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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SERPINB11 Gene

protein-coding   GIFtS: 48
GCID: GC18P061350

Serpin Peptidase Inhibitor, Clade B (Ovalbumin), Member...

(Previous names: serine (or cysteine) proteinase inhibitor, clade B (ovalbumin),...)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Serpin Peptidase Inhibitor, Clade B (Ovalbumin), Member 11
(Gene/Pseudogene)1 2
Serine (Or Cysteine) Proteinase Inhibitor, Clade B (Ovalbumin), Member 111 2
Serpin Peptidase Inhibitor, Clade B (Ovalbumin), Member 111
EPIPIN2
SERPIN112
Serpin B112

External Ids:    HGNC: 142211   Entrez Gene: 897782   Ensembl: ENSG000002060727   UniProtKB: Q96P153   

Export aliases for SERPINB11 gene to outside databases

Previous GC identifers: GC18P061216 GC18P059526 GC18P059528 GC18P058071


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for SERPINB11 Gene: 
SERPINB11 (serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)) is a protein-coding gene. Diseases associated with SERPINB11 include endometrioid ovary carcinoma, and edwards syndrome. GO annotations related to this gene include serine-type endopeptidase inhibitor activity. An important paralog of this gene is SERPINB7.

UniProtKB/Swiss-Prot: SPB11_HUMAN, Q96P15
Function: Has no serine protease inhibitory activity, probably due to mutations in the scaffold impairing
conformational change




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000018.9  NC_018929.2  NT_025028.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SERPINB11 gene promoter:
         GATA-3   AML1a   Brachyury   AP-4   GATA-1   GATA-2   PPAR-gamma1   FOXO4   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSERPINB11 promoter sequence
   Search SABiosciences Chromatin IP Primers for SERPINB11

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SERPINB11


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Ensembl cytogenetic band:  18q21.33   HGNC cytogenetic band: 18q21.33

SERPINB11 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SERPINB11 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18P061350:  view genomic region     (about GC identifiers)

Start:
61,314,813 bp from pter      End:
61,391,127 bp from pter
Size:
76,315 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SPB11_HUMAN, Q96P15 (See protein sequence)
Recommended Name: Serpin B11  
Size: 392 amino acids; 44099 Da
Subcellular location: Cytoplasm (By similarity)
Caution: Mutations in the scaffold leading to either a stop codon instead of a Glu at position 90, an Arg instead
of the well conserved Trp at position 188, or a Pro instead of Ser at position 303 lead to the loss of inhibitory
activity
Secondary accessions: A8K9R0 Q5Q120 Q5Q121 Q5Q122 Q5Q123 Q6ISD3 Q96P13 Q96P14
Alternative splicing: 3 isoforms:  Q96P15-1   Q96P15-2   Q96P15-3   

Explore the universe of human proteins at neXtProt for SERPINB11: NX_Q96P15

Explore proteomics data for SERPINB11 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96P15

  • SERPINB11 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SERPINB11 Protein Expression
    REFSEQ proteins: NP_536723.2  
    ENSEMBL proteins: 
     ENSP00000421854   ENSP00000441497   ENSP00000440795   ENSP00000441708  

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    Novus Biologicals SERPINB11 Lysate
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    Browse Sino Biological Cell Lysates 
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    Cloud-Clone Corp. Proteins for SERPINB11 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IEA--
    GO:0005737cytoplasm IEA--

    SERPINB11 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    SERPIN: Serine (or cysteine) peptidase inhibitors

    3 InterPro protein domains:
     IPR023795 Protease_inhib_I4_serpin_CS
     IPR023796 Serpin_dom
     IPR000215 Serpin_fam

    Graphical View of Domain Structure for InterPro Entry Q96P15

    ProtoNet protein and cluster: Q96P15

    1 Blocks protein domain: IPB000215 Serpin

    UniProtKB/Swiss-Prot: SPB11_HUMAN, Q96P15
    Similarity: Belongs to the serpin family. Ov-serpin subfamily


    SERPINB11 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SPB11_HUMAN, Q96P15
    Function: Has no serine protease inhibitory activity, probably due to mutations in the scaffold impairing
    conformational change

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004867serine-type endopeptidase inhibitor activity IBA--
         
    SERPINB11 for ontologies           About GeneDecksing


    Animal Models:
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SERPINB11 
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    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SERPINB11


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section




    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SERPINB11

    1 Interacting protein for SERPINB11 (Q96P153) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    POLR2CP193873I2D: score=4 
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0010951negative regulation of endopeptidase activity IBA--
    GO:0030162regulation of proteolysis IBA--

    SERPINB11 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SERPINB11 (SPB11)

    Search CenterWatch for drugs/clinical trials and news about SERPINB11 / SPB11

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SERPINB11 gene: 
    NM_080475.2  

    Unigene Cluster for SERPINB11:

    Serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)
    Hs.350958  [show with all ESTs]
    Unigene Representative Sequence: AY739645
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000489748 ENST00000382749(uc002ljk.4 uc010xes.2 uc010dqd.3)
    ENST00000467649 ENST00000544088(uc002ljj.4 uc010dqe.3) ENST00000538847(uc010dqf.3)
    ENST00000536691
    miRNA
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    Inhib. RNA
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SERPINB11
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                         Customized lentivirus expression plasmids for stable overexpression of SERPINB11 
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    Additional mRNA sequence: 

    AF419953.1 AF419954.1 AF419955.1 AK292775.1 AK296705.1 AK309537.1 AK309970.1 AY739645.1 
    AY792323.1 AY792324.1 AY792325.1 AY792326.1 BC069596.1 BC130370.1 BC130372.1 

    5 DOTS entries:

    DT.97831959  DT.121088260  DT.121088247  DT.121088239  DT.75187669 

    9 AceView cDNA sequences:

    AF419954 AI391500 BC069596 BE856469 NM_080475 AF419955 BX115281 AF419953 
    BF676407 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SERPINB11 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATGGAAAGAG
    SERPINB11 Expression
    About this image


    See SERPINB11 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SERPINB11

    SOURCE GeneReport for Unigene cluster: Hs.350958

    UniProtKB/Swiss-Prot: SPB11_HUMAN, Q96P15
    Tissue specificity: Detected in a restricted number of tissues, including lung, placenta, prostate, and tonsil

        SABiosciences Custom PCR Arrays for SERPINB11
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SERPINB11

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of human and mouse.

