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This gene encodes a member of the vitamin B12-binding protein family. This family of proteins, alternatively referred to as R binders, is expressed in various tissues and secretions. This protein is a major constituent of secondary granules in neutrophils and facilitates the transport of cobalamin into cells. [provided by RefSeq, Jul 2008] See more...
Aliases for TCN1 Gene
Aliases for TCN1 Gene
External Ids for TCN1 Gene
- HGNC: 11652
- Entrez Gene: 6947
- Ensembl: ENSG00000134827
- OMIM: 189905
- UniProtKB: P20061
Previous GeneCards Identifiers for TCN1 Gene
- GC11M062014
- GC11M061133
- GC11M059395
- GC11M059376
- GC11M059620
- GC11M055967
Summaries for TCN1 Gene
-
This gene encodes a member of the vitamin B12-binding protein family. This family of proteins, alternatively referred to as R binders, is expressed in various tissues and secretions. This protein is a major constituent of secondary granules in neutrophils and facilitates the transport of cobalamin into cells. [provided by RefSeq, Jul 2008]
GeneCards Summary for TCN1 Gene
TCN1 (Transcobalamin 1) is a Protein Coding gene. Diseases associated with TCN1 include Transcobalamin I Deficiency and Vitamin B12 Deficiency. Among its related pathways are Innate Immune System and Selenium Micronutrient Network. Gene Ontology (GO) annotations related to this gene include cobalamin binding. An important paralog of this gene is CBLIF.
UniProtKB/Swiss-Prot Summary for TCN1 Gene
-
Binds vitamin B12 with femtomolar affinity and protects it from the acidic environment of the stomach.
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TCN1 Gene
Genomics for TCN1 Gene
GeneHancer (GH) Regulatory Elements for TCN1 Gene
Promoters and enhancers for TCN1 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH11J059867 | Promoter | 0.8 | Ensembl | 750.6 | -0.3 | -333 | 0.6 | MYC MAX CEBPG TRIM24 PKNOX1 CEBPB HDAC1 SOX6 GABPA CTCF | TCN1 OOSP3 | |
| GH11J059866 | Promoter | 0.8 | EPDnew | 750.6 | +0.1 | 61 | 0.1 | MYC MAX CEBPG TRIM24 PKNOX1 CEBPB HDAC1 SOX6 GABPA CTCF | TCN1 lnc-TCN1-1 | |
| GH11J059864 | Enhancer | 0.5 | ENCODE | 750.6 | +1.4 | 1416 | 1.3 | FOSL1 JUN KDM1A MAFF JUND | TCN1 lnc-TCN1-1 | |
| GH11J060192 | Enhancer | 1.3 | Ensembl ENCODE dbSUPER | 10.4 | -328.7 | -328733 | 5.4 | ZNF24 SP1 CTCF SMARCE1 CC2D1A ETV6 L3MBTL2 RAD21 DACH1 TEAD4 | ENSG00000255139 TCN1 TMEM132A PATL1 MS4A6A MS4A6E MS4A2 piR-56133-042 MS4A4A piR-54764-089 | |
| GH11J059891 | Enhancer | 0.9 | Ensembl ENCODE | 11.9 | -25.5 | -25508 | 1 | SMARCE1 ZNF148 BACH1 SMARCA4 IKZF1 ATF1 PKNOX1 HDAC1 ZNF316 MTA2 | TCN1 CBLIF MS4A2 NONHSAG008417.2 piR-38351-077 OOSP3 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around TCN1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the TCN1 gene promoter:
-
- Brachyury
- CUTL1
- FOXD3
- NF-kappaB
- NF-kappaB1
- POU3F2
- TGIF
Genomic Locations for TCN1 Gene
Genomic Locations for TCN1 Gene
- chr11:59,852,800-59,866,568
- (GRCh38/hg38)
- Size:
- 13,769 bases
- Orientation:
- Minus strand
- chr11:59,620,273-59,634,048
- (GRCh37/hg19)
- Size:
- 13,776 bases
- Orientation:
- Minus strand
Genomic View for TCN1 Gene
Genes around TCN1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 11q12.1 by HGNC
- 11q12.1 by Entrez Gene
- 11q12.1 by Ensembl
TCN1 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 TCN1 Gene
Proteins for TCN1 Gene
-
Protein details for TCN1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P20061-TCO1_HUMAN
- Recommended name:
- Transcobalamin-1
- Protein Accession:
- P20061
- A8KAC5
- Q8WV77
