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SERPINA1 Gene

protein-coding GIFtS: 68

GC14M093914

serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
(Previous names: serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: PI)

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

Aliases
A1A ^¹, ²
A1AT ^²
AAT ^¹, ², ³, ⁵
Alpha-1-antiproteinase ^³
MGC23330 ^²
MGC9222 ^²
PI ^², ³, ⁵
PI1 ^¹, ²
PRO2275 ^²
alpha-1-antitrypsin ^¹

Descriptions
Alpha-1 protease inhibitor ^³
protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin ^²
serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 ^¹
serine (or cysteine) proteinase inhibitor, clade A, member 1 ^²
serine proteinase inhibitor, clade A, member 1 ^²
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 ^²

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

Search outside databases for aliases for SERPINA1 gene

Previous GC identifers: GC14M092351 GC14M088661 GC14M092834

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

EntrezGene 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]

UniProtKB/Swiss-Prot: A1AT_HUMAN, P01009

Function: Short peptide from AAT (SPAAT) is a reversible chymotrypsin inhibitor. It also inhibits

elastase, but not trypsin

Gene Wiki entry for SERPINA1 (Alpha_1-antitrypsin)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the SERPINA1 gene

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)

GeneLoc gene densities for chromosome 14 GeneLoc Exon Structure

GeneLoc location for GC14M093914: (about GC identifiers)

Start:	93,914,451 bp from pter
End:	93,926,782 bp from pter
Size:	12,332 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000014.7 NT_026437.11

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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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

PDB structures from and Proteopedia :

1ATU (3D)

1D5S (3D)

1EZX (3D)

1HP7 (3D)

1IZ2 (3D)

1KCT (3D)

1OO8 (3D)

1OPH (3D)

1PSI (3D)

1QLP (3D)

1QMB (3D)

2D26 (3D)

2QUG (3D)

3CWL (3D)

3CWM (3D)

3DRM (3D)

3DRU (3D)

7API (3D)

8API (3D)

9API (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

Post-translational modifications:

Several isomers are observed, resulting from the combination of different N-linked glycan

structures and mature N-terminus. N-linked glycan at Asn-107 is alternatively di-antennary,

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

tri-antennary, and glycan at Asn-271 is exclusively di-antennary. The structure of the antennas 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 antennas are fucosylated,

which forms a Lewis-X determinant¹

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

View phosphorylation sites using PhosphoSite²

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:

ENSP00000376803 ENSP00000376802 ENSP00000385960 ENSP00000386094 ENSP00000348068

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Sigma-Aldrich Proteins for SERPINA1
	R&D Systems Recombinant & Natural Proteins for SERPINA1 (Serpin A1/alpha 1-Antitrypsin)
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (alpha 1 Antitrypsin)
	Human Recombinant Proteins from Abnova (SERPINA1)

OriGene Purified Recombinant Human Protein: SERPINA1

5/6 Gene Ontology (GO) cellular component terms (links to tree view) (see all 6 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	NAS	14718574
GO:0005578	proteinaceous extracellular matrix	IEA	--
GO:0005615	extracellular space	IMP	16192646
GO:0005634	nucleus	IDA	18029348
GO:0005730	nucleolus	IDA	18029348

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Antibodies for SERPINA1:

	Invitrogen Antibodies for SERPINA1
	Millipore Mono- and Polyclonal Antibodies for the study of SERPINA1
	Sigma-Aldrich Antibodies for SERPINA1
	R&D Systems Antibodies for SERPINA1 (Serpin A1/alpha 1-Antitrypsin)
	Antibodies from Abcam (alpha 1 Antitrypsin), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (SERPINA1)
	Novus Biologicals Antibodies for SERPINA1

Assays for SERPINA1:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

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

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 MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (SERPINA1)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 11): NM_001127700

Applied Biosystems Silencer® siRNAs for SERPINA1

Sigma-Aldrich siRNA and siRNA Panels for SERPINA1

Sigma-Aldrich shRNA for SERPINA1

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for SERPINA1
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 11): NM_000295
Myc/DDK tagged cDNA clones in CMV expression vector (see all 11): NM_000295
untagged cDNA clones in CMV expression vector (see all 13): AF119873

