Details for: SERPINA1
Associated with
Cells (max top 100)
(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)
- Cell Name: polychromatophilic erythroblast (CL0000550)
Fold Change: 181.1049
Cell Significance Index: -28.1700 - Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
Fold Change: 113.4270
Cell Significance Index: -28.7700 - Cell Name: mucosal type mast cell (CL0000485)
Fold Change: 82.1032
Cell Significance Index: -33.3600 - Cell Name: peripheral blood mononuclear cell (CL2000001)
Fold Change: 71.7361
Cell Significance Index: -36.9000 - Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
Fold Change: 55.3649
Cell Significance Index: 1380.6400 - Cell Name: ileal goblet cell (CL1000326)
Fold Change: 48.7614
Cell Significance Index: -32.7200 - Cell Name: periportal region hepatocyte (CL0019026)
Fold Change: 48.1511
Cell Significance Index: 710.7100 - Cell Name: ciliated cell of the bronchus (CL0002332)
Fold Change: 34.7214
Cell Significance Index: -33.1500 - Cell Name: orthochromatic erythroblast (CL0000552)
Fold Change: 22.7664
Cell Significance Index: -28.0700 - Cell Name: centrilobular region hepatocyte (CL0019029)
Fold Change: 15.3586
Cell Significance Index: 258.7200 - Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
Fold Change: 12.4867
Cell Significance Index: -33.4500 - Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
Fold Change: 12.2098
Cell Significance Index: 225.6700 - Cell Name: early T lineage precursor (CL0002425)
Fold Change: 10.5623
Cell Significance Index: 153.3500 - Cell Name: stromal cell of bone marrow (CL0010001)
Fold Change: 7.2858
Cell Significance Index: -28.7500 - Cell Name: neoplastic cell (CL0001063)
Fold Change: 6.4974
Cell Significance Index: 1289.4300 - Cell Name: hepatic pit cell (CL2000054)
Fold Change: 5.5676
Cell Significance Index: 14.9200 - Cell Name: midzonal region hepatocyte (CL0019028)
Fold Change: 5.0454
Cell Significance Index: 29.0600 - Cell Name: microfold cell of epithelium of small intestine (CL1000353)
Fold Change: 3.4874
Cell Significance Index: 241.1700 - Cell Name: colon goblet cell (CL0009039)
Fold Change: 2.8266
Cell Significance Index: 279.6100 - Cell Name: pulmonary alveolar epithelial cell (CL0000322)
Fold Change: 2.7717
Cell Significance Index: 2097.9700 - Cell Name: endothelial cell of periportal hepatic sinusoid (CL0019021)
Fold Change: 2.7666
Cell Significance Index: 9.6300 - Cell Name: intrahepatic cholangiocyte (CL0002538)
Fold Change: 2.3817
Cell Significance Index: 8.9700 - Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
Fold Change: 1.8785
Cell Significance Index: 14.8300 - Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
Fold Change: 1.7573
Cell Significance Index: 10.8200 - Cell Name: tuft cell of small intestine (CL0009080)
Fold Change: 1.6242
Cell Significance Index: 16.3900 - Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 1.5403
Cell Significance Index: 167.5400 - Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 1.4840
Cell Significance Index: 241.3700 - Cell Name: tuft cell of colon (CL0009041)
Fold Change: 1.4241
Cell Significance Index: 1285.8500 - Cell Name: gut absorptive cell (CL0000677)
Fold Change: 1.3344
Cell Significance Index: 80.1100 - Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
Fold Change: 1.2706
Cell Significance Index: 94.7000 - Cell Name: cell in vitro (CL0001034)
Fold Change: 1.2255
Cell Significance Index: 669.2800 - Cell Name: pancreatic acinar cell (CL0002064)
Fold Change: 0.1222
Cell Significance Index: 20.8600 - Cell Name: neutrophil progenitor cell (CL0000834)
Fold Change: 0.1202
Cell Significance Index: 3.2200 - Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 0.1076
Cell Significance Index: 3.1000 - Cell Name: intestinal epithelial cell (CL0002563)