Protein attributes for TCN1 Gene
- Size:
- 433 amino acids
- Molecular mass:
- 48207 Da
- Quaternary structure:
- No Data Available
Protein Expression for TCN1 Gene
Post-translational modifications for TCN1 Gene
Other Protein References for TCN1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Creative Diagnostics Anti-TCN1 (full length) polyclonal antibody and Anti-TCN1 (aa 405-433) polyclonal antibody
- Novus Biologicals Antibodies for TCN1
-
Abcam antibodies for TCN1
- Invitrogen Antibodies for TCN1 (AFLGC-TCN1)
Protein Products
-
OriGene Purified Proteins for TCN1
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- Origene Custom Protein Services for TCN1
- antibodies-online: Show 5 available TCN1 Proteins ranked by validation data
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-
Quality Products:
-
Abcam proteins for TCN1
Assay Products
- Aviva Systems Biology TCN1 ELISA Kit (Human) (OKEH02478) and TCN1 ELISA Kit (Human) (OKCD08982)
- antibodies-online: Show 14 available TCN1 Elisa Kits ranked by validation data
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-
Quality Products:
No data available for DME Specific Peptides for TCN1 Gene
Domains & Families for TCN1 Gene
Gene Families for TCN1 Gene
- Human Protein Atlas (HPA):
-
- Plasma proteins
- Predicted secreted proteins
Protein Domains for TCN1 Gene
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for TCN1 Gene
- GenScript: Design optimal peptide antigens:
-
- Transcobalamin I (TCO1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P20061- Family:
-
- Belongs to the eukaryotic cobalamin transport proteins family.
Function for TCN1 Gene
Molecular function for TCN1 Gene
- UniProtKB/Swiss-Prot Function:
- Binds vitamin B12 with femtomolar affinity and protects it from the acidic environment of the stomach.
- GENATLAS Biochemistry:
- transcobalamin 1 (vitamin B12 binding protein,R binder family),in secondary granules of mature neutrophils
Phenotypes From GWAS Catalog for TCN1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0031419 | cobalamin binding | IEA | -- |
Phenotypes for TCN1 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
-
OriGene CRISPR knockouts for TCN1
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- Overview of 38 available TCN1 gene related products
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-
Santa Cruz Biotechnology (SCBT) CRISPR for TCN1
miRNA for TCN1 Gene
- miRTarBase miRNAs that target TCN1
miRNA Products
Inhibitory RNA Products
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Clone Products
- Sino Biological Human cDNA Clone for TCN1
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- orf clones - Search for available TCN1 ORF products
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- Applied Biological Materials (abm): Clones for TCN1 - Select products 50% OFF >
- * TCN1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
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Cell Line Products
-
Horizon Cell Lines for TCN1
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TCN1 Gene
Localization for TCN1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for TCN1 Gene
- Secreted.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| plasma membrane | 1 |
| nucleus | 1 |
| cytosol | 1 |
| lysosome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | TAS | -- |
| GO:0005615 | extracellular space | HDA | 16502470 |
| GO:0035580 | specific granule lumen | TAS | -- |
| GO:1904724 | tertiary granule lumen | TAS | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for TCN1 Gene
