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Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 1, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000295 Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $699.00 18

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RefSeq Version NM_000295.4, 189163524
Length 3220 bp
Structure linear
Update Date 21-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 1, mRNA.
Product alpha-1-antitrypsin precursor
Comment

Summary: 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].


Transcript Variant: This variant (1) encodes the same protein as the other ten variants of this gene.


Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by transcript alignments.

RefSeq NP_000286.3
CDS 262..1518
Misc Feature(1)100..102
Misc Feature(2)331..333
Misc Feature(3)331..333
Misc Feature(4)403..1506
Misc Feature(5)424..1497
Misc Feature(6)469..471
Misc Feature(7)580..582
Misc Feature(8)1027..1029
Misc Feature(9)1027..1029
Misc Feature(10)1072..1074
Misc Feature(11)order(1363..1395,1423..1440)
Misc Feature(12)1363..1437
Misc Feature(13)1381..1383
Misc Feature(14)1387..1389
Misc Feature(15)1405..1410
Exon (1)1..257
Gene:SERPINA1
Gene Synonym:A1A; A1AT; AAT; alpha1AT; PI; PI1; PRO2275
Exon (2)258..907
Gene:SERPINA1
Gene Synonym:A1A; A1AT; AAT; alpha1AT; PI; PI1; PRO2275
Exon (3)908..1178
Gene:SERPINA1
Gene Synonym:A1A; A1AT; AAT; alpha1AT; PI; PI1; PRO2275
Exon (4)1179..1326
Gene:SERPINA1
Gene Synonym:A1A; A1AT; AAT; alpha1AT; PI; PI1; PRO2275
Exon (5)1327..3220
Gene:SERPINA1
Gene Synonym:A1A; A1AT; AAT; alpha1AT; PI; PI1; PRO2275
Translation MPSSVSWGILLLAGLCCLVPVSLAEDPQGDAAQKTDTSHHDQDHPTFNKITPNLAEFAFS LYRQLAHQSNSTNIFFSPVSIATAFAMLSLGTKADTHDEILEGLNFNLTEIPEAQIHEGF QELLRTLNQPDSQLQLTTGNGLFLSEGLKLVDKFLEDVKKLYHSEAFTVNFGDTEEAKKQ INDYVEKGTQGKIVDLVKELDRDTVFALVNYIFFKGKWERPFEVKDTEEEDFHVDQVTTV KVPMMKRLGMFNIQHCKKLSSWVLLMKYLGNATAIFFLPDEGKLQHLENELTHDIITKFL ENEDRRSASLHLPKLSITGTYDLKSVLGQLGITKVFSNGADLSGVTEEAPLKLSKAVHKA VLTIDEKGTEAAGAMFLEAIPMSIPPEVKFNKPFVFLMIEQNTKSPLFMGKVVNPTQK
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Position Chain Variation Link
complement(39)-dbSNP:
complement(39)-t, cdbSNP:55967149
complement(54)-g, adbSNP:55973910
complement(72)-t, cdbSNP:180723265
complement(74)-t, cdbSNP:55961721
complement(162)-g, adbSNP:140228762
complement(164)-, gdbSNP:202122479
complement(252)-t, cdbSNP:11558258
complement(266)-g, adbSNP:142288916
complement(267)-t, cdbSNP:200936638
complement(278)-g, adbSNP:140814100
complement(288)-t, cdbSNP:11558260
complement(304)-g, adbSNP:147283849
complement(312)-g, adbSNP:143920236
338+a, cdbSNP:199422212
complement(341)-g, adbSNP:190231439
complement(344)-g, adbSNP:11558259
complement(370)-g, adbSNP:11558262
complement(376)-t, gdbSNP:138070585
complement(380)-t, cdbSNP:186478039
complement(432)-g, adbSNP:150784949
complement(433)-t, c, adbSNP:149319176
complement(448)-t, cdbSNP:28931570
complement(455)-t, cdbSNP:28931569
complement(462)-g, cdbSNP:140744031
complement(467)-g, adbSNP:199687431
complement(472)-c, adbSNP:11575873
complement(491)-t, cdbSNP:55819880
complement(505)-t, cdbSNP:113817720
complement(511)-t, cdbSNP:111850950
complement(533)-g, adbSNP:28931568
complement(546)-t, gdbSNP:199962756
complement(584)-c, adbSNP:137888162
587+c, tdbSNP:199422213
complement(608)-t, adbSNP:28931572
complement(627)-t, cdbSNP:199725228
635+a, gdbSNP:709932
complement(676)-g, adbSNP:11558261
complement(685)-t, cdbSNP:20546
complement(696)-c, adbSNP:11558263
complement(711)-t, cdbSNP:146596574
complement(727)-c, adbSNP:78640395
complement(758)-t, gdbSNP:142942004
complement(774)-g, adbSNP:190838132
complement(775)-t, c, adbSNP:112030253
complement(783)-t, cdbSNP:72552402
