Aliases for SERPINI1 Gene
Aliases for SERPINI1 Gene
External Ids for SERPINI1 Gene
- HGNC: 8943
- Entrez Gene: 5274
- Ensembl: ENSG00000163536
- OMIM: 602445
- UniProtKB: Q99574
Previous HGNC Symbols for SERPINI1 Gene
- PI12
Previous GeneCards Identifiers for SERPINI1 Gene
- GC03P164743
- GC03P168506
- GC03P168855
- GC03P168774
- GC03P168936
- GC03P167453
Summaries for SERPINI1 Gene
-
This gene encodes a member of the serpin superfamily of serine proteinase inhibitors. The protein is primarily secreted by axons in the brain, and preferentially reacts with and inhibits tissue-type plasminogen activator. It is thought to play a role in the regulation of axonal growth and the development of synaptic plasticity. Mutations in this gene result in familial encephalopathy with neuroserpin inclusion bodies (FENIB), which is a dominantly inherited form of familial encephalopathy and epilepsy characterized by the accumulation of mutant neuroserpin polymers. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
GeneCards Summary for SERPINI1 Gene
SERPINI1 (Serpin Family I Member 1) is a Protein Coding gene. Diseases associated with SERPINI1 include Encephalopathy, Familial, With Neuroserpin Inclusion Bodies and Encephalopathy. Among its related pathways are Cell adhesion_Plasmin signaling and Validated targets of C-MYC transcriptional activation. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase inhibitor activity. An important paralog of this gene is SERPINI2.
UniProtKB/Swiss-Prot for SERPINI1 Gene
-
Serine protease inhibitor that inhibits plasminogen activators and plasmin but not thrombin (PubMed:9442076, PubMed:26329378, PubMed:19265707, PubMed:19285087, PubMed:11880376). May be involved in the formation or reorganization of synaptic connections as well as for synaptic plasticity in the adult nervous system. May protect neurons from cell damage by tissue-type plasminogen activator (Probable).
Additional gene information for SERPINI1 Gene
- Monarch Initiative
- Search for SERPINI1 at DataMed
- Search for SERPINI1 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SERPINI1 Gene
Genomics for SERPINI1 Gene
GeneHancer (GH) Regulatory Elements for SERPINI1 Gene
Promoters and enhancers for SERPINI1 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| GH03I167732 | Promoter/Enhancer | 2.1 | EPDnew Ensembl ENCODE | 559.9 | -0.7 | -737 | 4.7 | HDGF PKNOX1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B IRF4 | SERPINI1 PDCD10 HMGN1P8 | |
| GH03I167773 | Promoter | 0.7 | EPDnew | 550.3 | +38.7 | 38703 | 0.1 | ZNF217 ATF7 EBF1 | SERPINI1 PDCD10 LRRC77P | |
| GH03I167691 | Enhancer | 0.8 | ENCODE | 17 | -43.7 | -43685 | 0.2 | PKNOX1 BACH1 EBF1 BMI1 BATF IRF4 RELA POLR2A NFATC1 ZNF143 | SERPINI1 PDCD10 ZBBX HMGN1P8 GC03P167665 | |
| GH03I167684 | Enhancer | 0.6 | ENCODE | 17.1 | -50.7 | -50655 | 0.2 | CTCF ZNF654 CEBPB CEBPG ATF2 RAD21 ATF4 ATF3 CEBPA ZNF143 | SERPINI1 WDR49 PDCD10 ZBBX HMGN1P8 GC03P167665 | |
| GH03I167749 | Enhancer | 0.8 | Ensembl ENCODE | 9.7 | +15.4 | 15354 | 1.5 | PKNOX1 JUNB CEBPG PAX8 ELF1 ATF2 IRF4 SP1 MITF MEF2D | SERPINI1 PDCD10 LRRC77P |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around SERPINI1 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for SERPINI1 Gene
Genomic Locations for SERPINI1 Gene
- chr3:167,735,243-167,825,569
- (GRCh38/hg38)
- Size:
- 90,327 bases
- Orientation:
- Plus strand
- chr3:167,453,031-167,543,357
- (GRCh37/hg19)
Genomic View for SERPINI1 Gene
Genes around SERPINI1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 3q26.1 by Ensembl
- 3q26.1 by Entrez Gene
- 3q26.1 by HGNC
SERPINI1 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 SERPINI1 Gene
Proteins for SERPINI1 Gene
-
Protein details for SERPINI1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q99574-NEUS_HUMAN
- Recommended name:
- Neuroserpin
- Protein Accession:
- Q99574
- A8K217
- D3DNP1
- Q6AHZ4
Protein attributes for SERPINI1 Gene
- Size:
- 410 amino acids
- Molecular mass:
- 46427 Da
- Quaternary structure:
-
- Monomer. Has a tendency to form large polymers already at 41 and 45 degrees Celsius (in vitro).
