Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

SERPINA1 (serpin family A member 1)

Identity

Alias_namesalpha-1-antitrypsin
PI
Alias_symbol (synonym)AAT
A1A
PI1
alpha-1-antitrypsin
A1AT
alpha1AT
Other aliasPRO2275
HGNC (Hugo) SERPINA1
LocusID (NCBI) 5265
Atlas_Id 46442
Location 14q32.13  [Link to chromosome band 14q32]
Location_base_pair Starts at 94376747 and ends at 94388816 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
AGAP9 (10q11.22) / SERPINA1 (14q32.13)AKAP13 (15q25.3) / SERPINA1 (14q32.13)GAPDH (12p13.31) / SERPINA1 (14q32.13)
LAP3 (4p15.32) / SERPINA1 (14q32.13)LOC284232 () / SERPINA1 (14q32.13)MCL1 (1q21.3) / SERPINA1 (14q32.13)
MYH9 (22q12.3) / SERPINA1 (14q32.13)SERPINA1 (14q32.13) / ABHD14A (3p21.2)SERPINA1 (14q32.13) / AGXT2 (5p13.2)
SERPINA1 (14q32.13) / ALDOB (9q31.1)SERPINA1 (14q32.13) / ASXL2 (2p23.3)SERPINA1 (14q32.13) / CLTC (17q23.1)
SERPINA1 (14q32.13) / KIAA1217 (10p12.2)SERPINA1 (14q32.13) / KREMEN1 (22q12.1)SERPINA1 (14q32.13) / MOB2 (11p15.5)
SERPINA1 (14q32.13) / PRR12 (19q13.33)SERPINA1 (14q32.13) / PSMD2 (3q27.1)SERPINA1 (14q32.13) / RPL23 (17q12)
SERPINA1 (14q32.13) / SUMF1 (3p26.1)SERPINA1 (14q32.13) / TMEM123 (11q22.2)SERPINA1 (14q32.13) / TMEM230 (20p13)

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

 


