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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SERPINA1 Gene

protein-coding GIFtS: 72
GCID: GC14M094843

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

(Previous names: serine (or cysteine) proteinase inhibitor, clade A (alpha-1...)
(Previous symbol: PI)

Explore 158 diseases affiliated with
SERPINA1 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 1¹ ²		Serpin A1² ³
AAT¹ ² ³ ⁵		Serine (Or Cysteine) Proteinase Inhibitor, Clade A (Alpha-1 Antiproteinase, Antitrypsin), Member 1¹
PI¹ ² ³ ⁵		PRO2275²
A1A¹ ²		Alpha-1-Antiproteinase¹
A1AT¹ ²		Alpha-1-Antitrypsin Null²
PI1¹ ²		Protease Inhibitor 1 (Anti-Elastase), Alpha-1-Antitrypsin²
Alpha-1-Antitrypsin¹		Serine (Or Cysteine) Proteinase Inhibitor, Clade A, Member 1²
Alpha1AT¹		Alpha-1-Antiproteinase¹
Alpha-1 Protease Inhibitor² ³

External Ids:	HGNC: 8941¹	Entrez Gene: 5265²	Ensembl: ENSG00000197249⁷	OMIM: 107400⁵	UniProtKB: P01009³

Export aliases for SERPINA1 gene to outside databases

Previous GC identifers: GC14M092351 GC14M088661 GC14M092834 GC14M093914 GC14M075022

(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 SERPINA1:

The protein encoded by this gene is secreted and is a serine protease inhibitor whose targets include elastase,

plasmin, thrombin, trypsin, chymotrypsin, and plasminogen activator. Defects in this gene can cause emphysema or liver

disease. Several transcript variants encoding the same protein have been found for this gene. (provided by RefSeq, Jul

2008)

UniProtKB/Swiss-Prot: A1AT_HUMAN, P01009

Function: Inhibitor of serine proteases. Its primary target is elastase, but it also has a moderate affinity for

plasmin and thrombin. Irreversibly inhibits trypsin, chymotrypsin and plasminogen activator. The aberrant form

inhibits insulin-induced NO synthesis in platelets, decreases coagulation time and has proteolytic activity against

insulin and plasmin

Function: Short peptide from AAT: reversible chymotrypsin inhibitor. It also inhibits elastase, but not trypsin. Its

major physiological function is the protection of the lower respiratory tract against proteolytic destruction by human

leukocyte elastase (HLE)

Gene Wiki entry for SERPINA1 (Alpha 1-antitrypsin)

(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 SERPINA1 gene promoter:
TBP AP-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): SERPINA1 promoter sequence

Search SABiosciences Chromatin IP Primers for SERPINA1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SERPINA1

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

SERPINA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SERPINA1 gene location

GeneLoc information about chromosome 14 GeneLoc Exon Structure

GeneLoc location for GC14M094843: view genomic region (about GC identifiers)

Start:	94,843,084 bp from pter	End:	94,857,030 bp from pter
Size:	13,947 bases	Orientation:	minus 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: A1AT_HUMAN, P01009 (See protein sequence)

Recommended Name: Alpha-1-antitrypsin precursor

Size: 418 amino acids; 46737 Da

Subcellular location: Secreted

Subcellular location: Short peptide from AAT: Secreted, extracellular space, extracellular matrix

Miscellaneous: The aberrant form is found in the plasma of chronic smokers, and persists after smoking is ceased. It

can still be found ten years after smoking has ceased

Sequence caution: Sequence=CAD62334.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

Sequence=CAD62585.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

6/24 PDB 3D structures from and Proteopedia for SERPINA1 (see all 24):

1ATU (3D)

1D5S (3D)

1EZX (3D)

1HP7 (3D)

1IZ2 (3D)

1KCT (3D)

Secondary accessions: A6PX14 B2RDQ8 Q0PVP5 Q13672 Q53XB8 Q5U0M1 Q7M4R2 Q86U18 Q86U19 Q96BF9 Q96ES1

Q9P1P0 Q9UCE6 Q9UCM3

Alternative splicing: 3 isoforms: P01009-1 P01009-2 P01009-3 (No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for SERPINA1: NX_P01009

Post-translational modifications:

