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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SERPINA3 Gene

protein-coding GIFtS: 61
GCID: GC14P095078

serpin peptidase inhibitor, clade A (alpha-1 antiproteinase,...

(Previous names: alpha-1-antichymotrypsin, serine (or cysteine) proteinase...)
(Previous symbol: AACT)

Explore 134 diseases affiliated with
SERPINA3 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Serpin Peptidase Inhibitor, Clade A (Alpha-1 Antiproteinase, Antitrypsin), Member 3¹ ²		Serine (Or Cysteine) Proteinase Inhibitor, Clade A (Alpha-1 Antiproteinase, Antitrypsin), Member 3¹
AACT¹ ² ³ ⁵		GIG25²
ACT¹ ² ³ ⁵		Growth-Inhibiting Protein 24²
Alpha-1-Antichymotrypsin¹		Growth-Inhibiting Protein 25²
Cell Growth-Inhibiting Gene 24/25 Protein² ³		Serine (Or Cysteine) Proteinase Inhibitor, Clade A, Member 3²
Serpin A3² ³

External Ids:	HGNC: 16¹	Entrez Gene: 12²	Ensembl: ENSG00000196136⁷	OMIM: 107280⁵	UniProtKB: P01011³

Export aliases for SERPINA3 gene to outside databases

Previous GC identifers: GC14P092585 GC14P088870 GC14P093019 GC14P093020 GC14P093070 GC14P094148 GC14P075259

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SERPINA3:

The protein encoded by this gene is a plasma protease inhibitor and member of the serine protease inhibitor class.

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, Jul 2008)

UniProtKB/Swiss-Prot: AACT_HUMAN, P01011

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

Gene Wiki entry for SERPINA3 (Alpha 1-antichymotrypsin)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000014.8 NC_018925.1 NT_026437.12

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SERPINA3 gene promoter:
PPAR-gamma1 STAT1 HNF-4alpha2 PPAR-gamma2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SERPINA3 promoter sequence

Search SABiosciences Chromatin IP Primers for SERPINA3

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SERPINA3

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q32.1 Ensembl cytogenetic band: 14q32.13 HGNC cytogenetic band: 14q32.1

SERPINA3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SERPINA3 gene location

GeneLoc information about chromosome 14 GeneLoc Exon Structure

GeneLoc location for GC14P095078: view genomic region (about GC identifiers)

Start:	95,058,395 bp from pter	End:	95,090,983 bp from pter
Size:	32,589 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: AACT_HUMAN, P01011 (See protein sequence)

Recommended Name: Alpha-1-antichymotrypsin precursor

Size: 423 amino acids; 47651 Da

Subunit: Interacts with DNAJC1

Subcellular location: Secreted

Miscellaneous: Alpha-1-antichymotrypsin can bind DNA

Caution: It is uncertain whether Met-1 or Met-4 is the initiator

Sequence caution: Sequence=AAA51543.1; Type=Frameshift; Positions=101, 106, 111, 117, 123, 129, 421;

Sequence=AAT08029.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAT08029.1;

Type=Frameshift; Positions=4; Sequence=BAD92297.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

Sequence=CAA48671.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

6 PDB 3D structures from and Proteopedia for SERPINA3:

1AS4 (3D)

1QMN (3D)

2ACH (3D)

3CAA (3D)

3DLW (3D)

4CAA (3D)

Secondary accessions: B3KVQ7 Q13703 Q2TU87 Q2TU88 Q59GP9 Q6LBY8 Q6LDT7 Q6NSC9 Q8N177 Q96DW8 Q9UC47

Q9UNU9

Alternative splicing: 3 isoforms: P01011-1 P01011-2 P01011-3 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SERPINA3: NX_P01011

Post-translational modifications:

N- and O-glycosylated¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P01011

SERPINA3 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001076.2

ENSEMBL proteins:

ENSP00000452367 ENSP00000376795 ENSP00000452246 ENSP00000450540 ENSP00000452476

ENSP00000451119 ENSP00000376793

Human Recombinant Protein Products:

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	ProSpec Recombinant Protein for SERPINA3
	Browse Proteins at Uscn

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	NAS	14718574
GO:0005622	intracellular	NAS	9880565
GO:0005634	nucleus	TAS	14668352

SERPINA3 for ontologies About GeneDecksing

SERPINA3 Antibody Products:

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	ThermoFisher Antibodies for SERPINA3

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	Browse ELISAs and CLIAs at Uscn