External links

Nomenclature
HGNC (Hugo)SERPINA1   8941
Cards
Entrez_Gene (NCBI)SERPINA1  5265  serpin family A member 1
AliasesA1A; A1AT; AAT; PI; 
PI1; PRO2275; alpha1AT
GeneCards (Weizmann)SERPINA1
Ensembl hg19 (Hinxton)ENSG00000197249 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000197249 [Gene_View]  chr14:94376747-94388816 [Contig_View]  SERPINA1 [Vega]
ICGC DataPortalENSG00000197249
TCGA cBioPortalSERPINA1
AceView (NCBI)SERPINA1
Genatlas (Paris)SERPINA1
WikiGenes5265
SOURCE (Princeton)SERPINA1
Genetics Home Reference (NIH)SERPINA1
Genomic and cartography
GoldenPath hg38 (UCSC)SERPINA1  -     chr14:94376747-94388816 -  14q32.13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SERPINA1  -     14q32.13   [Description]    (hg19-Feb_2009)
EnsemblSERPINA1 - 14q32.13 [CytoView hg19]  SERPINA1 - 14q32.13 [CytoView hg38]
Mapping of homologs : NCBISERPINA1 [Mapview hg19]  SERPINA1 [Mapview hg38]
OMIM107400   606963   613490   
Gene and transcription
Genbank (Entrez)###############################################################################################################################################################################################################################################################
RefSeq transcript (Entrez)NM_000295 NM_001002235 NM_001002236 NM_001127700 NM_001127701 NM_001127702 NM_001127703 NM_001127704 NM_001127705 NM_001127706 NM_001127707
RefSeq genomic (Entrez)NC_000014 NC_018925 NG_008290 NT_187601
Consensus coding sequences : CCDS (NCBI)SERPINA1
Cluster EST : UnigeneHs.525557 [ NCBI ]
CGAP (NCI)Hs.525557
Alternative Splicing GalleryENSG00000197249
Gene ExpressionSERPINA1 [ NCBI-GEO ]   SERPINA1 [ EBI - ARRAY_EXPRESS ]   SERPINA1 [ SEEK ]   SERPINA1 [ MEM ]
Gene Expression Viewer (FireBrowse)SERPINA1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5265
GTEX Portal (Tissue expression)SERPINA1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP01009   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP01009  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP01009
Splice isoforms : SwissVarP01009
PhosPhoSitePlusP01009
Domaine pattern : Prosite (Expaxy)SERPIN (PS00284)   
Domains : Interpro (EBI)Serpin_CS    Serpin_dom    Serpin_fam   
Domain families : Pfam (Sanger)Serpin (PF00079)   
Domain families : Pfam (NCBI)pfam00079   
Domain families : Smart (EMBL)SERPIN (SM00093)  
Conserved Domain (NCBI)SERPINA1
DMDM Disease mutations5265
Blocks (Seattle)SERPINA1
PDB (SRS)1ATU    1D5S    1EZX    1HP7    1IZ2    1KCT    1OO8    1OPH    1PSI    1QLP    1QMB    2D26    2QUG    3CWL    3CWM    3DRM    3DRU    3NDD    3NDF    3NE4    3T1P    4PYW    5IO1    7API    8API    9API   
PDB (PDBSum)1ATU    1D5S    1EZX    1HP7    1IZ2    1KCT    1OO8    1OPH    1PSI    1QLP    1QMB    2D26    2QUG    3CWL    3CWM    3DRM    3DRU    3NDD    3NDF    3NE4    3T1P    4PYW    5IO1    7API    8API    9API   
PDB (IMB)1ATU    1D5S    1EZX    1HP7    1IZ2    1KCT    1OO8    1OPH    1PSI    1QLP    1QMB    2D26    2QUG    3CWL    3CWM    3DRM    3DRU    3NDD    3NDF    3NE4    3T1P    4PYW    5IO1    7API    8API    9API   
PDB (RSDB)1ATU    1D5S    1EZX    1HP7    1IZ2    1KCT    1OO8    1OPH    1PSI    1QLP    1QMB    2D26    2QUG    3CWL    3CWM    3DRM    3DRU    3NDD    3NDF    3NE4    3T1P    4PYW    5IO1    7API    8API    9API   
Structural Biology KnowledgeBase1ATU    1D5S    1EZX    1HP7    1IZ2    1KCT    1OO8    1OPH    1PSI    1QLP    1QMB    2D26    2QUG    3CWL    3CWM    3DRM    3DRU    3NDD    3NDF    3NE4    3T1P    4PYW    5IO1    7API    8API    9API   
SCOP (Structural Classification of Proteins)1ATU    1D5S    1EZX    1HP7    1IZ2    1KCT    1OO8    1OPH    1PSI    1QLP    1QMB    2D26    2QUG    3CWL    3CWM    3DRM    3DRU    3NDD    3NDF    3NE4    3T1P    4PYW    5IO1    7API    8API    9API   
CATH (Classification of proteins structures)1ATU    1D5S    1EZX    1HP7    1IZ2    1KCT    1OO8    1OPH    1PSI    1QLP    1QMB    2D26    2QUG    3CWL    3CWM    3DRM    3DRU    3NDD    3NDF    3NE4    3T1P    4PYW    5IO1    7API    8API    9API   
SuperfamilyP01009
Human Protein AtlasENSG00000197249
Peptide AtlasP01009
HPRD02463
IPIIPI00553177   IPI00790784   IPI00869004   IPI00305457   IPI01025833   IPI01025708   IPI01026374   IPI01025375   IPI01025252   
Protein Interaction databases
DIP (DOE-UCLA)P01009
IntAct (EBI)P01009
FunCoupENSG00000197249
BioGRIDSERPINA1
