The protein encoded by this gene is a member of the serpin family of serine protease inhibitors. The encoded protein inhibits the activity of cathepsin K and is itself transcriptionally repressed by RUNX1. This gene is downregulated in many types of cancer. [provided by RefSeq, Jan 2017] See more...

Aliases for SERPINB13 Gene

Aliases for SERPINB13 Gene

  • Serpin Family B Member 13 2 3 5
  • Headpin 2 3 4
  • Serine (Or Cysteine) Proteinase Inhibitor, Clade B (Ovalbumin), Member 13 2 3
  • Serpin Peptidase Inhibitor, Clade B (Ovalbumin), Member 13 2 3
  • HaCaT UV-Repressible Serpin 3 4
  • Proteinase Inhibitor 13 3 4
  • Peptidase Inhibitor 13 3 4
  • Serpin B13 3 4
  • Hurpin 2 4
  • PI-13 3 4
  • HUR7 2 3
  • PI13 3 4
  • Protease Inhibitor 13 (Hurpin, Headpin) 3
  • UV-B Repressed Sequence, HUR 7 3
  • HSHUR7SEQ 3
  • SERPINB13 5
  • HURPIN 3

External Ids for SERPINB13 Gene

Previous HGNC Symbols for SERPINB13 Gene

  • PI13

Previous GeneCards Identifiers for SERPINB13 Gene

  • GC18P061093
  • GC18P061227
  • GC18P059403
  • GC18P059296
  • GC18P059405
  • GC18P057954

Summaries for SERPINB13 Gene

Entrez Gene Summary for SERPINB13 Gene

  • The protein encoded by this gene is a member of the serpin family of serine protease inhibitors. The encoded protein inhibits the activity of cathepsin K and is itself transcriptionally repressed by RUNX1. This gene is downregulated in many types of cancer. [provided by RefSeq, Jan 2017]

GeneCards Summary for SERPINB13 Gene

SERPINB13 (Serpin Family B Member 13) is a Protein Coding gene. Diseases associated with SERPINB13 include Cardiomyopathy, Dilated, 1O and Psoriasis. Among its related pathways are Amoebiasis. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase inhibitor activity and cysteine-type endopeptidase inhibitor activity. An important paralog of this gene is SERPINB4.

UniProtKB/Swiss-Prot Summary for SERPINB13 Gene

  • May play a role in the proliferation or differentiation of keratinocytes.

Gene Wiki entry for SERPINB13 Gene

Additional gene information for SERPINB13 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SERPINB13 Gene

Genomics for SERPINB13 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SERPINB13 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
GH18J063584 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 250.7 -0.4 -395 3.1 MAFF SPI1 MAFK KLF1 SERPINB13 SERPINB11 SERPINB12 hsa-miR-5095-249
GH18J063588 Enhancer 0.5 Ensembl 0.7 +3.5 3458 3 CEBPB SPI1 POLR2A MYC MAX SERPINB11 SERPINB12 SERPINB7 SERPINB10 SERPINB13 piR-38351-233 SERPINB4
GH18J063578 Enhancer 0.5 Ensembl 0.4 -7.0 -6953 3 CTCF TRIM22 SMC3 RAD21 YY1 SPI1 ZNF143 OVOL3 ZNF654 SERPINB11 SERPINB12 SERPINB13 hsa-miR-5095-249
GH18J063575 Enhancer 0.5 Ensembl 0.4 -10.6 -10553 1.8 CEBPB EP300 PRDM6 ZNF629 OSR2 SERPINB11 SERPINB12 SERPINB10 SERPINB13 hsa-miR-5095-249
GH18J063603 Enhancer 0.5 ENCODE 0.4 +17.8 17823 2.6 BCL11A IRF4 JUND BATF ATF2 JUNB USF1 ZFHX2 SERPINB11 HSALNG0122058 piR-38351-233 SERPINB13 SERPINB4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SERPINB13 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SERPINB13

Top Transcription factor binding sites by QIAGEN in the SERPINB13 gene promoter:
  • AML1a
  • c-Rel
  • FOXO1
  • FOXO1a
  • GCNF-1
  • GCNF-2
  • Gfi-1
  • Ik-3
  • TBP
  • TFIID

Genomic Locations for SERPINB13 Gene

Latest Assembly
chr18:63,586,654-63,604,639
(GRCh38/hg38)
Size:
17,986 bases
Orientation:
Plus strand

Previous Assembly
chr18:61,254,577-61,266,426
(GRCh37/hg19 by Entrez Gene)
Size:
11,850 bases
Orientation:
Plus strand

chr18:61,254,223-61,271,873
(GRCh37/hg19 by Ensembl)
Size:
17,651 bases
Orientation:
Plus strand