Protein Expression for SERPINI1 Gene
Post-translational modifications for SERPINI1 Gene
- Glycosylation at isoforms=157, isoforms=321, and isoforms=401
Other Protein References for SERPINI1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for SERPINI1 (Serpin I1)
-
Custom Antibody ServicesOriGene Antibodies for SERPINI1
- Novus Biologicals Antibodies for SERPINI1
-
Abcam antibodies for SERPINI1
-
Cloud-Clone Corp. Antibodies for SERPINI1
- Invitrogen Antibodies for SERPINI1
- GeneTex SERPINI1 antibody for SERPINI1
-
Santa Cruz Biotechnology (SCBT) Antibodies for SERPINI1
Protein Products
-
OriGene Purified Proteins for SERPINI1
- Search Origene for MassSpec and Protein Over-expression Lysates for SERPINI1
- Origene Custom Protein Services for SERPINI1
- Novus Biologicals proteins for SERPINI1
- ProSpec Recombinant Proteins for SERPINI1
-
Cloud-Clone Corp. Proteins for SERPINI1
- GeneTex Proteins for SERPINI1
-
ProSci Proteins for SERPINI1
-
Abcam proteins for SERPINI1
Assay Products
-
Cloud-Clone Corp. Assay Kits for SERPINI1
- antibodies-online: Search results for 3 available SERPINI1 Elisa Kits ranked by validation data
- Compare Top SERPINI1 Elisa Kits
-
Recommended
No data available for DME Specific Peptides for SERPINI1 Gene
Domains & Families for SERPINI1 Gene
Gene Families for SERPINI1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
- Predicted secreted proteins
Protein Domains for SERPINI1 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for SERPINI1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q99574- Family:
-
- Belongs to the serpin family.
Function for SERPINI1 Gene
Molecular function for SERPINI1 Gene
- UniProtKB/Swiss-Prot Function:
- Serine protease inhibitor that inhibits plasminogen activators and plasmin but not thrombin (PubMed:9442076, PubMed:26329378, PubMed:19265707, PubMed:19285087, PubMed:11880376). May be involved in the formation or reorganization of synaptic connections as well as for synaptic plasticity in the adult nervous system. May protect neurons from cell damage by tissue-type plasminogen activator (Probable).
