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SERPINA1 (serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1)

Identity

Other namesA1A
A1AT
AAT
PI
PI1
PRO2275
alpha1AT
HGNC (Hugo) SERPINA1
LocusID (NCBI) 5265
Location 14q32.13
Location_base_pair Starts at 94843084 and ends at 94855153 bp from pter ( according to hg19-Feb_2009)
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 peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
GeneCards (Weizmann)SERPINA1
Ensembl (Hinxton)ENSG00000197249 [Gene_View]  chr14:94843084-94855153 [Contig_View]  SERPINA1 [Vega]
ICGC DataPortalENSG00000197249
AceView (NCBI)SERPINA1
Genatlas (Paris)SERPINA1
WikiGenes5265
SOURCE (Princeton)NM_000295 NM_001002235 NM_001002236 NM_001127700 NM_001127701 NM_001127702 NM_001127703 NM_001127704 NM_001127705 NM_001127706 NM_001127707
Genomic and cartography
GoldenPath (UCSC)SERPINA1  -  14q32.13   chr14:94843084-94855153 -  14q32.13   [Description]    (hg19-Feb_2009)
EnsemblSERPINA1 - 14q32.13 [CytoView]
Mapping of homologs : NCBISERPINA1 [Mapview]
OMIM107400   606963   613490   
Gene and transcription
Genbank (Entrez)AA317159 AF119873 AK026174 AK315637 BC011991
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)AC_000146 NC_000014 NC_018925 NG_008290 NT_026437 NT_187601 NW_001838113 NW_004929393
Consensus coding sequences : CCDS (NCBI)SERPINA1
Cluster EST : UnigeneHs.525557 [ NCBI ]
CGAP (NCI)Hs.525557
Alternative Splicing : Fast-db (Paris)GSHG0009591
Alternative Splicing GalleryENSG00000197249
Gene ExpressionSERPINA1 [ NCBI-GEO ]     SERPINA1 [ SEEK ]   SERPINA1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP01009 (Uniprot)
NextProtP01009  [Medical]
With graphics : InterProP01009
Splice isoforms : SwissVarP01009 (Swissvar)
Domaine pattern : Prosite (Expaxy)SERPIN (PS00284)   
Domains : Interpro (EBI)Serpin_CS    Serpin_dom    Serpin_fam   
Related proteins : CluSTrP01009
Domain families : Pfam (Sanger)Serpin (PF00079)   
Domain families : Pfam (NCBI)pfam00079   
Domain families : Smart (EMBL)SERPIN (SM00093)  
DMDM Disease mutations5265
Blocks (Seattle)P01009
PDB (SRS)1ATU    1D5S    1EZX    1HP7    1IZ2    1KCT    1OO8    1OPH    1PSI    1QLP    1QMB    2D26    2QUG    3CWL    3CWM    3DRM    3DRU    3NDD    3NDF    3NE4    3T1P    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    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    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    7API    8API    9API   
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
InParanoidP01009
Interologous Interaction database P01009
IntegromeDBSERPINA1
STRING (EMBL)SERPINA1
Ontologies - Pathways
Ontology : AmiGOresponse to hypoxia  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  Golgi apparatus  acute-phase response  blood coagulation  response to lead ion  negative regulation of endopeptidase activity  regulation of proteolysis  platelet activation  platelet alpha granule lumen  response to estradiol  response to lipopolysaccharide  response to methanol  response to triglyceride  response to cytokine  identical protein binding  response to chromate  extracellular vesicular exosome  
Ontology : EGO-EBIresponse to hypoxia  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  Golgi apparatus  acute-phase response  blood coagulation  response to lead ion  negative regulation of endopeptidase activity  regulation of proteolysis  platelet activation  platelet alpha granule lumen  response to estradiol  response to lipopolysaccharide  response to methanol  response to triglyceride  response to cytokine  identical protein binding  response to chromate  extracellular vesicular exosome  
Pathways : KEGGComplement and coagulation cascades   
Protein Interaction DatabaseSERPINA1
Wikipedia pathwaysSERPINA1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)SERPINA1
SNP (GeneSNP Utah)SERPINA1
SNP : HGBaseSERPINA1
Genetic variants : HAPMAPSERPINA1
1000_GenomesSERPINA1 
ICGC programENSG00000197249 
CONAN: Copy Number AnalysisSERPINA1 
Somatic Mutations in Cancer : COSMICSERPINA1 
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
LOVD (Leiden Open Variation Database)a1atvar
Mutations and Diseases : HGMDSERPINA1
OMIM107400    606963    613490   
MedgenSERPINA1
GENETestsSERPINA1
Disease Genetic AssociationSERPINA1
Huge Navigator SERPINA1 [HugePedia]  SERPINA1 [HugeCancerGEM]
Genomic VariantsSERPINA1  SERPINA1 [DGVbeta]
Exome VariantSERPINA1
dbVarSERPINA1
ClinVarSERPINA1
snp3D : Map Gene to Disease5265
General knowledge
Homologs : HomoloGeneSERPINA1
Homology/Alignments : Family Browser (UCSC)SERPINA1
Phylogenetic Trees/Animal Genes : TreeFamSERPINA1
Chemical/Protein Interactions : CTD5265
Chemical/Pharm GKB GenePA35509
Clinical trialSERPINA1
Cancer Resource (Charite)ENSG00000197249
Other databases
Probes
Litterature
PubMed433 Pubmed reference(s) in Entrez
CoreMineSERPINA1
iHOPSERPINA1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Oct 13 13:15:40 CEST 2014

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