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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
  • 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 CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF) and Signaling by MST1. GO annotations related to this gene include serine-type endopeptidase inhibitor activity. An important paralog of this gene is TFPI.

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 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around SPINT1 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for SPINT1 Gene at MOPED

Post-translational modifications for SPINT1 Gene

  • Glycosylation at Asn 66, Asn 235, and Asn 523
  • Modification sites at PhosphoSitePlus

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.
  • Contains 2 BPTI/Kunitz inhibitor domains.
  • Contains 1 LDL-receptor class A domain.
  • Contains 1 MANSC domain.
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).
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

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for SPINT1 Gene COMPARTMENTS Subcellular localization image for SPINT1 gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytosol 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for SPINT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070062 extracellular exosome IDA 23376485
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

2 Reactome pathways for SPINT1 Gene
1 KEGG pathway for SPINT1 Gene
1 GeneGo (Thomson Reuters) pathway for SPINT1 Gene

Gene Ontology (GO) - Biological Process for SPINT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001892 embryonic placenta development IEA --
GO:0010951 negative regulation of endopeptidase activity 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:

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 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, MOPED, and MaxQB for SPINT1 Gene



SOURCE GeneReport for Unigene cluster for SPINT1 Gene Hs.233950

genes like me logo Genes that share expression patterns with SPINT1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia SPINT1 35
  • 85.21 (n)
  • 81.85 (a)
SPINT1 36
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SPINT1 35
  • 86.87 (n)
  • 84 (a)
SPINT1 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Spint1 35
  • 82.25 (n)
  • 80.67 (a)
Spint1 16
Spint1 36
  • 80 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SPINT1 35
  • 99.62 (n)
  • 100 (a)
SPINT1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Spint1 35
  • 79.95 (n)
  • 77.32 (a)
oppossum
(Monodelphis domestica)
Mammalia SPINT1 36
  • 60 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SPINT1 36
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves SPINT1 35
  • 65.08 (n)
  • 56.4 (a)
SPINT1 36
  • 48 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SPINT1 36
  • 50 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia spint1 35
  • 57.98 (n)
  • 50 (a)
zebrafish
(Danio rerio)
Actinopterygii spint1b 35
  • 51.44 (n)
  • 42.57 (a)
spint1a 36
  • 35 (a)
OneToMany
spint1b 36
  • 37 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3864 36
  • 19 (a)
OneToMany
Species with no ortholog for SPINT1:
  • 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
VAR_050065 -
VAR_050066 -
rs7165897 - 40,854,418(+) TCAGC(C/T)CACCC intron-variant, reference, missense
rs17649 -- 40,857,481(-) GAGGA(A/C/G/T)AGAGA utr-variant-3-prime
rs5812172 -- 40,852,662(+) TGTGT(-/GT)TTACT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv904101 CNV Loss 21882294
nsv904102 CNV Loss 21882294
dgv2360n71 CNV Loss 21882294
nsv904104 CNV Loss 21882294

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links 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 48 67
  2. 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 23
  3. 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 23
  4. 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 23
  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 23

Products for SPINT1 Gene

Sources for SPINT1 Gene

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