    Orthologs for SERPINB11 gene from 1/6 species (see all 6)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Serpinb111 , 5 serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), more1, 5 75.77(n)1
    67.01(a)1
      1 (50.34 cM)5
    669571  NM_025867.21  NP_080143.11 
     1073619295 


    ENSEMBL Gene Tree for SERPINB11 (if available)
    TreeFam Gene Tree for SERPINB11 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SERPINB11 gene
    SERPINB72  SERPINB12  SERPINI12  SERPINB52  SERPINB122  SERPINI22  SERPINB22  SERPINB102  
    SERPINB32  SERPINB42  SERPINE22  SERPINB62  SERPINC12  SERPINB92  SERPINE12  SERPINE32  
    SERPINB132  SERPINB82  
    18/37 SIMAP similar genes for SERPINB11 using alignment to 4 protein entries:     SPB11_HUMAN (see all proteins) (see all similar genes):
    SCCA1    AT3    SERPINB12    DKFZp686D06190    SERPINB3    DKFZp686O07189
    SERPINB13    SERPINB7    SERPINB10    SERPINB6    SERPINB4    SERPINB1
    SERPINI1    SERPINB8    SERPINA5    SCCA2    SERPINB2    PLANH2

    SERPINB11 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: SPB11_HUMAN, Q96P15
    Polymorphism: According to some authors, 4 of the identified SERPIN11 transcripts contained coding sequences that
    could be distinguished by different combinations of single nucleotide polymorphisms (designated SERPINB11a,
    SERPINB11b, SERPINB11c, and SERPINB11d), and one contained a nonsense mutation introducing a premature stop codon
    in position 90 identified in the official genome sequence (SERPINB11f) (PubMed:17562709). The sequence displayed
    here corresponds to SERPINB11a


    10/607 SNPs in SERPINB11 are shown (see all 607)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0124734
    ----see VAR_0124732 I T mis40--------
    VAR_0645724
    ----see VAR_0645722 I A mis40--------
    rs1435208411,2
    C--61368344(+) TTTGAG/TGGTAA 1 -- us2k10--------
    rs1839415451,2
    --61368451(+) TACAAC/TCTAGA 1 -- us2k10--------
    rs1162028531,2
    C,F--61368814(+) TAGAAC/TGGTTT 1 -- us2k11Minor allele frequency- T:0.04WA 118
    rs1467545441,2
    C--61368821(+) GTTTAC/GTTTCA 1 -- us2k10--------
    rs14032991,2
    C,F,A,H--61368825(+) AGTTTC/GAACTA 1 -- us2k116Minor allele frequency- G:0.45NS EA NA WA 1064
    rs1894525911,2
    --61368868(+) GAAAAC/TCACTG 1 -- us2k10--------
    rs1401377931,2
    --61368984(+) GTCTTC/TGAGAA 1 -- us2k10--------
    rs80837941,2
    C,F,A,H--61369142(+) GGCTTC/GTTGCT 1 -- us2k120Minor allele frequency- N:0.00EA NA NS WA 1418

    HapMap Linkage Disequilibrium report for SERPINB11 (61314813 - 61391127 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for SERPINB11:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv21739CNV Gain19812545
    nsv833672CNV Gain17160897


    Human Gene Mutation Database (HGMD): SERPINB11
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    4 diseases for SERPINB11:    About MalaCards
    endometrioid ovary carcinoma    edwards syndrome    tonsillitis    prostatitis

    1 disease from the University of Copenhagen DISEASES database for SERPINB11:
    Endometrioid ovary carcinoma

    SERPINB11 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SERPINB11

    Export disorders for SERPINB11 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SERPINB11 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with SERPINB11)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. SERPINB11 is a new noninhibitory intracellular serpin. Common single nucleotide polymorphisms in the scaffold impair conformational change. (PubMed id 17562709)1, 2, 3 Askew D.J.... Silverman G.A. (2007)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. Avian SERPINB11 gene: a marker for ovarian endometrioi d cancer in chickens. (PubMed id 22289513)1 Lim W....Song G. (2012)
    4. Loss and gain of function in SERPINB11: an example of a gene under selection on standing variation, with implications for host-pathoge n interactions. (PubMed id 22393410)1 Seixas S....Victor B.L. (2012)
    5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    6. A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study. (PubMed id 17903292)4 Hwang S.J....Fox C.S. (2007)
    7. Prominent use of distal 5' transcription start sites and discovery of a large number of additional exons in ENCODE regions. (PubMed id 17567994)1 Denoeud F....Reymond A. (2007)
    8. DNA sequence and analysis of human chromosome 18. (PubMed id 16177791)2 Nusbaum C.... Lander E.S. (2005)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 89778 HGNC: 14221 AceView: SERPINB11 Ensembl:ENSG00000206072 euGenes: HUgn89778
    ECgene: SERPINB11 H-InvDB: SERPINB11

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SERPINB11 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SERPINB11 gene:
    Search GeneIP for patents involving SERPINB11

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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