Aliases for RP1L1 Gene
Aliases for RP1L1 Gene
External Ids for RP1L1 Gene
- HGNC: 15946
- Entrez Gene: 94137
- Ensembl: ENSG00000183638
- OMIM: 608581
- UniProtKB: Q8IWN7
Previous GeneCards Identifiers for RP1L1 Gene
- GC00U991063
- GC08U900030
- GC08M010335
- GC08M010501
- GC08M009394
Summaries for RP1L1 Gene
-
This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two N-terminal doublecortin domains, which bind microtubules and regulate microtubule polymerization, and two C-terminal large repetitive regions, both of which contain a high percentage of glutamine and glutamic acid residues. This protein is a retinal-specific protein. Its exact length varies among individuals due to the presence of a 16aa repeat in the first C-terminal repetitive region. The 16aa repeat is encoded by the highly polymorphic 48-bp repeat, and 1-6 copies of the 16aa repeat have been identified in normal individuals. The current reference sequence shown here has a single copy of the 16aa repeat. This protein and the RP1 protein, another retinal-specific protein, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors. Mutations in this gene cause occult macular dystrophy (OMD). [provided by RefSeq, Sep 2010]
GeneCards Summary for RP1L1 Gene
RP1L1 (RP1 Like 1) is a Protein Coding gene. Diseases associated with RP1L1 include Occult Macular Dystrophy and Retinitis Pigmentosa 1. An important paralog of this gene is RP1.
UniProtKB/Swiss-Prot for RP1L1 Gene
-
Required for the differentiation of photoreceptor cells. Plays a role in the organization of outer segment of rod and cone photoreceptors (By similarity).
Additional gene information for RP1L1 Gene
- Monarch Initiative
- Search for RP1L1 at DataMed
- Search for RP1L1 at HumanCyc
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RP1L1 Gene
Genomics for RP1L1 Gene
GeneHancer (GH) Regulatory Elements for RP1L1 Gene
Promoters and enhancers for RP1L1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around RP1L1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the RP1L1 gene promoter:
Regulatory Element Products
Genomic Locations for RP1L1 Gene
Genomic Locations for RP1L1 Gene
- chr8:10,606,349-10,712,187
- (GRCh38/hg38)
- Size:
- 105,839 bases
- Orientation:
- Minus strand
- chr8:10,463,859-10,569,697
- (GRCh37/hg19)
Genomic View for RP1L1 Gene
Genes around RP1L1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 8p23.1 by Ensembl
- 8p23.1 by Entrez Gene
- 8p23.1 by HGNC
RP1L1 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 RP1L1 Gene
Proteins for RP1L1 Gene
-
Protein details for RP1L1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8IWN7-RP1L1_HUMAN
- Recommended name:
- Retinitis pigmentosa 1-like 1 protein
- Protein Accession:
- Q8IWN7
- Q86SQ1
- Q8IWN8
- Q8IWN9
- Q8IWP0
- Q8IWP1
- Q8IWP2
Protein attributes for RP1L1 Gene
- Size:
- 2480 amino acids
- Molecular mass:
- 261207 Da
- Quaternary structure:
-
- Interacts with RP1; has a synergistic effect with RP1 in photoreceptor differentiation.
Protein Expression for RP1L1 Gene
Post-translational modifications for RP1L1 Gene
No Post-translational modifications
Other Protein References for RP1L1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for RP1L1
- Invitrogen Antibodies for RP1L1
- Search GeneTex for Antibodies for RP1L1
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for RP1L1
- Origene Custom Protein Services for RP1L1
- Novus Biologicals proteins for RP1L1
- Search GeneTex for Proteins for RP1L1
Assay Products
No data available for DME Specific Peptides for RP1L1 Gene
Domains & Families for RP1L1 Gene
Gene Families for RP1L1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for RP1L1 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for RP1L1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q8IWN7UniProtKB/Swiss-Prot:
RP1L1_HUMAN :- The C-terminal part contains a large repetitive region which contains an unusually high percentage of glutamine, glycine and above all glutamic acid residues.
- Domain:
-
- The C-terminal part contains a large repetitive region which contains an unusually high percentage of glutamine, glycine and above all glutamic acid residues.
Function for RP1L1 Gene
Molecular function for RP1L1 Gene
- UniProtKB/Swiss-Prot Function:
- Required for the differentiation of photoreceptor cells. Plays a role in the organization of outer segment of rod and cone photoreceptors (By similarity).