N-glycosylated. Differential glycosylation produces a number of isoforms. N-linked glycan at Asn-107 is alternatively

di-antennary, tri-antennary or tetra-antennary. The glycan at Asn-70 is di-antennary with trace amounts of

tri-antennary. Glycan at Asn-271 is exclusively di-antennary. Structure of glycans at Asn-70 and Asn-271 is

Hex5HexNAc4. The structure of the antennae is Neu5Ac(alpha1-6)Gal(beta1-4)GlcNAc attached to the core structure

Man(alpha1-6)[Man(alpha1-3)]Man(beta1-4)GlcNAc(beta1-4)GlcNAc. Some antennae are fucosylated, which forms a Lewis-X

determinant¹

Proteolytic processing may yield the truncated form that ranges from Asp-30 to Lys-418¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P01009

SERPINA1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (11 alternative transcripts):

NP_000286.3 NP_001002235.1 NP_001002236.1 NP_001121172.1 NP_001121173.1 NP_001121174.1 NP_001121175.1 NP_001121176.1

NP_001121177.1 NP_001121178.1 NP_001121179.1

ENSEMBL proteins:

ENSP00000390299 ENSP00000376802 ENSP00000451525 ENSP00000376803 ENSP00000385960

ENSP00000416354 ENSP00000386094 ENSP00000450561 ENSP00000452169 ENSP00000452452

ENSP00000451098 ENSP00000452480 ENSP00000451826 ENSP00000416066 ENSP00000408474

ENSP00000348068

Reactome Protein details: P01009
Human Recombinant Protein Products:

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	Novus Biologicals SERPINA1 Proteins Novus Biologicals SERPINA1 Lysates
	Browse Sino Biological Recombinant Proteins
	ProSpec Recombinant Protein for SERPINA1
	Uscn Proteins for SERPINA1

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	TAS	--
GO:0005578	proteinaceous extracellular matrix	IEA	--
GO:0005615	extracellular space	IMP	16192646
GO:0031093	platelet alpha granule lumen	TAS	--

SERPINA1 for ontologies About GeneDecksing

SERPINA1 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of SERPINA1
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	OriGene Antibodies (see all 9): SERPINA1 OriGene Custom Antibody Services for SERPINA1
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	Novus Biologicals SERPINA1 Antibodies
	Abcam antibodies for SERPINA1
	Uscn Antibodies for SERPINA1
	ThermoFisher Antibodies for SERPINA1

Assay Products for SERPINA1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	R&D Systems ELISAs for SERPINA1 (Serpin A1/alpha 1-Antitrypsin)
	GenScript Custom Assay Services for SERPINA1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for SERPINA1

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

SERPINA1 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 P01009

ProtoNet protein and cluster: P01009

1 Blocks protein family: IPB000215 Serpin

UniProtKB/Swiss-Prot: A1AT_HUMAN, P01009

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: A1AT_HUMAN, P01009

Function: Inhibitor of serine proteases. Its primary target is elastase, but it also has a moderate affinity for

plasmin and thrombin. Irreversibly inhibits trypsin, chymotrypsin and plasminogen activator. The aberrant form

inhibits insulin-induced NO synthesis in platelets, decreases coagulation time and has proteolytic activity against

insulin and plasmin

Function: Short peptide from AAT: reversible chymotrypsin inhibitor. It also inhibits elastase, but not trypsin. Its

major physiological function is the protection of the lower respiratory tract against proteolytic destruction by human

leukocyte elastase (HLE)

miRNA Products:		OriGene 3'-UTR Clone (see all 11): SERPINA1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SERPINA1
		Search QIAGEN for miScript miRNA Assays for microRNAs that regulate SERPINA1
		Browse SwitchGear 3'UTR luciferase reporter plasmids

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Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for SERPINA1

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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for SERPINA1
		Search LifeMap BioReagents cell lines for SERPINA1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SERPINA1

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0002020	protease binding	IPI	15853774
GO:0004866	endopeptidase inhibitor activity	--	--
GO:0004867	serine-type endopeptidase inhibitor activity	NAS	12878203
GO:0005515	protein binding	IPI	16321984

SERPINA1 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for SERPINA1:

Decreased influenza A/WSN/33 r

(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 - 5/6 super-pathways (see all 6) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Platelet degranulation

