SERPINA10 Gene (Protein Coding)

Serpin Family A Member 10

GC14M094280
GIFtS:
39
The protein encoded by this gene belongs to the serpin family. It is predominantly expressed in the liver and secreted in plasma. It inhibits the activity of coagulation factors Xa and XIa in the presence of protein Z, calcium and phospholipid. Mutations in this gene are associated with venous thrombosis. Alternatively spliced transcript variants have been found for this gene.[... See more...

Aliases for SERPINA10 Gene

Aliases for SERPINA10 Gene

  • Serpin Family A Member 10 2 3 5
  • PZI 2 3 4
  • ZPI 2 3 4
  • Serine (Or Cysteine) Proteinase Inhibitor, Clade A (Alpha-1 Antiproteinase, Antitrypsin), Member 10 2 3
  • Serpin Peptidase Inhibitor, Clade A (Alpha-1 Antiproteinase, Antitrypsin), Member 10 2 3
  • Protein Z-Dependent Protease Inhibitor 3 4
  • PZ-Dependent Protease Inhibitor 3 4
  • Serpin A10 3 4
  • SERPINA10 5

External Ids for SERPINA10 Gene

Previous GeneCards Identifiers for SERPINA10 Gene

  • GC14M092256
  • GC14M088566
  • GC14M092739
  • GC14M093819
  • GC14M094749
  • GC14M074929

Summaries for SERPINA10 Gene

Entrez Gene Summary for SERPINA10 Gene

  • The protein encoded by this gene belongs to the serpin family. It is predominantly expressed in the liver and secreted in plasma. It inhibits the activity of coagulation factors Xa and XIa in the presence of protein Z, calcium and phospholipid. Mutations in this gene are associated with venous thrombosis. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, May 2010]

GeneCards Summary for SERPINA10 Gene

SERPINA10 (Serpin Family A Member 10) is a Protein Coding gene. Diseases associated with SERPINA10 include Thrombosis and Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities. Gene Ontology (GO) annotations related to this gene include heparin binding and serine-type endopeptidase inhibitor activity. An important paralog of this gene is SERPINA3.

UniProtKB/Swiss-Prot Summary for SERPINA10 Gene

  • Inhibits activity of the coagulation protease factor Xa in the presence of PROZ, calcium and phospholipids. Also inhibits factor XIa in the absence of cofactors.

Additional gene information for SERPINA10 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SERPINA10 Gene

Genomics for SERPINA10 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for SERPINA10 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH14J094292 Promoter/Enhancer 1.2 EPDnew ENCODE 250.7 +0.2 165 1.1 CEBPA HOMEZ KDM6A THAP11 FOXA2 ZNF511 SMAD4 SAP130 REST RXRA HSALNG0103359 SERPINA10 BTBD7 DICER1 ENSG00000256357 PPP4R4
GH14J094290 Promoter 0.3 EPDnew 250.7 +2.8 2755 0.1 SERPINA10 ENSG00000256357 HSALNG0103359 HSALNG0103358 PPP4R4
GH14J094597 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 38 -306.9 -306851 6.1 MXD4 CEBPA FOXA1 ZFP64 ZNF217 CTCF HOMEZ KDM6A THAP11 CEBPB ENSG00000288028 HSALNG0103378 LOC112268127 SERPINA10 SERPINA3 SERPINA1 SERPINA5 SERPINA6 SERPINA11 SCARNA13
GH14J094593 Enhancer 1.3 FANTOM5 Ensembl ENCODE 16.7 -300.8 -300819 1.7 MXD4 CEBPA FOXA1 ZFP64 HOMEZ KDM6A THAP11 FOXA2 ZNF511 MAFF lnc-SERPINA12-2 SERPINA5 SERPINA1 SERPINA6 SERPINA11 SERPINA10 SERPINA3 SERPINA4 SNHG10 DDX24
GH14J094281 Enhancer 0.2 FANTOM5 33.5 +11.3 11326 0.3 HSALNG0103358 SERPINA6 SERPINA10 SERPINA3 SERPINA11 SERPINA1 SERPINA4 ENSG00000256357 PPP4R4 SERPINA5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SERPINA10 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SERPINA10

Top Transcription factor binding sites by QIAGEN in the SERPINA10 gene promoter:
  • Bach2
  • HOXA9
  • HOXA9B
  • Meis-1
  • STAT3

Genomic Locations for SERPINA10 Gene

Latest Assembly
chr14:94,280,460-94,293,353
(GRCh38/hg38)
Size:
12,894 bases
Orientation:
Minus strand

