Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

UniProtKB - P01009 (A1AT_HUMAN)

Protein

Alpha-1-antitrypsin

Gene

SERPINA1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.
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).

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.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei382 – 383Reactive bond2

GO - Molecular functioni

  • identical protein binding Source: IntAct
  • protease binding Source: UniProtKB
  • serine-type endopeptidase inhibitor activity Source: MGI
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionProtease inhibitor, Serine protease inhibitor
Biological processAcute phase, Blood coagulation, Hemostasis

Enzyme and pathway databases

ReactomeiR-HSA-114608 Platelet degranulation
R-HSA-204005 COPII-mediated vesicle transport
R-HSA-381426 Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
R-HSA-5694530 Cargo concentration in the ER
R-HSA-6798695 Neutrophil degranulation
R-HSA-8957275 Post-translational protein phosphorylation
SIGNORiP01009

Protein family/group databases

MEROPSiI04.001

Names & Taxonomyi

Protein namesi
Recommended name:
Alpha-1-antitrypsin
Alternative name(s):
Alpha-1 protease inhibitor
Alpha-1-antiproteinase
Serpin A1
Cleaved into the following chain:
Short peptide from AAT
Short name:
SPAAT
Gene namesi
Name:SERPINA1
Synonyms:AAT, PI
ORF Names:PRO0684, PRO2209
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

EuPathDBiHostDB:ENSG00000197249.12
HGNCiHGNC:8941 SERPINA1
MIMi107400 gene
neXtProtiNX_P01009

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Endoplasmic reticulum, Extracellular matrix, Secreted

Pathology & Biotechi

Involvement in diseasei

Alpha-1-antitrypsin deficiency (A1ATD)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:613490

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi382M → V: Oxidation-resistant inhibitor of therapeutic importance. 1 Publication1

Organism-specific databases

DisGeNETi5265
GeneReviewsiSERPINA1
MalaCardsiSERPINA1
MIMi613490 phenotype
OpenTargetsiENSG00000197249
Orphaneti60 Alpha-1-antitrypsin deficiency
178396 Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
PharmGKBiPA35509

Chemistry databases

DrugBankiDB03345 Beta-Mercaptoethanol
DB05481 Recombinant alpha 1-antitrypsin

Polymorphism and mutation databases

BioMutaiSERPINA1
DMDMi1703025

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 241 PublicationAdd BLAST24
ChainiPRO_000003237725 – 418Alpha-1-antitrypsin1 PublicationAdd BLAST394
PeptideiPRO_0000364030375 – 418Short peptide from AATAdd BLAST44

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei38Phosphoserine; by FAM20C1 Publication1
Glycosylationi70N-linked (GlcNAc...) (complex) asparagine9 Publications1
Glycosylationi107N-linked (GlcNAc...) (complex) asparagine5 Publications1
Modified residuei256S-cysteinyl cysteine1
Glycosylationi271N-linked (GlcNAc...) (complex) asparagine9 Publications1
Modified residuei383PhosphoserineCombined sources1

Post-translational modificationi

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 determinant.11 Publications
Proteolytic processing may yield the truncated form that ranges from Asp-30 to Lys-418.

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

EPDiP01009
MaxQBiP01009
PaxDbiP01009
PeptideAtlasiP01009
PRIDEiP01009
ProteomicsDBi51300
51301 [P01009-2]
51302 [P01009-3]

2D gel databases

DOSAC-COBS-2DPAGEiP01009
OGPiP01009
REPRODUCTION-2DPAGEiIPI00553177
P01009
SWISS-2DPAGEiP01009
UCD-2DPAGEiP01009

PTM databases

CarbonylDBiP01009
GlyConnecti20
iPTMnetiP01009
PhosphoSitePlusiP01009
UniCarbKBiP01009

Miscellaneous databases

PMAP-CutDBiP01009

Expressioni

Tissue specificityi

Ubiquitous. Expressed in leukocytes and plasma.1 Publication

Gene expression databases

BgeeiENSG00000197249 Expressed in 207 organ(s), highest expression level in liver
ExpressionAtlasiP01009 baseline and differential
GenevisibleiP01009 HS