Platelet degranulation

1.00

Response to elevated platelet cytosolic Ca2+

0.94

Complement and coagulation cascades

Complement and coagulation cascades

1.00

Complement and Coagulation Cascades

0.72

Platelet activation, signaling and aggregation

Platelet activation, signaling and aggregation

1.00

Hemostasis

0.43

Selected targets of HNF1

Selected targets of HNF1

1.00

Selected targets of C/EBPbeta

Selected targets of C/EBPbeta

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

2 EMD Millipore Pathways for SERPINA1

	Selected targets of C/EBPbeta
	Selected targets of HNF1

2 BioSystems Pathways for SERPINA1

	Complement and Coagulation Cascades
	FOXA1 transcription factor network

4 Reactome Pathways for SERPINA1

	Hemostasis
	Platelet degranulation
	Platelet activation, signaling and aggregation
	Response to elevated platelet cytosolic Ca2+

1 Kegg Pathway (Kegg details for SERPINA1):

Complement and coagulation cascades

SERPINA1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for SERPINA1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/80 Interacting proteins for SERPINA1 (P01009^{1, 2, 3} ENSP00000348068⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 80)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SSR1	P43307²^,³, ENSP00000244763⁴	MINT-4546668 MINT-4545288 MINT-4546686 MINT-4546656 I2D: score=1 STRING: ENSP00000244763
CANX	P27824²^,³, ENSP00000247461⁴	MINT-4546773 I2D: score=1 STRING: ENSP00000247461
SERPINA1	P01009²	MINT-8297755 MINT-8298239 MINT-8297773
LRP1	Q07954³, ENSP00000243077⁴	I2D: score=3 STRING: ENSP00000243077
ADAMTS4	O75173³, ENSP00000356975⁴	I2D: score=2 STRING: ENSP00000356975

About this table

Gene Ontology (GO): 5/16 biological process terms (GO ID links to tree view) (see all 16): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001666	response to hypoxia	IEA	--
GO:0002576	platelet degranulation	TAS	--
GO:0006953	acute-phase response	IEA	--
GO:0006954	inflammatory response	--	--
GO:0007596	blood coagulation	TAS	--

SERPINA1 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

SERPINA1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for SERPINA1

2 DrugBank Compounds for SERPINA1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
2-[3,4-Dihydroxy-2-Hydroxymethyl-5-(2-Hydroxy-Nonyl)-Tetrahydro-Furan-2-Yloxy]-6-Hydroxymethyl-Tetra Hydro-Pyran-3,4,5-Triol	--	--	target	--	17139284 17016423
Beta-Mercaptoethanol	--	60-24-2	target	--	17139284 17016423

10/46 Novoseek chemical compound relationships for SERPINA1 gene (see all 46) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
pimm	91.2	11	2127999 (2), 18426570 (2), 18515255 (1), 2379100 (1) (see all 7)
serine	62.7	79	17869162 (2), 1406456 (2), 11260148 (2), 17558676 (2) (see all 61)
hocl	53.4	11	8031117 (2), 7507456 (1), 14534155 (1), 1654816 (1) (see all 8)
desmosine	48.5	10	17494786 (2), 11112116 (2), 12689849 (1)
ergothioneine	48	2	9070285 (1), 1654816 (1)
meclofenamic acid	43.8	1	7811298 (1)
flufenamic acid	38.5	2	8694578 (1), 7811298 (1)
phenylbutazone	32.4	4	7811298 (2), 8694578 (1), 8660395 (1)
alpha lipoic acid	31	1	8566234 (1)
lithocholic acid	25.3	19	9514645 (4), 7794524 (4)

Search CenterWatch for drugs/clinical trials and news about SERPINA1 / A1AT

(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 SERPINA1 gene (11 alternative transcripts):

NM_000295.4 NM_001002235.2 NM_001002236.2 NM_001127700.1 NM_001127701.1 NM_001127702.1 NM_001127703.1 NM_001127704.1

NM_001127705.1 NM_001127706.1 NM_001127707.1

Unigene Cluster for SERPINA1:

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

Hs.525557 [show with all ESTs]

Unigene Representative Sequence: NM_001127701

18/19 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):