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

SERPINA3 for domains About GeneDecksing

3 InterPro domains/families:

IPR023795 Protease_inhib_I4_serpin_CS

IPR023796 Serpin_dom

IPR000215 Serpin_fam

Graphical View of Domain Structure for InterPro Entry P01011

ProtoNet protein and cluster: P01011

1 Blocks protein family: IPB000215 Serpin

UniProtKB/Swiss-Prot: AACT_HUMAN, P01011

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

Similarity: Belongs to the serpin family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: AACT_HUMAN, P01011

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

miRNA Products:		OriGene 3'-UTR Clone: SERPINA3 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SERPINA3
		1 QIAGEN miScript miRNA Assays for microRNA that regulate SERPINA3:
		hsa-miR-137
		SwitchGear 3'UTR luciferase reporter plasmid: SERPINA3 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Gene Editing
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		Search LifeMap BioReagents cell lines for SERPINA3

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SERPINA3

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003677	DNA binding	TAS	14668352
GO:0004867	serine-type endopeptidase inhibitor activity	TAS	2404007
GO:0005515	protein binding	IPI	14668352

SERPINA3 for ontologies About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Development Thrombopoetin signaling via JAK-STAT pathway

Development Thrombopoetin signaling via JAK-STAT pathway

1.00

Development_Thrombopoetin signaling via JAK-STAT pathway

1.00

Serine phosphorylation of STATs

Immune response_Oncostatin M signaling via JAK-Stat in human cells

0.29

Immune response Oncostatin M signaling via JAK-Stat in human cells

0.29

Selenium Pathway

Selenium Pathway

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

2 EMD Millipore Pathways for SERPINA3

	Immune response Oncostatin M signaling via JAK-Stat in human cells
	Development Thrombopoetin signaling via JAK-STAT pathway

2 GeneGo (Thomson Reuters) Pathways for SERPINA3

	Immune response Oncostatin M signaling via JAK-Stat in human cells
	Development Thrombopoetin signaling via JAK-STAT pathway

1 BioSystems Pathway for SERPINA3

Selenium Pathway

SERPINA3 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for SERPINA3

5/21 Interacting proteins for SERPINA3 (P01011^{1, 3}) via UniProtKB, MINT, STRING, and/or I2D (see all 21)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
DNAJC1	Q96KC8¹^,³	EBI-296557,EBI-296550 I2D: score=3
ELANE	P08246³	I2D: score=3
ADAMTS4	O75173³	I2D: score=2
APP	P05067³	I2D: score=2
CTRC	Q99895³	I2D: score=2

About this table

Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006953	acute-phase response	IEA	--
GO:0006954	inflammatory response	NAS	12475184
GO:0010951	negative regulation of endopeptidase activity	IBA	--
GO:0019216	regulation of lipid metabolic process	NAS	11835318
GO:0030162	regulation of proteolysis	IBA	--

SERPINA3 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

SERPINA3 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for SERPINA3
10/56 Novoseek chemical compound relationships for SERPINA3 gene (see all 56) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
contrapsin	74.6	2	7891100 (1), 1724904 (1)
serine	70.8	89	7759598 (2), 8892350 (2), 1958574 (1), 8011628 (1) (see all 61)
naphthol as-d chloroacetate	46.9	2	1754510 (1), 8703373 (1)
cpsa	41.8	1	10626683 (1)
fibrinogen	40.7	39	7519416 (2), 7695840 (2), 15526546 (2), 1724187 (2) (see all 22)
sialic acid	33.4	8	7627722 (3), 16868668 (2), 7532440 (1)
diisopropylfluorophosphate	30.3	1	8267879 (1)
rubin	29.2	2	9651334 (1), 1312083 (1)
chymostatin	25.4	2	8267879 (1), 7538844 (1)
vitamin a	20.9	25	11063444 (5), 12908896 (4), 19017312 (2), 11382660 (2) (see all 8)

Search CenterWatch for drugs/clinical trials and news about SERPINA3 / AACT

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for SERPINA3 gene:

NM_001085.4

Unigene Clusters for SERPINA3:

Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3

Hs.534293 [show with all ESTs], Hs.710488 [show with all ESTs]

Unigene Representative Sequences: AK093049, BC070265

10 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000553947(uc001ydo.4 uc001ydp.3 uc001ydr.3 uc021sbb.1)