Organism-specific databases

HPAiCAB013211
CAB016648
CAB073396
HPA000927
HPA001292

Interactioni

Subunit structurei

The variants S and Z interact with CANX AND PDIA3.1 Publication

Binary interactionsi

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi111283, 45 interactors
CORUMiP01009
DIPiDIP-35493N
IntActiP01009, 22 interactors
MINTiP01009
STRINGi9606.ENSP00000348068

Structurei

Secondary structure

1418
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP01009
SMRiP01009
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP01009

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni368 – 392RCLAdd BLAST25

Domaini

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.

Sequence similaritiesi

Belongs to the serpin family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG2392 Eukaryota
COG4826 LUCA
GeneTreeiENSGT00760000118839
HOVERGENiHBG005957
InParanoidiP01009
KOiK03984
OMAiFFLPDEG
OrthoDBiEOG091G0ION
PhylomeDBiP01009
TreeFamiTF343201

Family and domain databases

InterProiView protein in InterPro
IPR023795 Serpin_CS
IPR023796 Serpin_dom
IPR000215 Serpin_fam
IPR036186 Serpin_sf
PANTHERiPTHR11461 PTHR11461, 1 hit
PfamiView protein in Pfam
PF00079 Serpin, 1 hit
SMARTiView protein in SMART
SM00093 SERPIN, 1 hit
SUPFAMiSSF56574 SSF56574, 1 hit
PROSITEiView protein in PROSITE
PS00284 SERPIN, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P01009-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MPSSVSWGIL LLAGLCCLVP VSLAEDPQGD AAQKTDTSHH DQDHPTFNKI 
        60         70         80         90        100
TPNLAEFAFS LYRQLAHQSN STNIFFSPVS IATAFAMLSL GTKADTHDEI 
       110        120        130        140        150
LEGLNFNLTE IPEAQIHEGF QELLRTLNQP DSQLQLTTGN GLFLSEGLKL 
       160        170        180        190        200
VDKFLEDVKK LYHSEAFTVN FGDTEEAKKQ INDYVEKGTQ GKIVDLVKEL 
       210        220        230        240        250
DRDTVFALVN YIFFKGKWER PFEVKDTEEE DFHVDQVTTV KVPMMKRLGM 
       260        270        280        290        300
FNIQHCKKLS SWVLLMKYLG NATAIFFLPD EGKLQHLENE LTHDIITKFL 
       310        320        330        340        350
ENEDRRSASL HLPKLSITGT YDLKSVLGQL GITKVFSNGA DLSGVTEEAP 
       360        370        380        390        400
LKLSKAVHKA VLTIDEKGTE AAGAMFLEAI PMSIPPEVKF NKPFVFLMIE 
       410 
QNTKSPLFMG KVVNPTQK
Length:418
Mass (Da):46,737
Last modified:October 1, 1996 - v3
Checksum:i7016555F273B7F16
GO
Isoform 2 (identifier: P01009-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     356-418: AVHKAVLTIDEKGTEAAGAMFLEAIPMSIPPEVKFNKPFVFLMIEQNTKSPLFMGKVVNPTQK → VRSP

Note: No experimental confirmation available.
Show »
Length:359
Mass (Da):40,263
Checksum:iD16A255538FB2945
GO
Isoform 3 (identifier: P01009-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     307-418: Missing.

