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The protein encoded by this gene is a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. This gene is one in a cluster of serpin genes located on the q arm of chromosome 14. Polymorphisms in this protein appear to be tissue specific and influence protease targeting. Variations in this protein's sequence have been implicated in Alzheimer'... See more...
Aliases for SERPINA3 Gene
Aliases for SERPINA3 Gene
External Ids for SERPINA3 Gene
- HGNC: 16
- NCBI Entrez Gene: 12
- Ensembl: ENSG00000196136
- OMIM®: 107280
- UniProtKB/Swiss-Prot: P01011
Previous HGNC Symbols for SERPINA3 Gene
- AACT
Previous GeneCards Identifiers for SERPINA3 Gene
- GC14P092585
- GC14P088870
- GC14P093019
- GC14P093020
- GC14P093070
- GC14P094148
- GC14P095078
- GC14P075259
Summaries for SERPINA3 Gene
-
The protein encoded by this gene is a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. This gene is one in a cluster of serpin genes located on the q arm of chromosome 14. Polymorphisms in this protein appear to be tissue specific and influence protease targeting. Variations in this protein's sequence have been implicated in Alzheimer's disease, and deficiency of this protein has been associated with liver disease. Mutations have been identified in patients with Parkinson disease and chronic obstructive pulmonary disease. [provided by RefSeq, Jun 2020]
GeneCards Summary for SERPINA3 Gene
SERPINA3 (Serpin Family A Member 3) is a Protein Coding gene. Diseases associated with SERPINA3 include Malignant Fibrous Histiocytoma and Alpha-1-Antitrypsin Deficiency. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Immune response_Oncostatin M signaling via JAK-Stat in human cells. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase inhibitor activity. An important paralog of this gene is SERPINA5.
UniProtKB/Swiss-Prot Summary for SERPINA3 Gene
-
Although its physiological function is unclear, it can inhibit neutrophil cathepsin G and mast cell chymase, both of which can convert angiotensin-1 to the active angiotensin-2.
Additional gene information for SERPINA3 Gene
- HGNC (16)
- NCBI Entrez Gene (12)
- Ensembl (ENSG00000196136)
- OMIM® (107280)
- UniProtKB/Swiss-Prot (P01011)
- Open Targets Platform(ENSG00000196136)
- Monarch Initiative
- Search for SERPINA3 at DataMed
- Search for SERPINA3 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SERPINA3 Gene
Genomics for SERPINA3 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for SERPINA3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around SERPINA3 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SERPINA3
- Top Transcription factor binding sites by QIAGEN in the SERPINA3 gene promoter:
-
- HNF-4alpha2
- PPAR-gamma1
- PPAR-gamma2
- STAT1
Genomic Locations for SERPINA3 Gene
Latest Assembly
- chr14:94,612,384-94,624,055
- (GRCh38/hg38)
- Size:
- 11,672 bases
- Orientation:
- Plus strand
Previous Assembly
- chr14:95,078,728-95,090,390
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 11,663 bases
- Orientation:
- Plus strand
- chr14:95,078,714-95,090,392
- (GRCh37/hg19 by Ensembl)
- Size:
- 11,679 bases
- Orientation:
- Plus strand
Genomic View for SERPINA3 Gene
Genes around SERPINA3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 14q32.13 by HGNC
- 14q32.13 by Entrez Gene
- 14q32.13 by Ensembl
SERPINA3 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 SERPINA3 Gene
Proteins for SERPINA3 Gene
-
Protein details for SERPINA3 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P01011-AACT_HUMAN
- Recommended name:
- Alpha-1-antichymotrypsin
- Protein Accession:
- P01011
- B3KVQ7
- Q13703
- Q2TU87
- Q2TU88
- Q59GP9
- Q6LBY8
- Q6LDT7
- Q6NSC9
- Q8N177
- Q96DW8
- Q9UC47
- Q9UNU9
Protein attributes for SERPINA3 Gene
- Size:
- 423 amino acids
- Molecular mass:
- 47651 Da
- Quaternary structure:
-
- Interacts with DNAJC1.
- SequenceCaution:
-
- Sequence=AAA51543.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAT08029.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=AAT08029.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAD92297.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=CAA48671.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
- Miscellaneous:
-
- Alpha-1-antichymotrypsin can bind DNA.