ENST00000485588 ENST00000393080(uc001yds.3) ENST00000555820 ENST00000468897

ENST00000556388 ENST00000467132(uc010avf.1 uc010avg.3) ENST00000556968

ENST00000482740 ENST00000393078

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SERPINA3
		1 QIAGEN miScript miRNA Assays for microRNA that regulate SERPINA3:
		hsa-miR-137
		SwitchGear 3'UTR luciferase reporter plasmid: SERPINA3 3' UTR sequence

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		GenScript: all cDNA clones in your preferred vector: SERPINA3 (NM_001085)
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SERPINA3

Additional cDNA sequence: BC070265.1

24/50 DOTS entries (see all 50):

DT.100890356 DT.92463702 DT.454351 DT.95375744 DT.86859776 DT.100890333 DT.100838926 DT.100890311

DT.101984834 DT.100890324 DT.100890353 DT.100890313 DT.120779223 DT.95314377 DT.100890349 DT.120779182

DT.95202637 DT.97860878 DT.100890329 DT.100890334 DT.100890357 DT.95098550 DT.100890317 DT.100890325

24/1378 AceView cDNA sequences (see all 1378):

BX381347 AI436432 BM983724 BM982300 BX325188 BM662974 BX388046 BQ003276

BQ082928 AA345129 CR590750 BG533456 BM769554 AA344739 CR612671 T71602

CR600352 BM969226 BU195772 BU684422 AI826605 H26203 CA446072 BM694103

GeneLoc Exon Structure

5/13 Alternative Splicing Database (ASD) splice patterns (SP) for SERPINA3 (see all 13) About this scheme

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:							-		-				-																-

ECgene alternative splicing isoforms for SERPINA3

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

SERPINA3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GACTCTTCAG

About this image

SERPINA3 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

5 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Adipose

Visceral White Adipose

Adipose

Bone

Zeugopod Epiphyseal End

Bone

Brain

Neural Tube

Lumbar Vertebral Body

Somite

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 10/13 LifeMap Cells (see all 13)

Name

Category

PureStem™ mesenchymal Progenitor SK11 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ mesenchymal progenitor MEL2 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ mesenchymal progenitor 7SMOO32 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ mesenchymal progenitor 7PEND24 (Embryonic Progenitor Cell)

Cartilage, Neural Crest

PureStem™ mesenchymal progenitor 4D20.8 (Embryonic Progenitor Cell)

Lateral Plate Mesoderm, Neural Crest

PureStem™ progenitor Z1 (Embryonic Progenitor Cell)

HyStem+TGF?3+GDF5-induced MEL2 cells (HyStem+TGF?3+GDF5 in...)

Bone, Cartilage

HyStem+TGF?3+GDF5-induced 7PEND24 cells (HyStem+TGF?3+GDF5 in...)

Bone

TGF?3+BMP7-induced chondrocytes (Chondrogenic HyStem+...)

Bone, Cartilage

TGF?3+BMP7-induced chondrocytes (Chondrogenic HyStem+...)

See SERPINA3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SERPINA3

SOURCE GeneReport for Unigene clusters: Hs.534293 Hs.710488

UniProtKB/Swiss-Prot: AACT_HUMAN, P01011

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

SABiosciences Expression via Pathway-Focused PCR Arrays including SERPINA3:

Alzheimer's Disease in human mouse rat

Inflammatory Response & Autoimmunity 384HT in human mouse rat

Hepatotoxicity in human mouse rat

Molecular Toxicology PathwayFinder 384HT in human mouse rat

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SERPINA3

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SERPINA3

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for SERPINA3 gene from 6/18 species (see all 18) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Serpina3n^{1 , 5}	serine (or cysteine) peptidase inhibitor, clade A, more^{1, 5}	70.53(n)¹ 62.32(a)¹		12 (54.17 cM)⁵ 20716¹ NM_009252.2¹ NP_033278.2¹ 104406729⁵
zebrafish (Danio rerio)	Actinopterygii	zgc:174260⁶ serpina1⁶ (see all 8)	zgc:174260 serine (or cysteine) proteinase inhibitor, clade A... (see all 8)	36(a) 35(a) (see all 8)	many ↔ many many ↔ many (see all 8)	5(30450534-30456663) 20(10732283-10734497)
fruit fly (Drosophila melanogaster)	Insecta	Spn3⁶ Spn2⁶ (see all 26)	Serine protease inhibitor 2 (see all 26)	32(a) 30(a) (see all 26)	possible ortholog possible ortholog (see all 26)	2L(20836621-20838179) 2L(8240414-8241800)
worm (Caenorhabditis elegans)	Secernentea	srp-2⁶ srp-6⁶ (see all 6)	SeRPin family member (srp-6) (see all 6)	25(a) 25(a) (see all 6)	possible ortholog possible ortholog (see all 6)	V(762735-764658) V(7384214-7386288)
thale cress (Arabidopsis thaliana)	eudicotyledons	AT1G47710⁶ AT1G64010⁶ (see all 10)	serine protease inhibitor-like protein (see all 10)	24(a) 23(a) (see all 10)	many ↔ many many ↔ many (see all 10)	1(17558209-17560269) 1(23750884-23751441)
rice (Oryza sativa)	Liliopsida	-- -- (see all 16)	serpin domain containing protein, putative, expres... serpin domain containing protein, putative, expres... (see all 16)	26(a) 25(a) (see all 16)	many ↔ many many ↔ many (see all 16)	3(23053071-23066803) 1(32248927-32250581)

ENSEMBL Gene Tree for SERPINA3 (if available)
TreeFam Gene Tree for SERPINA3 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for SERPINA3 gene

SERPING1² SERPINA1² SERPINH1² SERPINA10² SERPINA11² SERPINA7² SERPINA12² SERPINA9²

SERPINA5² SERPINF1² SERPIND1² SERPINA4² SERPINA6² SERPINF2²

18/39 SIMAP similar genes for SERPINA3 using alignment to 4 protein entries: AACT_HUMAN (see all proteins) (see all similar genes):

SCCA1 SERPINA6 SERPINA1 SERPINA11 SERPINA9 AT3

SERPINA7 SERPINA5 SERPINA4 SERPINA12 DKFZp686D06190 AAT

SERPINI1 SERPINB1 SERPINB3 SERPINB11 SERPINA2P HMSD

SERPINA3 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for SERPINA3
PGOHUM00000261848

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 14 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs116929575^1,2	C,	pathogenic	76546580(+)	`TCTTCA/GTGAGC`	2	M V	mis¹		2		EA EU	1443
rs17473^1,2	C,F,H,	pathogenic	76551057(+)	`CTATAC/GCTTAC`	2	P A	mis¹		18		NA EA MN NS EU	7361
rs1800463^1,2	C	pathogenic	76555688(+)	`CCCACT/CGAGCA`	2	/P /L	mis¹		5		NA EA	256
rs78691614^1,2	F,	--	75257387(+)	`TCCTCG/ATAGAG`	1	--	us2k¹		1		NA	120
rs80072236^1,2	C,	--	75257647(+)	`ACTGT-/AACCAT`	1	--	us2k¹		0	--	--	--	--
rs10150491^1,2	C,H,	--	75257800(+)	`ccaagT/Cagctg`	1	--	us2k¹		5		NS EA WA	536
rs111397271^1,2	C,	--	75258610(+)	`TACTCA/GGGAGG`	1	--	us2k¹		0	--	--	--	--
rs58635531^1,2	C,	--	75258640(+)	`GAACCC/TGGGAG`	1	--	us2k¹		1		WA	2
rs111362351^1,2		--	75259088(+)	`AAATAG/AGCCTC`	1	--	us2k¹		1		CSA	2
rs111986691^1,2	C	--	75259168(+)	`GGCAGA/C/GTAATC`	1	--	spd¹		1		CSA	1

HapMap Linkage Disequilibrium report for SERPINA3 (95058395 - 95090983 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for SERPINA3: --
Human Gene Mutation Database (HGMD): SERPINA3

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

SERPINA3 for disorders           About GeneDecksing

OMIM gene information: 107280    OMIM disorders: --

20/134 diseases for SERPINA3 (see all 134):    About MalaCards

chronic obstructive pulmonary disease alpha-1-antichymotrypsin deficiency alpha 1-antitrypsin deficiency pulmonary disease

parkinson's disease acute febrile neutrophilic dermatosis alzheimer's disease liver disease

steroid-induced glaucoma rosai-dorfman disease cerebral amyloid angiopathy polymyalgia rheumatica

ceroid lipofuscinosis malignant fibrous histiocytoma neuronal ceroid-lipofuscinosis fibrous histiocytoma