Genomic View for SERPINB13 Gene

Genes around SERPINB13 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SERPINB13 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SERPINB13 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SERPINB13 Gene

Proteins for SERPINB13 Gene

  • Protein details for SERPINB13 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UIV8-SPB13_HUMAN
    Recommended name:
    Serpin B13
    Protein Accession:
    Q9UIV8
    Secondary Accessions:
    • A8K2Q8
    • Q3MII2
    • Q9HCX1
    • Q9UBW1
    • Q9UKG0

    Protein attributes for SERPINB13 Gene

    Size:
    391 amino acids
    Molecular mass:
    44276 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SERPINB13 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SERPINB13 Gene

Post-translational modifications for SERPINB13 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibodies for research

  • Boster Bio Antibodies for SERPINB13

No data available for DME Specific Peptides for SERPINB13 Gene

Domains & Families for SERPINB13 Gene

Gene Families for SERPINB13 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for SERPINB13 Gene

Suggested Antigen Peptide Sequences for SERPINB13 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ94039, highly similar to Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 13 (SERPINB13), mRNA (A8K2Q8_HUMAN)
  • SERPINB13 protein (B7ZKV6_HUMAN)
  • Proteinase inhibitor 13 (SPB13_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UIV8

UniProtKB/Swiss-Prot:

SPB13_HUMAN :
  • Belongs to the serpin family. Ov-serpin subfamily.
Family:
  • Belongs to the serpin family. Ov-serpin subfamily.
genes like me logo Genes that share domains with SERPINB13: view

Function for SERPINB13 Gene

Molecular function for SERPINB13 Gene

UniProtKB/Swiss-Prot Function:
May play a role in the proliferation or differentiation of keratinocytes.

Phenotypes From GWAS Catalog for SERPINB13 Gene

Gene Ontology (GO) - Molecular Function for SERPINB13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IPI 12504904
GO:0004867 serine-type endopeptidase inhibitor activity NAS 10512713
GO:0004869 cysteine-type endopeptidase inhibitor activity IMP 12809493
GO:0005515 protein binding IPI 32296183
GO:0030414 peptidase inhibitor activity IEA --
genes like me logo Genes that share ontologies with SERPINB13: view
genes like me logo Genes that share phenotypes with SERPINB13: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SERPINB13

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SERPINB13 Gene

Localization for SERPINB13 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SERPINB13 Gene

Cytoplasm.

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 SERPINB13 gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 4
lysosome 4
mitochondrion 2
plasma membrane 1
cytoskeleton 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nuclear speckles (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SERPINB13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IEA,IBA 21873635
GO:0005654 nucleoplasm IDA 12809493
GO:0005730 NOT nucleolus IDA 12809493
GO:0005737 cytoplasm IEA,IDA 12809493
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with SERPINB13: view

Pathways & Interactions for SERPINB13 Gene

PathCards logo

SuperPathways for SERPINB13 Gene

SuperPathway Contained pathways
1 Amoebiasis
genes like me logo Genes that share pathways with SERPINB13: view

Pathways by source for SERPINB13 Gene

1 KEGG pathway for SERPINB13 Gene

Gene Ontology (GO) - Biological Process for SERPINB13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009411 response to UV TAS 9297979
GO:0010466 negative regulation of peptidase activity IEA --
GO:0010951 negative regulation of endopeptidase activity IDA 12504904
GO:0030162 regulation of proteolysis NAS 10512713
GO:0045616 regulation of keratinocyte differentiation TAS --
genes like me logo Genes that share ontologies with SERPINB13: view

No data available for SIGNOR curated interactions for SERPINB13 Gene

Drugs & Compounds for SERPINB13 Gene

(2) Drugs for SERPINB13 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for SERPINB13 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SERPINB13: view

Transcripts for SERPINB13 Gene

mRNA/cDNA for SERPINB13 Gene

6 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
6 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 SERPINB13

Alternative Splicing Database (ASD) splice patterns (SP) for SERPINB13 Gene

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

Relevant External Links for SERPINB13 Gene

GeneLoc Exon Structure for
SERPINB13

Expression for SERPINB13 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SERPINB13 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Lung (Respiratory System)

mRNA differential expression in normal tissues according to GTEx for SERPINB13 Gene

This gene is overexpressed in Esophagus - Mucosa (x20.5), Vagina (x15.8), Cervix - Ectocervix (x8.0), and Minor Salivary Gland (x5.2).