Three dimensional structures from OCA and Proteopedia for SERPINA3 Gene
Protein Expression for SERPINA3 Gene
Post-translational modifications for SERPINA3 Gene
Other Protein References for SERPINA3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences Alpha-1-Antichymotrypsin Antibody (LS-B5826) and Alpha-1-Antichymotrypsin Antibody (LS-B11198)
- G Biosciences Immunotag™ AACT Polyclonal Antibody and Immunotag™ SERPINA3 Antibody
- RayBiotech Rabbit anti-SERPIN A3
- NSJ Bioreagents SERPINA3 Antibody
-
Custom Antibody ServicesOriGene Antibodies for SERPINA3
- Novus Biologicals Antibodies for SERPINA3
-
Abcam antibodies for SERPINA3
- Invitrogen Antibodies for SERPINA3 (AFLGC-SERPINA3)
-
Custom Antibody ServicesProSci Antibodies for SERPINA3
- serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 [13-502]
- serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 [18-819]
- serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 [33-603]
- serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 [33-604]
- serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 [43-482]
- Alpha-1-antichymotrypsin [62-816]
-
Santa Cruz Biotechnology (SCBT) Antibodies for SERPINA3
- Sino Biological Antibodies for SERPINA3
Protein products for research
- G Biosciences Human Serpin A3/AACT, Lyophilized
- RayBiotech Recombinant Human AACT / SERPINA3
- Search Origene for MassSpec and Protein Over-expression Lysates for SERPINA3
- Origene Custom Protein Services for SERPINA3
- Sino Biological Cell Lysates for SERPINA3
- Sino Biological Recombinant Proteins for SERPINA3
- ProSpec Recombinant Proteins for SERPINA3
-
Abcam proteins for SERPINA3
Assay products for research
- Novus Biologicals ELISA Kits for SERPINA3
- antibodies-online: Show 32 available SERPINA3 Elisa Kits ranked by validation data
- Compare Top SERPINA3 Elisa Kits
-
Quality Products:
-
Boster Bio ELISA Kits for SERPINA3
-
Abcam assays for SERPINA3
- Sino Biological Assays for SERPINA3
No data available for DME Specific Peptides for SERPINA3 Gene
Domains & Families for SERPINA3 Gene
Gene Families for SERPINA3 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Candidate cardiovascular disease genes
- Plasma proteins
- Predicted intracellular proteins
- Predicted secreted proteins
Protein Domains for SERPINA3 Gene
- InterPro:
- Blocks:
-
- Serpin
- ProtoNet:
Suggested Antigen Peptide Sequences for SERPINA3 Gene
- GenScript: Design optimal peptide antigens:
-
- Serpin A3 (AACT_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P01011UniProtKB/Swiss-Prot:
AACT_HUMAN :- The reactive center loop (RCL) extends out from the body of the protein and directs binding to the target protease. The protease cleaves the serpin at the reactive site within the RCL, establishing a covalent linkage between the carboxyl group of the serpin reactive site and the serine hydroxyl of the protease. The resulting inactive serpin-protease complex is highly stable.
- Belongs to the serpin family.
- Domain:
-
- The reactive center loop (RCL) extends out from the body of the protein and directs binding to the target protease. The protease cleaves the serpin at the reactive site within the RCL, establishing a covalent linkage between the carboxyl group of the serpin reactive site and the serine hydroxyl of the protease. The resulting inactive serpin-protease complex is highly stable.
- Family:
-
- Belongs to the serpin family.
Function for SERPINA3 Gene
Molecular function for SERPINA3 Gene
- UniProtKB/Swiss-Prot Function:
- Although its physiological function is unclear, it can inhibit neutrophil cathepsin G and mast cell chymase, both of which can convert angiotensin-1 to the active angiotensin-2.
