transcripts for JOSD1 Gene
mRNA/cDNA for JOSD1 Gene
- (5) REFSEQ mRNAs :
- (6) Additional mRNA sequences :
- (308) Selected AceView cDNA sequences:
- (10) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for JOSD1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for JOSD1
- genomics-online: gRNA clones - Search results for available JOSD1 gene related products
- Applied Biological Materials CRISPR for JOSD1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for JOSD1
- GenScript: Design CRISPR guide RNA sequences for JOSD1
miRNA Products
- Search ViGene Biosciences for JOSD1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for JOSD1
- Browse OriGene Inhibitory RNA Products For JOSD1
- genomics-online: shRNA clones - Search results for available JOSD1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for JOSD1 gene
Clone Products
- Sino Biological Human cDNA Clone for JOSD1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for JOSD1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for JOSD1
-
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
- Addgene plasmids for JOSD1
- genomics-online: cdna clones - Search results for available JOSD1 gene related products
- orf clones - Search results for available JOSD1 gene related products
- Applied Biological Materials Clones for JOSD1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||
| SP2: | |||||||||||||||||||
| SP3: | - | ||||||||||||||||||
| SP4: | - |
Expression for JOSD1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Bone (Muscoskeletal System)
This gene is overexpressed in Platelet (69.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for JOSD1 Gene
NURSA nuclear receptor signaling pathways regulating expression of JOSD1 Gene:
JOSD1SOURCE GeneReport for Unigene cluster for JOSD1 Gene:
Hs.3094Evidence on tissue expression from TISSUES for JOSD1 Gene
- Bone marrow(4.3)
- Liver(4.2)
- Skin(4.2)
- Nervous system(3.3)
Primer Products
-
OriGene qPCR primer pairs for JOSD1
-
OriGene qPCR primer pairs and template standards for JOSD1
- genomics-online: primer clones - Search results for available JOSD1 gene related products
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 JOSD1 Gene
Orthologs for JOSD1 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | JOSD1 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Josd1 34 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | JOSD1 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | JOSD1 33 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | JOSD1 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | JOSD1 34 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Josd1 33 |
|
||
| chicken (Gallus gallus) |
Aves | JOSD1 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | JOSD1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | josd1 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | josd1 33 34 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG3781 34 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | josd-1 34 |
|
OneToMany | |
| thale cress (Arabidopsis thaliana) |
eudicotyledons | JOSL 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os03g0265200 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.8567 34 |
|
OneToOne | |
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.2421 33 |
|
- Species where no ortholog for JOSD1 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)
- 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)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- 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)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Paralogs for JOSD1 Gene
(2) SIMAP similar genes for JOSD1 Gene using alignment to 6 proteins:
Pseudogenes.org Pseudogenes for JOSD1 Gene
Variants for JOSD1 Gene
| SNP ID | Clin | Chr 22 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000178459 | -- | 38,694,671(-) | G/C | intron_variant | |
| rs1000264274 | -- | 38,700,393(-) | C/T | 5_prime_UTR_variant | |
| rs1000511976 | -- | 38,699,494(-) | G/C | intron_variant | |
| rs1000865457 | -- | 38,687,643(-) | T/C | 3_prime_UTR_variant | |
| rs1001064913 | -- | 38,690,357(-) | G/A | intron_variant |
Residual Variation Intolerance Score:
32.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.80;
47.55% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for JOSD1 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- JOSD1
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for JOSD1 Gene
Disorders for JOSD1 Gene
Additional Disease Information for JOSD1
No disorders were found for JOSD1 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for JOSD1 Gene
Publications for JOSD1 Gene
- Prediction of the coding sequences of unidentified human genes. II. The coding sequences of 40 new genes (KIAA0041-KIAA0080) deduced by analysis of cDNA clones from human cell line KG-1. (PMID: 7584044) Nomura N … Tabata S (DNA research : an international journal for rapid publication of reports on genes and genomes 1994) 2 3 4 58
- JosD1, a membrane-targeted deubiquitinating enzyme, is activated by ubiquitination and regulates membrane dynamics, cell motility, and endocytosis. (PMID: 23625928) Seki T … Paulson HL (The Journal of biological chemistry 2013) 3 4 58
- Crystal structure of a Josephin-ubiquitin complex: evolutionary restraints on ataxin-3 deubiquitinating activity. (PMID: 21118805) Weeks SD … Loll PJ (The Journal of biological chemistry 2011) 3 4 58
- A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins JE … Dunham I (Genome biology 2004) 3 4 58
- 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 58
Products for JOSD1 Gene
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- Invitrogen Antibodies for JOSD1
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- VectorBuilder custom plasmid, inducible vectors for JOSD1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for JOSD1
- 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
- Addgene plasmids for JOSD1
- antibodies-online: Search results for 14 available JOSD1 Antibodies ranked by validation data
- Compare Top JOSD1 Antibodies
- antibodies-online: Search results for available JOSD1 related products ranked by validation data
- antibodies-online: Search results for 8 available JOSD1 Proteins ranked by validation data
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- Quality Products:
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- ViGene Biosciences adenoviral particle packaged cDNA for JOSD1 gene
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- Search ViGene Biosciences for JOSD1
- Horizon Cell Lines for JOSD1
- genomics-online: cdna clones - Search results for available JOSD1 gene related products
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- genomics-online: gRNA clones - Search results for available JOSD1 gene related products
- genomics-online: primer clones - Search results for available JOSD1 gene related products
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Sources for JOSD1 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) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
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