Pathways & Interactions for TCN1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Innate Immune System |
.61
|
|
| 2 | Metabolism of water-soluble vitamins and cofactors | ||
| 3 | Cobalamin (Cbl, vitamin B12) transport and metabolism | ||
| 4 | Metabolism |
.40
|
|
| 5 | Selenium Micronutrient Network | ||
Pathways by source for TCN1 Gene
1 BioSystems pathway for TCN1 Gene
7 Reactome pathways for TCN1 Gene
Interacting Proteins for TCN1 Gene
GPS-Prot Interaction Network for TCN1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006811 | ion transport | IEA | -- |
| GO:0006824 | cobalt ion transport | IEA | -- |
| GO:0009235 | cobalamin metabolic process | TAS | -- |
| GO:0015889 | cobalamin transport | TAS,IEA | -- |
| GO:0043312 | neutrophil degranulation | TAS | -- |
No data available for SIGNOR curated interactions for TCN1 Gene
Drugs & Compounds for TCN1 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Drug Products
Transcripts for TCN1 Gene
mRNA/cDNA for TCN1 Gene
- (1) REFSEQ mRNAs :
- (6) Additional mRNA sequences :
- (71) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000257264 1486 bps (ENST00000257264.3)
- ENST00000529251 476 bps (ENST00000529251.1)
- ENST00000532419 745 bps (ENST00000532419.5)
- ENST00000533734 293 bps (ENST00000533734.1)
- ENST00000534531 684 bps (ENST00000534531.1)
CRISPR Products
-
OriGene CRISPR knockouts for TCN1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TCN1
- genomics-online: gRNA clones - Search for available TCN1 gRNA products
- Overview of 38 available TCN1 gene related products
- Applied Biological Materials (abm): CRISPR Clones for TCN1 - Select products 50% OFF >
- * TCN1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * TCN1 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for TCN1
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for TCN1
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- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TCN1
- genomics-online: shRNA clones - Search for available TCN1 shRNA products
- Overview of 38 available TCN1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for TCN1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TCN1
- genomics-online: cdna clones - Search for available TCN1 CDNA products
- Overview of 38 available TCN1 gene related products
- orf clones - Search for available TCN1 ORF products
- Overview of 38 available TCN1 gene related products
- Applied Biological Materials (abm): Clones for TCN1 - Select products 50% OFF >
- * TCN1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * TCN1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||||||||||||
| SP2: | - | ||||||||||||||||||||||
| SP3: | - | - |
Expression for TCN1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Granulocytes Peripheral Blood
- Bone (Muscoskeletal System)
-
Gall Bladder (Hepatobiliary System)
-
Stomach (Gastrointestinal Tract)
mRNA differential expression in normal tissues according to GTEx for TCN1 Gene
This gene is overexpressed in Minor Salivary Gland (x35.5), Whole Blood (x7.2), and Stomach (x4.1).
This gene is overexpressed in Saliva (14.1), Neutrophil (12.7), Milk (10.5), Salivary gland (10.4), Lavage (8.0), and Blymphocyte (6.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TCN1 Gene
NURSA nuclear receptor signaling pathways regulating expression of TCN1 Gene:
TCN1SOURCE GeneReport for Unigene cluster for TCN1 Gene:
Hs.2012mRNA Expression by UniProt/SwissProt for TCN1 Gene:
P20061-TCO1_HUMAN
Tissue specificity:
Produced by the salivary glands of the oral cavity, in response to ingestion of food. Major constituent of secondary granules in neutrophils.