Fold Change: 0.0971
Cell Significance Index: 1.0100 - Cell Name: abnormal cell (CL0001061)
Fold Change: 0.0903
Cell Significance Index: 9.2200 - Cell Name: enteroendocrine cell of colon (CL0009042)
Fold Change: 0.0891
Cell Significance Index: 16.9500 - Cell Name: fallopian tube secretory epithelial cell (CL4030006)
Fold Change: 0.0672
Cell Significance Index: 1.0400 - Cell Name: cholangiocyte (CL1000488)
Fold Change: 0.0527
Cell Significance Index: 0.5200 - Cell Name: enterocyte of epithelium of large intestine (CL0002071)
Fold Change: 0.0154
Cell Significance Index: 0.7000 - Cell Name: pancreatic PP cell (CL0002275)
Fold Change: 0.0149
Cell Significance Index: 9.3100 - Cell Name: neuron associated cell (CL0000095)
Fold Change: -0.0016
Cell Significance Index: -0.0600 - Cell Name: pancreatic A cell (CL0000171)
Fold Change: -0.0024
Cell Significance Index: -1.8100 - Cell Name: pancreatic D cell (CL0000173)
Fold Change: -0.0138
Cell Significance Index: -2.9000 - Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: -0.0151
Cell Significance Index: -28.4500 - Cell Name: anterior lens cell (CL0002223)
Fold Change: -0.0228
Cell Significance Index: -42.1200 - Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: -0.0235
Cell Significance Index: -2.6900 - Cell Name: lens epithelial cell (CL0002224)
Fold Change: -0.0275
Cell Significance Index: -42.3400 - Cell Name: type B pancreatic cell (CL0000169)
Fold Change: -0.0329
Cell Significance Index: -18.5800 - Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
Fold Change: -0.0409
Cell Significance Index: -0.8700 - Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
Fold Change: -0.0417
Cell Significance Index: -30.5400 - Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
Fold Change: -0.0547
Cell Significance Index: -34.7300 - Cell Name: hair follicular keratinocyte (CL2000092)
Fold Change: -0.0667
Cell Significance Index: -29.5100 - Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
Fold Change: -0.0721
Cell Significance Index: -0.6900 - Cell Name: dopaminergic neuron (CL0000700)
Fold Change: -0.0803
Cell Significance Index: -23.1000 - Cell Name: ciliary muscle cell (CL1000443)
Fold Change: -0.0846
Cell Significance Index: -38.4000 - Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: -0.0873
Cell Significance Index: -31.3100 - Cell Name: enteroendocrine cell of small intestine (CL0009006)
Fold Change: -0.1088
Cell Significance Index: -2.7200 - Cell Name: lactocyte (CL0002325)
Fold Change: -0.1105
Cell Significance Index: -14.2700 - Cell Name: pancreatic endocrine cell (CL0008024)
Fold Change: -0.1147
Cell Significance Index: -13.0900 - Cell Name: intermediate cell of urothelium (CL4030055)
Fold Change: -0.1315
Cell Significance Index: -23.7000 - Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
Fold Change: -0.1343
Cell Significance Index: -6.3100 - Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: -0.1537
Cell Significance Index: -30.8400 - Cell Name: monocyte-derived dendritic cell (CL0011031)
Fold Change: -0.1537
Cell Significance Index: -2.6400 - Cell Name: epithelial cell of stomach (CL0002178)
Fold Change: -0.1775
Cell Significance Index: -20.6800 - Cell Name: stromal cell of ovary (CL0002132)
Fold Change: -0.1890
Cell Significance Index: -25.9600 - Cell Name: transit amplifying cell of colon (CL0009011)
Fold Change: -0.2004
Cell Significance Index: -6.4200 - Cell Name: conjunctival epithelial cell (CL1000432)
Fold Change: -0.2184
Cell Significance Index: -2.9800 - Cell Name: basal cell of urothelium (CL1000486)
Fold Change: -0.2208
Cell Significance Index: -27.1500 - Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
Fold Change: -0.2295
Cell Significance Index: -6.4200 - Cell Name: pigmented ciliary epithelial cell (CL0002303)
