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Aliases for SPINK13 Gene

Aliases for SPINK13 Gene

  • Serine Peptidase Inhibitor, Kazal Type 13 (Putative) 2 3 5
  • Hepatitis B Virus DNA Polymerase Transactivated Serine Protease Inhibitor 3 4
  • Serine Protease Inhibitor Kazal-Type 5-Like 3 3 4
  • HBVDNAPTP1 3 4
  • HESPINTOR 3 4
  • SPINK5L3 3 4
  • Hepatitis B Virus DNA Polymerase Transactivated Human Serine Protease Inhibitor 3
  • Hepatitis B Virus (HBV) DNA Polymerase Transactivated Protein 1 3
  • Serine Protease Inhibitor Kazal-Type 13 3
  • LiESP6 3

External Ids for SPINK13 Gene

Previous GeneCards Identifiers for SPINK13 Gene

  • GC05P147648
  • GC05P142795

Summaries for SPINK13 Gene

GeneCards Summary for SPINK13 Gene

SPINK13 (Serine Peptidase Inhibitor, Kazal Type 13 (Putative)) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase inhibitor activity.

UniProtKB/Swiss-Prot for SPINK13 Gene

  • May be a serine protease inhibitor (By similarity). Essential for sperm maturation and fertility. Inhibits sperm acrosome reaction, protecting sperm from premature reaction (By similarity).

Additional gene information for SPINK13 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPINK13 Gene

Genomics for SPINK13 Gene

GeneHancer (GH) Regulatory Elements for SPINK13 Gene

Promoters and enhancers for SPINK13 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
GH05I148267 Promoter/Enhancer 1.1 EPDnew ENCODE 550.8 +0.3 290 1.5 FOXA2 ZNF189 JUN ZFP37 CEBPB JUND MAFF ZNF341 FOS SPINK13 PGBD4P3 LOC102546294
GH05I148266 Enhancer 0.2 FANTOM5 550.8 -1.6 -1568 0.1 SPINK13 MARCOL
GH05I148223 Enhancer 0.8 FANTOM5 ENCODE 11.8 -43.8 -43774 1.2 SP3 JUN CEBPB EP300 RFX5 HIC1 JUND ZNF366 POLR2A STAT3 SPINK6 SPINK13 SPINK7 MARCOL
GH05I148205 Enhancer 0.9 FANTOM5 Ensembl 9.7 -62.6 -62624 0.5 RXRA MAX REST GABPA YY1 JUND HNF4G HNF4A ZBTB33 SPINK7 SPINK14 SPINK9 SPINK13 FBXO38 SPINK6 HMGN1P16
GH05I148237 Enhancer 0.7 ENCODE 11.5 -30.2 -30166 1.5 ZBTB21 INSM2 MAX FEZF1 BRCA1 RFX5 ZEB1 HIC1 ZNF366 SCRT2 SPINK6 SPINK13 SPINK7 SPINK9 MARCOL
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SPINK13 on UCSC Golden Path with GeneCards custom track

Genomic Locations for SPINK13 Gene

Genomic Locations for SPINK13 Gene
chr5:148,268,180-148,286,254
(GRCh38/hg38)
Size:
18,075 bases
Orientation:
Plus strand
chr5:147,647,743-147,665,817
(GRCh37/hg19)

Genomic View for SPINK13 Gene

Genes around SPINK13 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPINK13 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPINK13 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPINK13 Gene

Proteins for SPINK13 Gene

  • Protein details for SPINK13 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q1W4C9-ISK13_HUMAN
    Recommended name:
    Serine protease inhibitor Kazal-type 13
    Protein Accession:
    Q1W4C9
    Secondary Accessions:
    • A1A4Y2

    Protein attributes for SPINK13 Gene

    Size:
    94 amino acids
    Molecular mass:
    11051 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SPINK13 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SPINK13 Gene

Post-translational modifications for SPINK13 Gene

  • Glycosylation at isoforms=255
  • Modification sites at PhosphoSitePlus

Other Protein References for SPINK13 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SPINK13 Gene

Domains & Families for SPINK13 Gene

Gene Families for SPINK13 Gene

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

Protein Domains for SPINK13 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SPINK13 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SPINK13: view

No data available for UniProtKB/Swiss-Prot for SPINK13 Gene

Function for SPINK13 Gene

Molecular function for SPINK13 Gene

UniProtKB/Swiss-Prot Function:
May be a serine protease inhibitor (By similarity). Essential for sperm maturation and fertility. Inhibits sperm acrosome reaction, protecting sperm from premature reaction (By similarity).

Gene Ontology (GO) - Molecular Function for SPINK13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004867 serine-type endopeptidase inhibitor activity IBA --
GO:0030414 peptidase inhibitor activity IEA --
genes like me logo Genes that share ontologies with SPINK13: view

Phenotypes for SPINK13 Gene

genes like me logo Genes that share phenotypes with SPINK13: view

Animal Model Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SPINK13 Gene

Localization for SPINK13 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPINK13 Gene

Secreted. Note=Secreted into the lumen of the initial segment of the epididymis and binds to sperm. In the initial segment of epididymis, localizes on the dorsal surface of the acrosomal region of sperm, gradually becomes more restricted to the acrosomal region in spermatozoa during epididymal transit (By similarity). {ECO:0000250}.