ENST00000440909(uc001ycw.4) ENST00000393087 ENST00000489769 ENST00000393088

ENST00000404814 ENST00000449399 ENST00000402629(uc001yda.1) ENST00000554720

ENST00000556091 ENST00000557492 ENST00000556955 ENST00000553327 ENST00000557118

ENST00000555289 ENST00000557361 ENST00000557093 ENST00000448921(uc010auw.3 uc001ycy.4 uc010auy.3 uc010ava.3 uc001ydb.4)

ENST00000437397(uc001ycx.4 uc010auz.3 uc010avb.3 uc001ydc.4)

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SERPINA1

Additional cDNA sequence:

AF119873.1 AK026174.1 AK315637.1 BC011991.1 BC015642.2 BC070163.1 BT019455.1 BX161449.1

BX247968.1 BX248002.1 BX248257.1 DQ682455.1 FJ830375.1 GU727620.1 K01396.1 M11465.1

M26123.1 V00496.1 X01683.1 X02920.1 X05826.1 X05827.1 X06096.1 X17122.1

24/80 DOTS entries (see all 80):

DT.420945 DT.91778566 DT.100042691 DT.86993492 DT.95231782 DT.97763767 DT.100695560 DT.100695567

DT.87017461 DT.75109828 DT.91778567 DT.101987983 DT.100855828 DT.92013454 DT.100695563 DT.91828786

DT.100758171 DT.120777117 DT.91778523 DT.120777127 DT.87014068 DT.95274171 DT.100695564 DT.95274225

24/2376 AceView cDNA sequences (see all 2376):

BE892912 CB124817 H48794 AA345315 CR621562 T61634 BM850650 T39910

AV652356 BQ064738 N63714 CR626145 BM845758 AA343335 AI174955 BX495010

CR598299 CR592812 H56022 CB146636 CR619433 AV649370 H97756 AV658559

GeneLoc Exon Structure

5/17 Alternative Splicing Database (ASD) splice patterns (SP) for SERPINA1 (see all 17) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	·	1e	·	1f	·	1g	^	2	^	3a	·	3b	^	4a	·	4b	·	4c	^	5	^	6a	·	6b	·	6c	·	6d	·	6e	·	6f	^	7a	·	7b	·	7c	^	8a	·	8b	^	9a	·
SP1:																											-
SP2:																											-										-		-		-		-		-		-		-		-
SP3:													-		-				-		-						-
SP4:															-				-		-						-
SP5:													-		-						-						-

ExUns:	9b	^	10a	·	10b	·	10c	^	11	^	12a	·	12b
SP1:							-
SP2:	-						-
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for SERPINA1

(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

SERPINA1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GGAAAAGTGG

About this image

SERPINA1 expression in embryonic tissues and stem cells

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

7 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Liver

Hindgut Endoderm Cells

Endoderm

Gut Tube

Midgut

Midgut Endoderm Cells

Endoderm

Gut Tube

Gut Tube

Kidney

Liver

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 7 LifeMap Cells

Name

Category

Hepatocyte-like cells (Generation of hepato...)

Hepatocyte-like cells (Functional hepatocyt...)

Immature hepatocytes (Functional, immature...)

GABA neuron-like cells (Generation of motor ...)

Brain

Immature hepatocyte-like cells (Generation of hepato...)

Endoderm progenitor-like cells (Generation and expan...)

Hepatocyte-like cells (Mouse embryonic stem...)

See SERPINA1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SERPINA1

SOURCE GeneReport for Unigene cluster: Hs.525557

UniProtKB/Swiss-Prot: A1AT_HUMAN, P01009

Tissue specificity: Plasma

SABiosciences Expression via Pathway-Focused PCR Arrays including SERPINA1:

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Embryonic Stem Cells in human mouse rat