Phenotypes From GWAS Catalog for SERPINI1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004867 | serine-type endopeptidase inhibitor activity | IDA | 9442076 |
| GO:0030414 | peptidase inhibitor activity | IEA | -- |
Phenotypes for SERPINI1 Gene
- MGI mutant phenotypes for SERPINI1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for SERPINI1:
Animal Models for SERPINI1 Gene
- MGI Knock Outs for SERPINI1:
-
- Serpini1 tm1Dpw
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for SERPINI1
-
-
ViGene Biosciences lentiviral particle packaged cDNA for SERPINI1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SERPINI1 gene
- Search ViGene Biosciences for SERPINI1
CRISPR Products
-
OriGene CRISPR knockouts for SERPINI1
- genomics-online: gRNA clones - Search results for available SERPINI1 gene related products
- Applied Biological Materials CRISPR for SERPINI1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for SERPINI1
- GenScript: Design CRISPR guide RNA sequences for SERPINI1
miRNA for SERPINI1 Gene
- miRTarBase miRNAs that target SERPINI1
miRNA Products
- Search ViGene Biosciences for SERPINI1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for SERPINI1
- Browse OriGene Inhibitory RNA Products For SERPINI1
- genomics-online: shRNA clones - Search results for available SERPINI1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for SERPINI1 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for SERPINI1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SERPINI1
-
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 SERPINI1
- genomics-online: cdna clones - Search results for available SERPINI1 gene related products
- orf clones - Search results for available SERPINI1 gene related products
- Applied Biological Materials Clones for SERPINI1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for SERPINI1
-
ViGene Biosciences adenoviral particle packaged cDNA for SERPINI1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for SERPINI1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SERPINI1 gene
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SERPINI1 Gene
Localization for SERPINI1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for SERPINI1 Gene
- Secreted. Cytoplasmic vesicle, secretory vesicle lumen. Perikaryon.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| endoplasmic reticulum | 3 |
| cytosol | 2 |
| lysosome | 1 |
- Cytosol (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | IEA | -- |
| GO:0005615 | extracellular space | IEA,IDA | 17040209 |
| GO:0031410 | cytoplasmic vesicle | IEA | -- |
| GO:0034774 | secretory granule lumen | IEA | -- |
| GO:0043025 | neuronal cell body | IEA,IDA | 17040209 |
Pathways & Interactions for SERPINI1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Cell adhesion_Plasmin signaling | ||
| 2 | Validated targets of C-MYC transcriptional activation | ||
Pathways by source for SERPINI1 Gene
1 BioSystems pathway for SERPINI1 Gene
1 GeneGo (Thomson Reuters) pathway for SERPINI1 Gene
Interacting Proteins for SERPINI1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007417 | central nervous system development | TAS | 9070919 |
| GO:0007422 | peripheral nervous system development | TAS | 9070919 |
| GO:0010466 | negative regulation of peptidase activity | IEA | -- |
| GO:0010951 | negative regulation of endopeptidase activity | IEA | -- |
| GO:0010976 | positive regulation of neuron projection development | IEA | -- |
No data available for SIGNOR curated interactions for SERPINI1 Gene
Transcripts for SERPINI1 Gene
mRNA/cDNA for SERPINI1 Gene
- (3) REFSEQ mRNAs :
- (4) Additional mRNA sequences :
- (92) Selected AceView cDNA sequences:
- (7) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for SERPINI1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for SERPINI1
- genomics-online: gRNA clones - Search results for available SERPINI1 gene related products
- Applied Biological Materials CRISPR for SERPINI1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for SERPINI1
- GenScript: Design CRISPR guide RNA sequences for SERPINI1
miRNA Products
- Search ViGene Biosciences for SERPINI1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for SERPINI1
- Browse OriGene Inhibitory RNA Products For SERPINI1
- genomics-online: shRNA clones - Search results for available SERPINI1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for SERPINI1 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for SERPINI1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SERPINI1
-
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 SERPINI1
- genomics-online: cdna clones - Search results for available SERPINI1 gene related products
- orf clones - Search results for available SERPINI1 gene related products
- Applied Biological Materials Clones for SERPINI1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||||||||
| SP2: | - | - | |||||||||||||||||||||||||
| SP3: | - | - | - | - | |||||||||||||||||||||||
| SP4: |
Expression for SERPINI1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Brain (Nervous System)
- Mature Endothelial Cells Blood Brain Barrier
- Hypothalamus
- Hippocampus
- Thalamus
- Cerebellum
-
Testis (Reproductive System)
- Leydig Cells Testis Interstitium
- XY Germ Cells Testis Cord
-
Hair (Integumentary System)
- Outer Root Sheath Cells Outer Root Sheath
-
Epithelial Cells
- Outer Root Sheath Cells Outer Root Sheath
-
Endothelium (Cardiovascular System)
- Mature Endothelial Cells Blood Brain Barrier
-
Peripheral Nervous System (Nervous System)
- Schwann Precursor Cells Peripheral Nerve Domain
-
Gonad
- XY Germ Cells Testis Cord
- Neurons (Uncategorized)
mRNA differential expression in normal tissues according to GTEx for SERPINI1 Gene
This gene is overexpressed in Brain - Frontal Cortex (BA9) (x9.0), Brain - Anterior cingulate cortex (BA24) (x8.3), Brain - Cortex (x5.9), and Brain - Spinal cord (cervical c-1) (x4.8).