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 SPINK13 gene
Compartment Confidence
extracellular 5

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleus (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SPINK13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001669 acrosomal vesicle IBA --
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IBA --
genes like me logo Genes that share ontologies with SPINK13: view

Pathways & Interactions for SPINK13 Gene

SuperPathways for SPINK13 Gene

No Data Available

Interacting Proteins for SPINK13 Gene

Selected Interacting proteins: Q1W4C9-ISK13_HUMAN for SPINK13 Gene via IID

Gene Ontology (GO) - Biological Process for SPINK13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010466 negative regulation of peptidase activity IEA --
GO:0060046 regulation of acrosome reaction IBA --
GO:1900004 negative regulation of serine-type endopeptidase activity IBA --
GO:1902225 negative regulation of acrosome reaction ISS --
genes like me logo Genes that share ontologies with SPINK13: view

No data available for Pathways by source and SIGNOR curated interactions for SPINK13 Gene

Drugs & Compounds for SPINK13 Gene

No Compound Related Data Available

Transcripts for SPINK13 Gene

mRNA/cDNA for SPINK13 Gene

(1) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(4) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SPINK13 Gene

Serine peptidase inhibitor, Kazal type 13 (putative):
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SPINK13 Gene

No ASD Table

Relevant External Links for SPINK13 Gene

GeneLoc Exon Structure for
SPINK13
ECgene alternative splicing isoforms for
SPINK13

Expression for SPINK13 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SPINK13 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SPINK13 Gene

This gene is overexpressed in Artery - Tibial (x4.3) and Artery - Coronary (x4.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SPINK13 Gene



NURSA nuclear receptor signaling pathways regulating expression of SPINK13 Gene:

SPINK13

SOURCE GeneReport for Unigene cluster for SPINK13 Gene:

Hs.483771
genes like me logo Genes that share expression patterns with SPINK13: view

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for SPINK13 Gene

Orthologs for SPINK13 Gene

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

Orthologs for SPINK13 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SPINK13 33 34
  • 99.29 (n)
mouse
(Mus musculus)
Mammalia Spink13 33 16 34
  • 70.41 (n)
rat
(Rattus norvegicus)
Mammalia Spink13 33
  • 69.18 (n)
Species where no ortholog for SPINK13 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (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 SPINK13 Gene

ENSEMBL:
Gene Tree for SPINK13 (if available)
TreeFam:
Gene Tree for SPINK13 (if available)

Paralogs for SPINK13 Gene

(5) SIMAP similar genes for SPINK13 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with SPINK13: view

No data available for Paralogs for SPINK13 Gene

Variants for SPINK13 Gene

Sequence variations from dbSNP and Humsavar for SPINK13 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1000064734 -- 148,282,744(+) C/T intron_variant
rs1000320367 -- 148,276,346(+) T/C intron_variant
rs1000338907 -- 148,274,561(+) A/T intron_variant
rs1000494825 -- 148,280,454(+) T/A intron_variant
rs1000544760 -- 148,278,596(+) A/C/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SPINK13 Gene

Variant ID Type Subtype PubMed ID
dgv10111n54 CNV gain 21841781
dgv726n27 CNV gain 19166990
esv3607102 CNV loss 21293372
esv3607106 CNV loss 21293372
esv3607107 CNV gain 21293372
nsv599945 CNV loss 21841781

Variation tolerance for SPINK13 Gene

Residual Variation Intolerance Score: 54.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.08; 1.89% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SPINK13 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPINK13

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPINK13 Gene

Disorders for SPINK13 Gene

Additional Disease Information for SPINK13

No disorders were found for SPINK13 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SPINK13 Gene

Publications for SPINK13 Gene

  1. Spink13, an epididymis-specific gene of the Kazal-type serine protease inhibitor (SPINK) family, is essential for the acrosomal integrity and male fertility. (PMID: 23430248) Ma L … Zhang Y (The Journal of biological chemistry 2013) 2 3 58
  2. Transcriptome analysis of a cDNA library from adult human epididymis. (PMID: 18390568) Li JY … Zhang YL (DNA research : an international journal for rapid publication of reports on genes and genomes 2008) 3 58
  3. Genome-wide association with select biomarker traits in the Framingham Heart Study. (PMID: 17903293) Benjamin EJ … Vasan RS (BMC medical genetics 2007) 44 58
  4. Genome-wide association with bone mass and geometry in the Framingham Heart Study. (PMID: 17903296) Kiel DP … Karasik D (BMC medical genetics 2007) 44 58
  5. Framingham Heart Study genome-wide association: results for pulmonary function measures. (PMID: 17903307) Wilk JB … O'Connor GT (BMC medical genetics 2007) 44 58

Products for SPINK13 Gene

Sources for SPINK13 Gene

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