Previous Assembly
chr14:94,746,797-94,759,605
(GRCh37/hg19 by Entrez Gene)
Size:
12,809 bases
Orientation:
Minus strand

chr14:94,749,650-94,759,608
(GRCh37/hg19 by Ensembl)
Size:
9,959 bases
Orientation:
Minus strand

Genomic View for SERPINA10 Gene

Genes around SERPINA10 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SERPINA10 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SERPINA10 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for SERPINA10 Gene

Proteins for SERPINA10 Gene

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  • Protein details for SERPINA10 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UK55-ZPI_HUMAN
    Recommended name:
    Protein Z-dependent protease inhibitor
    Protein Accession:
    Q9UK55
    Secondary Accessions:
    • A5Z2A5
    • Q6UWX9
    • Q86U20

    Protein attributes for SERPINA10 Gene

    Size:
    444 amino acids
    Molecular mass:
    50707 Da
    Quaternary structure:
    • Interacts with PROZ.
    SequenceCaution:
    • Sequence=CAD62339.1; Type=Erroneous initiation; Evidence={ECO:0000305};
    Miscellaneous:
    • Heparin acts as an important cofactor, producing 20 to 100-fold accelerations of SERPINA10 reactions with factor Xa and factor XIa.

    Three dimensional structures from OCA and Proteopedia for SERPINA10 Gene

neXtProt entry for SERPINA10 Gene

Protein Expression for SERPINA10 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for SERPINA10 Gene

  • Phosphorylated by FAM20C in the extracellular medium.
  • Glycosylation at Asn36, Asn180, Asn197, and Asn295
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for SERPINA10 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SERPINA10 Gene

Domains & Families for SERPINA10 Gene

Gene Families for SERPINA10 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for SERPINA10 Gene

InterPro:
Blocks:
  • Serpin
ProtoNet:

Suggested Antigen Peptide Sequences for SERPINA10 Gene

GenScript: Design optimal peptide antigens:
  • Serpin A10 (ZPI_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UK55

UniProtKB/Swiss-Prot:

ZPI_HUMAN :
  • Belongs to the serpin family.
Family:
  • Belongs to the serpin family.
genes like me logo Genes that share domains with SERPINA10: view

Function for SERPINA10 Gene

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  6. Cell Lines for research

Molecular function for SERPINA10 Gene

UniProtKB/Swiss-Prot Function:
Inhibits activity of the coagulation protease factor Xa in the presence of PROZ, calcium and phospholipids. Also inhibits factor XIa in the absence of cofactors.

Phenotypes From GWAS Catalog for SERPINA10 Gene

Gene Ontology (GO) - Molecular Function for SERPINA10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004867 serine-type endopeptidase inhibitor activity TAS,IBA 21873635
GO:0005515 protein binding IPI 20427285
GO:0008201 heparin binding IEA --
GO:0030414 peptidase inhibitor activity IEA --
genes like me logo Genes that share ontologies with SERPINA10: view
genes like me logo Genes that share phenotypes with SERPINA10: view

Animal Models for SERPINA10 Gene

MGI Knock Outs for SERPINA10:

Animal Models for research

  • Taconic Biosciences Mouse Models for SERPINA10

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SERPINA10

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for SERPINA10 Gene

Localization for SERPINA10 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SERPINA10 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SERPINA10 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4
nucleus 2
cytosol 2
plasma membrane 1
cytoskeleton 1
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SERPINA10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IBA 21873635
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0070062 extracellular exosome HDA 23533145
genes like me logo Genes that share ontologies with SERPINA10: view

Pathways & Interactions for SERPINA10 Gene

PathCards logo

SuperPathways for SERPINA10 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SERPINA10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007596 blood coagulation IEA --
GO:0007599 hemostasis IEA --
GO:0010466 negative regulation of peptidase activity IEA --
GO:0010951 negative regulation of endopeptidase activity IBA 21873635
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with SERPINA10: view

No data available for Pathways by source and SIGNOR curated interactions for SERPINA10 Gene

Drugs & Compounds for SERPINA10 Gene

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(4) Drugs for SERPINA10 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 6876

(1) Additional Compounds for SERPINA10 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SERPINA10: view

Transcripts for SERPINA10 Gene

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mRNA/cDNA for SERPINA10 Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SERPINA10

Alternative Splicing Database (ASD) splice patterns (SP) for SERPINA10 Gene

No ASD Table

Relevant External Links for SERPINA10 Gene

GeneLoc Exon Structure for
SERPINA10

Expression for SERPINA10 Gene

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  1. Primer products for research
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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SERPINA10 Gene

mRNA expression in normal human tissues for SERPINA10 Gene
mRNA expression by BioGPS for SERPINA10 GenemRNA expression by GTEx for SERPINA10 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SERPINA10 Gene

This gene is overexpressed in Liver (x52.2).