Phenotypes From GWAS Catalog for RP1L1 Gene
Phenotypes for RP1L1 Gene
- MGI mutant phenotypes for RP1L1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for RP1L1:
Animal Models for RP1L1 Gene
- MGI Knock Outs for RP1L1:
-
- Rp1l1 tm1Jnz
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
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-
-
ViGene Biosciences lentiviral particle packaged cDNA for RP1L1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for RP1L1 gene
- Search ViGene Biosciences for RP1L1
CRISPR Products
-
OriGene CRISPR knockouts for RP1L1
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- Applied Biological Materials CRISPR for RP1L1
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Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for RP1L1
- GenScript: Design CRISPR guide RNA sequences for RP1L1
miRNA for RP1L1 Gene
- miRTarBase miRNAs that target RP1L1
miRNA Products
- Search ViGene Biosciences for RP1L1
Inhibitory RNA Products
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Clone Products
- VectorBuilder custom plasmid, inducible vectors for RP1L1
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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
- genomics-online: cdna clones - Search results for available RP1L1 gene related products
- orf clones - Search results for available RP1L1 gene related products
- Applied Biological Materials Clones for RP1L1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for RP1L1
-
ViGene Biosciences adenoviral particle packaged cDNA for RP1L1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for RP1L1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for RP1L1 gene
No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for RP1L1 Gene
Localization for RP1L1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for RP1L1 Gene
- Cytoplasm, cytoskeleton, cilium axoneme. Cell projection, cilium, photoreceptor outer segment. Note=Localized to the axoneme of outer segments and connecting cilia in rod photoreceptors. {ECO:0000250}.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| cytoskeleton | 4 |
| mitochondrion | 2 |
| nucleus | 2 |
| cytosol | 2 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001750 | photoreceptor outer segment | ISS | -- |
| GO:0005874 | microtubule | IEA | -- |
| GO:0005930 | axoneme | ISS | -- |
| GO:0032391 | photoreceptor connecting cilium | ISS | -- |
| GO:0070062 | extracellular exosome | HDA | 23376485 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for RP1L1 Gene
Pathways & Interactions for RP1L1 Gene
No Data Available
Interacting Proteins for RP1L1 Gene
Selected Interacting proteins:
Q8IWN7-RP1L1_HUMAN
ENSP00000371923
for RP1L1 Gene via
IID
STRING
MINT
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007601 | visual perception | IEA | -- |
| GO:0035082 | axoneme assembly | IBA | -- |
| GO:0035556 | intracellular signal transduction | IEA | -- |
| GO:0042461 | photoreceptor cell development | ISS | -- |
| GO:0045494 | photoreceptor cell maintenance | ISS | -- |
No data available for Pathways by source and SIGNOR curated interactions for RP1L1 Gene
Transcripts for RP1L1 Gene
mRNA/cDNA for RP1L1 Gene
- (1) REFSEQ mRNAs :
- (7) Additional mRNA sequences :
- (29) Selected AceView cDNA sequences:
- (2) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for RP1L1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for RP1L1
- genomics-online: gRNA clones - Search results for available RP1L1 gene related products
- Applied Biological Materials CRISPR for RP1L1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for RP1L1
- GenScript: Design CRISPR guide RNA sequences for RP1L1
miRNA Products
- Search ViGene Biosciences for RP1L1
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RP1L1
- Browse OriGene Inhibitory RNA Products For RP1L1
- genomics-online: shRNA clones - Search results for available RP1L1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for RP1L1 gene
Clone Products
- VectorBuilder custom plasmid, inducible vectors for RP1L1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for RP1L1
-
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
- genomics-online: cdna clones - Search results for available RP1L1 gene related products
- orf clones - Search results for available RP1L1 gene related products
- Applied Biological Materials Clones for RP1L1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for RP1L1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Eye (Sensory Organs)
- Mature Rod Cells Outer Nuclear Layer
-
Neurons
- Mature Rod Cells Outer Nuclear Layer
mRNA differential expression in normal tissues according to GTEx for RP1L1 Gene
This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x5.5) and Skin - Not Sun Exposed (Suprapubic) (x4.2).
This gene is overexpressed in CD4 Tcells (21.4), Retina (16.3), Fetal Brain (14.2), and Heart (6.9).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for RP1L1 Gene
NURSA nuclear receptor signaling pathways regulating expression of RP1L1 Gene:
RP1L1SOURCE GeneReport for Unigene cluster for RP1L1 Gene:
Hs.33538mRNA Expression by UniProt/SwissProt for RP1L1 Gene:
Q8IWN7-RP1L1_HUMAN
Tissue specificity:
Retinal-specific; expressed in photoreceptor.