This gene is overexpressed in Vitreous humor (53.4) and Cerebrospinal fluid (9.5).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SERPINI1 Gene
NURSA nuclear receptor signaling pathways regulating expression of SERPINI1 Gene:
SERPINI1SOURCE GeneReport for Unigene cluster for SERPINI1 Gene:
Hs.478153mRNA Expression by UniProt/SwissProt for SERPINI1 Gene:
Q99574-NEUS_HUMAN
Tissue specificity:
Detected in brain cortex and hippocampus pyramidal neurons (at protein level) (PubMed:17040209). Predominantly expressed in the brain (PubMed:9070919).
Evidence on tissue expression from TISSUES for SERPINI1 Gene
- Nervous system(4.9)
- Eye(4.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for SERPINI1 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- nervous
- skeletal muscle
Organs:
Head and neck:
- brain
- cerebellum
- cranial nerve
- eye
- head
General:
- peripheral nerve
- peripheral nervous system
- spinal cord
Primer Products
-
OriGene qPCR primer pairs for SERPINI1
-
OriGene qPCR primer pairs and template standards for SERPINI1
- genomics-online: primer clones - Search results for available SERPINI1 gene related products
No data available for Protein tissue co-expression partners for SERPINI1 Gene
Orthologs for SERPINI1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | SERPINI1 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | SERPINI1 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | SERPINI1 33 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Serpini1 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Serpini1 33 16 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | SERPINI1 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | SERPINI1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | SERPINI1 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | SERPINI1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | serpini1 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.8488 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | serpini1 33 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Spn42Da 33 |
|
||
| Spn4 35 34 |
|
||||
| Spn6 35 34 |
|
||||
| CG9455 35 |
|
|
|||
| Spn1 35 34 |
|
||||
| CG9460 35 |
|
|
|||
| Spn2 34 |
|
ManyToMany | |||
| Spn3 34 |
|
ManyToMany | |||
| Spn43Aa 35 34 |
|
||||
| Spn42Dc 34 |
|
ManyToMany | |||
| Spn42De 34 |
|
ManyToMany | |||
| Spn28Da 34 |
|
ManyToMany | |||
| Spn42Db 34 |
|
ManyToMany | |||
| CG6717 35 |
|
|
|||
| Spn7 34 |
|
ManyToMany | |||
| nec 35 34 |
|
||||
| Spn28Db 34 |
|
ManyToMany | |||
| Spn47C 34 |
|
ManyToMany | |||
| Spn43Ab 34 |
|
ManyToMany | |||
| African malaria mosquito (Anopheles gambiae) |
Insecta | SRPN10 33 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | srp-6 35 |
|
|
|
| srp-7 35 |
|
|
|||
| srp-1 35 |
|
|
- Species where no ortholog for SERPINI1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- 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 (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)
- wheat (Triticum aestivum)
Paralogs for SERPINI1 Gene
Paralogs for SERPINI1 Gene
(35) SIMAP similar genes for SERPINI1 Gene using alignment to 4 proteins:
- DKFZp686O07189
- SERPINI2
- SERPINB11
- SERPINE1
- DKFZp686D06190
- AT3
- SERPINE2
- SERPINB3
- SERPINA11
- SERPINA2
- SERPINH1
- SERPINE3
- SERPINB7
- SERPINB6
- SERPINB1
- SERPINA9
- SERPINA6
- SERPINA5
- SERPINA3
- SERPINA12
- SERPINC1
- SERPINB12
- SERPINB8
- SERPINB9
- SERPINB5
- SERPINA1
- SERPING1
- SERPIND1
- SERPINB2
- SERPINB10
- SERPINA7
- SERPINA10
- SCCA2
- SERPINB13
- SERPINB4
Variants for SERPINI1 Gene
| SNP ID | Clin | Chr 03 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1038529380 | uncertain-significance, Encephalopathy, familial, with neuroserpin inclusion bodies | 167,735,819(+) | G/A | 5_prime_UTR_variant, intron_variant | |
