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SPINK9 Gene

protein-coding   GIFtS: 38
GCID: GC05P147695

Serine Peptidase Inhibitor, Kazal Type 9

  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)
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Aliases
Serine Peptidase Inhibitor, Kazal Type 91 2
LEKTI22 3 5
Lymphoepithelial Kazal-Type-Related Inhibitor 22 3
Serine Protease Inhibitor Kazal Type 92
Serine Protease Inhibitor Kazal-Type 92

External Ids:    HGNC: 329511   Entrez Gene: 6433942   Ensembl: ENSG000002049097   OMIM: 6135115   UniProtKB: Q5DT213   

Export aliases for SPINK9 gene to outside databases

Previous GC identifer: GC05P142862


(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 SPINK9 Gene:
SPINK9 (serine peptidase inhibitor, Kazal type 9) is a protein-coding gene. Diseases associated with SPINK9 include dyshidrosis, and netherton syndrome. GO annotations related to this gene include serine-type endopeptidase inhibitor activity.

UniProtKB/Swiss-Prot: ISK9_HUMAN, Q5DT21
Function: Serine protease inhibitor which specifically inhibits KLK5. May contribute to the regulation of the
desquamation process in skin by inhibiting KLK5




(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:
NC_000005.10  NC_018916.2  NT_029289.12  
Regulatory elements:
   Regulatory transcription factor binding sites in the SPINK9 gene promoter:
         XBP-1   
         Other transcription factors

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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SPINK9


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

Entrez Gene cytogenetic band: 5q32   Ensembl cytogenetic band:  5q32   HGNC cytogenetic band: 5q33.1

SPINK9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPINK9 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P147695:  view genomic region     (about GC identifiers)

Start:
147,700,766 bp from pter      End:
147,719,412 bp from pter
Size:
18,647 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, and/or Cloud-Clone Corp.,
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UniProtKB/Swiss-Prot: ISK9_HUMAN, Q5DT21 (See protein sequence)
Recommended Name: Serine protease inhibitor Kazal-type 9 precursor  
Size: 86 amino acids; 9756 Da
Subunit: Dimer. Interacts with KLK5 and KLK8
Secondary accessions: B2RPN9

Explore the universe of human proteins at neXtProt for SPINK9: NX_Q5DT21

Explore proteomics data for SPINK9 at MOPED


See SPINK9 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001035523.1  
ENSEMBL proteins: 
 ENSP00000427240   ENSP00000367139  

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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

2 InterPro protein domains:
 IPR002350 Kazal_dom
 IPR001239 Prot_inh_Kazal-m

Graphical View of Domain Structure for InterPro Entry Q5DT21

ProtoNet protein and cluster: Q5DT21

1 Blocks protein domain: IPB001239 Kazal-type serine protease inhibitor signature

UniProtKB/Swiss-Prot: ISK9_HUMAN, Q5DT21
Similarity: Contains 1 Kazal-like domain


SPINK9 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,
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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: ISK9_HUMAN, Q5DT21
Function: Serine protease inhibitor which specifically inhibits KLK5. May contribute to the regulation of the
desquamation process in skin by inhibiting KLK5

     Gene Ontology (GO): 2 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0004867serine-type endopeptidase inhibitor activity IDA19194479
GO:0005515protein binding IPI19194479
     
SPINK9 for ontologies           About GeneDecksing


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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
ISK9_HUMAN, Q5DT21: Secreted (Potential)
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--

SPINK9 for ontologies           About GeneDecksing


(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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Interactions:

    Search GeneGlobe Interaction Network for SPINK9

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

GO IDQualified GO termEvidencePubMed IDs
GO:0010951negative regulation of endopeptidase activity IDA19194479

SPINK9 for ontologies           About GeneDecksing



(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 Tocris compounds for SPINK9 (ISK9)



(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, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for SPINK9 gene: 
NM_001040433.1  

Unigene Cluster for SPINK9:

Serine peptidase inhibitor, Kazal type 9
Hs.631798
Unigene Representative Sequence: DA733675
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000511717 ENST00000377906(uc003lpe.1)
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Additional mRNA sequence: 

AY396740.1 BC137530.1 BC137531.1 

1 DOTS entry:

DT.120828756 

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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SPINK9 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TTCAGTATAG
SPINK9 Expression
About this image

SPINK9 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

SPINK9 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.631798

UniProtKB/Swiss-Prot: ISK9_HUMAN, Q5DT21
Tissue specificity: Skin. Highly expressed at sites of hyperkeratosis. Also detected in thymus, tonsils, testis,
pancreas, liver, placenta and brain. Expressed at stratum granulosum and stratum corneum at palmar and plantar
sites (at protein level)