Phenotypes From GWAS Catalog for SERPINA3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003677 | DNA binding | TAS | 14668352 |
| GO:0004867 | serine-type endopeptidase inhibitor activity | IBA,TAS | 2404007 |
| GO:0005515 | protein binding | IPI | 12709365 |
| GO:0030414 | peptidase inhibitor activity | IEA | -- |
Phenotypes for SERPINA3 Gene
- MGI mutant phenotypes for SERPINA3:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for SERPINA3:
Animal Models for SERPINA3 Gene
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for SERPINA3 - Starting at $85 >
- * SERPINA3 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for SERPINA3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SERPINA3
-
Santa Cruz Biotechnology (SCBT) CRISPR for SERPINA3
miRNA for SERPINA3 Gene
- miRTarBase miRNAs that target SERPINA3
-
- hsa-miR-335-5p (MIRT016786)
- hsa-miR-137 (MIRT437804)
- hsa-miR-7111-3p (MIRT610040)
- hsa-miR-6852-3p (MIRT610041)
- hsa-miR-3909 (MIRT610042)
- hsa-miR-26b-3p (MIRT610043)
- hsa-miR-6817-3p (MIRT610044)
- hsa-miR-6769b-3p (MIRT610045)
- hsa-miR-4723-3p (MIRT610046)
- hsa-miR-3183 (MIRT610047)
- hsa-miR-2355-3p (MIRT613731)
- hsa-miR-676-3p (MIRT613732)
- hsa-miR-6500-3p (MIRT613733)
- hsa-miR-3614-5p (MIRT613734)
- hsa-miR-4776-3p (MIRT618446)
- hsa-miR-4659b-5p (MIRT618447)
- hsa-miR-4659a-5p (MIRT618448)
- hsa-miR-5590-5p (MIRT618449)
- hsa-miR-197-3p (MIRT618450)
- hsa-miR-138-2-3p (MIRT618451)
- hsa-miR-5096 (MIRT644599)
- hsa-miR-499b-5p (MIRT644600)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SERPINA3
- Browse OriGene Inhibitory RNA Products For SERPINA3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SERPINA3
Clone products for research
- Applied Biological Materials (abm): Clones for SERPINA3 - Starting at $45 >
- * SERPINA3 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for SERPINA3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SERPINA3
Cell Lines for research
-
Horizon Cell Lines for SERPINA3
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SERPINA3 Gene
Localization for SERPINA3 Gene
Subcellular locations from UniProtKB/Swiss-Prot for SERPINA3 Gene
- Secreted.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| nucleus | 5 |
| lysosome | 4 |
| plasma membrane | 2 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| endoplasmic reticulum | 2 |
| cytosol | 2 |
| peroxisome | 1 |
| endosome | 1 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | TAS | -- |
| GO:0005615 | extracellular space | IEA,IDA | 25645918 |
| GO:0005634 | nucleus | TAS | 14668352 |
| GO:0031093 | platelet alpha granule lumen | TAS | -- |
| GO:0034774 | secretory granule lumen | TAS | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for SERPINA3 Gene
Pathways & Interactions for SERPINA3 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Response to elevated platelet cytosolic Ca2+ |
.44
|
|
| 2 | Innate Immune System |
.61
|
|
| 3 | Folate Metabolism | ||
| 4 | Development_Thrombopoetin signaling via JAK-STAT pathway |
Development_Thrombopoetin signaling via JAK-STAT pathway
-
|
|
| 5 | Immune response_Oncostatin M signaling via JAK-Stat in human cells |
Immune response_Oncostatin M signaling via JAK-Stat in human cells
-
|
|
Pathways by source for SERPINA3 Gene
3 BioSystems pathways for SERPINA3 Gene
7 Reactome pathways for SERPINA3 Gene
2 GeneGo (Thomson Reuters) pathways for SERPINA3 Gene
- Development_Thrombopoetin signaling via JAK-STAT pathway
- Immune response_Oncostatin M signaling via JAK-Stat in human cells
Interacting Proteins for SERPINA3 Gene
Selected Interacting proteins:
P01011-AACT_HUMAN
ENSP00000376793
ENSP00000450540
for SERPINA3 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for SERPINA3
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002576 | platelet degranulation | TAS | -- |
| GO:0006953 | acute-phase response | IEA | -- |
| GO:0006954 | inflammatory response | NAS | 12475184 |
| GO:0010466 | negative regulation of peptidase activity | IEA | -- |
| GO:0010951 | negative regulation of endopeptidase activity | IBA | 21873635 |
Drugs & Compounds for SERPINA3 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Zinc | Approved, Investigational | Pharma | Target | 1687 | ||
| zinc acetate | Approved, Investigational | Pharma | Target | 0 | ||
| Zinc chloride | Approved, Investigational | Pharma | Target, binder | 0 | ||