Note: 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.
Show »
Length:306
Mass (Da):34,755
Checksum:i15C708E6C25CE0C4
GO

Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0B4J278A0A0B4J278_HUMAN
Alpha-1-antitrypsin
SERPINA1
144Annotation score:
G3V387G3V387_HUMAN
Alpha-1-antitrypsin
SERPINA1
117Annotation score:
G3V5R8G3V5R8_HUMAN
Alpha-1-antitrypsin
SERPINA1
92Annotation score:
G3V544G3V544_HUMAN
Alpha-1-antitrypsin
SERPINA1
156Annotation score:
A0A024R6I7A0A024R6I7_HUMAN
Alpha-1-antitrypsin
SERPINA1 hCG_2029168
418Annotation score:
A0A0G2JRN3A0A0G2JRN3_HUMAN
Alpha-1-antitrypsin
SERPINA1
359Annotation score:
G3V2B9G3V2B9_HUMAN
Alpha-1-antitrypsin
SERPINA1
105Annotation score:
G3V4I7G3V4I7_HUMAN
Alpha-1-antitrypsin
SERPINA1
22Annotation score:

Sequence cautioni

The sequence CAD62334 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence CAD62585 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti12Missing in AAA51546 (PubMed:2985281).Curated1
Sequence conflicti23L → P in BAG38005 (PubMed:14702039).Curated1
Sequence conflicti26D → H AA sequence (PubMed:1906855).Curated1
Sequence conflicti39H → L AA sequence (PubMed:1906855).Curated1
Sequence conflicti61L → P in AAF29581 (Ref. 8) Curated1
Sequence conflicti96T → A in ABG73380 (PubMed:17650587).Curated1
Sequence conflicti139 – 140GN → DG in AAB59375 (PubMed:6319097).Curated2
Sequence conflicti174T → H in AAA51546 (PubMed:2985281).Curated1
Sequence conflicti229E → D in AAA51546 (PubMed:2985281).Curated1
Sequence conflicti273T → N in AAB59375 (PubMed:6319097).Curated1
Sequence conflicti280D → G in ABG73380 (PubMed:17650587).Curated1
Sequence conflicti326V → I in CAA25838 (PubMed:6387509).Curated1
Sequence conflicti410G → L AA sequence (PubMed:1406456).Curated1
Sequence conflicti414N → S AA sequence (PubMed:1406456).Curated1