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_001127705

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 (SPAAT) is a reversible chymotrypsin inhibitor. It also inhibits

elastase, but not trypsin

4 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0002020	protease binding	IPI	15853774
GO:0004867	serine-type endopeptidase inhibitor activity	NAS	12878203
GO:0005515	protein binding	IPI	12878203 15845869 16192646
GO:0008233	peptidase activity	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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2 Sigma-Aldrich "Your Favorite Gene" Pathways for SERPINA1 (Your Favorite Gene powered by Ingenuity)

Coagulation System
Acute Phase Response Signaling

GeneDecks SERPINA1 for the pathways selected above

About GeneDecksing

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

5/61 Interacting proteins for SERPINA1 (ENSP00000348068³ P01009^{1, 2}) via UniProtKB, MINT, and/or STRING (see all 61 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CANX	P27824²	STRING (score=.757) MINT-4546773
- - (xeno)	P00760¹	EBI-986224, EBI-986385
ELA1 ELA1 (xeno)	P00772¹	EBI-986224, EBI-986248
SSR1	P43307²	MINT-4546668 MINT-4545288 MINT-4546686 MINT-4546656
ELANE	ENSP00000263621³	STRING (score=.997)

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2 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006953	acute-phase response	IEA	--
GO:0007596	blood coagulation	IEA	--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for SERPINA1
10/29 Novoseek chemical compound relationships for SERPINA1 gene (see all 29 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
pimm	90.92	11	2127999 (2), 18426570 (2), 18515255 (1), 2379100 (1) (see all 7)
hocl	55.16	11	8031117 (2), 7507456 (1), 14534155 (1), 1654816 (1) (see all 8)
desmosine	50.12	10	17494786 (2), 11112116 (2), 12689849 (1)
lithocholic acid	27.52	19	9514645 (4), 7794524 (4)
fibrinogen	21.91	21	19333202 (3), 15526546 (2), 8063228 (2), 14658049 (2) (see all 10)
onoo	19.26	2	9070285 (1), 9422817 (1)
peroxynitrite	16.68	5	8694578 (3), 9422817 (1), 8889493 (1)
methionine	8.62	6	8405571 (1), 2229014 (1), 7820538 (1), 10713080 (1) (see all 5)
polyacrylamide	2.25	2	1628601 (1), 8666412 (1)
glucose	1.89	5	1673374 (2), 19046232 (1), 16870258 (1), 10748653 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (SERPINA1)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 11): NM_001127700

Sigma-Aldrich siRNA and siRNA Panels for SERPINA1

Sigma-Aldrich shRNA for SERPINA1

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000295 NM_001002235 NM_001002236 NM_001127700 NM_001127701 NM_001127702 NM_001127703 NM_001127704

NM_001127705 NM_001127706 NM_001127707

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

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000295 NM_001002235 NM_001002236 NM_001127700 NM_001127701 NM_001127702 NM_001127703 NM_001127704

NM_001127705 NM_001127706 NM_001127707

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 11): NM_000295
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 11): NM_000295
                                 untagged cDNA clones in CMV expression vector (see all 13): AF119873

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 CR590437.1 CR591499.1 CR592138.1 CR592520.1 CR592634.1

CR592812.1 CR594071.1 CR594926.1 CR596052.1 CR596840.1 CR597045.1 CR597876.1 CR598299.1

CR598607.1 CR599435.1 CR600354.1 CR601127.1 CR601468.1 CR602463.1 CR602969.1 CR604514.1

CR606920.1 CR611921.1 CR613171.1 CR613538.1 CR618299.1 CR618885.1 CR619433.1 CR621385.1

CR621386.1 CR621562.1 CR623210.1 CR625038.1 CR625360.1 CR626145.1 DQ682455.1 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.100758171

DT.91828786 DT.120777117 DT.120777127 DT.87014068 DT.91778523 DT.95274171 DT.100695564 DT.95274225

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

CR626145 AU076921 AI174955 AA345206 CR621386 AI032826 CA435800 BG563537

AA345833 AV645548 T67746 CB121437 N45442 N63714 AV647107 CR598607

BX464246 BX248002 CR618299 BQ649915 CB137798 AV682037 CR621385 CR604514

highest scoring ESTs for SERPINA1:

AA137148 AA150291 AA294876 AA295612 AA300311 AA300894 AA302938 AA304762 AA305143 AA305819

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

GeneLoc Exon Structure

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

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:

About this scheme

ECgene alternative splicing isoforms for SERPINA1

5 Ensembl transcripts including schematic representations:

ENST00000393088 ENST00000393087 ENST00000404814 ENST00000402629 ENST00000355814

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

SERPINA1 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for SERPINA1

¹ / ² / ³

7 probe-sets matching SERPINA1 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
36781_at²^{, 3}	U95-A	1	1.00	1.00	1.00	1.00	X01683	0.80	1.00	0.91	1
202833_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_000295	0.60	1.00	0.82	1
211429_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AF119873	0.20	1.00	0.72	1
230318_at²^{, 3}	U133-B	2	0.91	0.91	--	--	T62088	0.60	1.00	0.82	1
202833_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
211429_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
230318_at²	U133Plus2	2	0.91	0.91	--	--	--	--	--	--	--

GeneDecks SERPINA1 for binary patterns associated with the probe-sets selected above

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: GGAAAAGTGG

SOURCE GeneReport for Unigene cluster: Hs.525557
Expression variation in blood from EXPOLDB for SERPINA1
UniProtKB/Swiss-Prot: A1AT_HUMAN, P01009
Tissue specificity: Plasma

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for SERPINA1 gene from 5/10 species (see all 10 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	SERPINA1¹	--	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, more	80.38(n) 75.36(a)	480422 XM_537543.2 XP_537543.2
chimpanzee (Pan troglodytes)	SERPINA1¹	--	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, more	99.28(n) 99.28(a)	467541 XM_522938.2 XP_522938.2
cow (Bos taurus)	SERPINA1¹	--	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, more	78.23(n) 69.16(a)	280699 NM_173882.1 NP_776307.1
rat (Rattus norvegicus)	Serpina1¹	--	serine (or cysteine) proteinase inhibitor, clade A more	75.51(n) 70.32(a)	24648 NM_022519.2 NP_071964.2
mouse (Mus musculus)	Serpina1c¹	--	serine (or cysteine) peptidase inhibitor, clade A, more	74.03(n) 65.53(a)	20702 NM_009245.2 NP_033271.1

About this table Species with no ortholog for SERPINA1

ENSEMBL Gene Tree for SERPINA1

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

Paralogs for SERPINA1 gene

SERPINA5² SERPINA3² SERPINA2²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
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%

10/187 NCBI SNPs in SERPINA1 are shown (see all 187 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 132)

AB	SNP ID	Valid	Chr 14 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs1303^1,2	A,C,F,H,O	93914596(+)	`TTTTGT/GTCAAT`	11	D/E	mis¹		22	MN EA NA EU WA	3300
	rs2402445^1,2	A,C,F,H,O	93928458(+)	`CTAGGC/TGGACT`	2	--	ng3¹		7	EU EA WA NA	560
	rs1570141^1,2	A,C,F,H,O	93926390(-)	`CCCAGC/TGCTGG`	3	--	int¹ ng3¹		6	MN EU EA WA NA	667
	rs709932^1,2	A,C,F,H,O	93918954(-)	`CCTCCG/ATACCC`	11	H/R	mis¹ ese³		22	NA EA MN EU WA	1759
	rs11832^1,2	A,C,F,H,O	93913318(-)	`GTCCTG/ATGGAA`	11	--	ut3¹		13	MN NA EU EA WA	1326
	rs1243166^1,2	A,C,F,H	93913571(-)	`CCTCCT/CCTGAG`	11	--	ut3¹		9	MN EU EA WA	962
	rs1243163^1,2	A,C,F,H	93914459(-)	`GGTCCC/TTGCCT`	11	--	ut3¹ ese³		9	MN EU EA WA	1008
	rs1570142^1,2	A,C,F,H	93926015(-)	`catacA/Cgtcac`	3	--	int¹ ng3¹ tfbs³		4	EU EA WA	418
	rs1243164^1,2	C,F,H,O	93914223(-)	`GTCTTG/TGAGTC`	11	--	ut3¹		13	MN NA EU EA WA	1225
	rs7155188^1,2	A,C,F,H	93928671(+)	`CATTTG/TTTCAC`	2	--	ng3¹		7	EU EA WA NA	556

