Gene Page: SERPINA3
Summary ?
| GeneID | 12 |
| Symbol | SERPINA3 |
| Synonyms | AACT|ACT|GIG24|GIG25 |
| Description | serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 |
| Reference | MIM:107280|HGNC:HGNC:16|Ensembl:ENSG00000196136|Ensembl:ENSG00000273259|HPRD:00120|Vega:OTTHUMG00000029851 |
| Gene type | protein-coding |
| Map location | 14q32.1 |
| Pascal p-value | 0.306 |
| Sherlock p-value | 0.053 |
| Fetal beta | -0.558 |
| eGene | Myers' cis & trans |
| Support | G2Cdb.humanNRC G2Cdb.humanPSD G2Cdb.humanPSP |
Gene in Data Sources
| Gene set name | Method of gene set | Description | Info |
|---|---|---|---|
| CV:PGCnp | Genome-wide Association Study | GWAS | |
| PMID:cooccur | High-throughput literature-search | Systematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included. | |
| Expression | Meta-analysis of gene expression | P value: 1.866 | |
| Literature | High-throughput literature-search | Co-occurance with Schizophrenia keywords: schizophrenia,schizophrenic,schizophrenias | Click to show details |
| Network | Shortest path distance of core genes in the Human protein-protein interaction network | Contribution to shortest path in PPI network: 0.0078 |
Section I. Genetics and epigenetics annotation
eQTL annotation
| SNP ID | Chromosome | Position | eGene | Gene Entrez ID | pvalue | qvalue | TSS distance | eQTL type |
|---|---|---|---|---|---|---|---|---|
| rs2997198 | chr1 | 80760865 | SERPINA3 | 12 | 0.18 | trans | ||
| rs16846456 | chr3 | 172757337 | SERPINA3 | 12 | 0.05 | trans | ||
| rs9293020 | chr5 | 22520547 | SERPINA3 | 12 | 0.14 | trans | ||
| rs16873760 | chr6 | 45729388 | SERPINA3 | 12 | 0.03 | trans | ||
| rs16873861 | chr6 | 45752854 | SERPINA3 | 12 | 0.02 | trans | ||
| rs11254107 | chr10 | 16650659 | SERPINA3 | 12 | 0.07 | trans |
Section II. Transcriptome annotation
General gene expression (GTEx)
Gene expression during devlopment (BrainCloud)
Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.
Gene expression of temporal and spatial changes (BrainSpan)
Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.
Top co-expressed genes in brain regions
| Top 10 positively co-expressed genes | ||
| Gene | Pearson's Correlation | Spearman's Correlation |
| NUDT18 | 0.54 | 0.43 |
| SULT1A1 | 0.54 | 0.43 |
| SHISA4 | 0.53 | 0.47 |
| C6orf1 | 0.53 | 0.51 |
| C12orf62 | 0.52 | 0.50 |
| EGFL7 | 0.52 | 0.46 |
| NDUFA7 | 0.52 | 0.45 |
| C11orf59 | 0.52 | 0.44 |
| ISOC2 | 0.52 | 0.53 |
| LRRC29 | 0.52 | 0.47 |
| Top 10 negatively co-expressed genes | ||
| Gene | Pearson's Correlation | Spearman's Correlation |
| ZNF326 | -0.38 | -0.41 |
| SFRS12 | -0.38 | -0.41 |
| THOC2 | -0.37 | -0.40 |
| PRPF38B | -0.36 | -0.42 |
| RBM25 | -0.35 | -0.41 |
| MAP4K4 | -0.35 | -0.36 |
| ZC3H13 | -0.35 | -0.35 |
| HNRNPH3 | -0.35 | -0.40 |
| PHF3 | -0.35 | -0.37 |
| EIF3A | -0.35 | -0.37 |
Section III. Gene Ontology annotation
| Molecular function | GO term | Evidence | Neuro keywords | PubMed ID |
|---|---|---|---|---|
| GO:0003677 | DNA binding | IC | 9880565 | |
| GO:0003677 | DNA binding | TAS | 14668352 | |
| GO:0005515 | protein binding | IPI | 12709365 |14668352 |14687906 | |
| GO:0030569 | chymotrypsin inhibitor activity | NAS | 9880565 | |
| Biological process | GO term | Evidence | Neuro keywords | PubMed ID |
