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SERPINB1 (serpin family B member 1)

Identity

Alias_namesELANH2
serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 1
serpin peptidase inhibitor, clade B (ovalbumin), member 1
Alias_symbol (synonym)EI
PI2
anti-elastase
Other aliasHEL-S-27
HEL57
LEI
M/NEI
MNEI
PI-2
HGNC (Hugo) SERPINB1
LocusID (NCBI) 1992
Atlas_Id 54855
Location 6p25.2  [Link to chromosome band 6p25]
Location_base_pair Starts at 2832332 and ends at 2842049 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)
JPX (Xq13.2) / SERPINB1 (6p25.2)SERPINB1 (6p25.2) / ERRFI1 (1p36.23)SPTBN1 (2p16.2) / SERPINB1 (6p25.2)
UBE3D (6q14.1) / SERPINB1 (6p25.2)UBE2CBP SERPINB1 6p25.2

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(6;6)(p25;q14) UBE3D/SERPINB1


External links

Nomenclature
HGNC (Hugo)SERPINB1   3311
Cards
Entrez_Gene (NCBI)SERPINB1  1992  serpin family B member 1
AliasesEI; ELANH2; HEL-S-27; HEL57; 
LEI; M/NEI; MNEI; PI-2; PI2
GeneCards (Weizmann)SERPINB1
Ensembl hg19 (Hinxton)ENSG00000021355 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000021355 [Gene_View]  ENSG00000021355 [Sequence]  chr6:2832332-2842049 [Contig_View]  SERPINB1 [Vega]
ICGC DataPortalENSG00000021355
TCGA cBioPortalSERPINB1
AceView (NCBI)SERPINB1
Genatlas (Paris)SERPINB1
WikiGenes1992
SOURCE (Princeton)SERPINB1
Genetics Home Reference (NIH)SERPINB1
Genomic and cartography
GoldenPath hg38 (UCSC)SERPINB1  -     chr6:2832332-2842049 -  6p25.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SERPINB1  -     6p25.2   [Description]    (hg19-Feb_2009)
EnsemblSERPINB1 - 6p25.2 [CytoView hg19]  SERPINB1 - 6p25.2 [CytoView hg38]
Mapping of homologs : NCBISERPINB1 [Mapview hg19]  SERPINB1 [Mapview hg38]
OMIM130135   
Gene and transcription
Genbank (Entrez)AK223370 AK291327 AK298044 AK304641 AK309765
RefSeq transcript (Entrez)NM_030666
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SERPINB1
Cluster EST : UnigeneHs.381167 [ NCBI ]
CGAP (NCI)Hs.381167
Alternative Splicing GalleryENSG00000021355
Gene ExpressionSERPINB1 [ NCBI-GEO ]   SERPINB1 [ EBI - ARRAY_EXPRESS ]   SERPINB1 [ SEEK ]   SERPINB1 [ MEM ]
Gene Expression Viewer (FireBrowse)SERPINB1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1992
GTEX Portal (Tissue expression)SERPINB1
Human Protein AtlasENSG00000021355-SERPINB1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP30740   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP30740  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP30740
Splice isoforms : SwissVarP30740
PhosPhoSitePlusP30740
Domaine pattern : Prosite (Expaxy)SERPIN (PS00284)   
Domains : Interpro (EBI)Serpin_B1    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)SERPINB1
DMDM Disease mutations1992
Blocks (Seattle)SERPINB1
PDB (SRS)4GA7   
PDB (PDBSum)4GA7   
PDB (IMB)4GA7   
PDB (RSDB)4GA7   
Structural Biology KnowledgeBase4GA7   
SCOP (Structural Classification of Proteins)4GA7   
CATH (Classification of proteins structures)4GA7   
SuperfamilyP30740
Human Protein Atlas [tissue]ENSG00000021355-SERPINB1 [tissue]
Peptide AtlasP30740
HPRD00555
IPIIPI00027444   IPI01013899   IPI01014238   
Protein Interaction databases
DIP (DOE-UCLA)P30740
IntAct (EBI)P30740
FunCoupENSG00000021355
BioGRIDSERPINB1
STRING (EMBL)SERPINB1
ZODIACSERPINB1
Ontologies - Pathways
QuickGOP30740
Ontology : AmiGOserine-type endopeptidase inhibitor activity  serine-type endopeptidase inhibitor activity  extracellular region  extracellular region  extracellular space  extracellular space  negative regulation of endopeptidase activity  membrane  secretory granule lumen  neutrophil degranulation  collagen-containing extracellular matrix  extracellular exosome  
Ontology : EGO-EBIserine-type endopeptidase inhibitor activity  serine-type endopeptidase inhibitor activity  extracellular region  extracellular region  extracellular space  extracellular space  negative regulation of endopeptidase activity  membrane  secretory granule lumen  neutrophil degranulation  collagen-containing extracellular matrix  extracellular exosome  
Pathways : KEGGAmoebiasis   
NDEx NetworkSERPINB1
Atlas of Cancer Signalling NetworkSERPINB1
Wikipedia pathwaysSERPINB1
Orthology - Evolution
OrthoDB1992
GeneTree (enSembl)ENSG00000021355
Phylogenetic Trees/Animal Genes : TreeFamSERPINB1
HOVERGENP30740
HOGENOMP30740
Homologs : HomoloGeneSERPINB1
Homology/Alignments : Family Browser (UCSC)SERPINB1
Gene fusions - Rearrangements
Fusion : MitelmanUBE3D/SERPINB1 [6q14.1/6p25.2]  [t(6;6)(p25;q14)]  
Fusion PortalUBE2CBP SERPINB1 6p25.2 BRCA
Fusion : QuiverSERPINB1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSERPINB1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SERPINB1
dbVarSERPINB1
ClinVarSERPINB1
1000_GenomesSERPINB1 
Exome Variant ServerSERPINB1
ExAC (Exome Aggregation Consortium)ENSG00000021355
GNOMAD BrowserENSG00000021355
Varsome BrowserSERPINB1
Genetic variants : HAPMAP1992
Genomic Variants (DGV)SERPINB1 [DGVbeta]
DECIPHERSERPINB1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSERPINB1 
Mutations
ICGC Data PortalSERPINB1 
TCGA Data PortalSERPINB1 
Broad Tumor PortalSERPINB1
OASIS PortalSERPINB1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSERPINB1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSERPINB1
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 SERPINB1
DgiDB (Drug Gene Interaction Database)SERPINB1
DoCM (Curated mutations)SERPINB1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SERPINB1 (select a term)
intoGenSERPINB1
Cancer3DSERPINB1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM130135   
Orphanet
DisGeNETSERPINB1
MedgenSERPINB1
Genetic Testing Registry SERPINB1
NextProtP30740 [Medical]
TSGene1992
GENETestsSERPINB1
Target ValidationSERPINB1
Huge Navigator SERPINB1 [HugePedia]
snp3D : Map Gene to Disease1992
BioCentury BCIQSERPINB1
ClinGenSERPINB1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1992
Chemical/Pharm GKB GenePA35046
Clinical trialSERPINB1
Miscellaneous
canSAR (ICR)SERPINB1 (select the gene name)
Probes
Litterature
PubMed62 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSERPINB1
EVEXSERPINB1
GoPubMedSERPINB1
iHOPSERPINB1
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 : Tue Nov 6 11:38:20 CET 2018

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