Evidence on tissue expression from TISSUES for TCN1 Gene
- Bone marrow(4.4)
- Saliva(4.3)
- Stomach(2.6)
- Intestine(2.2)
- Gall bladder(2.1)
Primer Products
-
OriGene qPCR primer pairs for TCN1
-
OriGene qPCR primer pairs and template standards for TCN1
- genomics-online: primer clones - Search for available TCN1 Primer products
- Overview of 38 available TCN1 gene related products
Gene Expression Assay Products
No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for TCN1 Gene
Orthologs for TCN1 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | TCN1 33 32 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | TCN1 33 32 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | TCN1 33 32 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | TCN1 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | TCN1 33 |
|
OneToOne | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 33 |
|
OneToMany |
- Species where no ortholog for TCN1 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)
- chicken (Gallus gallus)
- 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)
- mouse (Mus musculus)
- oppossum (Monodelphis domestica)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rat (Rattus norvegicus)
- 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)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
- zebrafish (Danio rerio)
Evolution for TCN1 Gene
- ENSEMBL:
- Gene Tree for TCN1 (if available)
- TreeFam:
- Gene Tree for TCN1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for TCN1: view image
Paralogs for TCN1 Gene
Variants for TCN1 Gene
| SNP ID | Clin | Chr 11 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1209702636 | pathogenic, Transcobalamin I deficiency | 59,866,445(-) | A/ | coding_sequence_variant, frameshift | |
| rs1242630410 | uncertain-significance, Transcobalamin I deficiency | 59,859,118(-) | C/T | coding_sequence_variant, missense_variant | |
| rs34324219 | benign, not provided, - | 59,855,905(-) | C/A | coding_sequence_variant, missense_variant | |
| rs34528912 | benign, Transcobalamin I deficiency, not provided, - | 59,864,062(-) | C/T | coding_sequence_variant, missense_variant | |
| rs138846758 | likely-benign, not provided | 59,854,819(-) | G/A | coding_sequence_variant, synonymous_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2659739 | CNV | deletion | 23128226 |
| esv3626542 | CNV | loss | 21293372 |
| esv3626543 | CNV | loss | 21293372 |
| nsv442233 | CNV | loss | 18776908 |
| nsv825935 | CNV | loss | 20364138 |
Residual Variation Intolerance Score:
90.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
4.65;
65.76% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for TCN1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TCN1 Gene
Disorders for TCN1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| transcobalamin i deficiency |
|
|
| vitamin b12 deficiency |
|
|
| vitamin metabolic disorder |
|
|
| transcobalamin ii deficiency |
|
|
| pernicious anemia |
|
|
Search TCN1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for TCN1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for TCN1 Gene
Publications for TCN1 Gene
- Study of four genes belonging to the folate pathway: transcobalamin 2 is involved in the onset of non-syndromic cleft lip with or without cleft palate. (PMID: 16470748) Martinelli M … Carinci F (Human mutation 2006) 3 23 43 56
- Structural basis for universal corrinoid recognition by the cobalamin transport protein haptocorrin. (PMID: 23846701) Furger E … Prota AE (The Journal of biological chemistry 2013) 3 4 56
- Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 43 56
- Transcobalamin-II variants, decreased vitamin B12 availability and increased risk of frailty. (PMID: 20082058) Matteini AM … Fallin MD (The journal of nutrition, health & aging 2010) 3 23 56
- Associations of folate, vitamin B12, homocysteine, and folate-pathway polymorphisms with prostate-specific antigen velocity in men with localized prostate cancer. (PMID: 20852008) Collin SM … Martin RM (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2010) 3 43 56
ExternalLinks
Products for TCN1 Gene
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- OriGene qPCR primer pairs for TCN1
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- Browse Antibodies
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- Invitrogen Antibodies for TCN1 (AFLGC-TCN1)
- antibodies-online: Show 11 available TCN1 Antibodies ranked by validation data
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- Quality Products:
- antibodies-online: Show 5 available TCN1 Proteins ranked by validation data
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- Quality Products:
- Horizon Cell Lines for TCN1
- genomics-online: cdna clones - Search for available TCN1 CDNA products
- Overview of 38 available TCN1 gene related products
- orf clones - Search for available TCN1 ORF products
- Overview of 38 available TCN1 gene related products
- genomics-online: gRNA clones - Search for available TCN1 gRNA products
- Overview of 38 available TCN1 gene related products
- genomics-online: primer clones - Search for available TCN1 Primer products
- Overview of 38 available TCN1 gene related products
- genomics-online: shRNA clones - Search for available TCN1 shRNA products
- Overview of 38 available TCN1 gene related products
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Sources for TCN1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) CGAP SAGE
- (31) SOURCE
- (32) HomoloGene
- (33) PanEnsembl
- (34) euGenes
- (35) SGD
- (36) FlyBase
- (37) WormBase
- (38) Pseudogene
- (39) DGV
- (40) dbSNP
- (41) GenAtlas
- (42) HGMD
- (43) GAD
- (44) BGMUT
- (45) HuGE
- (46) Atlas
- (47) GenBank
- (48) H-invDB
- (49) HORDE
- (50) HUGE
- (51) IMGT
- (52) Leiden
- (53) miRBase
- (54) DME
- (55) OriGene
- (56) PubMed
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