Fold Change: -0.2365
Cell Significance Index: -34.3800 - Cell Name: hepatoblast (CL0005026)
Fold Change: -0.2420
Cell Significance Index: -4.0700 - Cell Name: BEST4+ enteroycte (CL4030026)
Fold Change: -0.2475
Cell Significance Index: -3.7300 - Cell Name: skeletal muscle fiber (CL0008002)
Fold Change: -0.2568
Cell Significance Index: -6.6000 - Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
Fold Change: -0.2763
Cell Significance Index: -28.7700 - Cell Name: tonsil germinal center B cell (CL2000006)
Fold Change: -0.2764
Cell Significance Index: -32.6000 - Cell Name: eukaryotic cell (CL0000255)
Fold Change: -0.2992
Cell Significance Index: -13.0100 - Cell Name: lung endothelial cell (CL1001567)
Fold Change: -0.3118
Cell Significance Index: -16.2400 - Cell Name: CD14-positive monocyte (CL0001054)
Fold Change: -0.3140
Cell Significance Index: -6.1400 - Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
Fold Change: -0.3643
Cell Significance Index: -28.8600 - Cell Name: hepatocyte (CL0000182)
Fold Change: -0.3699
Cell Significance Index: -5.1300 - Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: -0.4911
Cell Significance Index: -37.6900 - Cell Name: odontoblast (CL0000060)
Fold Change: -0.4996
Cell Significance Index: -64.0500 - Cell Name: intestinal tuft cell (CL0019032)
Fold Change: -0.5335
Cell Significance Index: -32.7100 - Cell Name: early pro-B cell (CL0002046)
Fold Change: -0.5762
Cell Significance Index: -37.1800 - Cell Name: pancreatic epsilon cell (CL0005019)
Fold Change: -0.5763
Cell Significance Index: -5.3400 - Cell Name: eye photoreceptor cell (CL0000287)
Fold Change: -0.5765
Cell Significance Index: -36.3400 - Cell Name: retinal progenitor cell (CL0002672)
Fold Change: -0.5843
Cell Significance Index: -32.7900 - Cell Name: bladder urothelial cell (CL1001428)
Fold Change: -0.5970
Cell Significance Index: -31.0100 - Cell Name: paneth cell of colon (CL0009009)
Fold Change: -0.6026
Cell Significance Index: -9.0300 - Cell Name: proerythroblast (CL0000547)
Fold Change: -0.6109
Cell Significance Index: -8.7600 - Cell Name: glycinergic neuron (CL1001509)
Fold Change: -0.6217
Cell Significance Index: -32.6400 - Cell Name: endothelial cell of venule (CL1000414)
Fold Change: -0.6391
Cell Significance Index: -7.2600 - Cell Name: classical monocyte (CL0000860)
Fold Change: -0.7368
Cell Significance Index: -6.8600 - Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
Fold Change: -0.7415
Cell Significance Index: -17.9600 - Cell Name: indirect pathway medium spiny neuron (CL4023029)
Fold Change: -0.7505
Cell Significance Index: -33.2000 - Cell Name: small intestine goblet cell (CL1000495)
Fold Change: -0.7681
Cell Significance Index: -26.9900 - Cell Name: Kupffer cell (CL0000091)
Fold Change: -0.7917
Cell Significance Index: -7.2500 - Cell Name: cortical cell of adrenal gland (CL0002097)
Fold Change: -0.8166
Cell Significance Index: -21.8800 - Cell Name: goblet cell (CL0000160)
Fold Change: -0.8281
Cell Significance Index: -7.4900
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Other Information
Genular Protein ID: 216985202
Symbol: A1AT_HUMAN
Name: Alpha-1 protease inhibitor
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 6319097
Title: Cloning and expression in Escherichia coli of full-length complementary DNA coding for human alpha 1-antitrypsin.
PubMed ID: 6319097
PubMed ID: 6093867
Title: Complete sequence of the cDNA for human alpha 1-antitrypsin and the gene for the S variant.
PubMed ID: 6093867
DOI: 10.1021/bi00316a003
PubMed ID: 6387509
Title: Synthesis in yeast of a functional oxidation-resistant mutant of human alpha-antitrypsin.
PubMed ID: 6387509
DOI: 10.1038/312077a0
PubMed ID: 2985281
Title: Cell-specific expression of a transfected human alpha 1-antitrypsin gene.
