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SERPINA5 Gene

protein-coding   GIFtS: 67
GCID: GC14P095047

Serpin Peptidase Inhibitor, Clade A (Alpha-1 Antiproteinase,...

(Previous names: serine (or cysteine) proteinase inhibitor, clade A (alpha-1...)
(Previous symbols: PLANH3, PCI)
  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)
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Aliases
Serpin Peptidase Inhibitor, Clade A (Alpha-1 Antiproteinase,
Antitrypsin), Member 51 2
     PROCI2 3
PCI1 2 3 5     PCI-B2
PLANH31 2 3     Plasma Serine Protease Inhibitor2
Serine (Or Cysteine) Proteinase Inhibitor, Clade A (Alpha-1
Antiproteinase, Antitrypsin), Member 51 2
     Plasminogen Activator Inhibitor III2
Acrosomal Serine Protease Inhibitor2 3     Plasminogen Activator Inhibitor-32
Protein C Inhibitor2 3     Plasminogen Activator Inhibitor 33
PAI-32 3     Serpin A53
PAI32 3     SERPNA55

External Ids:    HGNC: 87231   Entrez Gene: 51042   Ensembl: ENSG000001884887   OMIM: 6018415   UniProtKB: P051543   

Export aliases for SERPINA5 gene to outside databases

Previous GC identifers: GC14P092555 GC14P088864 GC14P093018 GC14P093021 GC14P093037 GC14P094117 GC14P075228


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SERPINA5 Gene:
The protein encoded by this gene is a member of the serpin family of proteins, a group of proteins that inhibit
serine proteases. This gene is one in a cluster of serpin genes located on the q arm of chromosome 14. This
family member is a glycoprotein that can inhibit several serine proteases, including protein C and various
plasminogen activators and kallikreins, and it thus plays diverse roles in hemostasis and thrombosis in multiple
organs. (provided by RefSeq, Aug 2012)

GeneCards Summary for SERPINA5 Gene:
SERPINA5 (serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5) is a protein-coding gene. Diseases associated with SERPINA5 include factor viii deficiency, and venous thrombosis. GO annotations related to this gene include heparin binding and protease binding. An important paralog of this gene is SERPING1.

UniProtKB/Swiss-Prot: IPSP_HUMAN, P05154
Function: Heparin-dependent serine protease inhibitor acting in body fluids and secretions. Inactivates serine
proteases by binding irreversibly to their serine activation site. Involved in the regulation of intravascular
and extravascular proteolytic activities. Plays hemostatic roles in the blood plasma. Acts as a procoagulant and
proinflammatory factor by inhibiting the anticoagulant activated protein C factor as well as the generation of
activated protein C factor by the thrombin/thrombomodulin complex. Acts as an anticoagulant factor by inhibiting
blood coagulation factors like prothrombin, factor XI, factor Xa, plasma kallikrein and fibrinolytic enzymes such
as tissue- and urinary-type plasminogen activators. In seminal plasma, inactivates several serine proteases
implicated in the reproductive system. Inhibits the serpin acrosin; indirectly protects component of the male
genital tract from being degraded by excessive released acrosin. Inhibits tissue-and urinary-type plasminogen
activator, prostate-specific antigen and kallikrein activities; has a control on the sperm motility and
fertilization. Inhibits the activated protein C-catalyzed degradation of SEMG1 and SEMG2; regulates the
degradation of semenogelin during the process of transfer of spermatozoa from the male reproductive tract into
the female tract. In urine, inhibits urinary-type plasminogen activator and kallikrein activities. Inactivates
membrane-anchored serine proteases activities such as MPRSS7 and TMPRSS11E. Inhibits urinary-type plasminogen
activator-dependent tumor cell invasion and metastasis. May also play a non-inhibitory role in seminal plasma and
urine as a hydrophobic hormone carrier by its binding to retinoic acid

Gene Wiki entry for SERPINA5 (Protein C inhibitor) Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000014.9  NC_018925.2  NT_026437.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the SERPINA5 gene promoter:
         NF-1   NF-1/L   HSF1 (long)   LUN-1   YY1   Max   HSF2   HSF1short   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSERPINA5 promoter sequence
   Search Chromatin IP Primers for SERPINA5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SERPINA5


