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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SPINT1 Gene

protein-coding   GIFtS: 60
GCID: GC15P041136

Serine Peptidase Inhibitor, Kunitz Type 1

(Previous names: serine protease inhibitor, Kunitz type 1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Serine Peptidase Inhibitor, Kunitz Type 11 2     HAI12 3
Serine Protease Inhibitor, Kunitz Type 11 2     HAI2
Hepatocyte Growth Factor Activator Inhibitor Type 12 3     MANSC22
HAI-12 3     Kunitz-Type Protease Inhibitor 12

External Ids:    HGNC: 112461   Entrez Gene: 66922   Ensembl: ENSG000001661457   OMIM: 6051235   UniProtKB: O432783   

Export aliases for SPINT1 gene to outside databases

Previous GC identifers: GC15P036503 GC15P034031 GC15P038715 GC15P038852 GC15P038923 GC15P017956


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 adenocarcinoma, and idiopathic pulmonary fibrosis. GO annotations related to this gene include serine-type endopeptidase inhibitor activity. An important paralog of this gene is SPINT2.

UniProtKB/Swiss-Prot: SPIT1_HUMAN, O43278
Function: Inhibitor of HGF activator. Also acts as an inhibitor of matriptase (ST14)

Gene Wiki entry for SPINT1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NC_018926.2  NT_010194.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SPINT1 gene promoter:
         STAT1   STAT2   STAT1beta   STAT3   PPAR-gamma2   STAT1alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSPINT1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SPINT1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SPINT1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q15.1   Ensembl cytogenetic band:  15q15.1   HGNC cytogenetic band: 15q13.3

SPINT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPINT1 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P041136:  view genomic region     (about GC identifiers)

Start:
41,136,216 bp from pter      End:
41,150,405 bp from pter
Size:
14,190 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SPIT1_HUMAN, O43278 (See protein sequence)
Recommended Name: Kunitz-type protease inhibitor 1 precursor  
Size: 529 amino acids; 58398 Da
Subunit: Interacts with HGFAC
Subcellular location: Secreted
4 PDB 3D structures from and Proteopedia for SPINT1:
1YC0 (3D)        4ISL (3D)        4ISN (3D)        4ISO (3D)    
Secondary accessions: Q7Z7D2
Alternative splicing: 2 isoforms:  O43278-1   O43278-2   

Explore the universe of human proteins at neXtProt for SPINT1: NX_O43278

Explore proteomics data for SPINT1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O43278

  • SPINT1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SPINT1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001027539.1  NP_003701.1  NP_857593.1  

    ENSEMBL proteins: 
     ENSP00000457076   ENSP00000342098   ENSP00000456769   ENSP00000457284   ENSP00000458074  
     ENSP00000456015   ENSP00000454315   ENSP00000455038   ENSP00000409935  

    Human Recombinant Protein Products for SPINT1: 
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    OriGene Purified Proteins for SPINT1
    OriGene Protein Over-expression Lysate for SPINT1
    OriGene MassSpec for SPINT1 
    OriGene Custom Protein Services for SPINT1
    GenScript Custom Purified and Recombinant Proteins Services for SPINT1
    Novus Biologicals SPINT1 Proteins
    Novus Biologicals SPINT1 Lysates
    Sino Biological Recombinant Protein for SPINT1
    Sino Biological Cell Lysate for SPINT1 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SPINT1 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0016020membrane TAS9045658

    SPINT1 for ontologies           About GeneDecksing



    SPINT1 Antibody Products: 
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    Assay Products for SPINT1: 
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    Cloud-Clone Corp. ELISAs for SPINT1 
    Cloud-Clone Corp. CLIAs for SPINT1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/6 InterPro protein domains (see all 6):
     IPR002172 LDrepeatLR_classA_rpt
     IPR023415 LDLR_class-A_CS
     IPR002223 Prot_inh_Kunz-m
     IPR011106 MANSC_N
     IPR020901 Prtase_inh_Kunz-CS

    Graphical View of Domain Structure for InterPro Entry O43278

    ProtoNet protein and cluster: O43278

    3 Blocks protein domains:
    IPB002172 Low density lipoprotein-receptor
    IPB002223 Pancreatic trypsin inhibitor (Kunitz)
    IPB011106 Seven cysteines