| rs1050515933 | uncertain-significance, Encephalopathy, familial, with neuroserpin inclusion bodies | 167,807,321(+) | C/G | coding_sequence_variant, missense_variant | |
| rs1050971384 | uncertain-significance, Encephalopathy, familial, with neuroserpin inclusion bodies | 167,789,294(+) | G/T | coding_sequence_variant, missense_variant | |
| rs113533056 | benign, Encephalopathy, familial, with neuroserpin inclusion bodies | 167,794,834(+) | T/G | intron_variant | |
| rs11547811 | likely-benign, Encephalopathy, familial, with neuroserpin inclusion bodies | 167,789,336(+) | A/G | coding_sequence_variant, missense_variant |
Residual Variation Intolerance Score:
70.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
5.57;
72.24% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for SERPINI1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SERPINI1 Gene
Disorders for SERPINI1 Gene
(7) MalaCards diseases for SERPINI1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| encephalopathy, familial, with neuroserpin inclusion bodies |
|
|
| encephalopathy |
|
|
| dementia |
|
|
| early-onset familial alzheimer disease |
|
|
| cerebral amyloid angiopathy, itm2b-related, 1 |
|
Search SERPINI1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
NEUS_HUMAN- Encephalopathy, familial, with neuroserpin inclusion bodies (FENIB) [MIM:604218]: A neurodegenerative disease clinically characterized by dementia. Additional features include intellectual decline, psychic seizures, progressive myoclonic epilepsy, and cerebral atrophy. Histologically, it is characterized by the presence of eosinophilic inclusion bodies (called Collins bodies) throughout the deeper layers of the cerebral cortex, leading to neuronal death. {ECO:0000269 PubMed:10517635, ECO:0000269 PubMed:11880376}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for SERPINI1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for SERPINI1 Gene
Publications for SERPINI1 Gene
- Human neuroserpin: structure and time-dependent inhibition. (PMID: 19265707) Ricagno S … Bolognesi M (Journal of molecular biology 2009) 3 4 22 58
- The 2.1-A crystal structure of native neuroserpin reveals unique structural elements that contribute to conformational instability. (PMID: 19285087) Takehara S … Lomas DA (Journal of molecular biology 2009) 3 4 22 58
- Identification of a novel targeting sequence for regulated secretion in the serine protease inhibitor neuroserpin. (PMID: 17040209) Ishigami S … Lawrence DA (The Biochemical journal 2007) 3 4 22 58
- Neuroserpin polymorphisms and stroke risk in a biracial population: the stroke prevention in young women study. (PMID: 17961231) Cole JW … Kittner SJ (BMC neurology 2007) 3 22 44 58
- Mutant Neuroserpin (S49P) that causes familial encephalopathy with neuroserpin inclusion bodies is a poor proteinase inhibitor and readily forms polymers in vitro. (PMID: 11880376) Belorgey D … Lomas DA (The Journal of biological chemistry 2002) 3 4 22 58
Products for SERPINI1 Gene
- R&D Systems Antibodies for SERPINI1 (Serpin I1)
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Primary Antibodies
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- Custom Antibody ServicesOriGene Antibodies for SERPINI1
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for SERPINI1
- Search Origene for MassSpec and Protein Over-expression Lysates for SERPINI1
- Origene Custom Protein Services for SERPINI1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SERPINI1
- Browse OriGene Inhibitory RNA Products For SERPINI1
- OriGene qPCR primer pairs and template standards for SERPINI1