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

Entrez Gene cytogenetic band: 14q32.1   Ensembl cytogenetic band:  14q32.13   HGNC cytogenetic band: 14q32.1

SERPINA5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SERPINA5 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P095047:  view genomic region     (about GC identifiers)

Start:
95,027,779 bp from pter      End:
95,059,457 bp from pter
Size:
31,679 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: IPSP_HUMAN, P05154 (See protein sequence)
Recommended Name: Plasma serine protease inhibitor precursor  
Size: 406 amino acids; 45675 Da
Subunit: Forms protease inhibiting heterodimers in extracellular body fluids with serine proteases such as
activated protein C/coagulation factor V/F5, acrosin/ACR, chymotrypsinogen B/CTRB1, prothrombin/F2, factor
Xa/F10, factor XI/F11, kallikrein/KLKB1, tissue kallikrein, trypsin/PRSS1, prostate specific antigen/KLK3, tissue
plasminogen activator/PLAT and urinary plasminogen activator/PLAU. Forms membrane-anchored serine proteases
inhibiting heterodimers with TMPRSS7 and TMPRSS11E. Interacts with SEMG2
6 PDB 3D structures from and Proteopedia for SERPINA5:
1LQ8 (3D)        1PAI (3D)        2HI9 (3D)        2OL2 (3D)        2PAI (3D)        3DY0 (3D)    
Secondary accessions: Q07616 Q9UG30

Explore the universe of human proteins at neXtProt for SERPINA5: NX_P05154

Explore proteomics data for SERPINA5 at MOPED

Post-translational modifications: 

  • N- and O-glycosylated. N-glycosylation consists of a mixture of sialylated bi- (including sialyl-Lewis X
    epitopes), tri- and tetra-antennary complex-type chains; affects the maximal heparin- and thrombomodulin-enhanced
    rates of thrombin inhibition. O-glycosylated with core 1 or possibly core 8 glycans. Further modified with 2
    sialic acid residues1
  • Proteolytically cleaved. Inhibition of proteases is accompanied by formation of a stable enzyme-inhibitor complex
    and by degradation of the serpin to lower molecular weight derivatives. Proteolytically cleaved at the
    N-terminus; inhibits slightly the heparin- and thrombomodulin-enhanced rates of thrombin inhibition1
  • Glycosylation2 at Thr39, Asn249, Asn262, Asn338
  • Modification sites at PhosphoSitePlus

  • See SERPINA5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000615.3  
    ENSEMBL proteins: 
     ENSP00000450484   ENSP00000450837   ENSP00000452469   ENSP00000451126   ENSP00000450745  
     ENSP00000451215   ENSP00000451697   ENSP00000451650   ENSP00000451610   ENSP00000450485  
     ENSP00000451487   ENSP00000333203  

    SERPINA5 Human Recombinant Protein Products:

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    Novus Biologicals SERPINA5 Lysates
    Browse Sino Biological Recombinant Proteins
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    ProSpec Recombinant Protein for SERPINA5
    Browse Proteins at Cloud-Clone Corp.

    SERPINA5 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Abcam antibodies for SERPINA5
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    ThermoFisher Antibodies for SERPINA5
    LSBio Antibodies in human, mouse, rat for SERPINA5

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    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


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

    3 InterPro protein domains:
     IPR023795 Serpin_CS
     IPR000215 Serpin_fam
     IPR023796 Serpin_dom

    Graphical View of Domain Structure for InterPro Entry P05154

    ProtoNet protein and cluster: P05154

    1 Blocks protein domain: IPB000215 Serpin

    UniProtKB/Swiss-Prot: IPSP_HUMAN, P05154
    Domain: The reactive center loop (RCL) extends out from the body of the protein and directs binding to the target
    protease. The protease cleaves the serpin at the reactive site within the RCL, establishing a covalent linkage
    between the carboxyl group of the serpin reactive site and the serine hydroxyl of the protease. The resulting
    inactive serpin-protease complex is highly stable
    Similarity: Belongs to the serpin family