Protein differential expression in normal tissues from HIPED for SERPINB13 Gene

This gene is overexpressed in Oral epithelium (26.3), Cervix (13.1), Urine (11.3), and Saliva (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SERPINB13 Gene



Protein tissue co-expression partners for SERPINB13 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SERPINB13

SOURCE GeneReport for Unigene cluster for SERPINB13 Gene:

Hs.241407

mRNA Expression by UniProt/SwissProt for SERPINB13 Gene:

Q9UIV8-SPB13_HUMAN
Tissue specificity: Skin specific.

Evidence on tissue expression from TISSUES for SERPINB13 Gene

  • Skin(4.4)
genes like me logo Genes that share expression patterns with SERPINB13: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SERPINB13 Gene

Orthologs for SERPINB13 Gene

This gene was present in the common ancestor of animals.

Orthologs for SERPINB13 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SERPINB13 30 31
  • 99.23 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SERPINB13 30 31
  • 83.42 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Serpinb13 30 17 31
  • 80.12 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Serpinb13 30
  • 79.43 (n)
Cow
(Bos Taurus)
Mammalia SERPINB13 31
  • 73 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 48 (a)
ManyToMany
-- 31
  • 46 (a)
ManyToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 47 (a)
OneToMany
Chicken
(Gallus gallus)
Aves OVALY 31
  • 42 (a)
ManyToMany
SERPINB14 31
  • 37 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 45 (a)
ManyToMany
-- 31
  • 45 (a)
ManyToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG9460 32
  • 32 (a)
Spn1 32
  • 32 (a)
Spn3 32
  • 31 (a)
Spn5 32
  • 30 (a)
CG6687 32
  • 26 (a)
CG7722 32
  • 25 (a)
Spn43Ab 32
  • 25 (a)
Worm
(Caenorhabditis elegans)
Secernentea srp-6 32
  • 27 (a)
Species where no ortholog for SERPINB13 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)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Zebrafish (Danio rerio)

Evolution for SERPINB13 Gene

ENSEMBL:
Gene Tree for SERPINB13 (if available)
TreeFam:
Gene Tree for SERPINB13 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SERPINB13: view image

Paralogs for SERPINB13 Gene

genes like me logo Genes that share paralogs with SERPINB13: view

Variants for SERPINB13 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SERPINB13 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
rs61751997 Benign: not provided 63,589,679(+) G/A
NM_012397.4(SERPINB13):c.189G>A (p.Thr63=)
SYNONYMOUS_VARIANT,FIVE_PRIME_UTR
rs864622008 Uncertain Significance: Malignant tumor of prostate 63,597,080(+) C/T
NM_012397.4(SERPINB13):c.893C>T (p.Ala298Val)
MISSENSE
rs1020694 - p.Gly293Ser

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SERPINB13 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 SERPINB13 Gene

Variant ID Type Subtype PubMed ID
esv2717203 CNV deletion 23290073
esv2717204 CNV deletion 23290073
nsv1066552 CNV gain 25217958

Variation tolerance for SERPINB13 Gene

Residual Variation Intolerance Score: 79.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.25; 40.45% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SERPINB13 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SERPINB13

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SERPINB13 Gene

Disorders for SERPINB13 Gene

MalaCards: The human disease database

(5) MalaCards diseases for SERPINB13 Gene - From: COP and GCD

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SERPINB13

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 SERPINB13: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SERPINB13 Gene

Publications for SERPINB13 Gene

  1. Cloning and characterization of hurpin (protease inhibitor 13): A new skin-specific, UV-repressible serine proteinase inhibitor of the ovalbumin serpin family. (PMID: 10512713) Abts HF … Ruzicka T (Journal of molecular biology 1999) 2 3 4 23
  2. Sequence, organization, chromosomal localization, and alternative splicing of the human serine protease inhibitor gene hurpin (PI13) which is upregulated in psoriasis. (PMID: 11313015) Abts HF … Ruzicka T (DNA and cell biology 2001) 3 4 23
  3. Genomic cloning, mapping, structure and promoter analysis of HEADPIN, a serpin which is down-regulated in head and neck cancer cells. (PMID: 11004515) Nakashima T … Clayman GL (Biochimica et biophysica acta 2000) 3 4 23
  4. Identification and cDNA cloning of headpin, a novel differentially expressed serpin that maps to chromosome 18q. (PMID: 10527881) Spring P … Clayman G (Biochemical and biophysical research communications 1999) 3 4 23
  5. Update of the human and mouse SERPIN gene superfamily. (PMID: 24172014) Heit C … Vasiliou V (Human genomics 2013) 2 3

Products for SERPINB13 Gene

Sources for SERPINB13 Gene