PubMed ID: 2985281
PubMed ID: 3491072
Title: Identification of a second mutation in the protein-coding sequence of the Z type alpha 1-antitrypsin gene.
PubMed ID: 3491072
PubMed ID: 17650587
Title: An alpha-1 antitrypsin genetic variant from India.
PubMed ID: 17650587
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 6979715
Title: Sequence homology and structural comparison between the chromosomal human alpha 1-antitrypsin and chicken ovalbumin genes.
PubMed ID: 6979715
DOI: 10.1038/297655a0
PubMed ID: 7045697
Title: Structure and variation of human alpha 1-antitrypsin.
PubMed ID: 7045697
DOI: 10.1038/298329a0
PubMed ID: 1906855
Title: Characterization of a 54 kDa, alpha 1-antitrypsin-like protein isolated from ascitic fluid of an endometrial cancer patient.
PubMed ID: 1906855
PubMed ID: 16622833
Title: Comprehensive glyco-proteomic analysis of human alpha1-antitrypsin and its charge isoforms.
PubMed ID: 16622833
PubMed ID: 8323530
Title: Sequencing of a urinary stone protein, identical to alpha-one antitrypsin, which lacks 22 amino acids.
PubMed ID: 8323530
PubMed ID: 3876243
Title: Alpha 1-antitrypsin and serum albumin mRNA accumulation in normal, acute phase and ZZ human liver.
PubMed ID: 3876243
PubMed ID: 7031661
Title: Cloning and sequence of cDNA coding for alpha 1-antitrypsin.
PubMed ID: 7031661
PubMed ID: 1406456
Title: Isolation and serine protease inhibitory activity of the 44-residue, C-terminal fragment of alpha 1-antitrypsin from human placenta.
PubMed ID: 1406456
PubMed ID: 3873938
Title: Construction and partial characterization of a human liver cDNA library.
PubMed ID: 3873938
PubMed ID: 3533918
Title: The inactivation of human plasma alpha 1-proteinase inhibitor by proteinases from Staphylococcus aureus.
PubMed ID: 3533918
PubMed ID: 12754519
Title: Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry.
PubMed ID: 12754519
DOI: 10.1038/nbt827
PubMed ID: 15084671
PubMed ID: 14760718
Title: Screening for N-glycosylated proteins by liquid chromatography mass spectrometry.
PubMed ID: 14760718
PubMed ID: 16335952
Title: Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.
PubMed ID: 16335952
DOI: 10.1021/pr0502065
PubMed ID: 16263699
Title: Elucidation of N-glycosylation sites on human platelet proteins: a glycoproteomic approach.
PubMed ID: 16263699
PubMed ID: 19159218
Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
PubMed ID: 19159218
DOI: 10.1021/pr8008012
PubMed ID: 19139490
Title: A strategy for precise and large scale identification of core fucosylated glycoproteins.
PubMed ID: 19139490
PubMed ID: 19838169
Title: Enrichment of glycopeptides for glycan structure and attachment site identification.
PubMed ID: 19838169
DOI: 10.1038/nmeth.1392
PubMed ID: 21269460
Title: Initial characterization of the human central proteome.
PubMed ID: 21269460
PubMed ID: 22171320
Title: Human urinary glycoproteomics; attachment site specific analysis of N- and O-linked glycosylations by CID and ECD.
PubMed ID: 22171320
PubMed ID: 24275569
Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
PubMed ID: 24275569
PubMed ID: 26091039
Title: A single kinase generates the majority of the secreted phosphoproteome.
PubMed ID: 26091039
PubMed ID: 25944712
Title: N-terminome analysis of the human mitochondrial proteome.
PubMed ID: 25944712
PubMed ID: 31358993
Title: CELA2A mutations predispose to early-onset atherosclerosis and metabolic syndrome and affect plasma insulin and platelet activation.
PubMed ID: 31358993
PubMed ID: 31142615
Title: The E3 ubiquitin ligase MARCH2 regulates ERGIC3-dependent trafficking of secretory proteins.