    SERPINA5 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: IPSP_HUMAN, P05154
    Function: Heparin-dependent serine protease inhibitor acting in body fluids and secretions. Inactivates serine
    proteases by binding irreversibly to their serine activation site. Involved in the regulation of intravascular
    and extravascular proteolytic activities. Plays hemostatic roles in the blood plasma. Acts as a procoagulant and
    proinflammatory factor by inhibiting the anticoagulant activated protein C factor as well as the generation of
    activated protein C factor by the thrombin/thrombomodulin complex. Acts as an anticoagulant factor by inhibiting
    blood coagulation factors like prothrombin, factor XI, factor Xa, plasma kallikrein and fibrinolytic enzymes such
    as tissue- and urinary-type plasminogen activators. In seminal plasma, inactivates several serine proteases
    implicated in the reproductive system. Inhibits the serpin acrosin; indirectly protects component of the male
    genital tract from being degraded by excessive released acrosin. Inhibits tissue-and urinary-type plasminogen
    activator, prostate-specific antigen and kallikrein activities; has a control on the sperm motility and
    fertilization. Inhibits the activated protein C-catalyzed degradation of SEMG1 and SEMG2; regulates the
    degradation of semenogelin during the process of transfer of spermatozoa from the male reproductive tract into
    the female tract. In urine, inhibits urinary-type plasminogen activator and kallikrein activities. Inactivates
    membrane-anchored serine proteases activities such as MPRSS7 and TMPRSS11E. Inhibits urinary-type plasminogen
    activator-dependent tumor cell invasion and metastasis. May also play a non-inhibitory role in seminal plasma and
    urine as a hydrophobic hormone carrier by its binding to retinoic acid
    Enzyme regulation: Its inhibitory activity is greatly enhanced in the presence of glycosaminoglycans, heparin,
    thrombomodulin and phospholipids vesicles

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001972retinoic acid binding IDA11722589
    GO:0002020protease binding IPI10340997
    GO:0004867serine-type endopeptidase inhibitor activity IDA10340997
    GO:0005515protein binding ----
    GO:0005539glycosaminoglycan binding TAS8796266
         
    SERPINA5 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SERPINA5:
     Increased homologous recombina 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Serpina5):
     endocrine/exocrine gland  reproductive system 

    SERPINA5 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Serpina5tm1Gei for SERPINA5

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SERPINA5
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SERPINA5
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SERPINA5

    miRNA
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    Block miRNA regulation of human, mouse, rat SERPINA5 using miScript Target Protectors
    8 qRT-PCR Assays for microRNAs that regulate SERPINA5:
    hsa-miR-198 hsa-miR-525-5p hsa-miR-634 hsa-miR-518a-5p hsa-miR-516a-3p hsa-miR-516b* hsa-miR-450b-5p hsa-miR-520a-5p
    SwitchGear 3'UTR luciferase reporter plasmidSERPINA5 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SERPINA5

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: SERPINA5 (NM_000624)
    Sino Biological Human cDNA Clone for SERPINA5
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SERPINA5


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    IPSP_HUMAN, P05154: Secreted, extracellular space. Note=Localized on the plasma membrane overlying the acrosomal
    head of spermatozoa of ependymal spermatozoa and ejaculated sperm. Localized at the equatorial segment of
    acrosome-reacted spematozoa. Localized in alpha granules in resting platelets and on the external plasma membrane
    and within the surface-connected cannalicular system in activated platelets
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane5
    endoplasmic reticulum1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 19):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002080acrosomal membrane IDA7521127
    GO:0005576extracellular region TAS11120760
    GO:0005615extracellular space IDA10340997
    GO:0009897external side of plasma membrane IDA9556620
    GO:0016020membrane IDA7521127

    SERPINA5 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for SERPINA5 About    
    See pathways by source

    SuperPathContained pathways About
    1Complement and coagulation cascades
    Complement and coagulation cascades0.71
    Complement and Coagulation Cascades0.71
    2Formation of Fibrin Clot (Clotting Cascade)
    Blood Coagulation Signaling Pathways0.51
    3Translation Insulin regulation of translation
    Cell adhesion PLAU signaling0.35