Protein differential expression in normal tissues from HIPED for SERPINA10 Gene

This gene is overexpressed in Serum (41.3) and Plasma (19.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SERPINA10 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SERPINA10

SOURCE GeneReport for Unigene cluster for SERPINA10 Gene:

Hs.118620

mRNA Expression by UniProt/SwissProt for SERPINA10 Gene:

Q9UK55-ZPI_HUMAN
Tissue specificity: Expressed by the liver and secreted in plasma.

Evidence on tissue expression from TISSUES for SERPINA10 Gene

  • Liver(4.7)
  • Bone marrow(4)
  • Blood(2.1)
genes like me logo Genes that share expression patterns with SERPINA10: view

Primer products for research

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SERPINA10 Gene

Orthologs for SERPINA10 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SERPINA10 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia SERPINA10 30 31
  • 98.95 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia SERPINA10 30 31
  • 79.43 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Serpina10 30
  • 77.94 (n)
Mouse
(Mus musculus)
 Mammalia Serpina10 30 17 31
  • 77.52 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia SERPINA10 31
  • 60 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia SERPINA10 31
  • 47 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia -- 31
  • 22 (a)
 ManyToMany
Chicken
(Gallus gallus)
 Aves SERPINA10 30 31
  • 61.79 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia SERPINA10 31
  • 50 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia serpina10 30
  • 56.63 (n)
Str.11971 30
Zebrafish
(Danio rerio)
 Actinopterygii serpina10a 30 31
  • 49.63 (n)
 OneToOne
Species where no ortholog for SERPINA10 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for SERPINA10 Gene

ENSEMBL:
Gene Tree for SERPINA10 (if available)
TreeFam:
Gene Tree for SERPINA10 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SERPINA10: view image

Paralogs for SERPINA10 Gene

Paralogs for SERPINA10 Gene

(30) SIMAP similar genes for SERPINA10 Gene using alignment to 2 proteins:

  • ZPI_HUMAN
  • G3V2W1_HUMAN
genes like me logo Genes that share paralogs with SERPINA10: view

Variants for SERPINA10 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SERPINA10 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
979156 Likely Benign: Nephrotic syndrome, type 5, with or without ocular abnormalities 94,290,332(-) G/A
NM_001100607.3(SERPINA10):c.262C>T (p.Arg88Ter) 		NONSENSE
rs61754487 Uncertain Significance: Venous thrombosis, susceptibility to 94,288,306(-) C/T
NM_001100607.3(SERPINA10):c.972G>A (p.Trp324Ter) 		NONSENSE
rs2232699 - p.Leu158Gln
rs2232700 - p.Thr161Ser
rs2232701 - p.Arg196His

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SERPINA10 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SERPINA10 Gene

Variant ID Type Subtype PubMed ID
esv3635377 CNV gain 21293372
nsv470659 CNV gain 18288195
nsv832862 CNV gain 17160897

Variation tolerance for SERPINA10 Gene

Residual Variation Intolerance Score: 92.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.93; 59.56% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SERPINA10 Gene

Human Gene Mutation Database (HGMD)
SERPINA10
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SERPINA10

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SERPINA10 Gene

Disorders for SERPINA10 Gene

MalaCards: The human disease database

(6) MalaCards diseases for SERPINA10 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
thrombosis
  • thrombosis of blood vessel
nephrotic syndrome, type 5, with or without ocular abnormalities
  • nphs5
protein z deficiency
thrombophilia
  • hypercoagulability state
shwartzman phenomenon
  • shwartzman reaction
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SERPINA10

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SERPINA10: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SERPINA10 Gene

Publications for SERPINA10 Gene

  1. The protein Z-dependent protease inhibitor is a serpin. (PMID: 10460162) Han X … Broze GJ (Biochemistry 1999) 2 3 4 23
  2. Isolation of a protein Z-dependent plasma protease inhibitor. (PMID: 9689066) Han X … Broze GJ (Proceedings of the National Academy of Sciences of the United States of America 1998) 2 3 4 23
  3. Polymorphisms of the Z protein protease inhibitor and risk of venous thromboembolism: a meta-analysis. (PMID: 18710385) Dentali F … Ageno W (British journal of haematology 2008) 3 23 41
  4. A nonsense polymorphism in the protein Z-dependent protease inhibitor increases the risk for venous thrombosis. (PMID: 16527896) Corral J … Vicente V (Blood 2006) 3 23 41
  5. Characterization of the protein Z-dependent protease inhibitor. (PMID: 11049983) Han X … Broze GJ (Blood 2000) 3 4 23

ExternalLinks

View latest publications for SERPINA10 gene in Mastermind

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