Aliases for SERPINA4 Gene

Aliases for SERPINA4 Gene

  • Serpin Family A Member 4 2 3 5
  • Kallistatin 2 3 4
  • KST 2 3 4
  • Serine (Or Cysteine) Proteinase Inhibitor, Clade A (Alpha-1 Antiproteinase, Antitrypsin), Member 4 2 3
  • Serpin Peptidase Inhibitor, Clade A (Alpha-1 Antiproteinase, Antitrypsin), Member 4 2 3
  • Sserpin Family A Member 4 2 3
  • Peptidase Inhibitor 4 3 4
  • Kallikrein Inhibitor 3 4
  • Serpin A4 3 4
  • KLST 2 3
  • PI-4 3 4
  • KAL 2 3
  • PI4 3 4
  • Protease Inhibitor 4 (Kallistatin) 3
  • Testicular Secretory Protein Li 22 3
  • SERPINA4 5

External Ids for SERPINA4 Gene

Previous HGNC Symbols for SERPINA4 Gene

  • PI4

Previous GeneCards Identifiers for SERPINA4 Gene

  • GC14P092535
  • GC14P088844
  • GC14P093017
  • GC14P094097
  • GC14P095027
  • GC14P075208

Summaries for SERPINA4 Gene

GeneCards Summary for SERPINA4 Gene

SERPINA4 (Serpin Family A Member 4) is a Protein Coding gene. Diseases associated with SERPINA4 include Cerebral Hemisphere Lipoma and Corpus Callosum Lipoma. Among its related pathways are Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase inhibitor activity. An important paralog of this gene is SERPINA9.

UniProtKB/Swiss-Prot Summary for SERPINA4 Gene

  • Inhibits human amidolytic and kininogenase activities of tissue kallikrein. Inhibition is achieved by formation of an equimolar, heat- and SDS-stable complex between the inhibitor and the enzyme, and generation of a small C-terminal fragment of the inhibitor due to cleavage at the reactive site by tissue kallikrein.

Gene Wiki entry for SERPINA4 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SERPINA4 Gene

Genomics for SERPINA4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SERPINA4 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
GH14J094560 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 250.7 +0.0 20 2.2 ZMYM3 SAP130 DRAP1 KDM1A HNF4A HNF1A EGR1 POLR2A SP1 SERPINA5 SERPINA4 lnc-SERPINA12-1 SERPINA3 HSALNG0103377 ENSG00000273259
GH14J094563 Promoter 0.3 EPDnew 250.7 +2.5 2483 0.1 SERPINA4 SERPINA5 HSALNG0103377 ENSG00000273259
GH14J094597 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.3 +38.8 38762 6.1 ZNF600 SSRP1 JUND ATF2 CEBPA ATF3 YY1 MXD4 CEBPB FOXA1 ENSG00000288028 HSALNG0103378 LOC112268127 SERPINA10 SERPINA3 SERPINA1 SERPINA5 SERPINA6 SERPINA11 SCARNA13
GH14J094593 Enhancer 1.3 FANTOM5 Ensembl ENCODE 15.1 +32.7 32730 1.7 SSRP1 KLF9 CEBPA ATF3 YY1 MXD4 FOXA1 KLF11 ZFP64 HOMEZ lnc-SERPINA12-2 SERPINA5 SERPINA1 SERPINA6 SERPINA11 SERPINA10 SERPINA3 SERPINA4 SNHG10 DDX24
GH14J094539 Enhancer 0.8 Ensembl ENCODE 11.7 -21.0 -20950 1.8 SAP130 IRF4 CTCF EBF1 RAD21 PKNOX1 BATF RBPJ TFAP4 ELF3 SERPINA4 ENSG00000287668 lnc-SERPINA12-1 SERPINA12 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 SERPINA4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SERPINA4

Top Transcription factor binding sites by QIAGEN in the SERPINA4 gene promoter:
  • CREB
  • deltaCREB
  • HEN1
  • HSF1 (long)
  • HSF1short
  • HSF2
  • MZF-1
  • NF-1
  • NF-1/L

Genomic Locations for SERPINA4 Gene

Latest Assembly
chr14:94,561,442-94,569,913
(GRCh38/hg38)
Size:
8,472 bases
Orientation:
Plus strand

Previous Assembly
chr14:95,027,779-95,036,243
(GRCh37/hg19 by Entrez Gene)
Size:
8,465 bases
Orientation:
Plus strand

chr14:95,027,428-95,036,250
(GRCh37/hg19 by Ensembl)
Size:
8,823 bases
Orientation:
Plus strand

