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SPINK13 Gene

protein-coding   GIFtS: 42
GCID: GC05P147648

Serine Peptidase Inhibitor, Kazal Type 13 (Putative)

  See SPINK13-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)
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Aliases
Serine Peptidase Inhibitor, Kazal Type 13 (Putative)1 2     HESPINTOR2
Hepatitis B Virus DNA Polymerase Transactivated Serine Protease Inhibitor2 3     LiESP62
Serine Protease Inhibitor Kazal-Type 5-Like 32 3     Hepatitis B Virus DNA Polymerase Transactivated Human Serine Protease
Inhibitor2
HBVDNAPTP12 3     Serine Protease Inhibitor Kazal-Type 132
SPINK5L32 3     Hespintor3

External Ids:    HGNC: 272001   Entrez Gene: 1532182   Ensembl: ENSG000002145107   OMIM: 6152055   UniProtKB: Q1W4C93   

Export aliases for SPINK13 gene to outside databases

Previous GC identifer: GC05P142795


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for SPINK13 Gene:
SPINK13 (serine peptidase inhibitor, Kazal type 13 (putative)) is a protein-coding gene. Diseases associated with SPINK13 include hepatitis b, and hepatitis. GO annotations related to this gene include serine-type endopeptidase inhibitor activity.

UniProtKB/Swiss-Prot: ISK13_HUMAN, Q1W4C9
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)




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000005.9  NC_018916.2  NT_029289.12  
Regulatory elements:
   Search for regulatory transcription factor binding sites for SPINK13
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for SPINK13

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SPINK13


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

Entrez Gene cytogenetic band: 5q32   Ensembl cytogenetic band:  5q32   HGNC cytogenetic band: 5q32

SPINK13 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPINK13 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P147648:  view genomic region     (about GC identifiers)

Start:
147,647,743 bp from pter      End:
147,665,817 bp from pter
Size:
18,075 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ISK13_HUMAN, Q1W4C9 (See protein sequence)
Recommended Name: Serine protease inhibitor Kazal-type 13 precursor  
Size: 94 amino acids; 11051 Da
Secondary accessions: A1A4Y2
Alternative splicing: 2 isoforms:  Q1W4C9-1   Q1W4C9-2   

Explore the universe of human proteins at neXtProt for SPINK13: NX_Q1W4C9

Explore proteomics data for SPINK13 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn55
  • Modification sites at PhosphoSitePlus

  • See SPINK13 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001035218.1  
    ENSEMBL proteins: 
     ENSP00000421048   ENSP00000426279   ENSP00000381468  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SPINK: Serine peptidase inhibitors, Kazal type

    1 InterPro protein domain:
     IPR002350 Kazal_dom

    Graphical View of Domain Structure for InterPro Entry Q1W4C9

    ProtoNet protein and cluster: Q1W4C9

    UniProtKB/Swiss-Prot: ISK13_HUMAN, Q1W4C9
    Similarity: Contains 1 Kazal-like domain


    Find genes that share domains with SPINK13           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ISK13_HUMAN, Q1W4C9
    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): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004867serine-type endopeptidase inhibitor activity IEA--
    GO:0005515protein binding ----
         
    Find genes that share ontologies with SPINK13           About GenesLikeMe


    Animal Models:
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ISK13_HUMAN, Q1W4C9: Secreted (By similarity). 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)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular3
    nucleus1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--

    Find genes that share ontologies with SPINK13           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SPINK13
    Interactions:

        Search GeneGlobe Interaction Network for SPINK13

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:1902225negative regulation of acrosome reaction ISS--

    Find genes that share ontologies with SPINK13           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SPINK13 (ISK13)



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SPINK13 gene: 
    NM_001040129.2  

    Unigene Cluster for SPINK13:

    Serine peptidase inhibitor, Kazal type 13 (putative)
    Hs.483771  [show with all ESTs]
    Unigene Representative Sequence: AK001520
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000512953(uc003lpc.3) ENST00000511106(uc010jgt.3) ENST00000398450

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      QuantiFast Probe-based Assays in human, mouse, rat SPINK13

    Additional mRNA sequence: 

    AK001520.1 BC128163.1 BC128164.1 DQ438947.1 EF108324.1 EF426754.1 

    3 DOTS entries:

    DT.405432  DT.92414407  DT.99986102 

    4 AceView cDNA sequences:

    AU129688 AK001520 AU151764 AI024610 

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SPINK13 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGCTTTCTC
    SPINK13 Expression
    About this image


    SPINK13 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Neurons
             Mature Horizontal Cells Inner Nuclear Layer
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Mature Horizontal Cells Inner Nuclear Layer
    SPINK13 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SPINK13 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.483771
        Custom PCR Arrays for SPINK13
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPINK13

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

    Orthologs for SPINK13 gene from Selected species (see all 3)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Spink131 , 5 serine peptidase inhibitor, Kazal type 131, 5 70.41(n)1
    55.06(a)1
      18 (35.37 cM)5
    1000384171  NM_001168423.21  NP_001161895.11 
     626075405 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SPINK13 gene
    5 SIMAP similar genes for SPINK13 using alignment to 1 protein entry:     ISK13_HUMAN:
    HEL-S-48e    SPINK9    SPINK1    SPINK14    SPINK7

    Find genes that share paralogs with SPINK13           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SPINK13 (see all 445)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1502786461,2
    C--147646503(+) TTTTT-/TGGTGG 1 -- us2k10--------
    rs1894879851,2
    --147646593(+) CAACCA/GAATAA 1 -- us2k10--------
    rs1931485281,2
    --147646610(+) GATGGA/GTGGAC 1 -- us2k10--------
    rs2019032971,2
    --147646612(+) GGGTG-/TCGACTA 1 -- us2k10--------
    rs1998397761,2
    --147646616(+) TGGAC-/TACTTT 1 -- us2k10--------
    rs1478683621,2
    C--147646635(+) TTATAC/TCTATT 1 -- us2k10--------
    rs119554761,2
    C,H--147646751(+) ATATTC/TTAATA 1 -- us2k14Minor allele frequency- T:0.00NS EA 376
    rs68952421,2
    C,F,A,H--147646834(+) GGGGTA/CCTTTT 1 -- us2k14Minor allele frequency- C:0.03NS WA CSA 126
    rs1443703861,2
    C--147646834(+) GGGGT-/ACTTTTT 1 -- us2k10--------
    rs68732621,2
    C,H--147646870(+) TACCAG/AAAAGG 1 -- us2k15Minor allele frequency- A:0.00NS EA NA 412

    HapMap Linkage Disequilibrium report for SPINK13 (147647743 - 147665817 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for SPINK13:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv883015CNV Loss21882294
    dgv6358n71CNV Gain21882294
    dgv726n27CNV Gain19166990

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 615205    OMIM disorders: --

    2 diseases for SPINK13:    
    About MalaCards
    hepatitis b    hepatitis


    Find genes that share disorders with SPINK13           About GenesLikeMe

    Genetic Association Database (GAD): SPINK13

    Export disorders for SPINK13 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)
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    PubMed articles for SPINK13 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with SPINK13)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    2. Transcriptome analysis of a cDNA library from adult human epididymis. (PubMed id 18390568)1 Li J.Y.... Zhang Y.L. (DNA Res. 2008)
    3. Genome-wide association with bone mass and geometry in the Framingham Heart Study. (PubMed id 17903296)4 Kiel D.P....Karasik D. (BMC Med. Genet. 2007)
    4. Genome-wide association with select biomarker traits in the Framingham Heart Study. (PubMed id 17903293)4 Benjamin E.J....Vasan R.S. (BMC Med. Genet. 2007)
    5. Framingham Heart Study genome-wide association: results for pulmonary function measures. (PubMed id 17903307)4 Wilk J.B....O'Connor G.T. (BMC Med. Genet. 2007)
    6. A genomic analysis of rat proteases and protease inhibitors. (PubMed id 15060002)1 Puente X.S. and Lopez-Otin C. (Genome Res. 2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    10. (PubMed id )2 

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    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)
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    Entrez Gene: 153218 HGNC: 27200 AceView: SPINK5L3 Ensembl:ENSG00000214510 euGenes: HUgn153218
    ECgene: SPINK13 H-InvDB: SPINK13

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SPINK13 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SPINK13 gene:
    Search GeneIP for patents involving SPINK13

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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     Search Addgene for plasmids for SPINK13
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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