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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 10-MAY-2014
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)424..1497
Misc Feature(4)469..471
Misc Feature(5)580..582
Misc Feature(6)1027..1029
Misc Feature(7)1027..1029
Misc Feature(8)1072..1074
Misc Feature(9)order(1363..1395,1423..1440)
Misc Feature(10)1363..1437
Misc Feature(11)1381..1383
Misc Feature(12)1387..1389
Misc Feature(13)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(161)-g, adbSNP:369574904
complement(162)-g, adbSNP:140228762
complement(164)-, gdbSNP:202122479
complement(252)-t, cdbSNP:11558258
complement(258)-dbSNP:
complement(258)-t, cdbSNP:374417614
complement(266)-g, adbSNP:142288916
complement(267)-t, cdbSNP:200936638
complement(278)-g, adbSNP:140814100
complement(282)-c, adbSNP:370038282
288+c, tdbSNP:11558260
complement(295)-t, gdbSNP:377747242
complement(304)-g, adbSNP:147283849
complement(312)-g, adbSNP:143920236
338+a, cdbSNP:199422212
complement(341)-g, adbSNP:190231439
344+a, gdbSNP:11558259
370+a, gdbSNP:11558262
complement(376)-t, gdbSNP:138070585
complement(380)-t, cdbSNP:186478039
complement(381)-g, adbSNP:368917367
complement(421)-g, adbSNP:374810982
complement(432)-g, adbSNP:150784949
complement(433)-t, c, adbSNP:149319176
448+c, tdbSNP:28931570
455+c, tdbSNP:28931569
complement(462)-g, cdbSNP:140744031
complement(467)-g, adbSNP:199687431
472+a, cdbSNP:11575873
complement(485)-g, adbSNP:369966794
491+c, tdbSNP:55819880
complement(505)-t, cdbSNP:113817720
complement(511)-t, cdbSNP:111850950
533+a, gdbSNP:28931568
complement(546)-t, gdbSNP:199962756
complement(547)-t, cdbSNP:376616935
complement(584)-c, adbSNP:137888162
587+c, tdbSNP:199422213
608+a, tdbSNP:28931572
complement(627)-t, cdbSNP:199725228
complement(635)-t, cdbSNP:386607395
complement(642)-g, adbSNP:372438611
676+a, gdbSNP:11558261
complement(684)-g, adbSNP:368415110
685+c, tdbSNP:20546
complement(691)-g, adbSNP:374198121
696+a, cdbSNP:11558263
complement(708)-t, cdbSNP:373851357
complement(711)-t, cdbSNP:146596574
complement(718)-t, cdbSNP:369060615
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
813+c, gdbSNP:199422210
complement(814)-t, cdbSNP:147247134
complement(834)-t, cdbSNP:200414579
complement(848)-g, adbSNP:368433503
910+dbSNP:
910+a, tdbSNP:387906573
911+a, cdbSNP:11558265
920+g, tdbSNP:11558257
complement(923)-t, gdbSNP:368117781
924+c, tdbSNP:1140397
934+a, cdbSNP:11558264
943+a, gdbSNP:199422208
complement(954)-t, gdbSNP:145410420
complement(961)-t, cdbSNP:374168370
complement(978)-g, adbSNP:200634040
979+a, gdbSNP:72552401
982+a, tdbSNP:199422211
1029+g, tdbSNP:8350
complement(1032)-c, adbSNP:376294932
complement(1035)-t, cdbSNP:34112109
complement(1080)-t, cdbSNP:2230075
1101+c, tdbSNP:1049800
complement(1105)-t, cdbSNP:370923940
complement(1117)-g, adbSNP:149537225
1124+a, tdbSNP:17580
complement(1140)-t, gdbSNP:141095970
complement(1166)-t, adbSNP:377668175
1168+g, tdbSNP: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(1233)-t, cdbSNP:375097829
1234+a, tdbSNP:1802962
complement(1237)-t, cdbSNP:139964603
complement(1244)-g, cdbSNP:369788393
complement(1260)-g, adbSNP:181491831
complement(1264)-t, cdbSNP:190061930
complement(1275)-g, adbSNP:371761828
complement(1277)-t, cdbSNP:186298255
1282+a, gdbSNP:28929471
complement(1291)-t, cdbSNP:367797069
complement(1306)-g, cdbSNP:376024688
complement(1309)-g, adbSNP:377739083
1313+, tdbSNP:72555374
complement(1322)-g, adbSNP:201788603
complement(1329)-dbSNP:
complement(1329)-t, cdbSNP:9630
complement(1330)-t, cdbSNP:373630097
1332+c, gdbSNP:10427
complement(1336)-t, cdbSNP:200945035
1339+a, gdbSNP:1802959
1342+, gdbSNP:72555357
1343+c, tdbSNP:1131139
1344+a, gdbSNP:13868
1345+a, cdbSNP:1131154
1347+a, g, tdbSNP:1802961
1350+c, gdbSNP:1050469
complement(1351)-t, cdbSNP:201318727
complement(1354)-t, cdbSNP:143370956
complement(1356)-g, c, adbSNP:201774333
1357+a, gdbSNP:28929474
1362+a, gdbSNP:1050520
1378+g, tdbSNP:12077
complement(1380)-t, cdbSNP:376061125
1392+a, tdbSNP:28929473
complement(1395)-t, cdbSNP:148362959
1406+g, tdbSNP:121912713