STRING (EMBL)SERPINA1
ZODIACSERPINA1
Ontologies - Pathways
QuickGOP01009
Ontology : AmiGOGolgi membrane  glycoprotein binding  protease binding  platelet degranulation  serine-type endopeptidase inhibitor activity  serine-type endopeptidase inhibitor activity  protein binding  extracellular region  extracellular region  proteinaceous extracellular matrix  extracellular space  extracellular space  endoplasmic reticulum  endoplasmic reticulum lumen  Golgi apparatus  ER to Golgi vesicle-mediated transport  acute-phase response  blood coagulation  negative regulation of endopeptidase activity  ER to Golgi transport vesicle  platelet alpha granule lumen  endoplasmic reticulum-Golgi intermediate compartment membrane  identical protein binding  intracellular membrane-bounded organelle  neutrophil degranulation  COPII vesicle coating  extracellular exosome  ficolin-1-rich granule lumen  
Ontology : EGO-EBIGolgi membrane  glycoprotein binding  protease binding  platelet degranulation  serine-type endopeptidase inhibitor activity  serine-type endopeptidase inhibitor activity  protein binding  extracellular region  extracellular region  proteinaceous extracellular matrix  extracellular space  extracellular space  endoplasmic reticulum  endoplasmic reticulum lumen  Golgi apparatus  ER to Golgi vesicle-mediated transport  acute-phase response  blood coagulation  negative regulation of endopeptidase activity  ER to Golgi transport vesicle  platelet alpha granule lumen  endoplasmic reticulum-Golgi intermediate compartment membrane  identical protein binding  intracellular membrane-bounded organelle  neutrophil degranulation  COPII vesicle coating  extracellular exosome  ficolin-1-rich granule lumen  
Pathways : KEGGComplement and coagulation cascades   
NDEx NetworkSERPINA1
Atlas of Cancer Signalling NetworkSERPINA1
Wikipedia pathwaysSERPINA1
Orthology - Evolution
OrthoDB5265
GeneTree (enSembl)ENSG00000197249
Phylogenetic Trees/Animal Genes : TreeFamSERPINA1
HOVERGENP01009
HOGENOMP01009
Homologs : HomoloGeneSERPINA1
Homology/Alignments : Family Browser (UCSC)SERPINA1
Gene fusions - Rearrangements
Fusion : MitelmanSERPINA1/ABHD14A [14q32.13/3p21.2]  
Fusion : MitelmanSERPINA1/KIAA1217 [14q32.13/10p12.2]  [t(10;14)(p12;q32)]  
Fusion Cancer (Beijing)LOC284232 [SERPINA1]  -  14q32.13 [FUSC002166]
Fusion Cancer (Beijing)SERPINA1 [14q32.13]  -  ASXL2 [2p23.3]  [FUSC002076]
Fusion Cancer (Beijing)SERPINA1 [14q32.13]  -  C20orf30 [FUSC002194]
Fusion Cancer (Beijing)SERPINA1 [14q32.13]  -  CLTC [17q23.1]  [FUSC002196]
Fusion Cancer (Beijing)SERPINA1 [14q32.13]  -  PRR12 [19q13.33]  [FUSC002198]
Fusion Cancer (Beijing)SERPINA1 [14q32.13]  -  SUMF1 [3p26.1]  [FUSC002199]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSERPINA1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SERPINA1
dbVarSERPINA1
ClinVarSERPINA1
1000_GenomesSERPINA1 
Exome Variant ServerSERPINA1
ExAC (Exome Aggregation Consortium)SERPINA1 (select the gene name)
Genetic variants : HAPMAP5265
Genomic Variants (DGV)SERPINA1 [DGVbeta]
DECIPHERSERPINA1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSERPINA1 
Mutations
ICGC Data PortalSERPINA1 
TCGA Data PortalSERPINA1 
Broad Tumor PortalSERPINA1
OASIS PortalSERPINA1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSERPINA1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSERPINA1
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
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
BioMutasearch SERPINA1
DgiDB (Drug Gene Interaction Database)SERPINA1
DoCM (Curated mutations)SERPINA1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SERPINA1 (select a term)
intoGenSERPINA1
Cancer3DSERPINA1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM107400    606963    613490   
Orphanet194    18024   
MedgenSERPINA1
Genetic Testing Registry SERPINA1
NextProtP01009 [Medical]
TSGene5265
GENETestsSERPINA1
Target ValidationSERPINA1
Huge Navigator SERPINA1 [HugePedia]
snp3D : Map Gene to Disease5265
BioCentury BCIQSERPINA1
ClinGenSERPINA1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5265
Chemical/Pharm GKB GenePA35509
Clinical trialSERPINA1
Miscellaneous
canSAR (ICR)SERPINA1 (select the gene name)
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSERPINA1
EVEXSERPINA1
GoPubMedSERPINA1
iHOPSERPINA1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 25 19:30:32 CEST 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.