| GO:0006954 | inflammatory response | NAS | 12475184 | |
| GO:0006953 | acute-phase response | IEA | - | |
| GO:0019216 | regulation of lipid metabolic process | NAS | 11835318 | |
| Cellular component | GO term | Evidence | Neuro keywords | PubMed ID |
| GO:0005576 | extracellular region | NAS | 9880565 |14718574 | |
| GO:0005622 | intracellular | NAS | 9880565 | |
| GO:0005634 | nucleus | TAS | 14668352 |
Section IV. Protein-protein interaction annotation
| Interactors | Aliases B | Official full name B | Experimental | Source | PubMed ID |
|---|---|---|---|---|---|
| APP | AAA | ABETA | ABPP | AD1 | APPI | CTFgamma | CVAP | PN2 | amyloid beta (A4) precursor protein | - | HPRD | 2190106|10048303 |
| CMA1 | CYH | MCT1 | MGC119890 | MGC119891 | chymase | chymase 1, mast cell | - | HPRD | 8226889 |
| CTRB1 | CTRB | FLJ42412 | MGC88037 | chymotrypsinogen B1 | - | HPRD | 2435303 |
| CTRL | CTRL1 | MGC70821 | chymotrypsin-like | - | HPRD | 8267879 |
| CTSG | CG | MGC23078 | cathepsin G | Alpha-1 ACT interacts with and inhibits cathepsin G. | BIND | 15131125 |
| CTSG | CG | MGC23078 | cathepsin G | - | HPRD | 8849841 |9698370 |10512690 |
| DNAJC1 | DNAJL1 | ERdj1 | HTJ1 | MGC131954 | MTJ1 | DnaJ (Hsp40) homolog, subfamily C, member 1 | - | HPRD,BioGRID | 14668352 |
| ELA1 | - | elastase 1, pancreatic | - | HPRD | 2456771 |7759598 |
| ELA2 | GE | HLE | HNE | NE | PMN-E | elastase 2, neutrophil | - | HPRD,BioGRID | 8011628 |8718849 |
| ERBB2 | CD340 | HER-2 | HER-2/neu | HER2 | NEU | NGL | TKR1 | v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) | - | HPRD | 10829039 |
| F5 | FVL | PCCF | coagulation factor V (proaccelerin, labile factor) | - | HPRD | 8216224 |
| KLK2 | KLK2A2 | MGC12201 | hK2 | kallikrein-related peptidase 2 | - | HPRD,BioGRID | 9042371 |9428387 |
| KLK3 | APS | KLK2A1 | PSA | hK3 | kallikrein-related peptidase 3 | - | HPRD | 8732755 |9261179 |10759471 |11317942 |11735417 |
| LRP1 | A2MR | APOER | APR | CD91 | FLJ16451 | IGFBP3R | LRP | MGC88725 | TGFBR5 | low density lipoprotein-related protein 1 (alpha-2-macroglobulin receptor) | LRP interacts with alpha-1-ACT. | BIND | 15131125 |
| MST1 | D3F15S2 | DNF15S2 | HGFL | MSP | NF15S2 | macrophage stimulating 1 (hepatocyte growth factor-like) | - | HPRD | 11274154 |
| POLA1 | DKFZp686K1672 | POLA | p180 | polymerase (DNA directed), alpha 1, catalytic subunit | - | HPRD | 3490907 |
Section V. Pathway annotation
| Pathway name | Pathway size | # SZGR 2.0 genes in pathway | Info |
|---|---|---|---|
| FOURNIER ACINAR DEVELOPMENT LATE UP | 11 | 6 | All SZGR 2.0 genes in this pathway |
| SENGUPTA NASOPHARYNGEAL CARCINOMA WITH LMP1 DN | 175 | 82 | All SZGR 2.0 genes in this pathway |
| LIU CMYB TARGETS UP | 165 | 106 | All SZGR 2.0 genes in this pathway |
| CHARAFE BREAST CANCER BASAL VS MESENCHYMAL UP | 121 | 45 | All SZGR 2.0 genes in this pathway |
| SABATES COLORECTAL ADENOMA UP | 141 | 75 | All SZGR 2.0 genes in this pathway |
| GOZGIT ESR1 TARGETS DN | 781 | 465 | All SZGR 2.0 genes in this pathway |
| OUELLET CULTURED OVARIAN CANCER INVASIVE VS LMP DN | 35 | 20 | All SZGR 2.0 genes in this pathway |
| WONG ENDMETRIUM CANCER UP | 25 | 17 | All SZGR 2.0 genes in this pathway |
| WONG ENDOMETRIAL CANCER LATE | 10 | 5 | All SZGR 2.0 genes in this pathway |
| LINDGREN BLADDER CANCER CLUSTER 2B | 392 | 251 | All SZGR 2.0 genes in this pathway |