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for SERPINA5
        Blood Coagulation Signaling Pathways


    1 GeneGo (Thomson Reuters) Pathway for SERPINA5
        Cell adhesion PLAU signaling

    1 BioSystems Pathway for SERPINA5
        Complement and Coagulation Cascades



    1 Kegg Pathway  (Kegg details for SERPINA5):
        Complement and coagulation cascades


    SERPINA5 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SERPINA5
    Interactions:

        GeneGlobe Interaction Network for SERPINA5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

    Selected Interacting proteins for SERPINA5 (P051542, 3 ENSP000003332034) via UniProtKB, MINT, STRING, and/or I2D (see all 26)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COPS6Q7L5N12, 3MINT-63402 I2D: score=5 
    ACRP103233, ENSP000002161394I2D: score=2 STRING: ENSP00000216139
    KLKB1P039523, ENSP000002646904I2D: score=2 STRING: ENSP00000264690
    PLATP007503, ENSP000002208094I2D: score=2 STRING: ENSP00000220809
    PROCP040703, ENSP000002340714I2D: score=2 STRING: ENSP00000234071
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006869lipid transport IEA--
    GO:0007283spermatogenesis ISS--
    GO:0007342fusion of sperm to egg plasma membrane NAS9510955
    GO:0010951negative regulation of endopeptidase activity IBA--
    GO:0030162regulation of proteolysis IBA--

    SERPINA5 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SERPINA5 (IPSP)

    2 DrugBank Compounds for SERPINA5    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Drotrecogin alfaAnticoagulant protein C (see all 4)60202-16-6target--10456457 12671072 8391599 7769227 9620917
    UrokinaseU-plasminogen activator (see all 3)9039-53-6target--14645112 17434507 17253188

    4 Novoseek inferred chemical compound relationships for SERPINA5 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    serine 50.9 10 15752693 (1), 18983517 (1), 12413592 (1), 12176977 (1) (see all 8)
    heparin 48.6 2 12413592 (1), 12818196 (1)
    fibrinogen 36.3 2 8128433 (1), 7571997 (1)
    warfarin 28.5 1 10499903 (1)



    SERPINA5 for compounds           About GeneDecksing



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SERPINA5 gene: 
    NM_000624.5  

    Unigene Cluster for SERPINA5:

    Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5
    Hs.159628  [show with all ESTs]
    Unigene Representative Sequence: NM_000624
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000554220 ENST00000553780 ENST00000556730(uc010ave.2) ENST00000554760
    ENST00000554866 ENST00000556775(uc001ydn.1) ENST00000553511 ENST00000554633
    ENST00000555681 ENST00000554276 ENST00000557598 ENST00000556064 ENST00000329597(uc001ydm.2)

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    hsa-miR-198 hsa-miR-525-5p hsa-miR-634 hsa-miR-518a-5p hsa-miR-516a-3p hsa-miR-516b* hsa-miR-450b-5p hsa-miR-520a-5p
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      QuantiFast Probe-based Assays in human, mouse, rat SERPINA5

    Additional mRNA sequence: 

    AK096131.1 AK293192.1 AK298279.1 AL080185.1 BC008915.2 J02639.1 S58545.1 U35464.1 

    18 DOTS entries:

    DT.85104682  DT.100831497  DT.91926531  DT.91944271  DT.120779169  DT.95255240  DT.92430151  DT.92430155 
    DT.120779240  DT.120779330  DT.95231261  DT.95255243  DT.120779130  DT.85104683  DT.92400801  DT.120779184 
    DT.120779188  DT.120779232 

    Selected AceView cDNA sequences (see all 1378):

    BX448791 CD610542 BX450101 CA445716 BG562615 CD358343 BM663016 R29058 
    BM977531 BM694148 CR593040 AI146388 BI825717 AV660993 BF589722 BG567810 
    BM708845 BX450542 AW205820 BQ653323 BU731522 CR601472 BE646029 T29357 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SERPINA5 (see all 10)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b · 5c · 5d · 5e ^ 6a · 6b · 6c · 6d ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11a ·
    SP1:                                -     -     -     -     -                       -     -     -                                                               
    SP2:                                      -     -     -     -                                                                                                   
    SP3:                          -     -     -     -     -     -                 -     -     -     -     -     -     -     -                                       
    SP4:                                                                                                                                                            
    SP5:                                      -     -     -     -                                                                                                   