Genomic View for SERPINA4 Gene

Genes around SERPINA4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SERPINA4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SERPINA4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SERPINA4 Gene

Proteins for SERPINA4 Gene

  • Protein details for SERPINA4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P29622-KAIN_HUMAN
    Recommended name:
    Kallistatin
    Protein Accession:
    P29622
    Secondary Accessions:
    • Q53XB5
    • Q86TR9
    • Q96BZ5

    Protein attributes for SERPINA4 Gene

    Size:
    427 amino acids
    Molecular mass:
    48542 Da
    Quaternary structure:
    • Monomer and some homodimers.
    SequenceCaution:
    • Sequence=CAD66567.1; Type=Erroneous initiation; Evidence={ECO:0000305};
    Miscellaneous:
    • Heparin blocks kallistatin's complex formation with tissue kallikrein and abolishes its inhibitory effect on tissue kallikrein's activity.

    Three dimensional structures from OCA and Proteopedia for SERPINA4 Gene

neXtProt entry for SERPINA4 Gene

Post-translational modifications for SERPINA4 Gene

  • The N-terminus is blocked.
  • Glycosylation at Asn33, Asn108, Asn157, and Asn238
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for SERPINA4 Gene

No data available for DME Specific Peptides for SERPINA4 Gene

Domains & Families for SERPINA4 Gene

Gene Families for SERPINA4 Gene

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

Protein Domains for SERPINA4 Gene

Suggested Antigen Peptide Sequences for SERPINA4 Gene

GenScript: Design optimal peptide antigens:
  • Serpin A4 (KAIN_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P29622

UniProtKB/Swiss-Prot:

KAIN_HUMAN :
  • Belongs to the serpin family.
Family:
  • Belongs to the serpin family.
genes like me logo Genes that share domains with SERPINA4: view

Function for SERPINA4 Gene

Molecular function for SERPINA4 Gene

UniProtKB/Swiss-Prot Function:
Inhibits human amidolytic and kininogenase activities of tissue kallikrein. Inhibition is achieved by formation of an equimolar, heat- and SDS-stable complex between the inhibitor and the enzyme, and generation of a small C-terminal fragment of the inhibitor due to cleavage at the reactive site by tissue kallikrein.

Phenotypes From GWAS Catalog for SERPINA4 Gene

Gene Ontology (GO) - Molecular Function for SERPINA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004867 serine-type endopeptidase inhibitor activity TAS,IBA 21873635
GO:0030414 peptidase inhibitor activity IEA --
genes like me logo Genes that share ontologies with SERPINA4: view
genes like me logo Genes that share phenotypes with SERPINA4: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SERPINA4

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SERPINA4 Gene

Localization for SERPINA4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SERPINA4 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 SERPINA4 gene
Compartment Confidence
extracellular 5
plasma membrane 3
cytoskeleton 2
nucleus 2
endoplasmic reticulum 2
endosome 2
cytosol 2
lysosome 2
golgi apparatus 2
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SERPINA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region HDA,TAS --
GO:0005615 extracellular space IBA 21873635
GO:0031089 platelet dense granule lumen TAS --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with SERPINA4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SERPINA4 Gene

Pathways & Interactions for SERPINA4 Gene

genes like me logo Genes that share pathways with SERPINA4: view

Gene Ontology (GO) - Biological Process for SERPINA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002576 platelet degranulation TAS --
GO:0010466 negative regulation of peptidase activity IEA --
GO:0010951 negative regulation of endopeptidase activity IBA 21873635
genes like me logo Genes that share ontologies with SERPINA4: view

No data available for SIGNOR curated interactions for SERPINA4 Gene

Drugs & Compounds for SERPINA4 Gene

(7) Drugs for SERPINA4 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma Target 276
Zinc Approved, Investigational Pharma Target 1706
zinc acetate Approved, Investigational Pharma Target 0

(5) Additional Compounds for SERPINA4 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SERPINA4: view

Transcripts for SERPINA4 Gene

mRNA/cDNA for SERPINA4 Gene

3 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
3 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 SERPINA4

Alternative Splicing Database (ASD) splice patterns (SP) for SERPINA4 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5
SP1: - -
SP2:
SP3: -

Relevant External Links for SERPINA4 Gene

GeneLoc Exon Structure for
SERPINA4

Expression for SERPINA4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SERPINA4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SERPINA4 Gene

This gene is overexpressed in Liver (x31.4) and Pancreas (x18.1).