| Zinc sulfate, unspecified form | Approved, Experimental | Pharma | Target, binder | 0 | ||
| Citric acid | Approved, Vet_approved | Nutra | Target | 1584 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Drug products for research
- G Biosciences Human Serpin A3/AACT, Lyophilized
- RayBiotech Recombinant Human AACT / SERPINA3
Transcripts for SERPINA3 Gene
mRNA/cDNA for SERPINA3 Gene
- 4 REFSEQ mRNAs :
- 19 NCBI additional mRNA sequence :
- 9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000393078 1576 nts (view in UCSC)
- ENST00000393080 1581 nts (view in UCSC)
- ENST00000467132 2660 nts (view in UCSC)
- ENST00000482740 2420 nts (view in UCSC)
- ENST00000485588 575 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for SERPINA3 - Starting at $85 >
- * SERPINA3 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for SERPINA3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SERPINA3
-
Santa Cruz Biotechnology (SCBT) CRISPR for SERPINA3
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SERPINA3
- Browse OriGene Inhibitory RNA Products For SERPINA3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SERPINA3
Clone products for research
- Applied Biological Materials (abm): Clones for SERPINA3 - Starting at $45 >
- * SERPINA3 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for SERPINA3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SERPINA3
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4a | · | 4b | ^ | 5a | · | 5b | · | 5c | · | 5d | · | 5e | ^ | 6a | · | 6b | · | 6c | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | · | 9c | · | 9d | ^ | 10 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP10: | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP11: | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP12: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||
| SP13: |
Relevant External Links for SERPINA3 Gene
- GeneLoc Exon Structure for
- SERPINA3
Expression for SERPINA3 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Bone (Muscoskeletal System)
- Cartilage (Muscoskeletal System)
- Neural Crest (Gastrulation Derivatives)
-
Eye (Sensory Organs)
- Adult Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
- Retina
- Limbal epithelial stem cells
- Limbal epithelial stem cells (family)
-
Epithelial Cells
- Adult Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
- Limbal epithelial stem cells
- Limbal epithelial stem cells (family)
- Paraxial Mesoderm (Gastrulation Derivatives)
- Neural Tube (Nervous System)
- Thymus (Hematopoietic System)
- Adipose (Muscoskeletal System)
- Mesoderm (Gastrulation Derivatives)
-
Liver (Hepatobiliary System)
mRNA differential expression in normal tissues according to GTEx for SERPINA3 Gene
This gene is overexpressed in Liver (x24.0) and Pancreas (x11.8).
This gene is overexpressed in Serum (11.3), Plasma (10.9), and Synovial fluid (7.6).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SERPINA3 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SERPINA3
SOURCE GeneReport for Unigene cluster for SERPINA3 Gene:
Hs.534293mRNA Expression by UniProt/SwissProt for SERPINA3 Gene:
P01011-AACT_HUMAN
Tissue specificity:
Plasma. Synthesized in the liver. Like the related alpha-1-antitrypsin, its concentration increases in the acute phase of inflammation or infection. Found in the amyloid plaques from the hippocampus of Alzheimer disease brains.
Evidence on tissue expression from TISSUES for SERPINA3 Gene
- Liver(5)
- Nervous system(5)
- Pancreas(4.9)
- Skin(4.8)
- Bone marrow(4.3)
- Eye(4.3)
- Lung(3.8)
- Blood(3.7)
- Kidney(3.3)
- Heart(3.3)
- Intestine(3.2)
- Stomach(3.1)
- Spleen(3)
- Muscle(2.8)
- Gall bladder(2.6)
- Lymph node(2)
Primer products for research
-
OriGene qPCR primer pairs for SERPINA3
-
OriGene qPCR primer pairs and template standards for SERPINA3
Gene Expression Assays for research
No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SERPINA3 Gene
Orthologs for SERPINA3 Gene
This gene was present in the common ancestor of mammals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | SERPINA3 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | SERPINA3-1 30 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| -- 31 |
|
OneToMany | |||
| SERPINA3-6 31 |
|
OneToMany | |||
| -- 31 |
|
OneToMany | |||
| -- 31 |
|
OneToMany | |||