Polymorphismi

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%.1 Publication

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0069784S → L in Z-Wrexham. 1 Publication1
Natural variantiVAR_00697926D → A in V-Munich. 1 PublicationCorresponds to variant dbSNP:rs199422212EnsemblClinVar.1
Natural variantiVAR_05193837T → A. Corresponds to variant dbSNP:rs11558262Ensembl.1
Natural variantiVAR_00698058A → T in M5-Karlsruhe. 1 PublicationCorresponds to variant dbSNP:rs149319176Ensembl.1
Natural variantiVAR_00698163R → C in I. 1 PublicationCorresponds to variant dbSNP:rs28931570EnsemblClinVar.1
Natural variantiVAR_00698265L → P in M-Procida. 1 PublicationCorresponds to variant dbSNP:rs28931569EnsemblClinVar.1
Natural variantiVAR_00698369S → F in M6-Bonn. 1 PublicationCorresponds to variant dbSNP:rs199687431EnsemblClinVar.1
Natural variantiVAR_00698475Missing in M-Malton, M-Nichinan and M-Palermo; associated with very low serum levels of AAT; homozygosity for allele M-Malton may be associated with a risk for chronic emphysema or infantile liver cirrhosis. 4 Publications1
Natural variantiVAR_00698577S → F in S-Iiyama. 1 PublicationCorresponds to variant dbSNP:rs55819880EnsemblClinVar.1
Natural variantiVAR_00698684A → T in M6-Passau. 1 PublicationCorresponds to variant dbSNP:rs111850950EnsemblClinVar.1
Natural variantiVAR_00698791G → E in M-Mineral springs; causes reduced AAT secretion. 1 PublicationCorresponds to variant dbSNP:rs28931568EnsemblClinVar.1
Natural variantiVAR_00698892T → I in QO-Lisbon; deficient AAT with very low serum levels. Corresponds to variant dbSNP:rs1490133295Ensembl.1
Natural variantiVAR_011620109T → M in Z-Bristol; deficient AA; disrupts the N-glycosylation site N-107. 1 PublicationCorresponds to variant dbSNP:rs199422213EnsemblClinVar.1
Natural variantiVAR_006989112P → T in M5-Berlin. 1 PublicationCorresponds to variant dbSNP:rs886044322EnsemblClinVar.1
Natural variantiVAR_006990116I → N in QO-Ludwigshafen. 1 PublicationCorresponds to variant dbSNP:rs28931572EnsemblClinVar.1
Natural variantiVAR_006991125R → H in M2; associated with D-400. Corresponds to variant dbSNP:rs709932EnsemblClinVar.1
Natural variantiVAR_006992139G → S in QO-Newport. 1 PublicationCorresponds to variant dbSNP:rs11558261EnsemblClinVar.1
Natural variantiVAR_006993172G → R in V and M-Nichinan. 1 PublicationCorresponds to variant dbSNP:rs112030253EnsemblClinVar.1
Natural variantiVAR_006994172G → W in M2-Obernburg. 2 PublicationsCorresponds to variant dbSNP:rs112030253EnsemblClinVar.1
Natural variantiVAR_006995180Q → E in L-Frankfurt. 1 Publication1
Natural variantiVAR_036746190 – 198QGKIVDLVK → GFQNAILVR in Aberrant form. 9
Natural variantiVAR_006996228E → K in X. Corresponds to variant dbSNP:rs199422208EnsemblClinVar.1
Natural variantiVAR_006997237V → A in M1A and Z; associated with K-366 in Z. 4 PublicationsCorresponds to variant dbSNP:rs6647EnsemblClinVar.1
Natural variantiVAR_006998247R → C in F. 1 PublicationCorresponds to variant dbSNP:rs28929470EnsemblClinVar.1
Natural variantiVAR_006999280D → V in P-Duarte/P-Cardiff/P-Lowell; associated with H-415 in Y-Barcelona. 3 PublicationsCorresponds to variant dbSNP:rs121912714EnsemblClinVar.1
Natural variantiVAR_007000288E → V in S and T. 2 PublicationsCorresponds to variant dbSNP:rs17580EnsemblClinVar.1
Natural variantiVAR_009216305Missing in Basque. 1 Publication1
Natural variantiVAR_007001354S → F in S-Munich. 1 PublicationCorresponds to variant dbSNP:rs201788603EnsemblClinVar.1
Natural variantiVAR_007002360A → T in W-Bethesda. 1 PublicationCorresponds to variant dbSNP:rs1802959EnsemblClinVar.1
Natural variantiVAR_007003365D → N in P-St.Albans/P-Donauwoerth. 1 PublicationCorresponds to variant dbSNP:rs143370956EnsemblClinVar.1
Natural variantiVAR_007004366E → K in Z/Z-Augsburg/Z-Tun; associated with A-237 in Z. 3 PublicationsCorresponds to variant dbSNP:rs28929474EnsemblClinVar.1
Natural variantiVAR_007005382M → R in Pittsburgh; has antithrombin activity; inhibits factor VIIa activity; causes fatal bleeding diathesis. 3 PublicationsCorresponds to variant dbSNP:rs121912713EnsemblClinVar.1
Natural variantiVAR_007006386P → H in Sao Tome. 1 PublicationCorresponds to variant dbSNP:rs569384943Ensembl.1
Natural variantiVAR_007007386P → T in L-Offenbach. 1 PublicationCorresponds to variant dbSNP:rs12233Ensembl.1
Natural variantiVAR_007008387E → K in Christchurch. Corresponds to variant dbSNP:rs121912712EnsemblClinVar.1
Natural variantiVAR_007009393P → L in M-Heerlen. 1 PublicationCorresponds to variant dbSNP:rs199422209EnsemblClinVar.1
Natural variantiVAR_007010400E → D in M2 and M3; associated with H-125 in M2. 2 PublicationsCorresponds to variant dbSNP:rs1303EnsemblClinVar.1
Natural variantiVAR_007011415P → H in Y-Barcelona; associated with V-280. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_028890307 – 418Missing in isoform 3. 1 PublicationAdd BLAST112
Alternative sequenceiVSP_028889356 – 418AVHKA…NPTQK → VRSP in isoform 2. 1 PublicationAdd BLAST63