complement(784)-t, cdbSNP:149770048
complement(786)-t, cdbSNP:201400592
complement(807)-g, adbSNP:113813309
813+, cdbSNP:267606950
complement(813)-g, cdbSNP:199422210
complement(814)-t, cdbSNP:147247134
complement(834)-t, cdbSNP:200414579
complement(911)-dbSNP:
complement(911)-c, adbSNP:11558265
complement(920)-t, gdbSNP:11558257
complement(924)-t, cdbSNP:1140397
complement(934)-c, adbSNP:11558264
943+a, gdbSNP:199422208
complement(954)-t, gdbSNP:145410420
complement(971)-t, cdbSNP:6647
complement(978)-g, adbSNP:200634040
complement(979)-g, adbSNP:72552401
982+a, tdbSNP:199422211
1000+c, tdbSNP:28929470
complement(1029)-t, gdbSNP:8350
complement(1035)-t, cdbSNP:34112109
complement(1080)-t, cdbSNP:2230075
1100+a, tdbSNP:121912714
complement(1101)-t, cdbSNP:1049800
complement(1117)-g, adbSNP:149537225
1124+a, tdbSNP:17580
complement(1140)-t, gdbSNP:141095970
complement(1168)-t, gdbSNP:1802963
complement(1183)-dbSNP:
complement(1183)-c, adbSNP:141620200
complement(1185)-g, adbSNP:138611390
complement(1209..1210)-, gdbSNP:35624994
complement(1225)-c, adbSNP:55704149
complement(1227)-t, adbSNP:190881649
complement(1228)-g, adbSNP:150455534
complement(1230)-g, cdbSNP:186393785
complement(1234)-t, adbSNP:1802962
complement(1237)-t, cdbSNP:139964603
complement(1260)-g, adbSNP:181491831
complement(1264)-t, cdbSNP:190061930
complement(1276)-t, cdbSNP:62652285
complement(1277)-t, cdbSNP:186298255
complement(1282)-g, adbSNP:28929471
complement(1313)-, tdbSNP:72555374
complement(1322)-g, adbSNP:201788603
complement(1329)-dbSNP:
complement(1329)-t, cdbSNP:9630
complement(1332)-g, cdbSNP:10427
complement(1336)-t, cdbSNP:200945035
complement(1339)-g, adbSNP:1802959
complement(1342)-, gdbSNP:72555357
complement(1343)-t, cdbSNP:1131139
complement(1344)-g, adbSNP:13868
complement(1345)-c, adbSNP:1131154
complement(1347)-t, gdbSNP:1802961
complement(1350)-g, cdbSNP:1050469
complement(1351)-t, cdbSNP:201318727
complement(1354)-t, cdbSNP:143370956
complement(1356)-g, c, adbSNP:201774333
1357+a, gdbSNP:28929474
complement(1362)-g, adbSNP:1050520
complement(1378)-t, gdbSNP:12077
complement(1392)-t, adbSNP:28929473
complement(1395)-t, cdbSNP:148362959
complement(1406)-t, gdbSNP:121912713
complement(1417)-t, c, adbSNP:12233
complement(1419)-g, adbSNP:143329723
complement(1420)-g, adbSNP:121912712
complement(1438)-g, adbSNP:61761869
1439+c, tdbSNP:199422209
complement(1449)-t, cdbSNP:13170
complement(1456)-t, cdbSNP:139972630
complement(1461)-t, gdbSNP:1303
complement(1462)-t, gdbSNP:17850837
complement(1486)-t, cdbSNP:149800596
complement(1507)-c, adbSNP:3191200
complement(1511)-t, adbSNP:200467663
complement(1519)-t, cdbSNP:72547410
complement(1521)-t, gdbSNP:1802960
complement(1525)-t, cdbSNP:3191219
complement(1595)-t, adbSNP:111611589
complement(1596)-t, gdbSNP:113201712
complement(1598)-t, cdbSNP:1243163
complement(1700)-t, gdbSNP:138518740
complement(1742)-g, adbSNP:2073333
complement(1759)-g, cdbSNP:111978668
complement(1834)-t, gdbSNP:1243164
complement(1844)-t, cdbSNP:7144409
complement(1866)-g, adbSNP:112143645
complement(1976)-t, adbSNP:147041519
complement(1997)-t, cdbSNP:7142803
complement(1998)-t, cdbSNP:147905225
complement(1999)-g, adbSNP:1243165
complement(2018)-t, cdbSNP:111349695
complement(2084)-g, adbSNP:45538932
complement(2086)-t, cdbSNP:140980287
complement(2196)-g, adbSNP:151205402
complement(2211)-, gdbSNP:113934719
complement(2259)-g, adbSNP:142149216
complement(2307)-g, adbSNP:193052802
complement(2310)-g, adbSNP:139984116
complement(2371)-g, adbSNP:188391982
complement(2372)-t, cdbSNP:1051052
complement(2464)-g, adbSNP:184719827
complement(2466)-t, cdbSNP:192683802
complement(2486)-t, cdbSNP:1243166
complement(2537)-g, adbSNP:146502831
complement(2574)-g, adbSNP:143994738