| -- 31 |
|
OneToMany | |||
| Dog (Canis familiaris) |
Mammalia | SERPINA3 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Serpina3n 30 17 31 |
|
OneToMany | |
| Serpina3m 17 31 |
|
OneToMany | |||
| Serpina3i 31 |
|
OneToMany | |||
| Serpina3c 17 31 |
|
OneToMany | |||
| Serpina3k 17 31 |
|
OneToMany | |||
| Serpina3f 31 |
|
OneToMany | |||
| Serpina3g 31 |
|
OneToMany | |||
| Serpina3j 31 |
|
OneToMany | |||
| Serpina3b 31 |
|
OneToMany | |||
| Serpina3a 31 |
|
OneToMany | |||
| Rat (Rattus norvegicus) |
Mammalia | Serpina3n 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| Oppossum (Monodelphis domestica) |
Mammalia | SERPINA3 31 |
|
OneToOne |
- Species where no ortholog for SERPINA3 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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)
- Lizard (Anolis carolinensis)
- 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 Vase (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)
- Worm (Caenorhabditis elegans)
- Zebrafish (Danio rerio)
Evolution for SERPINA3 Gene
- ENSEMBL:
- Gene Tree for SERPINA3 (if available)
- TreeFam:
- Gene Tree for SERPINA3 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for SERPINA3: view image
Paralogs for SERPINA3 Gene
Paralogs for SERPINA3 Gene
- SERPINA5 5
- SERPINA1 5
- SERPINA9 5
- SERPINA4 5
- SERPINA6 5
- SERPINA7 5
- SERPINA11 5
- SERPINA12 5
- SERPINB1 5
- SERPINA10 5
- SERPINC1 5
- SERPIND1 5
- SERPINB9 5
- SERPINB6 5
- SERPINB2 5
- SERPINB10 5
- SERPINB8 5
- SERPINB4 5
- SERPINB3 5
- SERPINB12 5
- SERPINB11 5
- SERPINB7 5
- SERPINI2 5
- SERPING1 5
- SERPINE1 5
- SERPINA2 5
- SERPINF2 5
- SERPINB13 5
- SERPINE2 5
- SERPINF1 5
- SERPINI1 5
- SERPINE3 5
- SERPINB5 5
- SERPINH1 5
- AGT 5
- HMSD 5
(36) SIMAP similar genes for SERPINA3 Gene using alignment to 4 proteins:
- AACT_HUMAN
- G3V3A0_HUMAN
- G3V595_HUMAN
- G3V5I3_HUMAN
- SERPINA6
- SERPINA1
- SERPINA5
- SERPINA7
- SERPINA9
- SERPINA11
- AT3
- SERPINA4
- SERPINA12
- DKFZp686D06190
- SERPINB11
- SERPINI2
- SERPINB3
- AAT
- SERPINB1
- SERPINA2
- SERPINB4
- SERPINI1
- SERPINB6
- SERPINA2P
- HMSD
- SERPINB7
- SERPINA13P
- SERPINA10
- SCCA2
- DKFZp686O07189
- SERPINB13
- SERPINC1
- SERPINB9
- SERPINB8
- SERPIND1
- SERPINB12
- SERPINB10
- SERPING1
- SERPINE1
- SERPINB2
Pseudogenes.org Pseudogenes for SERPINA3 Gene
Variants for SERPINA3 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SERPINA3 Gene
| SNP ID | Clinical significance and condition | Chr 14 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs112967031 | Benign: not provided | 94,619,373(+) |
A/C NM_001085.5(SERPINA3):c.822A>C (p.Ala274=) |
SYNONYMOUS | |
| rs113864331 | Benign: not provided | 94,619,349(+) |
G/A NM_001085.5(SERPINA3):c.798G>A (p.Leu266=) |
SYNONYMOUS | |
| rs116929575 | Uncertain Significance: ANTICHYMOTRYPSIN ISEHARA 1; Peripheral arterial occlusive disease 1 | 94,623,782(+) |
A/G NM_001085.5(SERPINA3):c.1240A>G (p.Met414Val) |
MISSENSE | |
| rs139747783 | Likely Benign: not provided | 94,619,444(+) |
G/A NM_001085.5(SERPINA3):c.893G>A (p.Arg298Gln) |
MISSENSE | |
| rs140884476 | Uncertain Significance: not provided | 94,619,275(+) |
C/A NM_001085.5(SERPINA3):c.724C>A (p.Pro242Thr) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
Residual Variation Intolerance Score:
78.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
7.07;
80.38% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for SERPINA3 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SERPINA3 Gene
Disorders for SERPINA3 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| malignant fibrous histiocytoma |
|
|
| alpha-1-antitrypsin deficiency |
|
|
| fibrosarcoma of bone |
|
|
| fibrous histiocytoma |
|
|
| benign giant cell tumor |
|
|
Search SERPINA3 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for SERPINA3
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for SERPINA3 Gene
Publications for SERPINA3 Gene
- Alpha-1 antichymotrypsin gene signal peptide a/t polymorphism and primary intracerebral hemorrhage. (PMID: 18408372) Dardiotis E … Karantanas A (European neurology 2008) 3 23 41
- Alpha 1 antichymotrypsin genotype is associated with increased risk of prostate carcinoma and PSA levels. (PMID: 18383875) Licastro F … Martorana G (Anticancer research 2008) 3 23 41
