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SERPINA3 (serpin family A member 3)

Identity

Alias_namesAACT
alpha-1-antichymotrypsin
serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3
Alias_symbol (synonym)ACT
Other aliasGIG24
GIG25
HGNC (Hugo) SERPINA3
LocusID (NCBI) 12
Atlas_Id 42263
Location 14q32.13  [Link to chromosome band 14q32]
Location_base_pair Starts at 94612377 and ends at 94624053 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
COMP (19p13.11) / SERPINA3 (14q32.13)GGPS1 (1q42.3) / SERPINA3 (14q32.13)MAML1 (5q35.3) / SERPINA3 (14q32.13)
SERPINA3 (14q32.13) / CD59 (11p13)SERPINA3 (14q32.13) / RPL23 (17q12)SERPINA3 (14q32.13) / SERPINA3 (14q32.13)
SNX7 (1p21.3) / SERPINA3 (14q32.13)SERPINA3 14q32.13 / RPL23 17q12

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(14;17)(q32;q12) SERPINA3/RPL23

External links

Nomenclature
HGNC (Hugo)SERPINA3   16
Cards
Entrez_Gene (NCBI)SERPINA3  12  serpin family A member 3
AliasesAACT; ACT; GIG24; GIG25
GeneCards (Weizmann)SERPINA3
Ensembl hg19 (Hinxton)ENSG00000196136 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000196136 [Gene_View]  ENSG00000196136 [Sequence]  chr14:94612377-94624053 [Contig_View]  SERPINA3 [Vega]
ICGC DataPortalENSG00000196136
TCGA cBioPortalSERPINA3
AceView (NCBI)SERPINA3
Genatlas (Paris)SERPINA3
WikiGenes12
SOURCE (Princeton)SERPINA3
Genetics Home Reference (NIH)SERPINA3
Genomic and cartography
GoldenPath hg38 (UCSC)SERPINA3  -     chr14:94612377-94624053 +  14q32.13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SERPINA3  -     14q32.13   [Description]    (hg19-Feb_2009)
GoldenPathSERPINA3 - 14q32.13 [CytoView hg19]  SERPINA3 - 14q32.13 [CytoView hg38]
ImmunoBaseENSG00000196136
Mapping of homologs : NCBISERPINA3 [Mapview hg19]  SERPINA3 [Mapview hg38]
OMIM107280   
Gene and transcription
Genbank (Entrez)AB209060 AF089747 AH002551 AK093049 AK096120
RefSeq transcript (Entrez)NM_001085
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SERPINA3
Cluster EST : UnigeneHs.710488 [ NCBI ]
CGAP (NCI)Hs.710488
Alternative Splicing GalleryENSG00000196136
Gene ExpressionSERPINA3 [ NCBI-GEO ]   SERPINA3 [ EBI - ARRAY_EXPRESS ]   SERPINA3 [ SEEK ]   SERPINA3 [ MEM ]
Gene Expression Viewer (FireBrowse)SERPINA3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)12
GTEX Portal (Tissue expression)SERPINA3
Human Protein AtlasENSG00000196136-SERPINA3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP01011   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP01011  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP01011
Splice isoforms : SwissVarP01011
PhosPhoSitePlusP01011
Domaine pattern : Prosite (Expaxy)SERPIN (PS00284)   
Domains : Interpro (EBI)Serpin_CS    Serpin_dom    Serpin_fam    Serpin_sf   
Domain families : Pfam (Sanger)Serpin (PF00079)   
Domain families : Pfam (NCBI)pfam00079   
Domain families : Smart (EMBL)SERPIN (SM00093)  
Conserved Domain (NCBI)SERPINA3
DMDM Disease mutations12
Blocks (Seattle)SERPINA3
PDB (RSDB)1AS4    1QMN    2ACH    3CAA    3DLW    4CAA   
PDB Europe1AS4    1QMN    2ACH    3CAA    3DLW    4CAA   
PDB (PDBSum)1AS4    1QMN    2ACH    3CAA    3DLW    4CAA   
PDB (IMB)1AS4    1QMN    2ACH    3CAA    3DLW    4CAA   
Structural Biology KnowledgeBase1AS4    1QMN    2ACH    3CAA    3DLW    4CAA   
SCOP (Structural Classification of Proteins)1AS4    1QMN    2ACH    3CAA    3DLW    4CAA   
CATH (Classification of proteins structures)1AS4    1QMN    2ACH    3CAA    3DLW    4CAA   
SuperfamilyP01011
Human Protein Atlas [tissue]ENSG00000196136-SERPINA3 [tissue]
Peptide AtlasP01011
HPRD00120
IPIIPI00847635   IPI00550991   IPI00607870   IPI01025051   IPI01025316   IPI01025441   IPI01025667   
Protein Interaction databases
DIP (DOE-UCLA)P01011