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
K01396 mRNA Translation: AAB59375.1
K02212 Genomic DNA Translation: AAB59495.1
X01683 mRNA Translation: CAA25838.1
M11465 mRNA Translation: AAA51546.1
J02619 Genomic DNA Translation: AAA51547.1
DQ682455 mRNA Translation: ABG73380.1
AM048838 Genomic DNA Translation: CAJ15161.1
AF113676 mRNA Translation: AAF29581.1
AF130068 mRNA Translation: AAG35496.1
BX161449 mRNA Translation: CAD61914.1
BX247968 mRNA Translation: CAD62306.1
BX248002 mRNA Translation: CAD62334.1 Different initiation.
BX248257 mRNA Translation: CAD62585.1 Different initiation.
AK315637 mRNA Translation: BAG38005.1
BT019455 mRNA Translation: AAV38262.1
BC011991 mRNA Translation: AAH11991.1
BC015642 mRNA Translation: AAH15642.1
J00064 Genomic DNA Translation: AAB59369.1
J00066, J00065 Genomic DNA Translation: AAB59370.1
J00067 Genomic DNA Translation: AAB59371.1
X02920 mRNA Translation: CAA26677.1
V00496 mRNA Translation: CAA23755.1
M26123 mRNA Translation: AAA51545.1
CCDSiCCDS9925.1 [P01009-1]
PIRiA21853 ITHU
A61391
RefSeqiNP_000286.3, NM_000295.4 [P01009-1]
NP_001002235.1, NM_001002235.2 [P01009-1]
NP_001002236.1, NM_001002236.2 [P01009-1]
NP_001121172.1, NM_001127700.1 [P01009-1]
NP_001121173.1, NM_001127701.1 [P01009-1]
NP_001121174.1, NM_001127702.1 [P01009-1]
NP_001121175.1, NM_001127703.1 [P01009-1]
NP_001121176.1, NM_001127704.1 [P01009-1]
NP_001121177.1, NM_001127705.1 [P01009-1]
NP_001121178.1, NM_001127706.1 [P01009-1]
NP_001121179.1, NM_001127707.1 [P01009-1]
XP_016876859.1, XM_017021370.1 [P01009-1]
UniGeneiHs.525557

Genome annotation databases

EnsembliENST00000355814; ENSP00000348068; ENSG00000197249 [P01009-1]
ENST00000393087; ENSP00000376802; ENSG00000197249 [P01009-1]
ENST00000393088; ENSP00000376803; ENSG00000197249 [P01009-1]
ENST00000402629; ENSP00000386094; ENSG00000197249 [P01009-2]
ENST00000404814; ENSP00000385960; ENSG00000197249 [P01009-1]
ENST00000437397; ENSP00000408474; ENSG00000197249 [P01009-1]
ENST00000440909; ENSP00000390299; ENSG00000197249 [P01009-1]
ENST00000448921; ENSP00000416066; ENSG00000197249 [P01009-1]
ENST00000449399; ENSP00000416354; ENSG00000197249 [P01009-1]
ENST00000489769; ENSP00000451525; ENSG00000197249 [P01009-3]
ENST00000636712; ENSP00000490054; ENSG00000197249 [P01009-1]
GeneIDi5265
KEGGihsa:5265
UCSCiuc001ycx.5 human [P01009-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