complement(1407)-t, cdbSNP:372140596
1417+a, c, tdbSNP:12233
complement(1419)-g, adbSNP:143329723
1420+a, gdbSNP:121912712
complement(1438)-g, adbSNP:61761869
1439+c, tdbSNP:199422209
1449+c, tdbSNP:13170
complement(1456)-t, cdbSNP:139972630
complement(1461)-t, gdbSNP:1303
complement(1462)-t, gdbSNP:17850837
complement(1486)-t, cdbSNP:149800596
1507+a, cdbSNP:3191200
complement(1511)-t, adbSNP:200467663
1519+c, tdbSNP:72547410
1521+g, tdbSNP:1802960
1525+c, tdbSNP:3191219
complement(1536)-t, cdbSNP:371674306
complement(1552)-g, adbSNP:368409403
complement(1595)-t, adbSNP:111611589
complement(1596)-t, gdbSNP:113201712
complement(1598)-t, cdbSNP:1243163
complement(1694)-g, adbSNP:375619801
complement(1700)-t, gdbSNP:138518740
1742+a, gdbSNP: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(2171)-g, adbSNP:370477090
complement(2174)-g, adbSNP:370359507
complement(2196)-g, adbSNP:151205402
complement(2210)-, gdbSNP:113934719
2259+a, gdbSNP:142149216
complement(2307)-g, adbSNP:193052802
complement(2310)-g, adbSNP:139984116
complement(2371)-g, adbSNP:188391982
2372+c, tdbSNP:1051052
complement(2464)-g, adbSNP:184719827
complement(2466)-t, cdbSNP:192683802
2486+c, tdbSNP:1243166
2537+a, gdbSNP:146502831
complement(2565)-g, adbSNP:376326793
2574+a, gdbSNP:143994738
complement(2585)-t, cdbSNP:11628917
2659+c, tdbSNP:139136785
complement(2712)-t, gdbSNP:377711852
2739+a, gdbSNP:11832
complement(2805)-t, cdbSNP:9944155
complement(2810)-g, adbSNP:78367974
2849+a, c, gdbSNP:11568814
complement(2862)-t, cdbSNP:372207184
complement(2864)-g, adbSNP:149278583
2932+c, tdbSNP:139506803
complement(2958)-t, gdbSNP:369233057
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_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_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_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_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_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_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_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_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_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_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_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 Interactions between SERPINA1 PiMZ genotype, occupational exposure and lung function decline .
Author Mehta AJ, Thun GA, Imboden M, Ferrarotti I, Keidel D, Kunzli N, Kromhout H, Miedinger D, Phuleria H, Rochat T, Russi EW, Schindler C, Schwartz J, Vermeulen R, Luisetti M and Probst-Hensch N.
Journal Occup Environ Med 71 (4), 234-240 (2014)
Title Retarded protein folding of the human Z-type alpha(1)-antitrypsin variant is suppressed by Cpr2p .
Author Jung CH, Kim YH, Lee K and Im H.
Journal Biochem. Biophys. Res. Commun. 445 (1), 191-195 (2014)
Title Clarification of the risk of chronic obstructive pulmonary disease in alpha1-antitrypsin deficiency PiMZ heterozygotes .
Author Molloy K, Hersh CP, Morris VB, Carroll TP, O'Connor CA, Lasky-Su JA, Greene CM, O'Neill SJ, Silverman EK and McElvaney NG.
Journal Am. J. Respir. Crit. Care Med. 189 (4), 419-427 (2014)
Title Kinetic intermediates en route to the final serpin-protease complex: studies of complexes of alpha1-protease inhibitor with trypsin .
Author Maddur AA, Swanson R, Izaguirre G, Gettins PG and Olson ST.
Journal J. Biol. Chem. 288 (44), 32020-32035 (2013)
Title Update of the human and mouse SERPIN gene superfamily .
Author Heit C, Jackson BC, McAndrews M, Wright MW, Thompson DC, Silverman GA, Nebert DW and Vasiliou V.
Journal Hum. Genomics 7, 22 (2013)
Title Alpha-1 Antitrypsin Deficiency .
Author Stoller,J.K., Lacbawan,F.L. and Aboussouan,L.S.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Alpha-1 antitrypsin response of stimulated alveolar macrophages .
Author Yuan ZA, Soprano KJ 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 MA, Narkates AJ and Miller EJ.
Journal Matrix 12 (3), 233-241 (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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