IntAct (EBI)P01011
FunCoupENSG00000196136
BioGRIDSERPINA3
STRING (EMBL)SERPINA3
ZODIACSERPINA3
Ontologies - Pathways
QuickGOP01011
Ontology : AmiGOplatelet degranulation  DNA binding  serine-type endopeptidase inhibitor activity  serine-type endopeptidase inhibitor activity  protein binding  extracellular region  extracellular region  extracellular space  extracellular space  extracellular space  nucleus  acute-phase response  inflammatory response  negative regulation of endopeptidase activity  regulation of lipid metabolic process  maintenance of gastrointestinal epithelium  platelet alpha granule lumen  secretory granule lumen  azurophil granule lumen  neutrophil degranulation  collagen-containing extracellular matrix  extracellular exosome  blood microparticle  
Ontology : EGO-EBIplatelet degranulation  DNA binding  serine-type endopeptidase inhibitor activity  serine-type endopeptidase inhibitor activity  protein binding  extracellular region  extracellular region  extracellular space  extracellular space  extracellular space  nucleus  acute-phase response  inflammatory response  negative regulation of endopeptidase activity  regulation of lipid metabolic process  maintenance of gastrointestinal epithelium  platelet alpha granule lumen  secretory granule lumen  azurophil granule lumen  neutrophil degranulation  collagen-containing extracellular matrix  extracellular exosome  blood microparticle  
NDEx NetworkSERPINA3
Atlas of Cancer Signalling NetworkSERPINA3
Wikipedia pathwaysSERPINA3
Orthology - Evolution
OrthoDB12
GeneTree (enSembl)ENSG00000196136
Phylogenetic Trees/Animal Genes : TreeFamSERPINA3
HOGENOMP01011
Homologs : HomoloGeneSERPINA3
Homology/Alignments : Family Browser (UCSC)SERPINA3
Gene fusions - Rearrangements
Fusion : MitelmanSERPINA3/RPL23 [14q32.13/17q12]  
Fusion PortalSERPINA3 14q32.13 RPL23 17q12 PRAD
Fusion Cancer (Beijing)GGPS1 [1q42.3]  -  SERPINA3 [14q32.13]  [FUSC002155]
Fusion : QuiverSERPINA3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSERPINA3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SERPINA3
dbVarSERPINA3
ClinVarSERPINA3
1000_GenomesSERPINA3 
Exome Variant ServerSERPINA3
ExAC (Exome Aggregation Consortium)ENSG00000196136
GNOMAD BrowserENSG00000196136
Varsome BrowserSERPINA3
Genetic variants : HAPMAP12
Genomic Variants (DGV)SERPINA3 [DGVbeta]
DECIPHERSERPINA3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSERPINA3 
Mutations
ICGC Data PortalSERPINA3 
TCGA Data PortalSERPINA3 
Broad Tumor PortalSERPINA3
OASIS PortalSERPINA3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSERPINA3  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DSERPINA3
Mutations and Diseases : HGMDSERPINA3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SERPINA3
DgiDB (Drug Gene Interaction Database)SERPINA3
DoCM (Curated mutations)SERPINA3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SERPINA3 (select a term)
intoGenSERPINA3
Cancer3DSERPINA3(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM107280   
Orphanet12429   
DisGeNETSERPINA3
MedgenSERPINA3
Genetic Testing Registry SERPINA3
NextProtP01011 [Medical]
TSGene12
GENETestsSERPINA3
Target ValidationSERPINA3
Huge Navigator SERPINA3 [HugePedia]
snp3D : Map Gene to Disease12
BioCentury BCIQSERPINA3
ClinGenSERPINA3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD12
Chemical/Pharm GKB GenePA35020
Clinical trialSERPINA3
Miscellaneous
canSAR (ICR)SERPINA3 (select the gene name)
DataMed IndexSERPINA3
Probes
Litterature
PubMed191 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSERPINA3
EVEXSERPINA3
GoPubMedSERPINA3
iHOPSERPINA3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Nov 13 18:06:51 CET 2019
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