    ExUns: 11b
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for SERPINA5

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    SERPINA5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGAAAAATGT
    SERPINA5 Expression
    About this image


    SERPINA5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             XY Germ Cells Testis Cord
             Testis Interstitium
     
     Ovary (Reproductive System)    fully expand to see all 3 entries
             Pre-Granulosa Cells Primordial Follicle
             Mature follicles
     
     Bone (Muscoskeletal System)
             HyStem+TGFbeta3+GDF5-induced 7PEND24 cells
     
     Gonad
             XY Germ Cells Testis Cord
     
     Kidney (Urinary System)
    SERPINA5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SERPINA5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.159628

    UniProtKB/Swiss-Prot: IPSP_HUMAN, P05154
    Tissue specificity: Predominantly expressed in the epithelium of seminal vesicles. Expressed in the proximal
    tubular epithelium of the kidney. Expressed in the superficial and more differentiated epidermal keratinocytes of
    the skin. Expressed in megakaryocytes and platelets. Expressed poorly in kidney tumor cells compared to non tumor
    kidney tissues. Expressed in spermatozoa. Present in very high concentration in seminal plasma. Present in high
    concentration in plasma, synovial and Graaf follicle fluids. Present in low concentration in breast milk and in
    amniotic fluids. Present in very low concentration in urine, cerebrospinal fluids, saliva and tears (at protein
    level). Strongly expressed in liver. Expressed in kidney, spleen, pancreas, skeletal muscle, heart, testes,
    ovary, interstitial Leydig cells, epididymal glands, seminal vesicles and prostate

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

    Orthologs for SERPINA5 gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Serpina51 , 5 serine (or cysteine) peptidase inhibitor, clade A, more1, 5 73.94(n)1
    64.68(a)1
      12 (53.30 cM)5
    2685911  NM_172953.31  NP_766541.21 
     1041011135 


    ENSEMBL Gene Tree for SERPINA5 (if available)
    TreeFam Gene Tree for SERPINA5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SERPINA5 gene
    SERPING12  SERPINA12  SERPINA102  SERPINA112  SERPINA72  SERPINA122  SERPINA92  SERPINF12  
    SERPIND12  SERPINA42  SERPINA32  SERPINA62  SERPINF22  
    Selected SIMAP similar genes for SERPINA5 using alignment to 9 protein entries:     IPSP_HUMAN (see all proteins) (see all similar genes):
    SERPINA2    AT3    SERPINA3    AAT    PLANH2    SERPINA9
    DKFZp686D06190    SERPINA4    SERPINA7    SERPINA11    SERPINB6    SERPINA12
    SERPINI2    SERPINA13P    SERPINA6    SERPINB3    SERPINA1    SCCA2

    SERPINA5 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SERPINA5 (see all 480)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1405825851,2
    --76036612(+) TCCCTC/TTCCAG 1 -- us2k10--------
    rs101444531,2
    C,F,A,H--76036648(+) GCACCT/CGGCTC 1 -- us2k121Minor allele frequency- C:0.21NS EA NA CSA WA 2346
    rs1504863881,2
    --76036655(+) GCTCCA/GACATC 1 -- us2k10--------
    rs1808648051,2
    --76036737(+) TGCAAA/GGATCC 1 -- us2k10--------
    rs1382552681,2
    --76036747(+) CTTGTA/GATTGT 1 -- us2k10--------
    rs101445611,2
    C,F,A,H--76036778(+) ATCCAT/CGACAA 1 -- us2k1 tfbs313Minor allele frequency- C:0.31NS EA NA CSA WA 754
    rs764150951,2
    C,F--76036871(+) GGACAC/TGGATA 1 -- us2k12Minor allele frequency- T:0.01WA NA 238
    rs1160283581,2
    F--76036926(+) ATTTCC/TATCCT 1 -- us2k11Minor allele frequency- T:0.01WA 118
    rs765092581,2
    C,F--76036949(+) TAGGGA/GTCTCT 1 -- us2k12Minor allele frequency- G:0.05WA NA 238
    rs1842567161,2
    --76036979(+) CTCTTC/GCTCAT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for SERPINA5 (95027779 - 95059457 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for SERPINA5:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv832865CNV Gain17160897
    nsv470662CNV Gain18288195