- OriGene qPCR primer pairs for SERPINI1
- OriGene CRISPR knockouts for SERPINI1
- OriGene ORF clones in human for SERPINI1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For SERPINI1
- GenScript: Next-day shipping of latest version cDNA ORF clones for SERPINI1 in any vector
- GenScript Purified and Recombinant Proteins for SERPINI1
- GenScript Custom Purified and Recombinant Proteins Services for SERPINI1
- GenScript Custom Assay Services for SERPINI1
- GenScript Custom overexpressing Cell Line Services for SERPINI1
- GenScript: Design CRISPR guide RNA sequences for SERPINI1
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for SERPINI1
- Browse Sino Biological cDNA Clones
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Recombinant Proteins
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- Browse Sino Biological Assays
- Browse Sino Biological ELISA Kits
- Browse Sino Biological ELISA Pair Sets
- Browse Sino Biological CRO Services
- Browse Sino Biological Control Vectors
- Sino Biological Transfection Reagent
- Sino Biological Anti-His Tag Antibody
- Novus Biologicals Antibodies for SERPINI1
- Novus Biologicals proteins for SERPINI1
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Abcam antibodies for SERPINI1
- Abcam proteins for SERPINI1
- Find your target
- Browse Primary Antibodies
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- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- ProSpec Recombinant Proteins for SERPINI1
- Cloud-Clone Corp. Antibodies for SERPINI1
- Cloud-Clone Corp. Proteins for SERPINI1
- Cloud-Clone Corp. Assay Kits for SERPINI1
- Browse Knockouts at Cloud-Clone Corp.
- Browse Knockins at Cloud-Clone Corp.
- Cloud-Clone Corp. disease models service
- Browse cDNA clones at Cloud-Clone Corp.
- Browse primers at Cloud-Clone Corp.
- Cloud-Clone Corp. primary cells service
- Invitrogen Antibodies for SERPINI1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Cyagen custom Knockout/knockin (KOKI) mouse models for SERPINI1
- VectorBuilder custom plasmid, inducible vectors for SERPINI1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SERPINI1
- 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 SERPINI1
- antibodies-online: Search results for 131 available SERPINI1 Antibodies ranked by validation data
- Compare Top SERPINI1 Antibodies
- antibodies-online: Search results for 3 available SERPINI1 Elisa Kits ranked by validation data
- Compare Top SERPINI1 Elisa Kits
- Recommended
- antibodies-online: Search results for 19 available SERPINI1 Proteins ranked by validation data
- Compare Top SERPINI1 Proteins
- GeneTex SERPINI1 antibody for SERPINI1
- GeneTex Proteins for SERPINI1
- ViGene Biosciences adenoviral particle packaged cDNA for SERPINI1 gene
- ViGene Biosciences lentiviral particle packaged cDNA for SERPINI1 gene
- ViGene Biosciences ready-to-package AAV shRNAs for SERPINI1 gene
- Search ViGene Biosciences for SERPINI1
- Santa Cruz Biotechnology (SCBT) Antibodies for SERPINI1
- Search Santa Cruz Biotechnology (SCBT) for SERPINI1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for SERPINI1
- Horizon Cell Lines for SERPINI1
- genomics-online: cdna clones - Search results for available SERPINI1 gene related products
- orf clones - Search results for available SERPINI1 gene related products
- genomics-online: gRNA clones - Search results for available SERPINI1 gene related products
- genomics-online: primer clones - Search results for available SERPINI1 gene related products
- genomics-online: shRNA clones - Search results for available SERPINI1 gene related products
Sources for SERPINI1 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
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew