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Aliases for SPINT1 Gene

Aliases for SPINT1 Gene

  • Serine Peptidase Inhibitor, Kunitz Type 1 2 3 5
  • Hepatocyte Growth Factor Activator Inhibitor Type 1 3 4
  • Serine Protease Inhibitor, Kunitz Type 1 2 3
  • HAI-1 3 4
  • HAI1 3 4
  • Kunitz-Type Protease Inhibitor 1 3
  • MANSC2 3
  • HAI 3

External Ids for SPINT1 Gene

Previous GeneCards Identifiers for SPINT1 Gene

  • GC15P036503
  • GC15P034031
  • GC15P038715
  • GC15P038852
  • GC15P038923
  • GC15P041136
  • GC15P017956

Summaries for SPINT1 Gene

Entrez Gene Summary for SPINT1 Gene

  • The protein encoded by this gene is a member of the Kunitz family of serine protease inhibitors. The protein is a potent inhibitor specific for HGF activator and is thought to be involved in the regulation of the proteolytic activation of HGF in injured tissues. Alternative splicing results in multiple variants encoding different isoforms. [provided by RefSeq, Jul 2008]

GeneCards Summary for SPINT1 Gene

SPINT1 (Serine Peptidase Inhibitor, Kunitz Type 1) is a Protein Coding gene. Among its related pathways are MET promotes cell motility and Transcriptional misregulation in cancer. GO annotations related to this gene include serine-type endopeptidase inhibitor activity. An important paralog of this gene is WFIKKN1.

UniProtKB/Swiss-Prot for SPINT1 Gene

  • Inhibitor of HGF activator. Also acts as an inhibitor of matriptase (ST14).

Gene Wiki entry for SPINT1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPINT1 Gene

Genomics for SPINT1 Gene

Regulatory Elements for SPINT1 Gene

Enhancers for SPINT1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15G040927 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.2 +86.9 86923 6.5 PKNOX1 FOXA2 DMAP1 ZNF2 ZBTB7B ZNF143 FOS ZNF263 SP3 SP5 CHAC1 SPINT1 NDUFAF1 DISP2 DLL4 NUSAP1 GC15M040883
GH15G040791 1.5 Ensembl ENCODE dbSUPER 11.7 -49.6 -49581 5.2 FOXA2 ARID4B FEZF1 BRCA1 YY1 FOS PAF1 MIER2 PPARG KAT8 ZFYVE19 RMDN3 C15orf57 C15orf62 SPINT1 GCHFR RAD51 RAD51-AS1 RHOV RPUSD2
GH15G040785 1.3 Ensembl ENCODE dbSUPER 11.4 -56.5 -56505 4.4 NFIB RAD21 SCRT2 FOS PAF1 CEBPB ZNF398 REST ZNF217 MAFF ZFYVE19 C15orf57 RMDN3 GCHFR SPINT1 RAD51 RAD51-AS1 RHOV VPS18 ENSG00000251161
GH15G040909 1.3 Ensembl ENCODE dbSUPER 11.3 +66.7 66716 2.4 ELF3 ZNF48 RARA YY1 THAP11 CEBPB ZNF398 NR2F2 CEBPA ETV4 CHAC1 SPINT1 CHP1 EXD1 ZFYVE19 ENSG00000251161 DLL4
GH15G040937 1.4 Ensembl ENCODE dbSUPER 10.2 +93.9 93865 1.0 ATF1 PKNOX1 SLC30A9 ELK1 ZNF143 MXD4 ZNF592 ZNF579 MEF2D CREB3 SPINT1 GC15M040883 ISCA1P4
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SPINT1 on UCSC Golden Path with GeneCards custom track

Promoters for SPINT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000075566 482 1801 FOXA2 SIN3A NFXL1 ZNF2 EGR1 ZNF143 ZNF263 SP3 ZNF362 SP5

Genomic Location for SPINT1 Gene

Chromosome:
15
Start:
40,844,018 bp from pter
End:
40,858,207 bp from pter
Size:
14,190 bases
Orientation:
Plus strand

Genomic View for SPINT1 Gene

Genes around SPINT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPINT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPINT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPINT1 Gene

Proteins for SPINT1 Gene

  • Protein details for SPINT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43278-SPIT1_HUMAN
    Recommended name:
    Kunitz-type protease inhibitor 1
    Protein Accession:
    O43278
    Secondary Accessions:
    • Q7Z7D2

    Protein attributes for SPINT1 Gene

    Size:
    529 amino acids
    Molecular mass:
    58398 Da
    Quaternary structure:
    • Interacts with HGFAC.

    Three dimensional structures from OCA and Proteopedia for SPINT1 Gene

    Alternative splice isoforms for SPINT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SPINT1 Gene

Post-translational modifications for SPINT1 Gene

  • Glycosylation at isoforms=266, Asn235, and posLast=523523
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for SPINT1 Gene

Domains & Families for SPINT1 Gene

Suggested Antigen Peptide Sequences for SPINT1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O43278

UniProtKB/Swiss-Prot:

SPIT1_HUMAN :
  • This inhibitor contains two inhibitory domains.
Domain:
  • This inhibitor contains two inhibitory domains.
genes like me logo Genes that share domains with SPINT1: view

No data available for Gene Families for SPINT1 Gene

Function for SPINT1 Gene

Molecular function for SPINT1 Gene

UniProtKB/Swiss-Prot Function:
Inhibitor of HGF activator. Also acts as an inhibitor of matriptase (ST14).

Gene Ontology (GO) - Molecular Function for SPINT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004867 serine-type endopeptidase inhibitor activity IEA --
GO:0030414 peptidase inhibitor activity IEA --
genes like me logo Genes that share ontologies with SPINT1: view
genes like me logo Genes that share phenotypes with SPINT1: view

Animal Models for SPINT1 Gene

MGI Knock Outs for SPINT1:

Animal Model Products

  • Taconic Biosciences Mouse Models for SPINT1

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for SPINT1 Gene

Localization for SPINT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPINT1 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 SPINT1 gene
Compartment Confidence
extracellular 5
plasma membrane 4
cytosol 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for SPINT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS 9045658
GO:0005615 extracellular space IDA 16502470
GO:0005886 plasma membrane IEA --
GO:0016020 membrane TAS,IEA 9045658
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SPINT1: view

Pathways & Interactions for SPINT1 Gene

genes like me logo Genes that share pathways with SPINT1: view

Pathways by source for SPINT1 Gene

Gene Ontology (GO) - Biological Process for SPINT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001843 neural tube closure IEA --
GO:0010466 negative regulation of peptidase activity IEA --
GO:0010951 negative regulation of endopeptidase activity IEA --
GO:0030198 extracellular matrix organization IEA --
GO:0045687 positive regulation of glial cell differentiation IEA --
genes like me logo Genes that share ontologies with SPINT1: view

No data available for SIGNOR curated interactions for SPINT1 Gene

Drugs & Compounds for SPINT1 Gene

(4) Drugs for SPINT1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for SPINT1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SPINT1: view

Transcripts for SPINT1 Gene

Unigene Clusters for SPINT1 Gene

Serine peptidase inhibitor, Kunitz type 1:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for SPINT1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b · 10c ^ 11 ^ 12a · 12b · 12c
SP1: - - - - -
SP2: - - - -
SP3: - - - - -
SP4: - - - - -
SP5: -
SP6: - - -
SP7:
SP8:
SP9: -

Relevant External Links for SPINT1 Gene

GeneLoc Exon Structure for
SPINT1
ECgene alternative splicing isoforms for
SPINT1

Expression for SPINT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SPINT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SPINT1 Gene

This gene is overexpressed in Esophagus - Mucosa (x8.6), Minor Salivary Gland (x5.8), Skin - Sun Exposed (Lower leg) (x4.8), Skin - Not Sun Exposed (Suprapubic) (x4.4), and Colon - Transverse (x4.2).

Protein differential expression in normal tissues from HIPED for SPINT1 Gene

This gene is overexpressed in Amniocyte (22.8) and Cervix (22.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SPINT1 Gene



NURSA nuclear receptor signaling pathways regulating expression of SPINT1 Gene:

SPINT1

SOURCE GeneReport for Unigene cluster for SPINT1 Gene:

Hs.233950

Evidence on tissue expression from TISSUES for SPINT1 Gene

  • Intestine(4.7)
  • Skin(2.5)
  • Kidney(2.4)
genes like me logo Genes that share expression patterns with SPINT1: view

Primer Products

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SPINT1 Gene

Orthologs for SPINT1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SPINT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SPINT1 34 35
  • 99.62 (n)
dog
(Canis familiaris)
Mammalia SPINT1 34 35
  • 86.87 (n)
cow
(Bos Taurus)
Mammalia SPINT1 34 35
  • 85.21 (n)
mouse
(Mus musculus)
Mammalia Spint1 34 16 35
  • 82.25 (n)
rat
(Rattus norvegicus)
Mammalia Spint1 34
  • 79.95 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SPINT1 35
  • 61 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SPINT1 35
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves SPINT1 34 35
  • 65.08 (n)
lizard
(Anolis carolinensis)
Reptilia SPINT1 35
  • 50 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia spint1 34
  • 57.98 (n)
zebrafish
(Danio rerio)
Actinopterygii spint1b 34 35
  • 51.44 (n)
spint1a 35
  • 35 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3864 35
  • 19 (a)
OneToMany
Species where no ortholog for SPINT1 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)
  • 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 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 SPINT1 Gene

ENSEMBL:
Gene Tree for SPINT1 (if available)
TreeFam:
Gene Tree for SPINT1 (if available)

Paralogs for SPINT1 Gene

Paralogs for SPINT1 Gene

(5) SIMAP similar genes for SPINT1 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with SPINT1: view

Variants for SPINT1 Gene

Sequence variations from dbSNP and Humsavar for SPINT1 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs1000424602 -- 40,855,858(+) CATGG(A/G)CTCGC intron-variant
rs1000715250 -- 40,850,768(+) GCCCT(C/G)GACCG intron-variant
rs1000763462 -- 40,849,321(+) AGCTC(A/G)CTGCA intron-variant
rs1000876475 -- 40,844,418(+) CCGGC(C/T)GGCCC intron-variant, nc-transcript-variant, upstream-variant-2KB
rs1001036455 -- 40,854,467(+) CTGGA(G/T)TGTGA intron-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for SPINT1 Gene

Variant ID Type Subtype PubMed ID
nsv1054764 CNV gain 25217958
nsv569228 CNV loss 21841781

Variation tolerance for SPINT1 Gene

Residual Variation Intolerance Score: 80.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.15; 69.44% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SPINT1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPINT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPINT1 Gene

Disorders for SPINT1 Gene

Relevant External Links for SPINT1

Genetic Association Database (GAD)
SPINT1
Human Genome Epidemiology (HuGE) Navigator
SPINT1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SPINT1

No disorders were found for SPINT1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SPINT1 Gene

Publications for SPINT1 Gene

  1. ST14 gene variant and decreased matriptase protein expression predict poor breast cancer survival. (PMID: 20716618) Kauppinen J.M. … Mannermaa A. (Cancer Epidemiol. Biomarkers Prev. 2010) 3 46 64
  2. Expression of hepatocyte growth factor activator inhibitors (HAI-1 and HAI-2) in ovarian cancer. (PMID: 19148468) Nakamura K. … Hiramatsu Y. (Int. J. Oncol. 2009) 3 22 64
  3. Tissue injury alters the site of expression of hepatocyte growth factor activator inhibitor type 1 in bronchial epithelial cells. (PMID: 19222607) Tanaka H. … Kataoka H. (Hum. Cell 2009) 3 22 64
  4. Protein expression of matriptase and its cognate inhibitor HAI-1 in human prostate cancer: a tissue microarray and automated quantitative analysis. (PMID: 18813126) Warren M. … Huang W. (Appl. Immunohistochem. Mol. Morphol. 2009) 3 22 64
  5. Hepatocyte growth factor activator inhibitor type 1 regulates epithelial to mesenchymal transition through membrane-bound serine proteinases. (PMID: 19223533) Cheng H. … Kataoka H. (Cancer Res. 2009) 3 22 64

Products for SPINT1 Gene

Sources for SPINT1 Gene

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