PubMed ID: 31142615
PubMed ID: 6332197
Title: Human alpha 1-proteinase inhibitor. Crystal structure analysis of two crystal modifications, molecular model and preliminary analysis of the implications for function.
PubMed ID: 6332197
PubMed ID: 2785270
Title: The S variant of human alpha 1-antitrypsin, structure and implications for function and metabolism.
PubMed ID: 2785270
PubMed ID: 8543039
Title: Crystal structure of an uncleaved alpha 1-antitrypsin reveals the conformation of its inhibitory reactive loop.
PubMed ID: 8543039
PubMed ID: 8756325
Title: Inhibitory conformation of the reactive loop of alpha 1-antitrypsin.
PubMed ID: 8756325
DOI: 10.1038/nsb0896-676
PubMed ID: 8939743
Title: The native strains in the hydrophobic core and flexible reactive loop of a serine protease inhibitor: crystal structure of an uncleaved alpha1-antitrypsin at 2.7 A.
PubMed ID: 8939743
PubMed ID: 9466920
Title: Wild-type alpha 1-antitrypsin is in the canonical inhibitory conformation.
PubMed ID: 9466920
PubMed ID: 11057674
Title: Structure of a serpin-protease complex shows inhibition by deformation.
PubMed ID: 11057674
DOI: 10.1038/35038119
PubMed ID: 10716194
Title: Cleaved antitrypsin polymers at atomic resolution.
PubMed ID: 10716194
DOI: 10.1110/ps.9.2.417
PubMed ID: 10933492
Title: Topography of a 2.0 A structure of alpha1-antitrypsin reveals targets for rational drug design to prevent conformational disease.
PubMed ID: 10933492
DOI: 10.1110/ps.9.7.1274
PubMed ID: 11178897
Title: A 2.1 A resolution structure of an uncleaved alpha(1)-antitrypsin shows variability of the reactive center and other loops.
PubMed ID: 11178897
PubMed ID: 12244055
Title: Interactions causing the kinetic trap in serpin protein folding.
PubMed ID: 12244055
PubMed ID: 12860985
Title: Canonical inhibitor-like interactions explain reactivity of alpha1-proteinase inhibitor Pittsburgh and antithrombin with proteinases.
PubMed ID: 12860985
PubMed ID: 2669992
Title: Alpha 1-antitrypsin: structure, function and molecular biology of the gene.
PubMed ID: 2669992
DOI: 10.1007/bf01115992
PubMed ID: 1859394
Title: The molecular genetics of alpha 1 antitrypsin deficiency.
PubMed ID: 1859394
PubMed ID: 2901226
Title: Characterization of the gene and protein of the common alpha 1-antitrypsin normal M2 allele.
PubMed ID: 2901226
PubMed ID: 2394452
Title: Characterisation of the alpha-1-antitrypsin M3 gene, a normal variant.
PubMed ID: 2394452
DOI: 10.1007/bf00206766
PubMed ID: 2035534
Title: Characterization of the molecular basis of the alpha 1-antitrypsin F allele.
PubMed ID: 2035534
PubMed ID: 2784123
Title: A Pro-->Leu substitution in codon 369 of the alpha-1-antitrypsin deficiency variant PI M-Heerlen.
PubMed ID: 2784123
DOI: 10.1007/bf00279001
PubMed ID: 2786335
Title: In-frame single codon deletion in the M-Malton deficiency allele of alpha 1-antitrypsin.
PubMed ID: 2786335
PubMed ID: 1967187
Title: Molecular basis of alpha 1-antitrypsin deficiency and emphysema associated with the alpha 1-antitrypsin M-Mineral springs allele.
PubMed ID: 1967187
PubMed ID: 2309708
Title: Molecular analysis of the gene of the alpha 1-antitrypsin deficiency variant, M-Nichinan.
PubMed ID: 2309708
PubMed ID: 3262617
Title: Characterization of the gene and protein of the alpha 1-antitrypsin 'deficiency' allele M-Procida.
PubMed ID: 3262617
PubMed ID: 8364590
Title: Genetic diversity from a limited repertoire of mutations on different common allelic backgrounds: alpha 1-antitrypsin deficiency variant P-Duarte.