| AIYAR COBRA1 TARGETS UP | 39 | 25 | All SZGR 2.0 genes in this pathway |
| MOHANKUMAR TLX1 TARGETS DN | 193 | 112 | All SZGR 2.0 genes in this pathway |
| RICKMAN HEAD AND NECK CANCER C | 113 | 47 | All SZGR 2.0 genes in this pathway |
| COLIN PILOCYTIC ASTROCYTOMA VS GLIOBLASTOMA UP | 35 | 32 | All SZGR 2.0 genes in this pathway |
| ONDER CDH1 TARGETS 2 DN | 464 | 276 | All SZGR 2.0 genes in this pathway |
| CHESLER BRAIN QTL CIS | 75 | 51 | All SZGR 2.0 genes in this pathway |
| TARTE PLASMA CELL VS PLASMABLAST UP | 398 | 262 | All SZGR 2.0 genes in this pathway |
| LEE LIVER CANCER MYC DN | 63 | 40 | All SZGR 2.0 genes in this pathway |
| HSIAO LIVER SPECIFIC GENES | 244 | 154 | All SZGR 2.0 genes in this pathway |
| KAAB FAILED HEART ATRIUM DN | 141 | 99 | All SZGR 2.0 genes in this pathway |
| RUAN RESPONSE TO TNF UP | 12 | 10 | All SZGR 2.0 genes in this pathway |
| KAYO AGING MUSCLE UP | 244 | 165 | All SZGR 2.0 genes in this pathway |
| BLALOCK ALZHEIMERS DISEASE UP | 1691 | 1088 | All SZGR 2.0 genes in this pathway |
| RUAN RESPONSE TO TNF TROGLITAZONE UP | 17 | 11 | All SZGR 2.0 genes in this pathway |
| MCLACHLAN DENTAL CARIES DN | 245 | 144 | All SZGR 2.0 genes in this pathway |
| KEEN RESPONSE TO ROSIGLITAZONE DN | 106 | 68 | All SZGR 2.0 genes in this pathway |
| KAAB FAILED HEART VENTRICLE DN | 41 | 28 | All SZGR 2.0 genes in this pathway |
| MCLACHLAN DENTAL CARIES UP | 253 | 147 | All SZGR 2.0 genes in this pathway |
| BURTON ADIPOGENESIS PEAK AT 16HR | 40 | 24 | All SZGR 2.0 genes in this pathway |
| CREIGHTON ENDOCRINE THERAPY RESISTANCE 4 | 307 | 185 | All SZGR 2.0 genes in this pathway |
| RIGGINS TAMOXIFEN RESISTANCE DN | 220 | 147 | All SZGR 2.0 genes in this pathway |
| SARRIO EPITHELIAL MESENCHYMAL TRANSITION DN | 154 | 101 | All SZGR 2.0 genes in this pathway |
| MCCABE BOUND BY HOXC6 | 469 | 239 | All SZGR 2.0 genes in this pathway |
| SMID BREAST CANCER LUMINAL B UP | 172 | 109 | All SZGR 2.0 genes in this pathway |
| BOQUEST STEM CELL UP | 260 | 174 | All SZGR 2.0 genes in this pathway |
| BOQUEST STEM CELL CULTURED VS FRESH UP | 425 | 298 | All SZGR 2.0 genes in this pathway |
| ALONSO METASTASIS EMT UP | 36 | 24 | All SZGR 2.0 genes in this pathway |
| ALONSO METASTASIS UP | 198 | 128 | All SZGR 2.0 genes in this pathway |
| HSIAO HOUSEKEEPING GENES | 389 | 245 | All SZGR 2.0 genes in this pathway |
| LIU VAV3 PROSTATE CARCINOGENESIS UP | 89 | 61 | All SZGR 2.0 genes in this pathway |
| POOLA INVASIVE BREAST CANCER DN | 134 | 83 | All SZGR 2.0 genes in this pathway |
| SCHOEN NFKB SIGNALING | 34 | 26 | All SZGR 2.0 genes in this pathway |
| HOSHIDA LIVER CANCER SUBCLASS S3 | 266 | 180 | All SZGR 2.0 genes in this pathway |
| GOBERT OLIGODENDROCYTE DIFFERENTIATION DN | 1080 | 713 | All SZGR 2.0 genes in this pathway |
| PEDERSEN METASTASIS BY ERBB2 ISOFORM 6 | 29 | 20 | All SZGR 2.0 genes in this pathway |
| PECE MAMMARY STEM CELL UP | 146 | 75 | All SZGR 2.0 genes in this pathway |
| ACEVEDO FGFR1 TARGETS IN PROSTATE CANCER MODEL UP | 289 | 184 | All SZGR 2.0 genes in this pathway |
| NABA ECM REGULATORS | 238 | 125 | All SZGR 2.0 genes in this pathway |
| NABA MATRISOME ASSOCIATED | 753 | 411 | All SZGR 2.0 genes in this pathway |
| NABA MATRISOME | 1028 | 559 | All SZGR 2.0 genes in this pathway |