Protein differential expression in normal tissues from HIPED for SERPINA4 Gene

This gene is overexpressed in Serum (23.2), Synovial fluid (15.1), Plasma (9.9), and Monocytes (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SERPINA4 Gene



Protein tissue co-expression partners for SERPINA4 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SERPINA4

SOURCE GeneReport for Unigene cluster for SERPINA4 Gene:

Hs.719893

mRNA Expression by UniProt/SwissProt for SERPINA4 Gene:

P29622-KAIN_HUMAN
Tissue specificity: Expressed by the liver and secreted in plasma.

Evidence on tissue expression from TISSUES for SERPINA4 Gene

  • Intestine(4.4)
  • Bone marrow(4.2)
  • Liver(3.4)
  • Kidney(2.4)
  • Heart(2.4)
  • Blood(2.1)
  • Pancreas(2.1)
genes like me logo Genes that share expression patterns with SERPINA4: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SERPINA4 Gene

Orthologs for SERPINA4 Gene

This gene was present in the common ancestor of mammals.

Orthologs for SERPINA4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SERPINA4 29 30
  • 99.43 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SERPINA4 29 30
  • 79.07 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Serpina4 29
  • 67.99 (n)
Cow
(Bos Taurus)
Mammalia SERPINA4 30
  • 58 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SERPINA4 30
  • 52 (a)
OneToOne
Species where no ortholog for SERPINA4 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)
  • Chicken (Gallus gallus)
  • 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)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Mouse (Mus musculus)
  • Oppossum (Monodelphis domestica)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for SERPINA4 Gene

ENSEMBL:
Gene Tree for SERPINA4 (if available)
TreeFam:
Gene Tree for SERPINA4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SERPINA4: view image
Alliance of Genome Resources:
Additional Orthologs for SERPINA4

Paralogs for SERPINA4 Gene

Pseudogenes.org Pseudogenes for SERPINA4 Gene

genes like me logo Genes that share paralogs with SERPINA4: view

Variants for SERPINA4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SERPINA4 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
rs140563422 Benign: not provided 94,563,894(+) C/T
NM_006215.4(SERPINA4):c.412C>T (p.Arg138Cys)
MISSENSE
rs145967569 Benign: not provided 94,569,427(+) G/A
NM_006215.4(SERPINA4):c.1116G>A (p.Glu372=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SERPINA4 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 SERPINA4 Gene

Variant ID Type Subtype PubMed ID
esv3635384 CNV gain 21293372
nsv470662 CNV gain 18288195
nsv565623 CNV gain 21841781
nsv565625 CNV loss 21841781
nsv832865 CNV gain 17160897

Variation tolerance for SERPINA4 Gene

Residual Variation Intolerance Score: 46.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.69; 14.59% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SERPINA4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SERPINA4
Leiden Open Variation Database (LOVD)
SERPINA4

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SERPINA4 Gene

Disorders for SERPINA4 Gene

MalaCards: The human disease database

(3) MalaCards diseases for SERPINA4 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
cerebral hemisphere lipoma
  • lipoma of the cerebral hemisphere
corpus callosum lipoma
  • lipoma of the corpus callosum
inflammatory bowel disease
  • inflammatory bowel diseases
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SERPINA4

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 SERPINA4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SERPINA4 Gene

Publications for SERPINA4 Gene

  1. Kallistatin: a novel human serine proteinase inhibitor. Molecular cloning, tissue distribution, and expression in Escherichia coli. (PMID: 8227002) Chai KX … Chao L (The Journal of biological chemistry 1993) 2 3 4 22
  2. Molecular cloning, sequence analysis, and chromosomal localization of the human protease inhibitor 4 (kallistatin) gene (PI4). (PMID: 7835886) Chai KX … Chao L (Genomics 1994) 3 4 22
  3. Kallistatin: a novel human tissue kallikrein inhibitor. Purification, characterization, and reactive center sequence. (PMID: 1334488) Zhou GX … Chao J (The Journal of biological chemistry 1992) 3 4 22
  4. Update of the human and mouse SERPIN gene superfamily. (PMID: 24172014) Heit C … Vasiliou V (Human genomics 2013) 2 3
  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. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 40

Products for SERPINA4 Gene

Sources for SERPINA4 Gene