Inflammatory Response & Autoimmunity 384HT in human mouse rat

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(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 SERPINA1 gene from 7/21 species (see all 21) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	SERPINA5¹	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, more	56.57(n) 46.8(a)		423435 XM_421344.1 XP_421344.1
African clawed frog (Xenopus laevis)	Amphibia	LOC397792²	alpha-1-antiproteinase	72.62(n)		AB014091.1
zebrafish (Danio rerio)	Actinopterygii	serpina1l¹	serine (or cysteine) proteinase inhibitor, clade A more	54.34(n) 42.55(a)		321195 NM_001013259.3 NP_001013277.3
fruit fly (Drosophila melanogaster)	Insecta	Spn6⁶ Spn42Db⁶ (see all 26)	Serpin 42Db (see all 26)	29(a) 28(a) (see all 26)	possible ortholog possible ortholog (see all 26)	2R(14013810-14015715) 2R(2766787-2768275)
worm (Caenorhabditis elegans)	Secernentea	srp-1³	serine protease inhibitor	28(a)		V(753188-754813) --
thale cress (Arabidopsis thaliana)	eudicotyledons	ATSRP3⁶ AT2G25240⁶ (see all 10)	serpin-Z10 (see all 10)	23(a) 22(a) (see all 10)	many ↔ many many ↔ many (see all 10)	1(23752873-23754348) 2(10751768-10753134)
rice (Oryza sativa)	Liliopsida	-- -- (see all 16)	serpin domain containing protein, putative (see all 16)	24(a) 23(a) (see all 16)	many ↔ many many ↔ many (see all 16)	3(23053071-23066803) 11(6512219-6513571)

ENSEMBL Gene Tree for SERPINA1 (if available)
TreeFam Gene Tree for SERPINA1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for SERPINA1 gene

SERPING1² SERPINH1² SERPINA10² SERPINA11² SERPINA7² SERPINA12² SERPINA9² SERPINA5²

SERPINF1² SERPIND1² SERPINA4² SERPINA3² SERPINA6² SERPINF2²

18/35 SIMAP similar genes for SERPINA1 using alignment to 6 protein entries: A1AT_HUMAN (see all proteins) (see all similar genes):

AAT PLANH2 SERPINA2P SCCA1 SERPINA12 SERPINA3

SERPINA9 SERPINA11 SERPINA7 SERPINA4 SERPINA6 SERPINB6

SERPINI2 SERPINB8 SERPINA5 SERPINB3 SERPINB4 HMSD

SERPINA1 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for SERPINA1
PGOHUM00000258748

(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)
About This Section

UniProtKB/Swiss-Prot: A1AT_HUMAN, P01009

Polymorphism: The sequence shown is that of the M1V allele which is the most common form of PI (44 to 49%). Other

frequent alleles are: M1A 20 to 23%; M2 10 to 11%; M3 14 to 19%

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
				--	--	--		--	--
rs121912713^1,2	C	pathogenic	76792616(-)	`ACCCAG/TGTCTA`	22	R M	mis¹		0	--	--	--	--
rs6647^1,2	C,F,A,H,	pathogenic	94847415(-)	`CCAGGT/CGACCA`	22	/A /V	mis¹		45		MN NA NS EA WA CSA EU	10395
rs199422212^1,2	C	other	76788014(-)	`TGAGGA/CTCCCC`	22	D A	mis¹		0	--	--	--	--
rs28931569^1,2	C	other	76788131(-)	`CCAGCT/CGGCAC`	22	/P /L	mis¹ ese³		3		NA	4556
rs55819880^1,2	C	other	76788167(-)	`CTTCTA/C/G/T CCCAG`	44	Y S C F	mis¹		0	--	--	--	--
rs199422213^1,2	C	other	76788263(-)	`CCTCAC/TGGAGA`	22	T M	mis¹		0	--	--	--	--
rs709932^1,2	C,F,O,A,H,	other	76788311(-)	`CCTCCA/GTACCC`	22	H R	mis¹ ese³		47		NA EA MN NS EU	10920
rs11558261^1,2	C,F	other	76788352(-)	`CCACCG/AGCAAT`	22	/S /G	mis¹		7		MN NA	412
rs199422208^1,2	C	other	76790071(-)	`ACACCA/GAGGAA`	22	K E	mis¹		0	--	--	--	--
rs199422211^1,2	C	other	76790110(-)	`CCGTGA/TAGGTG`	22	K *	stg¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for SERPINA1 (94843084 - 94857030 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for SERPINA1
1 CNV: 35281
Human Gene Mutation Database (HGMD): SERPINA1

Locus Specific Mutation Databases (LSDB): SERPINA1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SERPINA1

