Aliases for ZNRF1 Gene
Aliases for ZNRF1 Gene
External Ids for ZNRF1 Gene
- HGNC: 18452
- Entrez Gene: 84937
- Ensembl: ENSG00000186187
- OMIM: 612060
- UniProtKB: Q8ND25
Previous GeneCards Identifiers for ZNRF1 Gene
- GC16P074812
- GC00U917013
- GC16P073590
- GC16P060784
Summaries for ZNRF1 Gene
-
This gene encodes an E3 ubiquitin-protein ligase that plays a role in neural-cell differentiation. Overexpression of this gene causes neurite-like elongation. The encoded protein contains both a zinc finger and a RING finger motif and is localized in the endosome/lysosome compartment, indicating that it may be involved in ubiquitin-mediated protein modification, and in synaptic vessicle membranes in neurons. [provided by RefSeq, Feb 2012]
GeneCards Summary for ZNRF1 Gene
ZNRF1 (Zinc And Ring Finger 1) is a Protein Coding gene. Diseases associated with ZNRF1 include B-Cell Adult Acute Lymphocytic Leukemia. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. GO annotations related to this gene include ligase activity and ubiquitin protein ligase activity. An important paralog of this gene is ZNRF2.
UniProtKB/Swiss-Prot for ZNRF1 Gene
-
E3 ubiquitin-protein ligase that mediates the ubiquitination of AKT1 and GLUL, thereby playing a role in neuron cells differentiation. Plays a role in the establishment and maintenance of neuronal transmission and plasticity. Regulates Schwann cells differentiation by mediating ubiquitination of GLUL. Promotes neurodegeneration by mediating Lys-48-linked polyubiquitination and subsequent degradation of AKT1 in axons: degradation of AKT1 prevents AKT1-mediated phosphorylation of GSK3B, leading to GSK3B activation and phosphorylation of DPYSL2/CRMP2 followed by destabilization of microtubule assembly in axons (Probable).
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ZNRF1 Gene
Genomics for ZNRF1 Gene
Regulatory Elements for ZNRF1 Gene
Enhancers for ZNRF1 Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around ZNRF1 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the ZNRF1 gene promoter:
Regulatory Element Products
Genomic Location for ZNRF1 Gene
- Chromosome:
- 16
- Start:
- 74,999,017 bp from pter
- End:
- 75,110,994 bp from pter
- Size:
- 111,978 bases
- Orientation:
- Plus strand
Genomic View for ZNRF1 Gene
Genes around ZNRF1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 16q23.1 by Ensembl
- 16q23.1 by Entrez Gene
- 16q23.1 by HGNC
ZNRF1 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 ZNRF1 Gene
Proteins for ZNRF1 Gene
-
Protein details for ZNRF1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8ND25-ZNRF1_HUMAN
- Recommended name:
- E3 ubiquitin-protein ligase ZNRF1
- Protein Accession:
- Q8ND25
- D3DUJ9
- Q9H083
Protein attributes for ZNRF1 Gene
- Size:
- 227 amino acids
- Molecular mass:
- 23783 Da
- Quaternary structure:
-
- Interacts with AKT1, GLUL and TUBB2A.
Protein Expression for ZNRF1 Gene
Selected DME Specific Peptides for ZNRF1 Gene
- Q8ND25:
-
- CSKSVAS
- HFIMCLSKPRLSYNDDVL
- QGDTIARLPCLCIYHK
Post-translational modifications for ZNRF1 Gene
Other Protein References for ZNRF1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for ZNRF1
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- Invitrogen Antibodies for ZNRF1
- antibodies-online Antibodies for ZNRF1: See all 54
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Protein Products
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- antibodies-online Proteins for ZNRF1: See all 12
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-
ProSci Proteins for ZNRF1
Assay Products
Domains & Families for ZNRF1 Gene
Gene Families for ZNRF1 Gene
Protein Domains for ZNRF1 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for ZNRF1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q8ND25UniProtKB/Swiss-Prot:
ZNRF1_HUMAN :- The RING-type zinc finger domain is required for E3 ligase activity.
- Domain:
-
- The RING-type zinc finger domain is required for E3 ligase activity.
Function for ZNRF1 Gene
Molecular function for ZNRF1 Gene
- UniProtKB/Swiss-Prot CatalyticActivity:
- S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.
- UniProtKB/Swiss-Prot Function:
- E3 ubiquitin-protein ligase that mediates the ubiquitination of AKT1 and GLUL, thereby playing a role in neuron cells differentiation. Plays a role in the establishment and maintenance of neuronal transmission and plasticity. Regulates Schwann cells differentiation by mediating ubiquitination of GLUL. Promotes neurodegeneration by mediating Lys-48-linked polyubiquitination and subsequent degradation of AKT1 in axons: degradation of AKT1 prevents AKT1-mediated phosphorylation of GSK3B, leading to GSK3B activation and phosphorylation of DPYSL2/CRMP2 followed by destabilization of microtubule assembly in axons (Probable).
