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] See more...

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
  • Kunitz-Type Protease Inhibitor 1 3 4
  • MANSC2 2 3
  • HAI-1 3 4
  • HAI1 3 4
  • HAI 2 3
  • SPINT1 5

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. Diseases associated with SPINT1 include Prostate Cancer and Ovarian Cancer. Among its related pathways are Signaling by GPCR and Transcriptional misregulation in cancer. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase inhibitor activity. An important paralog of this gene is KIAA0319.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for SPINT1 Gene

Genomics for SPINT1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SPINT1 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
GH15J040842 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 253.6 +1.9 1883 6.1 MYC IKZF1 JUND POLR2A ZIC2 CTCF REST ETS1 BHLHE40 TBP SPINT1 SPINT1-AS1 PPP1R14D CCDC32 ZFYVE19 RHOV HSALNG0105299 MN298678-025
GH15J040927 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.3 +86.9 86922 6.5 EZH2 NCOR1 MYC ZNF600 NFIC POLR2A ZIC2 ZBTB10 MXD4 REST DLL4 SPINT1 NDUFAF1 DISP2 NUSAP1 HSALNG0105314 HSALNG0105315 HSALNG0105316 CHAC1
GH15J040791 Enhancer 1.2 Ensembl ENCODE dbSUPER 11.7 -49.4 -49417 6 IKZF1 JUND CEBPA ATF3 BRCA1 NFIC YY1 CEBPB FEZF1 HOMEZ ZFYVE19 RMDN3 CCDC32 C15orf62 SPINT1 GCHFR RAD51 RAD51-AS1 RHOV RPUSD2
GH15J040742 Promoter/Enhancer 1.3 Ensembl ENCODE 11.3 -98.1 -98094 7.4 ZNF654 MYC NCOR1 IKZF1 ZNF600 ZNF592 ZNF10 NFIC ZIC2 YY1 HSALNG0105282 CCDC32 RAD51 C15orf62 ZFYVE19 DNAJC17 RAD51-AS1 SPINT1 RHOV VPS18
GH15J040935 Enhancer 1.2 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.2 +93.7 93682 2.6 ZIC2 CEBPB CTCF ZNF217 RXRA RAD21 RFX5 SMC3 DMAP1 EBF1 HSALNG0105316 SPINT1 CHAC1 HSALNG0105317 DLL4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SPINT1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SPINT1

Top Transcription factor binding sites by QIAGEN in the SPINT1 gene promoter:
  • PPAR-gamma2
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT2
  • STAT3

Genomic Locations for SPINT1 Gene

Latest Assembly
chr15:40,844,018-40,858,207
(GRCh38/hg38)
Size:
14,190 bases
Orientation:
Plus strand

Previous Assembly
chr15:41,136,246-41,150,405
(GRCh37/hg19 by Entrez Gene)
Size:
14,160 bases
Orientation:
Plus strand

chr15:41,136,216-41,150,405
(GRCh37/hg19 by Ensembl)
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 Asn66, Asn235, and Asn523
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SPINT1 Gene

Domains & Families for SPINT1 Gene

Gene Families for SPINT1 Gene

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

Protein Domains for SPINT1 Gene

InterPro:
Blocks:
  • Low density lipoprotein-receptor, class A
  • Pancreatic trypsin inhibitor (Kunitz)
  • Seven cysteines, N-terminal

Suggested Antigen Peptide Sequences for SPINT1 Gene

GenScript: Design optimal peptide antigens:
  • Hepatocyte growth factor activator inhibitor type 1 (SPIT1_HUMAN)

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

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).

