Aliases for SERPIND1 Gene
Aliases for SERPIND1 Gene
External Ids for SERPIND1 Gene
- HGNC: 4838
- Entrez Gene: 3053
- Ensembl: ENSG00000099937
- OMIM: 142360
- UniProtKB: P05546
Previous HGNC Symbols for SERPIND1 Gene
- HCF2
Previous GeneCards Identifiers for SERPIND1 Gene
- GC22P017827
- GC22P019452
- GC22P021139
- GC22P004396
Summaries for SERPIND1 Gene
-
This gene belongs to the serpin gene superfamily. Serpins play roles in many processes including inflammation, blood clotting, and cancer metastasis. Members of this family have highly conserved secondary structures with a reactive center loop that interacts with the protease active site to inhibit protease activity. This gene encodes a plasma serine protease that functions as a thrombin and chymotrypsin inhibitor. The protein is activated by heparin, dermatan sulfate, and glycosaminoglycans. Allelic variations in this gene are associated with heparin cofactor II deficiency. [provided by RefSeq, Jul 2015]
GeneCards Summary for SERPIND1 Gene
SERPIND1 (Serpin Family D Member 1) is a Protein Coding gene. Diseases associated with SERPIND1 include Thrombophilia Due To Heparin Cofactor Ii Deficiency and Cervix Uteri Carcinoma In Situ. Among its related pathways are Formation of Fibrin Clot (Clotting Cascade) and Complement and coagulation cascades. GO annotations related to this gene include heparin binding and endopeptidase inhibitor activity. An important paralog of this gene is SERPINA9.
UniProtKB/Swiss-Prot for SERPIND1 Gene
-
Thrombin inhibitor activated by the glycosaminoglycans, heparin or dermatan sulfate. In the presence of the latter, HC-II becomes the predominant thrombin inhibitor in place of antithrombin III (AT-III). Also inhibits chymotrypsin, but in a glycosaminoglycan-independent manner.
-
Peptides at the N-terminal of HC-II have chemotactic activity for both monocytes and neutrophils.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SERPIND1 Gene
Genomics for SERPIND1 Gene
Regulatory Elements for SERPIND1 Gene
Enhancers for SERPIND1 Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around SERPIND1 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the SERPIND1 gene promoter:
Regulatory Element Products
Genomic Location for SERPIND1 Gene
- Chromosome:
- 22
- Start:
- 20,773,879 bp from pter
- End:
- 20,787,720 bp from pter
- Size:
- 13,842 bases
- Orientation:
- Plus strand
Genomic View for SERPIND1 Gene
Genes around SERPIND1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 22q11.21 by Ensembl
- 22q11.21 by Entrez Gene
- 22q11.21 by HGNC
SERPIND1 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 SERPIND1 Gene
Proteins for SERPIND1 Gene
-
Protein details for SERPIND1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P05546-HEP2_HUMAN
- Recommended name:
- Heparin cofactor 2
- Protein Accession:
- P05546
- B2RAI1
- D3DX34
- Q6IBZ5
Protein attributes for SERPIND1 Gene
- Size:
- 499 amino acids
- Molecular mass:
- 57071 Da
- Quaternary structure:
- No Data Available
- SequenceCaution:
-
- Sequence=CAG30459.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for SERPIND1 Gene
Post-translational modifications for SERPIND1 Gene
- Phosphorylated by FAM20C in the extracellular medium.
- Glycosylation at isoforms=49, Asn188, and isoforms=387
- Modification sites at PhosphoSitePlus
Other Protein References for SERPIND1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for SERPIND1 (Serpin D1/Heparin Cofactor II)
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- antibodies-online Antibodies for SERPIND1: See all 69
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-
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Protein Products
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Cloud-Clone Corp. Proteins for SERPIND1
- antibodies-online Proteins for SERPIND1: See all 15
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ProSci Proteins for SERPIND1
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Abcam proteins for SERPIND1
Assay Products
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Cloud-Clone Corp Assay Kits for SERPIND1
- antibodies-online Kits for SERPIND1: See all 43
No data available for DME Specific Peptides for SERPIND1 Gene
Domains & Families for SERPIND1 Gene
Gene Families for SERPIND1 Gene
Protein Domains for SERPIND1 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for SERPIND1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P05546UniProtKB/Swiss-Prot:
HEP2_HUMAN :- The N-terminal acidic repeat region mediates, in part, the glycosaminoglycan-accelerated thrombin inhibition.