    UniProtKB/Swiss-Prot: SPIT1_HUMAN, O43278
    Domain: This inhibitor contains two inhibitory domains
    Similarity: Contains 2 BPTI/Kunitz inhibitor domains
    Similarity: Contains 1 LDL-receptor class A domain
    Similarity: Contains 1 MANSC domain


    SPINT1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SPIT1_HUMAN, O43278
    Function: Inhibitor of HGF activator. Also acts as an inhibitor of matriptase (ST14)

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004867serine-type endopeptidase inhibitor activity IEA--
    GO:0005515protein binding ----
         
    SPINT1 for ontologies           About GeneDecksing


    Phenotypes:
         14 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Spint1):
     behavior/neurological  cardiovascular system  cellular  digestive/alimentary  embryogenesis 
     endocrine/exocrine gland  growth/size  homeostasis/metabolism  immune system  integument 
     limbs/digits/tail  mortality/aging  nervous system  other 

    SPINT1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for SPINT1: Spint1tm1Bug Spint1tm1Hk

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SPINT1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SPINT1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SPINT1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SPINT1 

    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate SPINT1:
    hsa-miR-3120-3p
    SwitchGear 3'UTR luciferase reporter plasmidSPINT1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SPINT1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPINT1
    Sirion Biotech Customized lentivirus for stable overexpression of SPINT1 
                         Customized lentivirus expression plasmids for stable overexpression of SPINT1 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPINT1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SPINT1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)
    CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)
    2Transcriptional misregulation in cancer
    Transcriptional misregulation in cancer

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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



    1         Kegg Pathway  (Kegg details for SPINT1):
        Transcriptional misregulation in cancer


    SPINT1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SPINT1

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5/7 Interacting proteins for SPINT1 (O432781, 2, 3 ENSP000003420984) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HGFACQ047561, 3, ENSP000003722244EBI-953990,EBI-1041722 I2D: score=3 STRING: ENSP00000372224
    UBQLN4Q9NRR52, 3, ENSP000003572924MINT-2863303 I2D: score=3 STRING: ENSP00000357292
    ST14Q9Y5Y63, ENSP000002787424I2D: score=3 STRING: ENSP00000278742
    FAM46AQ96IP43I2D: score=2 
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001892embryonic placenta development ----
    GO:0030198extracellular matrix organization IEA--
    GO:0060670branching involved in labyrinthine layer morphogenesis IEA--
    GO:0060674placenta blood vessel development IEA--

    SPINT1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SPINT1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SPINT1 (SPIT1)

    5 Novoseek inferred chemical compound relationships for SPINT1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    serine 76.7 86 11805118 (3), 15964823 (2), 16557597 (2), 16273651 (2) (see all 31)
    suramin 40.8 2 15590895 (2)
    lipid 0 1 17344310 (1)
    tyrosine 0 1 17204092 (1)
    testosterone 0 4 15972969 (3)

    Search CenterWatch for drugs/clinical trials and news about SPINT1 / SPIT1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SPINT1 gene (3 alternative transcripts): 
    NM_001032367.1  NM_003710.3  NM_181642.2  

    Unigene Cluster for SPINT1:

    Serine peptidase inhibitor, Kunitz type 1
    Hs.233950  [show with all ESTs]
    Unigene Representative Sequence: BC018702
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000562057(uc001znb.3) ENST00000344051(uc001zna.3 uc010ucs.2)
    ENST00000568823 ENST00000563656 ENST00000568580 ENST00000566928 ENST00000564375
    ENST00000569589 ENST00000563135 ENST00000566642 ENST00000568200 ENST00000431806(uc001znc.3)

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SPINT1
    1 QIAGEN miScript miRNA Assays for microRNA that regulate SPINT1:
    hsa-miR-3120-3p
    SwitchGear 3'UTR luciferase reporter plasmidSPINT1 3' UTR sequence
    Inhib. RNA
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    Clone
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    OriGene clones in human, mouse for SPINT1 (see all 16)
    OriGene ORF clones in mouse, rat for SPINT1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): SPINT1 (NM_181642)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SPINT1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPINT1
    Sirion Biotech Customized lentivirus for stable overexpression of SPINT1 
                         Customized lentivirus expression plasmids for stable overexpression of SPINT1 
    Primer
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    OriGene qPCR primer pairs and template standards for SPINT1
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SPINT1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SPINT1

    Additional mRNA sequence: 

    AB000095.1 AK300195.1 AK303899.1 AK314825.1 AY296715.1 AY358969.1 BC004140.1 BC018702.1 
    BT007425.1 

    15 DOTS entries:

    DT.416395  DT.100877994  DT.416396  DT.100877973  DT.95254255  DT.100877992  DT.91933183  DT.100877999 
    DT.85104503  DT.100674596  DT.97868376  DT.99977020  DT.100877968  DT.95158232  DT.97854645 

    24/338 AceView cDNA sequences (see all 338):

    CR606886 BX417435 AW888962 AL540329 CR596666 AA340669 BQ690456 CF134826 
    BM839836 BM847531 BG822632 BX359693 CR611994 BX382617 BX335409 BU190704 
    BX378958 AW207583 AF086366 CR621611 BX385810 CR593471 BX336937 BX386013 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for SPINT1 (see all 9)    About this scheme

    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:                                                                                                        -                                       


    ECgene alternative splicing isoforms for SPINT1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SPINT1 expression in normal human tissues (normalized intensities)      SPINT1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGTGAAGAGG
    SPINT1 Expression
    About this image


    SPINT1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 5 entries
             Inner Cell Mass Cells Inner Cell Mass
             hIPS1
     
     Epiblast (Early Embryonic Tissues)    fully expand to see all 2 entries
             Epiblast Cells Epiblast
             Epiblast Stem Cell line 5
     
     Kidney (Urinary System)
             Renal Collecting Duct System
     
     Placenta (Extraembryonic Tissues)

    See SPINT1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SPINT1

    SOURCE GeneReport for Unigene cluster: Hs.233950
        SABiosciences Custom PCR Arrays for SPINT1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPINT1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SPINT1 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Spint11 , 5 serine protease inhibitor, Kunitz type 11, 5 82.25(n)1
    80.67(a)1
      2 (59.97 cM)5
    207321  NM_016907.31  NP_058603.21 
     1192373625 
    chicken
    (Gallus gallus)
    Aves SPINT11 serine peptidase inhibitor, Kunitz type 1 63.78(n)
    55(a)
      423206  XM_421130.3  XP_421130.3 
    lizard
    (Anolis carolinensis)
    Reptilia SPINT16
    serine peptidase inhibitor, Kunitz type 1
    51(a)
    1 ↔ 1
    GL343264.1(380127-416518)
    African clawed frog
    (Xenopus laevis)
    Amphibia BJ614568.12   -- 73.03(n)    BJ614568.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC053239.12   -- 75.88(n)    BC053239.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG64956
    --
    5(a)
    1 → many
    2L(10761116-10764971)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SPINT1 gene
    SPINT22  WFIKKN22  AMBP2  SPINT32  TFPI22  WFIKKN12  TFPI2  
    5 SIMAP similar genes for SPINT1 using alignment to 8 protein entries:     SPIT1_HUMAN (see all proteins):
    ITIL    TFPI    SPINT3    COL28A1    CD320

    SPINT1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/451 SNPs in SPINT1 are shown (see all 451)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1445022311,2
    --21199724(+) CTTCAA/GTGCTG 2 -- us2k10--------
    rs1478551601,2
    --21199749(+) TCAGTA/TTACCT 2 -- us2k10--------
    rs1905419291,2
    --21199877(+) TGCTGA/GATTCA 2 -- us2k10--------
    rs1932493261,2
    --21199894(+) TTTTTA/GTAATG 2 -- us2k10--------
    rs1843515101,2
    --21199899(+) ATAATG/TGTGTG 2 -- us2k10--------
    rs796507871,2
    C,F--21199954(+) TAAGGT/CAATAT 3 -- us2k12Minor allele frequency- C:0.11WA EA 238
    rs1892839871,2
    --21200121(+) TAGCTC/TGGCGT 3 -- us2k10--------
    rs1813231211,2
    --21200220(+) CGTGCC/TATTGC 3 -- us2k10--------
    rs2003445661,2
    --21200270(+) AAAAA-/TAAAAA 3 -- us2k10--------
    rs2002999981,2
    --21200273(+) AAAAA-/TAAAAT 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for SPINT1 (41136216 - 41150405 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for SPINT1:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv2360n71CNV Loss21882294
    nsv904102CNV Loss21882294
    nsv904104CNV Loss21882294
    nsv904101CNV Loss21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 605123    OMIM disorders: --

    20 diseases for SPINT1:    About MalaCards
    prostate adenocarcinoma    idiopathic pulmonary fibrosis    skin cancer    pulmonary fibrosis
    ovarian cancer    hepatocellular carcinoma    prostatitis    adenocarcinoma
    renal cell carcinoma    colorectal cancer    prostate cancer    cervical cancer
    adenoma    glioblastoma    breast cancer    cervicitis
    gastric cancer    pancreatitis    lung cancer    endotheliitis


    SPINT1 for disorders           About GeneDecksing

    10/18 Novoseek inferred disease relationships for SPINT1 gene (see all 18)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    carcinoma 38.2 17 16820046 (4), 11290548 (2), 18550704 (1), 16467405 (1) (see all 7)
    cancer 32.5 28 15972969 (4), 11562767 (3), 15471558 (3), 18813126 (2) (see all 14)
    prostatic adenocarcinoma 28.1 1 16492908 (1)
    breast cancer 24.1 17 11290548 (4), 14734471 (3), 16557597 (2), 11562767 (2) (see all 9)
    colorectal carcinoma 23.1 6 15471558 (2), 11436357 (1), 11085539 (1)
    benign prostatic hyperplasia 22.9 3 16492908 (1), 18813126 (1), 16353247 (1)
    prostate cancer 22.2 19 16353247 (6), 17786295 (3), 18813126 (2), 16492908 (1) (see all 7)
    metastasis 20 12 16273651 (4), 15972969 (2), 18813126 (1), 16353247 (1) (see all 6)
    ovarian cancer 18.6 7 19148468 (6), 12779007 (1)
    tumors 18 20 11948120 (6), 16492908 (2), 14734471 (2), 19578736 (1) (see all 8)

    Genetic Association Database (GAD): SPINT1
    Human Genome Epidemiology (HuGE) Navigator: SPINT1 (1 document)

    Export disorders for SPINT1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SPINT1 gene, integrated from 9 sources (see all 121):
    (articles sorted by number of sources associating them with SPINT1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. ST14 gene variant and decreased matriptase protein ex pression predict poor breast cancer survival. (PubMed id 20716618)1, 4 Kauppinen J.M....Mannermaa A. (2010)
    2. Conformational lability in serine protease active sites: structures of hepatocyte growth factor activator (HGFA) alone and with the inhibitory domain from HGFA inhibitor-1B. (PubMed id 15713485)1, 2 Shia S.... Eigenbrot C. (2005)
    3. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PubMed id 15340161)1, 2 Zhang Z. and Henzel W.J. (2004)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)
    6. Purification and characterization of a complex containing matriptase and a Kunitz-type serine protease inhibitor from human milk. (PubMed id 10373425)1, 2 Lin C.Y.... Dickson R.B. (1999)
    7. Hepatocyte growth factor activator inhibitor, a novel Kunitz-type serine protease inhibitor. (PubMed id 9045658)1, 2 Shimomura T.... Kitamura N. (1997)
    8. Expression of serine protease SNC19/matriptase and its inhibitor hepatocyte growth factor activator inhibitor type 1 in normal and malignant tissues of gastrointestinal tract. (PubMed id 16273651)1, 9 Zeng L....Zhang X. (2005)
    9. Distribution of hepatocyte growth factor activator inhibitor type 1 (HAI-1) in human tissues. Cellular surface localization of HAI-1 in simple columnar epithelium and its modulated expression in injured and regenerative tissues. (PubMed id 10219059)1, 9 Kataoka H....Koono M. (1999)
    10. The role of hepatocyte growth factor activator inhibi tor-1 (HAI-1) as a prognostic indicator in cervical cancer. (PubMed id 19578736)1, 9 Nakamura K....Hiramatsu Y. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6692 HGNC: 11246 AceView: SPINT1 Ensembl:ENSG00000166145 euGenes: HUgn6692
    ECgene: SPINT1 Kegg: 6692 H-InvDB: SPINT1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SPINT1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SPINT1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SPINT1 gene:
    Search GeneIP for patents involving SPINT1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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