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(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 SPINK9 gene from Selected species (see all 4)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Spink125 serine peptidase inhibitor, Kazal type 11   --   18 (23.74 cM) 44104407 


ENSEMBL Gene Tree for SPINK9 (if available)
TreeFam Gene Tree for SPINK9 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for SPINK9 gene
8 SIMAP similar genes for SPINK9 using alignment to 2 protein entries:     ISK9_HUMAN (see all proteins):
SPINK1    SPINK2    HEL-S-48e    SPINK13    SPINK6    SPINK7
SPINK14    SPINK5

SPINK9 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), 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 SPINK9 (see all 122)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 5 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1831347581,2
--147713193(+) CAATGA/GTAAAC 1 -- us2k10--------
rs1468243531,2
--147713591(+) GAGATA/TGGGCT 1 -- us2k10--------
rs788730241,2
C,F--147713632(+) ATTTAT/CAGCCA 1 -- us2k11Minor allele frequency- C:0.17EA 120
rs65805451,2
C,F,A,H--147713645(+) aagaaG/Taatga 1 -- us2k121Minor allele frequency- T:0.50NS EA NA WA CSA 2319
rs65805461,2
C,F,A,H--147713980(+) gaagaG/Taagag 1 -- us2k112Minor allele frequency- T:0.47NS EA NA WA CSA 785
rs65805471,2
C,F,A,H--147713991(+) tctttC/Tggttg 1 -- us2k111Minor allele frequency- T:0.08NS EA NA WA CSA 922
rs177197871,2
C,F,H--147714496(+) TCAGGT/CGTGCA 1 -- us2k111Minor allele frequency- C:0.09NA NS EA 1112
rs1871060691,2
--147714502(+) GTGCAA/TGATTC 1 -- us2k10--------
rs1396031971,2
--147714512(+) CCCAAA/TGTTTC 1 -- us2k10--------
rs1910467011,2
--147714535(+) TAGTAG/TGATGA 1 -- us2k10--------

HapMap Linkage Disequilibrium report for SPINK9 (147700766 - 147719412 bp)

Structural Variations
     Database of Genomic Variants (DGV) 2 variations for SPINK9:    About this table    
Variant IDTypeSubtypePubMed ID
nsv5058CNV Insertion18451855
nsv883015CNV Loss21882294

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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: 613511    OMIM disorders: --

7 diseases for SPINK9:    
About MalaCards
dyshidrosis    netherton syndrome    fatty liver disease    tonsillitis
liver disease    atopic dermatitis    dermatitis

2 diseases from the University of Copenhagen DISEASES database for SPINK9:
Dyshidrosis     Netherton syndrome

SPINK9 for disorders           About GeneDecksing


Export disorders for SPINK9 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 SPINK9 gene integrated from 10 sources:
(articles sorted by number of sources associating them with SPINK9)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Identification of lympho-epithelial Kazal-type inhibitor 2 in human skin as a kallikrein-related peptidase 5-specific protease inhibitor. (PubMed id 19190773)1, 2 Meyer-Hoffert U.... Schroeder J.M. (PLoS ONE 2009)
  2. SPINK9: a selective, skin-specific Kazal-type serine protease inhibitor. (PubMed id 19194479)1, 2 Brattsand M.... Egelrud T. (J. Invest. Dermatol. 2009)
  3. Characterization of SPINK9, a KLK5-specific inhibitor expressed in palmo-plantar epidermis. (PubMed id 22505519)1 BrAonnstrAPm K....Brattsand M. (Biol. Chem. 2012)
  4. Expression and regulation of murine SPINK12, a potential orthologue of human LEKTI2. (PubMed id 21899598)1 Reiss K....Sedlacek R. (Exp. Dermatol. 2011)
  5. Common SPINK-1 mutations do not predispose to the development of non-alcoholic fatty liver disease. (PubMed id 19502653)1 Oruc N....Akarca U.S. (Ann Hepatol 2009)
  6. 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)
  7. 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)

(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: 643394 HGNC: 32951 Ensembl:ENSG00000204909 euGenes: HUgn643394 ECgene: SPINK9
H-InvDB: SPINK9

(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 SPINK9 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 SPINK9 gene:
Search GeneIP for patents involving SPINK9

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



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Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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 Browse SwitchGear Promoter luciferase reporter plasmids for SPINK9
 Search ThermoFisher Antibodies for SPINK9
 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPINK9
 inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SPINK9
 inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SPINK9
 LSBio Antibodies in human, mouse, rat for SPINK9
Customized transgenic rodents for:
 Humanization
 Biomarker expression
 Off-target effect monitoring
 Translational medicine
 Tissue-specific gene expresssion
 Time-controlled gene expresssion
 Browse compounds at ApexBio
       
GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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