Wikipedia

Alpha-1 antitrypsin entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
K01396 mRNA Translation: AAB59375.1
K02212 Genomic DNA Translation: AAB59495.1
X01683 mRNA Translation: CAA25838.1
M11465 mRNA Translation: AAA51546.1
J02619 Genomic DNA Translation: AAA51547.1
DQ682455 mRNA Translation: ABG73380.1
AM048838 Genomic DNA Translation: CAJ15161.1
AF113676 mRNA Translation: AAF29581.1
AF130068 mRNA Translation: AAG35496.1
BX161449 mRNA Translation: CAD61914.1
BX247968 mRNA Translation: CAD62306.1
BX248002 mRNA Translation: CAD62334.1 Different initiation.
BX248257 mRNA Translation: CAD62585.1 Different initiation.
AK315637 mRNA Translation: BAG38005.1
BT019455 mRNA Translation: AAV38262.1
BC011991 mRNA Translation: AAH11991.1
BC015642 mRNA Translation: AAH15642.1
J00064 Genomic DNA Translation: AAB59369.1
J00066, J00065 Genomic DNA Translation: AAB59370.1
J00067 Genomic DNA Translation: AAB59371.1
X02920 mRNA Translation: CAA26677.1
V00496 mRNA Translation: CAA23755.1
M26123 mRNA Translation: AAA51545.1
CCDSiCCDS9925.1 [P01009-1]
PIRiA21853 ITHU
A61391
RefSeqiNP_000286.3, NM_000295.4 [P01009-1]
NP_001002235.1, NM_001002235.2 [P01009-1]
NP_001002236.1, NM_001002236.2 [P01009-1]
NP_001121172.1, NM_001127700.1 [P01009-1]
NP_001121173.1, NM_001127701.1 [P01009-1]
NP_001121174.1, NM_001127702.1 [P01009-1]
NP_001121175.1, NM_001127703.1 [P01009-1]
NP_001121176.1, NM_001127704.1 [P01009-1]
NP_001121177.1, NM_001127705.1 [P01009-1]
NP_001121178.1, NM_001127706.1 [P01009-1]
NP_001121179.1, NM_001127707.1 [P01009-1]
XP_016876859.1, XM_017021370.1 [P01009-1]
UniGeneiHs.525557

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1ATUX-ray2.70A45-418[»]
1D5SX-ray3.00A44-377[»]
B378-418[»]
1EZXX-ray2.60A48-382[»]
B383-418[»]
1HP7X-ray2.10A25-418[»]
1IZ2X-ray2.20A25-418[»]
1KCTX-ray3.46A25-418[»]
1OO8X-ray2.65A26-418[»]
1OPHX-ray2.30A26-418[»]
1PSIX-ray2.92A26-418[»]
1QLPX-ray2.00A26-418[»]
1QMBX-ray2.60A49-376[»]
B377-418[»]
2D26X-ray3.30A25-382[»]
B383-418[»]
2QUGX-ray2.00A25-418[»]
3CWLX-ray2.44A25-418[»]
3CWMX-ray2.51A25-418[»]
3DRMX-ray2.20A26-418[»]
3DRUX-ray3.20A/B/C26-418[»]
3NDDX-ray1.50A46-382[»]
B383-418[»]
3NDFX-ray2.70A46-382[»]
B383-418[»]
3NE4X-ray1.81A48-418[»]
3T1PX-ray3.90A48-418[»]
4PYWX-ray1.91A26-418[»]
5IO1X-ray3.34A/B29-418[»]
5NBUX-ray1.67A43-418[»]
5NBVX-ray1.73A43-418[»]
7APIX-ray3.00A36-382[»]
B383-418[»]
8APIX-ray3.10A36-382[»]
B383-418[»]
9APIX-ray3.00A36-382[»]
B383-418[»]
ProteinModelPortaliP01009
SMRiP01009
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111283, 45 interactors
CORUMiP01009
DIPiDIP-35493N
IntActiP01009, 22 interactors
MINTiP01009
STRINGi9606.ENSP00000348068

Chemistry databases

DrugBankiDB03345 Beta-Mercaptoethanol
DB05481 Recombinant alpha 1-antitrypsin

Protein family/group databases

MEROPSiI04.001

PTM databases

CarbonylDBiP01009
GlyConnecti20
iPTMnetiP01009
PhosphoSitePlusiP01009
UniCarbKBiP01009

Polymorphism and mutation databases

BioMutaiSERPINA1
DMDMi1703025

2D gel databases

DOSAC-COBS-2DPAGEiP01009
OGPiP01009
REPRODUCTION-2DPAGEiIPI00553177
P01009
SWISS-2DPAGEiP01009
UCD-2DPAGEiP01009

Proteomic databases

EPDiP01009
MaxQBiP01009
PaxDbiP01009
PeptideAtlasiP01009
PRIDEiP01009
ProteomicsDBi51300
51301 [P01009-2]
51302 [P01009-3]