Enzyme Numbers (IUBMB) for ZNRF1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004842 | ubiquitin-protein transferase activity | TAS | -- |
| GO:0005515 | protein binding | IPI | 19549727 |
| GO:0008270 | zinc ion binding | IEA | -- |
| GO:0016740 | transferase activity | IEA | -- |
| GO:0046872 | metal ion binding | IEA | -- |
Phenotypes for ZNRF1 Gene
Animal Model Products
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-
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ViGene Biosciences lentiviral particle packaged cDNA for ZNRF1 gene
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CRISPR Products
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-
Santa Cruz Biotechnology (SCBT) CRISPR for ZNRF1
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miRNA for ZNRF1 Gene
- miRTarBase miRNAs that target ZNRF1
-
- hsa-mir-15b-5p (MIRT046491)
- hsa-mir-30a-5p (MIRT144534)
- hsa-mir-30c-5p (MIRT144536)
- hsa-mir-30d-5p (MIRT144537)
- hsa-mir-30b-5p (MIRT144538)
- hsa-mir-30e-5p (MIRT144541)
- hsa-mir-4720-3p (MIRT495135)
- hsa-mir-761 (MIRT495136)
- hsa-mir-3619-5p (MIRT495137)
- hsa-mir-214-3p (MIRT495138)
- hsa-mir-6746-3p (MIRT495139)
- hsa-mir-6838-5p (MIRT495140)
- hsa-mir-4690-5p (MIRT495141)
- hsa-mir-497-5p (MIRT495142)
- hsa-mir-424-5p (MIRT495143)
- hsa-mir-195-5p (MIRT495144)
- hsa-mir-16-5p (MIRT495145)
- hsa-mir-15a-5p (MIRT495146)
- hsa-mir-6720-5p (MIRT723203)
- hsa-mir-6512-3p (MIRT723204)
- hsa-mir-3194-5p (MIRT723205)
- hsa-mir-6849-3p (MIRT723206)
- hsa-mir-4691-3p (MIRT723207)
- hsa-mir-6858-3p (MIRT723208)
miRNA Products
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Inhibitory RNA 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 ZNRF1
-
ViGene Biosciences adenoviral particle packaged cDNA for ZNRF1 gene
-
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-
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Flow Cytometry Products
No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ZNRF1 Gene
Localization for ZNRF1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ZNRF1 Gene
- Endosome. Lysosome. Membrane; Peripheral membrane protein. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane; Peripheral membrane protein. Note=Associated with synaptic vesicle membranes in neurons.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| endosome | 4 |
| lysosome | 3 |
| extracellular | 2 |
| mitochondrion | 2 |
| peroxisome | 1 |
| nucleus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005764 | lysosome | IEA | -- |
| GO:0005768 | endosome | IDA | -- |
| GO:0005829 | cytosol | TAS | -- |
| GO:0016020 | membrane | IDA | 22797923 |
| GO:0030054 | cell junction | IEA | -- |
Pathways & Interactions for ZNRF1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Class I MHC mediated antigen processing and presentation | ||
| 2 | Innate Immune System |
.61
|
|
Pathways by source for ZNRF1 Gene
4 Reactome pathways for ZNRF1 Gene
UniProtKB/Swiss-Prot Q8ND25-ZNRF1_HUMAN
- Pathway: Protein modification; protein ubiquitination.
Interacting Proteins for ZNRF1 Gene
Selected Interacting proteins:
ENSP00000335091
Q8ND25-ZNRF1_HUMAN
for ZNRF1 Gene via
STRING
UniProtKB
IID
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000209 | protein polyubiquitination | TAS | -- |
| GO:0016567 | protein ubiquitination | IEA | -- |
| GO:0043161 | proteasome-mediated ubiquitin-dependent protein catabolic process | IBA,ISS | -- |
| GO:0070936 | protein K48-linked ubiquitination | ISS | -- |
No data available for SIGNOR curated interactions for ZNRF1 Gene
Drugs & Compounds for ZNRF1 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| pyrophosphate |
|
14000-31-8 |
|
Transcripts for ZNRF1 Gene
mRNA/cDNA for ZNRF1 Gene
- (4) REFSEQ mRNAs :
- (5) Additional mRNA sequences :
- (234) Selected AceView cDNA sequences:
- (11) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for ZNRF1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for ZNRF1
-
Santa Cruz Biotechnology (SCBT) CRISPR for ZNRF1
- GenScript: Design CRISPR guide RNA sequences for ZNRF1
miRNA Products
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Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for ZNRF1
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ViGene Biosciences ready-to-package AAV shRNAs for ZNRF1 gene
Clone Products
-
OriGene ORF clones in human for ZNRF1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for ZNRF1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ZNRF1
-
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: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||||
| SP2: | - | - | - | ||||||||||||||||||
| SP3: | - | - | - | - | |||||||||||||||||
| SP4: | - | ||||||||||||||||||||
| SP5: |
Expression for ZNRF1 Gene
This gene is overexpressed in Adipocyte (60.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ZNRF1 Gene
NURSA nuclear receptor signaling pathways regulating expression of ZNRF1 Gene:
ZNRF1SOURCE GeneReport for Unigene cluster for ZNRF1 Gene:
Hs.427284mRNA Expression by UniProt/SwissProt for ZNRF1 Gene:
Q8ND25-ZNRF1_HUMAN
Tissue specificity:
Expressed primarily in the nervous system, with expression higher in developing brain relative to adult. Expressed at low levels in testis and thymus.