Evidence on tissue expression from TISSUES for RP1L1 Gene
- Eye(4.5)
- Intestine(4)
Phenotype-based relationships between genes and organs from Gene ORGANizer for RP1L1 Gene
Germ Layers:
- ectoderm
Systems:
- nervous
Organs:
Head and neck:
- brain
- cranial nerve
- eye
- head
General:
- peripheral nervous system
Primer Products
-
OriGene qPCR primer pairs for RP1L1
- genomics-online: primer clones - Search results for available RP1L1 gene related products
Orthologs for RP1L1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | RP1L1 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | RP1L1 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | RP1L1 33 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | LOC683404 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Rp1l1 33 16 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | RP1L1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | RP1L1 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | RP1L1 34 |
|
OneToOne | |
| zebrafish (Danio rerio) |
Actinopterygii | rp1l1 34 |
|
OneToMany | |
| RP1L1 (1 of 2) 34 |
|
OneToMany | |||
| worm (Caenorhabditis elegans) |
Secernentea | F27C1.13 34 |
|
OneToMany |
- Species where no ortholog for RP1L1 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)
- fruit fly (Drosophila melanogaster)
- 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)
- platypus (Ornithorhynchus anatinus)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- 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)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
Paralogs for RP1L1 Gene
Variants for RP1L1 Gene
Polymorphic Variants from UniProtKB/Swiss-Prot for RP1L1 Gene
- RP1L1_HUMAN-Q8IWN7
- The exact length of RP1L1 is variable between individuals due to the presence of several length polymorphisms. The sequence shown here is that of allele RP1L1-6 and includes 8 repeats (from aa 1292-1422) with a length of 16 amino acids. The number of repeats is highly polymorphic and varies among different alleles, ranging from 3 to 8.
| SNP ID | Clin | Chr 08 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1024256263 | uncertain-significance, Occult macular dystrophy | 10,616,522(-) | G/A | coding_sequence_variant, synonymous_variant | |
| rs111646478 | benign, Occult macular dystrophy | 10,608,452(-) | C/A | coding_sequence_variant, missense_variant | |
| rs112534810 | benign, Occult macular dystrophy | 10,608,455(-) | T/C | coding_sequence_variant, synonymous_variant | |
| rs112609335 | likely-benign, Occult macular dystrophy | 10,622,758(-) | A/C/G | coding_sequence_variant, synonymous_variant | |
| rs115126172 | likely-benign, Occult macular dystrophy | 10,622,655(-) | C/A/T | coding_sequence_variant, missense_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv7010n100 | CNV | loss | 25217958 |
| esv1658461 | CNV | insertion | 17803354 |
| esv2669109 | CNV | deletion | 23128226 |
| esv997256 | CNV | insertion | 20482838 |
| nsv1025557 | CNV | gain | 25217958 |
| nsv1030934 | CNV | gain | 25217958 |
| nsv1129295 | CNV | insertion | 24896259 |
| nsv523113 | CNV | loss | 19592680 |
| nsv527445 | CNV | loss | 19592680 |
| nsv610267 | CNV | gain | 21841781 |
| nsv610268 | CNV | loss | 21841781 |
| nsv824532 | CNV | gain | 20364138 |
Residual Variation Intolerance Score:
99.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
29.90;
99.90% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for RP1L1 Gene
Disorders for RP1L1 Gene
(3) MalaCards diseases for RP1L1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| occult macular dystrophy |
|
|
| retinitis pigmentosa 1 |
|
|
| retinitis pigmentosa |
|
|
Search RP1L1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
RP1L1_HUMAN- Occult macular dystrophy (OCMD) [MIM:613587]: An inherited macular dystrophy characterized by progressive loss of macular function but normal ophthalmoscopic appearance. It is typically characterized by a central cone dysfunction leading to a loss of vision despite normal ophthalmoscopic appearance, normal fluorescein angiography, and normal full-field electroretinogram (ERGs), but the amplitudes of the focal macular ERGs and multifocal ERGs are significantly reduced at the central retina. {ECO:0000269 PubMed:20826268, ECO:0000269 PubMed:22605915}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for RP1L1
No data available for Genatlas for RP1L1 Gene
Publications for RP1L1 Gene
- Identification and characterisation of the retinitis pigmentosa 1-like1 gene (RP1L1): a novel candidate for retinal degenerations. (PMID: 12634863) Conte I … Banfi S (European journal of human genetics : EJHG 2003) 2 3 4 22 58
- Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene. (PMID: 12724644) Bowne SJ … Sullivan LS (Molecular vision 2003) 3 4 22 58
- Dominant mutations in RP1L1 are responsible for occult macular dystrophy. (PMID: 20826268) Akahori M … Iwata T (American journal of human genetics 2010) 3 4 58
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
- Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy. (PMID: 27029556) Liu YP … Cremers FP (Ophthalmic genetics 2017) 3 58
Products for RP1L1 Gene
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- VectorBuilder custom plasmid, inducible vectors for RP1L1
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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
- antibodies-online: Search results for available RP1L1 related products ranked by validation data
- antibodies-online: Search results for available RP1L1 related products ranked by validation data
- antibodies-online: Search results for available RP1L1 related products ranked by validation data
- Search GeneTex for Antibodies for RP1L1
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- ViGene Biosciences adenoviral particle packaged cDNA for RP1L1 gene
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- genomics-online: cdna clones - Search results for available RP1L1 gene related products
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Sources for RP1L1 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
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
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