Protocols and materials databases

DNASUi5265
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000355814; ENSP00000348068; ENSG00000197249 [P01009-1]
ENST00000393087; ENSP00000376802; ENSG00000197249 [P01009-1]
ENST00000393088; ENSP00000376803; ENSG00000197249 [P01009-1]
ENST00000402629; ENSP00000386094; ENSG00000197249 [P01009-2]
ENST00000404814; ENSP00000385960; ENSG00000197249 [P01009-1]
ENST00000437397; ENSP00000408474; ENSG00000197249 [P01009-1]
ENST00000440909; ENSP00000390299; ENSG00000197249 [P01009-1]
ENST00000448921; ENSP00000416066; ENSG00000197249 [P01009-1]
ENST00000449399; ENSP00000416354; ENSG00000197249 [P01009-1]
ENST00000489769; ENSP00000451525; ENSG00000197249 [P01009-3]
ENST00000636712; ENSP00000490054; ENSG00000197249 [P01009-1]
GeneIDi5265
KEGGihsa:5265
UCSCiuc001ycx.5 human [P01009-1]

Organism-specific databases

CTDi5265
DisGeNETi5265
EuPathDBiHostDB:ENSG00000197249.12
GeneCardsiSERPINA1
GeneReviewsiSERPINA1
HGNCiHGNC:8941 SERPINA1
HPAiCAB013211
CAB016648
CAB073396
HPA000927
HPA001292
MalaCardsiSERPINA1
MIMi107400 gene
613490 phenotype
neXtProtiNX_P01009
OpenTargetsiENSG00000197249
Orphaneti60 Alpha-1-antitrypsin deficiency
178396 Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
PharmGKBiPA35509
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2392 Eukaryota
COG4826 LUCA
GeneTreeiENSGT00760000118839
HOVERGENiHBG005957
InParanoidiP01009
KOiK03984
OMAiFFLPDEG
OrthoDBiEOG091G0ION
PhylomeDBiP01009
TreeFamiTF343201

Enzyme and pathway databases

ReactomeiR-HSA-114608 Platelet degranulation
R-HSA-204005 COPII-mediated vesicle transport
R-HSA-381426 Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
R-HSA-5694530 Cargo concentration in the ER
R-HSA-6798695 Neutrophil degranulation
R-HSA-8957275 Post-translational protein phosphorylation
SIGNORiP01009

Miscellaneous databases

ChiTaRSiSERPINA1 human
EvolutionaryTraceiP01009
GeneWikiiAlpha_1-antitrypsin
GenomeRNAii5265
PMAP-CutDBiP01009
PROiPR:P01009
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000197249 Expressed in 207 organ(s), highest expression level in liver
ExpressionAtlasiP01009 baseline and differential
GenevisibleiP01009 HS

Family and domain databases

InterProiView protein in InterPro
IPR023795 Serpin_CS
IPR023796 Serpin_dom
IPR000215 Serpin_fam
IPR036186 Serpin_sf
PANTHERiPTHR11461 PTHR11461, 1 hit
PfamiView protein in Pfam
PF00079 Serpin, 1 hit
SMARTiView protein in SMART
SM00093 SERPIN, 1 hit
SUPFAMiSSF56574 SSF56574, 1 hit
PROSITEiView protein in PROSITE
PS00284 SERPIN, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiA1AT_HUMAN
AccessioniPrimary (citable) accession number: P01009
Secondary accession number(s): A6PX14
, B2RDQ8, Q0PVP5, Q13672, Q53XB8, Q5U0M1, Q7M4R2, Q86U18, Q86U19, Q96BF9, Q96ES1, Q9P1P0, Q9UCE6, Q9UCM3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: October 1, 1996
Last modified: November 7, 2018
This is version 250 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again