Evidence on tissue expression from TISSUES for ZNRF1 Gene
- Lung(4.6)
- Nervous system(3.2)
Primer Products
-
OriGene qPCR primer pairs and template standards for ZNRF1
-
OriGene qPCR primer pairs for ZNRF1
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ZNRF1 Gene
Orthologs for ZNRF1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ZNRF1 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | ZNRF1 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | ZNRF1 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Znrf1 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Znrf1 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | ZNRF1 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | ZNRF1 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | ZNRF1 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | znrf1 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | znrf1 34 35 |
|
||
| zgc77896 34 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | CG14435 35 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | Y71F9AL.10 35 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.3182 35 |
|
OneToMany |
- Species where no ortholog for ZNRF1 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)
- oppossum (Monodelphis domestica)
- 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 ZNRF1 Gene
(1) SIMAP similar genes for ZNRF1 Gene using alignment to 5 proteins:
Pseudogenes.org Pseudogenes for ZNRF1 Gene
Variants for ZNRF1 Gene
| SNP ID | Clin | Chr 16 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000018126 | -- | 75,031,848(+) | TCGAG(-/TCAA)TCAAT | intron-variant | |
| rs1000032160 | -- | 75,066,361(+) | GGAAG(A/G)CATGA | intron-variant | |
| rs1000045619 | -- | 75,100,535(+) | ACCAC(A/T)TGTGC | intron-variant | |
| rs1000086764 | -- | 75,095,028(+) | TTCCC(C/G)TACAA | intron-variant | |
| rs1000091016 | -- | 75,059,825(+) | AGGCC(A/G)GCTTT | intron-variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv1368n106 | CNV | deletion | 24896259 |
| esv1789347 | CNV | deletion | 17803354 |
| esv2714703 | CNV | deletion | 23290073 |
| esv2714704 | CNV | deletion | 23290073 |
| esv3003 | CNV | loss | 18987735 |
| esv3639081 | CNV | gain | 21293372 |
| esv3639082 | CNV | gain | 21293372 |
| nsv103814 | CNV | deletion | 16902084 |
| nsv1878 | CNV | insertion | 18451855 |
| nsv833280 | CNV | loss | 17160897 |
Gene Damage Index Score:
2.23;
40.14% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for ZNRF1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZNRF1 Gene
Disorders for ZNRF1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| b-cell adult acute lymphocytic leukemia |
|
|
Search ZNRF1 in MalaCards
View complete list of genes associated with diseases
Relevant External Links for ZNRF1
No data available for UniProtKB/Swiss-Prot and Genatlas for ZNRF1 Gene
Publications for ZNRF1 Gene
- Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects. (PMID: 19844255) Dastani Z. … Genest J. (Eur. J. Hum. Genet. 2010) 3 46 64
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
- ZNRF proteins constitute a family of presynaptic E3 ubiquitin ligases. (PMID: 14561866) Araki T. … Milbrandt J. (J. Neurosci. 2003) 3 4 64
- Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S. … Poustka A. (Genome Res. 2001) 3 4 64
- Identification of genes induced in peripheral nerve after injury. Expression profiling and novel gene discovery. (PMID: 11427537) Araki T. … Milbrandt J. (J. Biol. Chem. 2001) 3 4 64
Products for ZNRF1 Gene
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- antibodies-online Antibodies for ZNRF1: See all 54
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- antibodies-online Proteins for ZNRF1: See all 12
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- ViGene Biosciences adenoviral particle packaged cDNA for ZNRF1 gene
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- Search ViGene Biosciences for ZNRF1
- Horizon Cell Lines for ZNRF1
- Cyagen custom Knockout/knockin (KOKI) mouse models for ZNRF1
- VectorBuilder custom plasmid, inducible vectors for ZNRF1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ZNRF1
- 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 ZNRF1 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
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