10/93 Novoseek disease relationships for SERPINA3 gene (see all 93) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
alzheimers disease	74.1	191	1623174 (3), 9221977 (3), 9129962 (3), 7857652 (3) (see all 99)
senile plaques	72.4	49	8019922 (2), 8159260 (2), 1702930 (2), 7670501 (1) (see all 31)
response acute phase	71.6	8	2130541 (1), 9014651 (1), 9585727 (1), 15709178 (1) (see all 7)
malignant fibrous histiocytoma	65.8	9	8091802 (2), 1851349 (2), 8078801 (1), 14655155 (1) (see all 6)
benign prostatic hyperplasia	63.5	13	10609542 (2), 10351990 (1), 11920529 (1), 7694414 (1) (see all 10)
sporadic cerebral amyloid angiopathy	60.9	3	1688925 (1), 9667601 (1)
late onset alzheimer disease	59.6	2	9370085 (1), 7535791 (1)
alpha 1-antitrypsin deficiency	58.5	5	2332207 (1), 2327559 (1), 1871543 (1), 7912884 (1)
histiocytoma fibrous	57.9	1	2163249 (1)
prostate cancer	56.5	40	8653279 (3), 7512295 (3), 9492842 (2), 11455828 (2) (see all 25)

Genetic Association Database (GAD): SERPINA3
Human Genome Epidemiology (HuGE) Navigator: SERPINA3 (56 documents)

Export disorders for SERPINA3 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for SERPINA3 gene, integrated from 9 sources (see all 720):
(articles sorted by number of sources associating them with SERPINA3)

Utopia: connect your pdf to the dynamic
world of online information

Alpha-1-antichymotrypsin gene A1252G variant (ACT Isehara-1) is associated with a lacunar type of ischemic cerebrovascular disease. (PubMed id 11289720)^{1, 2, 4, 9} Tachikawa H.... Shinohara Y. (2001)
A leucine-to-proline substitution causes a defective alpha 1- antichymotrypsin allele associated with familial obstructive lung disease. (PubMed id 8244391)^{1, 2, 4, 9} Poller W.... Heidtmann H.-H. (1993)
Mis-sense mutation of alpha 1-antichymotrypsin gene associated with chronic lung disease. (PubMed id 1351206)^{1, 2, 4} Poller W.... Eriksson S. (1992)
Distribution of plasma alpha 1-antichymotrypsin levels in Alzheimer disease patients and controls and their genetic controls. (PubMed id 11959399)^{1, 4, 9} Wang X....Kamboh M.I. (2002)
Alpha-1-antichymotrypsin (ACT or SERPINA3) polymorphism may affect age-at-onset and disease duration of Alzheimer's disease. (PubMed id 16137793)^{1, 4, 9} Kamboh M.I....DeKosky S.T. (2006)
Molecular studies define the primary structure of alpha1- antichymotrypsin (ACT) protease inhibitor in Alzheimer's disease brains. Comparison of act in hippocampus and liver. (PubMed id 9880565)^{1, 2, 9} Hwang S.-R.... Hook V.Y.H. (1999)
Crystal structure of cleaved human alpha 1-antichymotrypsin at 2.7-A resolution and its comparison with other serpins. (PubMed id 2016749)^{1, 2, 9} Baumann U.... Laurell C.-B. (1991)
A new promoter polymorphism in the alpha-1-antichymotrypsin gene is a disease modifier of Alzheimer's disease. (PubMed id 15653173)^{1, 4, 9} Licastro F....Canal N. (2005)
The SANT2 domain of the murine tumor cell DnaJ-like protein 1 human homologue interacts with alpha1-antichymotrypsin and kinetically interferes with its serpin inhibitory activity. (PubMed id 14668352)^{1, 2, 9} Kroczynska B....Blond S.Y. (2004)
Apolipoprotein E, angiotensin-converting enzyme and alpha-1-antichymotrypsin genotypes are not associated with post-stroke dementia. (PubMed id 12736093)^{1, 4, 9} Arpa A....Bornstein B. (2003)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 12	HGNC: 16	AceView: SERPINA5andSERPINA3	Ensembl:ENSG00000196136	euGenes: HUgn12
ECgene: SERPINA3	H-InvDB: SERPINA3

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for SERPINA3	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for SERPINA3	Genetics and Cytogenetics in Oncology and Haematology
Wikipedia	http://en.wikipedia.org/wiki/Alpha_1-antichymotrypsin

Intellectual Property for SERPINA3 gene
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Patent Information for SERPINA3 gene:
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GeneCards and IP:
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Down Syndrome
Dementia
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