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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

SERPINA1 for disorders           About GeneDecksing

OMIM gene information: 107400
OMIM disorders: 613490  606963
UniProtKB/Swiss-Prot: A1AT_HUMAN, P01009

Defects in SERPINA1 are the cause of alpha-1-antitrypsin deficiency (A1ATD) [MIM:613490]. A disorder whose

most common manifestation is emphysema, which becomes evident by the third to fourth decade. A less common

manifestation of the deficiency is liver disease, which occurs in children and adults, and may result in cirrhosis and

liver failure. Environmental factors, particularly cigarette smoking, greatly increase the risk of emphysema at an

earlier age

20/158 diseases for SERPINA1 (see all 158): About MalaCards

hemorrhagic diathesis due to antithrombin pittsburgh emphysema-cirrhosis, due to aat deficiency alpha 1-antitrypsin deficiency emphysema

alpha-1-antichymotrypsin deficiency protein-losing enteropathy liver disease emphysema-cirrhosis

emphysema due to aat deficiency malignant fibrous histiocytoma fibrous histiocytoma hypersensitivity reaction type ii disease

mycobacterium abscessus pleuropulmonary blastoma congenital disorder of glycosylation type i wegener's granulomatosis

plasmodium falciparum malaria common variable immunodeficiency cluster headache boutonneuse fever

8 diseases from the University of Copenhagen DISEASES database for SERPINA1:

Alpha 1-antitrypsin deficiency Chronic obstructive pulmonary disease Liver disease Cystic fibrosis

protein-losing enteropathy Bronchitis Panniculitis Acute pancreatitis

10/95 Novoseek disease relationships for SERPINA1 gene (see all 95) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
alpha 1-antitrypsin deficiency	89.2	2	1760450 (1), 7912884 (1)
pulmonary emphysema	80.6	24	1395384 (1), 12853554 (1), 2117166 (1), 1504439 (1) (see all 19)
emphysema panacinar	79.8	3	15497795 (1), 17136953 (1), 9447774 (1)
lung diseases	69.9	79	17654345 (3), 7606551 (2), 7923455 (2), 18250185 (2) (see all 43)
liver diseases	67.6	80	7606551 (3), 9169667 (3), 10935704 (3), 17204961 (2) (see all 46)
genetic disorder	63	31	14594626 (1), 14616761 (1), 16312203 (1), 17389752 (1) (see all 29)
pulmonary disease chronic obstructive	61.5	31	1980238 (1), 14594626 (1), 15823189 (1), 17389752 (1) (see all 29)
panniculitis	56.3	20	15389208 (3), 9039946 (3), 19218787 (3), 16327507 (2) (see all 6)
response acute phase	54.3	9	10588615 (2), 11199152 (1), 9434101 (1), 19010440 (1) (see all 5)
cirrhosis	50.1	22	1307214 (3), 10836296 (2), 9169667 (2), 10735609 (1) (see all 12)

GeneTests: SERPINA1

Alpha1-Antitrypsin Deficiency

Genetic Association Database (GAD): SERPINA1
Human Genome Epidemiology (HuGE) Navigator: SERPINA1 (105 documents)

Export disorders for SERPINA1 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)
About This Section

PubMed articles for SERPINA1 gene, integrated from 9 sources (see all 823):
(articles sorted by number of sources associating them with SERPINA1)