- The alanine/threonine polymorphism of the alpha-1-antichymotrypsin (SERPINA3) gene and ruptured intracranial aneurysms in the Japanese population. (PMID: 16968986) Krischek B … Inoue I (Cerebrovascular diseases (Basel, Switzerland) 2007) 3 23 41
- Alpha-1-antichymotrypsin (ACT or SERPINA3) polymorphism may affect age-at-onset and disease duration of Alzheimer's disease. (PMID: 16137793) Kamboh MI … DeKosky ST (Neurobiology of aging 2006) 3 23 41
- A new promoter polymorphism in the alpha-1-antichymotrypsin gene is a disease modifier of Alzheimer's disease. (PMID: 15653173) Licastro F … Canal N (Neurobiology of aging 2005) 3 23 41
ExternalLinks
Products for SERPINA3 Gene
- View all 5 R&D Systems SERPINA3 (Serpin A3/alpha 1-Antichymotrypsin) Products
- View all R&D Systems SERPINA3 (Serpin A3/alpha 1-Antichymotrypsin) Proteins and Enzymes
- View all 3 R&D Systems SERPINA3 (Serpin A3/alpha 1-Antichymotrypsin) Primary Antibodies
- View all R&D Systems SERPINA3 (Serpin A3/alpha 1-Antichymotrypsin) Proteome Profiler Antibody Arrays
- Learn more about R&D Systems custom SERPINA3 antibody, protein, and immunoassay development services
- Custom Antibody ServicesOriGene Antibodies for SERPINA3
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for SERPINA3
- Origene Custom Protein Services for SERPINA3
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SERPINA3
- Browse OriGene Inhibitory RNA Products For SERPINA3
- OriGene qPCR primer pairs for SERPINA3
- OriGene qPCR primer pairs and template standards for SERPINA3
- OriGene CRISPR knockouts for SERPINA3
- OriGene ORF clones in human for SERPINA3
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For SERPINA3
- Sino Biological Human cDNA Clone for SERPINA3
- Sino Biological Cell Lysates for SERPINA3
- Sino Biological Recombinant Proteins for SERPINA3
- Sino Biological Antibodies for SERPINA3
- Sino Biological Assays for SERPINA3
- Browse Recombinant Proteins
- Browse Antibodies
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for SERPINA3
- Novus Biologicals proteins and lysates for SERPINA3
- Novus Biologicals ELISA Kits for SERPINA3
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for SERPINA3
- Abcam proteins for SERPINA3
- Abcam assays for SERPINA3
- Find your target
- Browse Primary Antibodies
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- Browse Proteins and Peptides
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- VectorBuilder Custom and pre-made DNA vectors for SERPINA3 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for SERPINA3 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for SERPINA3 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for SERPINA3 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for SERPINA3
- antibodies-online: Show 203 available SERPINA3 Antibodies ranked by validation data
- Compare Top SERPINA3 Antibodies
- antibodies-online: Show 32 available SERPINA3 Elisa Kits ranked by validation data
- Compare Top SERPINA3 Elisa Kits
- Quality Products:
- antibodies-online: Show 32 available SERPINA3 Proteins ranked by validation data
- Compare Top SERPINA3 Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for SERPINA3
- Search Santa Cruz Biotechnology (SCBT) for SERPINA3 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for SERPINA3
- Custom Antibody ServicesProSci Antibodies for SERPINA3
- serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 [13-502]
- serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 [18-819]
- serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 [33-603]
- serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 [33-604]
- serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 [43-482]
- Alpha-1-antichymotrypsin [62-816]
- Horizon Cell Lines for SERPINA3
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SERPINA3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SERPINA3
- Search GeneCopoeia for miRNA 3'UTR Target clone products for SERPINA3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SERPINA3
Sources for SERPINA3 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (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) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) MedlinePlus Genetics
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNAcentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Open Targets Platform
- (175) 5SRRNADB
- (176) snoDB
- (177) MirGeneDB