- Belongs to the serpin family.
- Domain:
-
- The N-terminal acidic repeat region mediates, in part, the glycosaminoglycan-accelerated thrombin inhibition.
- Family:
-
- Belongs to the serpin family.
Function for SERPIND1 Gene
Molecular function for SERPIND1 Gene
- UniProtKB/Swiss-Prot Function:
- Thrombin inhibitor activated by the glycosaminoglycans, heparin or dermatan sulfate. In the presence of the latter, HC-II becomes the predominant thrombin inhibitor in place of antithrombin III (AT-III). Also inhibits chymotrypsin, but in a glycosaminoglycan-independent manner.
- UniProtKB/Swiss-Prot Function:
- Peptides at the N-terminal of HC-II have chemotactic activity for both monocytes and neutrophils.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004866 | endopeptidase inhibitor activity | TAS | 2647747 |
| GO:0004867 | serine-type endopeptidase inhibitor activity | IBA | -- |
| GO:0008201 | heparin binding | IEA | -- |
| GO:0030414 | peptidase inhibitor activity | IEA | -- |
Phenotypes for SERPIND1 Gene
- MGI mutant phenotypes for SERPIND1:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for SERPIND1:
Animal Model Products
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-
-
ViGene Biosciences lentiviral particle packaged cDNA for SERPIND1 gene
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CRISPR Products
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-
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miRNA for SERPIND1 Gene
- miRTarBase miRNAs that target SERPIND1
miRNA Products
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Inhibitory RNA Products
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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 SERPIND1
-
ViGene Biosciences adenoviral particle packaged cDNA for SERPIND1 gene
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Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SERPIND1 Gene
Localization for SERPIND1 Gene
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| plasma membrane | 1 |
| peroxisome | 1 |
| nucleus | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | TAS | -- |
| GO:0005615 | extracellular space | IBA | -- |
| GO:0005788 | endoplasmic reticulum lumen | TAS | -- |
| GO:0070062 | extracellular exosome | IDA | 23376485 |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for SERPIND1 Gene
Pathways & Interactions for SERPIND1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Formation of Fibrin Clot (Clotting Cascade) | ||
| 2 | Complement and coagulation cascades | ||
| 3 | Response to elevated platelet cytosolic Ca2+ |
.44
|
|
Pathways by source for SERPIND1 Gene
1 BioSystems pathway for SERPIND1 Gene
4 Reactome pathways for SERPIND1 Gene
1 KEGG pathway for SERPIND1 Gene
1 R&D Systems pathway for SERPIND1 Gene
Interacting Proteins for SERPIND1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006935 | chemotaxis | IEA | -- |
| GO:0007596 | blood coagulation | TAS | -- |
| GO:0007599 | hemostasis | IEA | -- |
| GO:0008218 | bioluminescence | IEA | -- |
| GO:0010466 | negative regulation of peptidase activity | IEA | -- |
No data available for SIGNOR curated interactions for SERPIND1 Gene
Drugs & Compounds for SERPIND1 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| D-Mannose |
|
3458-28-4 |
Transcripts for SERPIND1 Gene
mRNA/cDNA for SERPIND1 Gene
- (1) REFSEQ mRNAs :
- (6) Additional mRNA sequences :
- (122) Selected AceView cDNA sequences:
- (2) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for SERPIND1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for SERPIND1
-
Santa Cruz Biotechnology (SCBT) CRISPR for SERPIND1
- GenScript: Design CRISPR guide RNA sequences for SERPIND1
miRNA Products
- Search ViGene Biosciences for SERPIND1
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for SERPIND1
- Browse OriGene Inhibitory RNA Products For SERPIND1
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ViGene Biosciences ready-to-package AAV shRNAs for SERPIND1 gene
Clone Products
-
OriGene ORF clones in human for SERPIND1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- VectorBuilder custom plasmid, inducible vectors for SERPIND1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SERPIND1
-
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
Expression for SERPIND1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Skeletal Muscle (Muscoskeletal System)
- Muscle Progenitor Cells Mandibular Arch Muscles
- Muscle Progenitor Cells Hyoid Arch Muscles
- Liver (Hepatobiliary System)
-
Brain (Nervous System)
- Myelinating Oligodendrocyte Cells Forebrain White Matter
-
Glial Cells
- Myelinating Oligodendrocyte Cells Forebrain White Matter
- Epithelial Cells (Uncategorized)
mRNA differential expression in normal tissues according to GTEx for SERPIND1 Gene
This gene is overexpressed in Liver (x48.8).
This gene is overexpressed in Serum (24.9), Synovial fluid (15.1), Plasma (14.1), and Monocytes (6.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SERPIND1 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of SERPIND1 Gene:
SERPIND1SOURCE GeneReport for Unigene cluster for SERPIND1 Gene:
Hs.474270mRNA Expression by UniProt/SwissProt for SERPIND1 Gene:
P05546-HEP2_HUMAN
Tissue specificity:
Expressed predominantly in liver. Also present in plasma.
Evidence on tissue expression from TISSUES for SERPIND1 Gene
- Liver(4.9)
- Bone marrow(4.1)
- Blood(2.7)
- Heart(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for SERPIND1 Gene
Germ Layers:
- mesoderm
Systems:
- cardiovascular
Organs:
General:
- blood
- blood vessel
- coagulation system
Primer Products
-
OriGene qPCR primer pairs for SERPIND1
-
OriGene qPCR primer pairs and template standards for SERPIND1
Orthologs for SERPIND1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | SERPIND1 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | SERPIND1 35 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Serpind1 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Serpind1 34 |
|
||
| cow (Bos Taurus) |
Mammalia | SERPIND1 34 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | SERPIND1 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | SERPIND1 35 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | SERPIND1 35 |
|
OneToOne | |
| zebrafish (Danio rerio) |
Actinopterygii | serpind1 35 |
|
OneToOne | |
| fruit fly (Drosophila melanogaster) |
Insecta | Spn5 35 |
|
ManyToMany | |
| Spn88Eb 35 |
|
ManyToMany | |||
| Spn27A 35 |
|
ManyToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.10120 35 |
|
ManyToMany | |
| -- 35 |
|
ManyToMany |
- Species where no ortholog for SERPIND1 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)
- platypus (Ornithorhynchus anatinus)
- 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)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for SERPIND1 Gene
Paralogs for SERPIND1 Gene
(23) SIMAP similar genes for SERPIND1 Gene using alignment to 2 proteins:
Variants for SERPIND1 Gene
| SNP ID | Clin | Chr 22 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs121912420 | Pathogenic, Thrombophilia due to heparin cofactor 2 deficiency (THPH10) [MIM:612356] | 20,786,951(+) | CATGC(C/T)GCTGT | intron-variant, reference, missense | |
| rs142451096 | Thrombophilia due to heparin cofactor 2 deficiency (THPH10) [MIM:612356] | 20,786,905(+) | TGAAC(A/G)AGGAA | intron-variant, reference, missense | |
| rs5907 | Pathogenic, Thrombophilia due to heparin cofactor 2 deficiency (THPH10) [MIM:612356] | 20,779,935(+) | TCATC(A/G)CCTCT | intron-variant, reference, missense | |
| rs587777759 | Pathogenic | 20,779,633(+) | CTGAT(-/T)GTGAG | intron-variant, reference, frameshift-variant | |
| rs587777760 | Pathogenic | 20,786,995(+) | TTCTT(-/TT)CCTCA | intron-variant, reference, frameshift-variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv4483n100 | CNV | gain | 25217958 |
| dgv7993n54 | CNV | gain | 21841781 |
| dgv7994n54 | CNV | gain | 21841781 |
| esv2678175 | CNV | deletion | 23128226 |
| esv2763693 | CNV | gain | 21179565 |
| esv3329090 | CNV | duplication | 20981092 |
| esv3647302 | CNV | loss | 21293372 |
| esv3647303 | CNV | gain | 21293372 |
| esv3893441 | CNV | gain+loss | 25118596 |
| nsv1056614 | CNV | loss | 25217958 |
| nsv1065617 | CNV | gain | 25217958 |
| nsv436864 | CNV | insertion | 17901297 |
| nsv523162 | CNV | loss | 19592680 |
| nsv588305 | CNV | loss | 21841781 |
| nsv834140 | CNV | loss | 17160897 |
Residual Variation Intolerance Score:
48.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.94;
49.14% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for SERPIND1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SERPIND1 Gene
Disorders for SERPIND1 Gene
(12) MalaCards diseases for SERPIND1 Gene - From: OMIM, ClinVar, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| thrombophilia due to heparin cofactor ii deficiency |
|
|
| cervix uteri carcinoma in situ |
|
|
| chronic cervicitis |
|
|
| acute cervicitis |
|
|
| cervix disease |
|
|
Search SERPIND1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
HEP2_HUMAN- Thrombophilia due to heparin cofactor 2 deficiency (THPH10) [MIM:612356]: A hemostatic disorder characterized by a tendency to recurrent thrombosis. {ECO:0000269 PubMed:10391209, ECO:0000269 PubMed:11204559, ECO:0000269 PubMed:15337701, ECO:0000269 PubMed:2647747}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Relevant External Links for SERPIND1
No data available for Genatlas for SERPIND1 Gene
Publications for SERPIND1 Gene
- Complete nucleotide sequence of the gene for human heparin cofactor II and mapping to chromosomal band 22q11. (PMID: 1671335) Herzog R. … Tollefsen D.M. (Biochemistry 1991) 2 3 4 22 64
- The N-terminal acidic domain of heparin cofactor II mediates the inhibition of alpha-thrombin in the presence of glycosaminoglycans. (PMID: 1939083) van Deerlin V.M.D. … Tollefsen D.M. (J. Biol. Chem. 1991) 3 4 22 64
- Update of the human and mouse SERPIN gene superfamily. (PMID: 24172014) Heit C. … Vasiliou V. (Hum. Genomics 2013) 2 3 64
- 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 S.D. … Anand S. (Diabetes Care 2010) 3 46 64
- Sucrose octasulfate selectively accelerates thrombin inactivation by heparin cofactor II. (PMID: 20053992) Sarilla S. … Verhamme I.M. (J. Biol. Chem. 2010) 3 22 64
Products for SERPIND1 Gene
- R&D Systems Antibodies for SERPIND1 (Serpin D1/Heparin Cofactor II)
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- Novus Biologicals Antibodies for SERPIND1
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- Abcam proteins for SERPIND1
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- Cloud-Clone Corp. Antibodies for SERPIND1
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- Cloud-Clone Corp Assay Kits for SERPIND1
- antibodies-online Antibodies for SERPIND1: See all 69
- antibodies-online Kits for SERPIND1: See all 43
- antibodies-online Proteins for SERPIND1: See all 15
- Search antibodies-online for peptides
- GeneTex SERPIND1 antibody for SERPIND1
- Search GeneTex for Proteins for SERPIND1
- ViGene Biosciences adenoviral particle packaged cDNA for SERPIND1 gene
- ViGene Biosciences lentiviral particle packaged cDNA for SERPIND1 gene
- ViGene Biosciences ready-to-package AAV shRNAs for SERPIND1 gene
- Search ViGene Biosciences for SERPIND1
- Santa Cruz Biotechnology (SCBT) Antibodies for SERPIND1
- Search Santa Cruz Biotechnology (SCBT) for SERPIND1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for SERPIND1
- Horizon Cell Lines for SERPIND1
- Cyagen custom Knockout/knockin (KOKI) mouse models for SERPIND1
- VectorBuilder custom plasmid, inducible vectors for SERPIND1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SERPIND1
- 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 SERPIND1 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
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