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

Molecular basis of alpha 1-antitrypsin deficiency and emphysema associated with the alpha 1-antitrypsin M-Mineral springs allele. (PubMed id 1967187)^{1, 2, 4} Curiel D.T.... Crystal R.G. (1990)
[Genetic predisposition to development of toxic liver cirrhosis caused by alcohol] (PubMed id 11436564)^{1, 4, 9} Spitsyn V.A....Afanas'eva I.S. (2001)
Isolation and serine protease inhibitory activity of the 44-residue, C-terminal fragment of alpha 1-antitrypsin from human placenta. (PubMed id 1406456)^{1, 2, 9} Niemann M.A.... Miller E.J. (1992)
An alpha-1 antitrypsin genetic variant from India. (PubMed id 17650587)^{1, 2, 9} Shasany A.K.... Khanuja S.P. (2007)
[Complex search for antiprotease-protease enzyme gene polymorphisms in patients with chronic obstructive pulmonary diseases] (PubMed id 15612581)^{1, 4, 9} Ianbaeva D.G....Viktorova T.V. (2004)
Alpha1-antitrypsin as a risk for infant and adult respiratory outcomes in a national birth cohort. (PubMed id 15271689)^{1, 4, 9} Wadsworth M.E....Swallow D.M. (2004)
Genetic diversity of serum proteins in three subpopulations of the Maria Gond tribe of Madhya Pradesh, India. (PubMed id 14523999)^{1, 4, 9} Das K....Mastana S.S. (2003)
Genetic diversity of the alpha-1-antitrypsin gene in Africans identified using a novel genotyping assay. (PubMed id 12815594)^{1, 4, 9} Hayes V.M. (2003)
Analysis of the two common alpha-1-antitrypsin deficiency alleles PiMS and PiMZ as modifiers of Pseudomonas aeruginosa susceptibility in cystic fibrosis. (PubMed id 12372062)^{1, 4, 9} Meyer P....Roscher A.A. (2002)
A preliminary assessment of alpha-1 antitrypsin S and Z deficiency allele frequencies in common variable immunodeficiency patients with and without bronchiectasis. (PubMed id 12452840)^{1, 4, 9} Sansom M.E....Chapel H.M. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 5265	HGNC: 8941	AceView: SERPINA1andSERPINA2	Ensembl:ENSG00000197249	euGenes: HUgn5265
ECgene: SERPINA1	Kegg: 5265	H-InvDB: SERPINA1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for SERPINA1	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SERPINA1
Wikipedia	http://en.wikipedia.org/wiki/Alpha_1-antitrypsin

Intellectual Property for SERPINA1 gene
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Patent Information for SERPINA1 gene:
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GeneCards and IP:
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SERPINA1 Gene

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

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Spondylitis Ankylosing
Bronchiectasis
Pulmonary Emphysema
Genetic Susceptibility
Hepatitis Chronic
Acute myocardial infarction
Cystic Fibrosis
Colitis Ulcerative
Angioedema
ADENOCARCINOMA LUNG
malignant fibrous histiocytoma
Meningitis Viral
Liver diseases
Breast Cancer
Panniculitis
Cholestasis
Asthma
AIDS
Adenocarcinoma
Nephrotic Syndrome
Fat Necrosis
disability
cell damage
Obstruction
Cancer
Respiratory failure
Colorectal Carcinoma
Eye Diseases
Aneurysm
Carcinoma Acinar Cell
Infestation
Lymphoma
Pathological Processes
GASTRIC CARCINOMA
RENAL DISEASE
Pancreatitis
Nephropathy IGA
Liver Failure
Colorectal Cancer
Inflammation
Tuberculosis
Hepatitis
Hyperglycemia
Psoriasis
Hepatitis B
Pulmonary Disease Chronic Obstructive
LIVER DAMAGE
Chronic respiratory disease
Rheumatoid Arthritis
Pneumonia
Tumors
Metastasis
Liver Cirrhosis
Hepatic Failure Fulminant
Necrosis
SMOKING HABIT
Viral hepatitis
virus infection
Hepatitis C
Gastric Cancer
Cirrhosis
Sarcoma Rous
Melanoma
Emphysema panacinar
Vasculitis
inflammatory joint disease
alpha 1-Antitrypsin Deficiency
Intracranial Aneurysm
Infectious disease
Diabetes Mellitus
Airway Obstruction
Subarachnoid Hemorrhage
HEPATOCELLULAR CARCINOMA
Bronchitis Chronic
Pancreatic Cancer
Cancer Lung
chronic pancreatitis
Inflammatory Bowel Diseases
Aneurysm Ruptured
Respiratory Tract Infections
Diverticulitis
Response Acute Phase
Bleeding
Lung diseases
SKIN LESION
Hepatitis C Chronic
associated conditions
Hemochromatosis
Wegeners Granulomatosis
Cerebral Ischemia
Alpha1-Antitrypsin Deficiency
Respiratory Distress Syndrome Adult
chronic liver disease
genetic disorder
Fibromyalgia
Renal Failure Chronic

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SERPINA1 Gene

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