Phenotypes From GWAS Catalog for SPINT1 Gene

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:0005515 protein binding 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 Models for research

  • Taconic Biosciences Mouse Models for SPINT1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPINT1

Clone products for research

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
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (3)
  • Nucleoplasm (2)
See all subcellular structures

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 HDA 16502470
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA,TAS 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

1 GeneGo (Thomson Reuters) pathway for SPINT1 Gene
  • CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)

Gene Ontology (GO) - Biological Process for SPINT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001843 neural tube closure IEA --
GO:0001892 embryonic placenta development IEA --
GO:0010466 negative regulation of peptidase activity IEA --
GO:0010951 negative regulation of endopeptidase activity IEA --
GO:0030198 extracellular matrix organization 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

mRNA/cDNA for SPINT1 Gene

6 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
11 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 SPINT1

Clone products for research

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

Expression for SPINT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for SPINT1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SPINT1

SOURCE GeneReport for Unigene cluster for SPINT1 Gene:

Hs.233950

Evidence on tissue expression from TISSUES for SPINT1 Gene

  • Intestine(4.7)
  • Skin(2.8)
  • Kidney(2.7)
  • Lung(2.3)
  • Stomach(2.2)
  • Liver(2.1)
  • Pancreas(2)
genes like me logo Genes that share expression patterns with SPINT1: view

Primer products for research

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 29 30
  • 99.62 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SPINT1 29 30
  • 86.87 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SPINT1 29 30
  • 85.21 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Spint1 29 16 30
  • 82.25 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Spint1 29
  • 79.95 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia SPINT1 30
  • 61 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SPINT1 30
  • 60 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SPINT1 29 30
  • 65.08 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SPINT1 30
  • 50 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia spint1 29
  • 57.98 (n)
Zebrafish
(Danio rerio)
Actinopterygii spint1b 29 30
  • 51.44 (n)
OneToMany
spint1a 30
  • 35 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.3864 30
  • 19 (a)
OneToMany
Species where no ortholog for SPINT1 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)
  • 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SPINT1: view image
Alliance of Genome Resources:
Additional Orthologs for SPINT1

Paralogs for SPINT1 Gene

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

  • SPIT1_HUMAN
  • H3BMB6_HUMAN
  • H3BNW5_HUMAN
  • H3BR01_HUMAN
  • H3BSM2_HUMAN
  • H3BTQ8_HUMAN
  • H3BVD9_HUMAN
genes like me logo Genes that share paralogs with SPINT1: view

Variants for SPINT1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SPINT1 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
rs115016208 Benign: not provided 40,854,666(+) G/A
NM_181642.3(SPINT1):c.1142G>A (p.Arg381His)
MISSENSE
rs142240169 Benign: not provided 40,856,790(+) G/A
NM_181642.3(SPINT1):c.1405G>A (p.Ala469Thr)
MISSENSE
rs7165897 Benign: not provided 40,854,418(+) C/Tp.Pro337Leu
NM_181642.3(SPINT1):c.1010C>T (p.Pro337Leu)
MISSENSE
rs11549915 -- p.Tyr123Cys
rs12323939 -- p.Thr142Arg

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SPINT1 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 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)

Additional Variant Information for SPINT1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPINT1
Leiden Open Variation Database (LOVD)
SPINT1

SNP Genotyping and Copy Number Assays for research

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

Disorders for SPINT1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SPINT1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
prostate cancer
  • prostate cancer, somatic
ovarian cancer
  • ovarian cancer, somatic
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SPINT1

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 SPINT1: view

No data available for 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 JM … Mannermaa A (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2010) 3 40
  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 (Applied immunohistochemistry & molecular morphology : AIMM 2009) 3 22
  3. Expression of hepatocyte growth factor activator inhibitors (HAI-1 and HAI-2) in ovarian cancer. (PMID: 19148468) Nakamura K … Hiramatsu Y (International journal of oncology 2009) 3 22
  4. The role of hepatocyte growth factor activator inhibitor-1 (HAI-1) as a prognostic indicator in cervical cancer. (PMID: 19578736) Nakamura K … Hiramatsu Y (International journal of oncology 2009) 3 22
  5. Polarized epithelial cells secrete matriptase as a consequence of zymogen activation and HAI-1-mediated inhibition. (PMID: 19535514) Wang JK … Lin CY (American journal of physiology. Cell physiology 2009) 3 22

Products for SPINT1 Gene

Sources for SPINT1 Gene