About this table

HapMap Linkage Disequilibrium images for SERPINA1 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 107400

UniProtKB/Swiss-Prot: A1AT_HUMAN, P01009

The major physiological function of AAT is the protection of the lower respiratory tract

against proteolytic destruction by human leukocyte elastase (HLE). A hereditary deficiency of AAT,

is associated with a 20-30 fold increased risk of developing chronic obstructive pulmonary disease

Deficiency of the normal inhibitor in individuals homozygous for allele Z or M-Malton can

result in the development of chronic emphysema or infantile liver cirrhosis

Variant Pittsburgh is the cause of bleeding diathesis

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

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
alpha 1-antitrypsin deficiency	89.00	2	1760450 (1), 7912884 (1)
emphysema panacinar	80.61	3	15497795 (1), 17136953 (1), 9447774 (1)
pulmonary emphysema	80.12	22	1395384 (1), 12853554 (1), 2117166 (1), 1504439 (1) (see all 17)
lung diseases	68.10	62	17654345 (3), 7606551 (2), 7923455 (2), 18250185 (2) (see all 36)
liver diseases	64.26	59	7606551 (3), 9169667 (3), 10935704 (3), 17204961 (2) (see all 36)
pulmonary disease chronic obstructive	61.72	27	1980238 (1), 14594626 (1), 15823189 (1), 17389752 (1) (see all 26)
genetic disorder	60.31	24	14594626 (1), 14616761 (1), 16312203 (1), 17389752 (1) (see all 23)
response acute phase	55.72	9	10588615 (2), 11199152 (1), 9434101 (1), 19010440 (1) (see all 5)
panniculitis	55.07	16	15389208 (3), 9039946 (3), 16327507 (2), 16088434 (1) (see all 5)
cirrhosis	50.47	19	1307214 (3), 10836296 (2), 9169667 (2), 10735609 (1) (see all 10)

About this table

GeneTests: SERPINA1

Alpha1-Antitrypsin Deficiency

Human Gene Mutation Database: SERPINA1
Genetic Association Database: SERPINA1
Human Genome Epidemiology Navigator: SERPINA1 (73 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

10/649 PubMed articles for SERPINA1 gene (see all 649 ):

Molecular basis of alpha 1-antitrypsin deficiency and emphysema associated with the alpha 1-antitrypsin M-Mineral springs allele. (PubMed id 1967187)^{3, 4, 6} Curiel D.T.... Crystal R.G. (1990)
[Genetic predisposition to development of toxic liver cirrhosis caused by alcohol] (PubMed id 11436564)^{1, 3, 6} Spitsyn V.A....Afanas'eva I.S. (2001)
[Complex search for antiprotease-protease enzyme gene polymorphisms in patients with chronic obstructive pulmonary diseases] (PubMed id 15612581)^{1, 3, 6} 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, 3, 6} 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, 3, 6} 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, 3, 6} 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, 3, 6} 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, 3, 6} Sansom M.E....Chapel H.M. (2002)
Isolation and serine protease inhibitory activity of the 44-residue, C-terminal fragment of alpha 1-antitrypsin from human placenta. (PubMed id 1406456)^{1, 3, 4} Niemann M.A.... Miller E.J. (1992)
An alpha-1 antitrypsin genetic variant from India. (PubMed id 17650587)^{3, 4} Shasany A.K.... Khanuja S.P. (2007)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 5265	HGNC: 8941	AceView: SERPINA1andSERPINA2	Ensembl:ENSG00000197249	euGenes: HUgn5265
ECgene: SERPINA1	H-InvDB: SERPINA1

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
GeneReviews	http://www.genetests.org/query?gene=SERPINA1
Wikipedia	http://en.wikipedia.org/wiki/Alpha_1-antitrypsin

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SERPINA1 Gene

protein-coding GIFtS: 68

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

SERPINA1 Gene

protein-coding GIFtS: 68

Aliases & Descriptionsfor SERPINA1

Summariesfor SERPINA1

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for SERPINA1

Summaries
for SERPINA1

Genomic Location
for SERPINA1

Proteins
for SERPINA1

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Families
for SERPINA1

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for SERPINA1

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