complement(2585)-t, cdbSNP:11628917
complement(2659)-t, cdbSNP:139136785
complement(2739)-g, adbSNP:11832
complement(2805)-t, cdbSNP:9944155
complement(2810)-g, adbSNP:78367974
complement(2849)-g, c, adbSNP:11568814
complement(2864)-g, adbSNP:149278583
complement(2932)-t, cdbSNP:139506803
complement(3073)-g, adbSNP:56325294
complement(3085)-g, cdbSNP:79555504
complement(3134)-t, cdbSNP:187187152
complement(3167)-t, cdbSNP:182137190
Gene SymbolSERPINA1
Gene SynonymA1A; A1AT; AAT; alpha1AT; PI; PI1; PRO2275
Chromosome14
Locus Map14q32.1
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000295 Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 1, mRNA. On-demand $699.00 18
NM_001002235 Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 3, mRNA. On-demand $699.00 18
NM_001002236 Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 2, mRNA. On-demand $699.00 18
NM_001127700 Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 4, mRNA. On-demand $699.00 18
NM_001127701 Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 5, mRNA. On-demand $699.00 18
NM_001127702 Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 6, mRNA. On-demand $699.00 18
NM_001127703 Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 7, mRNA. On-demand $699.00 18
NM_001127704 Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 8, mRNA. On-demand $699.00 18
NM_001127705 Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 9, mRNA. On-demand $699.00 18
NM_001127706 Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 10, mRNA. On-demand $699.00 18
NM_001127707 Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 11, mRNA. On-demand $699.00 18
Title Diagnostic potential of urinary alpha1-antitrypsin and apolipoprotein E in the detection of bladder cancer .
Author Urquidi,V., Goodison,S., Ross,S., Chang,M., Dai,Y. and Rosser,C.J.
Journal J. Urol. 188 (6), 2377-2383 (2012)
Title Histone deacetylase inhibitor (HDACi) suberoylanilide hydroxamic acid (SAHA)-mediated correction of alpha1-antitrypsin deficiency .
Author Bouchecareilh,M., Hutt,D.M., Szajner,P., Flotte,T.R. and Balch,W.E.
Journal J. Biol. Chem. 287 (45), 38265-38278 (2012)
Title Differential subcellular targeting of recombinant human alpha(1)-proteinase inhibitor influences yield, biological activity and in planta stability of the protein in transgenic tomato plants .
Author Jha,S., Agarwal,S., Sanyal,I., Jain,G.K. and Amla,D.V.
Journal Plant Sci. 196, 53-66 (2012)
Title [Serum A1-antitrypsin levels in prostate pathology] .
Author Dokrunova,A.A. and Sokolova,O.S.
Journal Urologiia 5, 77-80 (2012)
Title SERPINA1 and ELA2 polymorphisms are not associated with COPD or lung cancer .
Author Enewold,L., Mechanic,L.E., Bowman,E.D., Platz,E.A. and Alberg,A.J.
Journal Anticancer Res. 32 (9), 3923-3928 (2012)
Title Alpha-1 antitrypsin response of stimulated alveolar macrophages .
Author Yuan,Z.A., Soprano,K.J. and Kueppers,F.
Journal J. Cell. Biochem. 49 (4), 410-416 (1992)
Title Isolation and serine protease inhibitory activity of the 44-residue, C-terminal fragment of alpha 1-antitrypsin from human placenta .
Author Niemann,M.A., Narkates,A.J. and Miller,E.J.
Journal Matrix 12 (3), 233-241 (1992)
Title Treatment of Haemophilus aphrophilus endocarditis with ciprofloxacin .
Author Dawson,S.J. and White,L.A.
Journal J. Infect. 24 (3), 317-320 (1992)
Title Platelet alpha2-macroglobulin and alpha1-antitrypsin .
Author Nachman,R.L. and Harpel,P.C.
Journal J. Biol. Chem. 251 (15), 4512-4521 (1976)
Title The interaction of alpha-1-antitrypsin with chymotrypsin, trypsin and elastase .
Author Cohen,A.B.
Journal Biochim. Biophys. Acta 391 (1), 193-200 (1975)


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