PubMed ID: 8364590
PubMed ID: 6604220
Title: Mutation of antitrypsin to antithrombin. Alpha 1-antitrypsin Pittsburgh (358 Met leads to Arg), a fatal bleeding disorder.
PubMed ID: 6604220
PubMed ID: 1905728
Title: Siiyama (serine 53 (TCC) to phenylalanine 53 (TTC)). A new alpha 1-antitrypsin-deficient variant with mutation on a predicted conserved residue of the serpin backbone.
PubMed ID: 1905728
PubMed ID: 2316526
Title: Characterization of the normal alpha 1-antitrypsin allele V-Munich: a variant associated with a unique protein isoelectric focusing pattern.
PubMed ID: 2316526
PubMed ID: 2390072
Title: Alpha 1-antitrypsin W-Bethesda: molecular basis of an unusual alpha 1-antitrypsin deficiency variant.
PubMed ID: 2390072
PubMed ID: 2339709
Title: Sequence data of the rare deficient alpha 1-antitrypsin variant PI Zaugsburg.
PubMed ID: 2339709
PubMed ID: 2227940
Title: Molecular characterisation of two alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) Null(Newport) (Gly115-->Ser) and (Pi) Z Wrexham (Ser-19-->Leu).
PubMed ID: 2227940
DOI: 10.1007/bf00194233
PubMed ID: 2606478
Title: Molecular characterisation of three alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) nullcardiff (Asp256-->Val); PiM-Malton (Phe51-->deletion) and PiI (Arg39-->Cys).
PubMed ID: 2606478
DOI: 10.1007/bf00210671
PubMed ID: 2254451
Title: A null deficiency allele of alpha 1-antitrypsin, QO-Ludwigshafen, with altered tertiary structure.
PubMed ID: 2254451
DOI: 10.1172/jci114919
PubMed ID: 7977369
Title: Identification and DNA sequence analysis of 15 new alpha 1-antitrypsin variants, including two PI*Q0 alleles and one deficient PI*M allele.
PubMed ID: 7977369
PubMed ID: 9459000
Title: A new alpha 1-antitrypsin mutation, Thr-Met 85, (PI ZBristol) associated with novel electrophoretic properties.
PubMed ID: 9459000
PubMed ID: 10651487
Title: Identification and molecular characterization of the new alpha-1-antitrypsin deficient allele PI YBarcelona (Asp256Val and Pro391His).
PubMed ID: 10651487
PubMed ID: 10612848
Title: A novel alpha-1-antitrypsin r281del variant found in a population sample from the Basque country.
PubMed ID: 10612848
DOI: 10.1002/(sici)1098-1004(200001)15:1<121::aid-humu37>3.0.co;2-u
PubMed ID: 23826168
Title: SERPINA2 is a novel gene with a divergent function from SERPINA1.
PubMed ID: 23826168
PubMed ID: 26797521
Title: The M358R variant of alpha(1)-proteinase inhibitor inhibits coagulation factor VIIa.
PubMed ID: 26797521
Sequence Information:
- Length: 418
- Mass: 46737
- Checksum: 7016555F273B7F16
- Sequence:
MPSSVSWGIL LLAGLCCLVP VSLAEDPQGD AAQKTDTSHH DQDHPTFNKI TPNLAEFAFS LYRQLAHQSN STNIFFSPVS IATAFAMLSL GTKADTHDEI LEGLNFNLTE IPEAQIHEGF QELLRTLNQP DSQLQLTTGN GLFLSEGLKL VDKFLEDVKK LYHSEAFTVN FGDTEEAKKQ INDYVEKGTQ GKIVDLVKEL DRDTVFALVN YIFFKGKWER PFEVKDTEEE DFHVDQVTTV KVPMMKRLGM FNIQHCKKLS SWVLLMKYLG NATAIFFLPD EGKLQHLENE LTHDIITKFL ENEDRRSASL HLPKLSITGT YDLKSVLGQL GITKVFSNGA DLSGVTEEAP LKLSKAVHKA VLTIDEKGTE AAGAMFLEAI PMSIPPEVKF NKPFVFLMIE QNTKSPLFMG KVVNPTQK
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.