    Human Gene Mutation Database (HGMD): SERPINA5
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SERPINA5
    DNA2.0 Custom Variant and Variant Library Synthesis for SERPINA5

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601841    OMIM disorders: --

    20 diseases for SERPINA5:    
    About MalaCards
    factor viii deficiency    venous thrombosis    pulmonary embolism    wegener's granulomatosis
    abdominal aortic aneurysm    disseminated intravascular coagulation    small cell carcinoma    uremia
    sickle cell disease    aortic aneurysm    epididymitis    male infertility
    infertility    renal cell carcinoma    thyroid cancer    myocardial infarction
    prostatitis    prostate cancer    breast cancer    thyroiditis


    SERPINA5 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for SERPINA5 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    venous thrombosis 21.7 2 8418545 (1), 12139754 (1)
    tumors 0 4 18983517 (2), 2153429 (1)

    Genetic Association Database (GAD): SERPINA5
    Human Genome Epidemiology (HuGE) Navigator: SERPINA5 (6 documents)

    Export disorders for SERPINA5 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)
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    PubMed articles for SERPINA5 gene, integrated from 10 sources (see all 130):
    (articles sorted by number of sources associating them with SERPINA5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Organization of the gene coding for human protein C inhibitor (plasminogen activator inhibitor-3). Assignment of the gene to chromosome 14. (PubMed id 1714450)1, 2, 3, 9 Meijers J.C.M. and Chung D.W. (J. Biol. Chem. 1991)
    2. Functionally active protein C inhibitor/plasminogen activator inhibitor-3 (PCI/PAI-3) is secreted in seminal vesicles, occurs at high concentrations in human seminal plasma and complexes with prostate-specific antigen. (PubMed id 1725227)1, 2, 9 Espana F.... Cabo A. (Thromb. Res. 1991)
    3. Update of the human and mouse SERPIN gene superfamily. (PubMed id 24172014)1, 3 Heit C....Vasiliou V. (Hum. Genomics 2013)
    4. Further insight into the roles of the glycans attached to human blood protein C inhibitor. (PubMed id 21056543)1, 2 Sun W....Schedin-Weiss S. (Biochem. Biophys. Res. Commun. 2010)
    5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    6. Molecular basis of thrombin recognition by protein C inhibitor revealed by the 1.6-A structure of the heparin-bridged complex. (PubMed id 18362344)1, 2 Li W.... Huntington J.A. (Proc. Natl. Acad. Sci. U.S.A. 2008)
    7. The heparin binding site of protein C inhibitor is protease- dependent. (PubMed id 18974053)1, 2 Li W. and Huntington J.A. (J. Biol. Chem. 2008)
    8. Matriptase-3 is a novel phylogenetically preserved membrane-anchored serine protease with broad serpin reactivity. (PubMed id 15853774)1, 2 Szabo R.... Bugge T.H. (Biochem. J. 2005)
    9. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)1, 2 Liu T.... Smith R.D. (J. Proteome Res. 2005)
    10. Absence of mutations in the PCI gene in subfertile men. (PubMed id 15377716)1, 4 Gianotten J....Meijers J.C. (Mol. Hum. Reprod. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5104 HGNC: 8723 AceView: SERPINA5andSERPINA3 Ensembl:ENSG00000188488 euGenes: HUgn5104
    ECgene: SERPINA5 Kegg: 5104 H-InvDB: SERPINA5

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SERPINA5 Pharmacogenomics, SNPs, Pathways
    SeattleSNPshttp://pga.gs.washington.edu/data/serpina5/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SERPINA5 gene:
    Search GeneIP for patents involving SERPINA5

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



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