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

SPINK6 Gene

protein-coding   GIFtS: 41
GCID: GC05P147564

serine peptidase inhibitor, Kazal type 6

(Previous names: serine protease inhibitor, Kazal type 6 )
  Search for SPINK6
in our new
 Human Malady Compendium 
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Serine Peptidase Inhibitor, Kazal Type 61 2     Serine Protease Inhibitor, Kazal Type 61
BUSI21 2     Acrosin Inhibitor2
UNQ8441 2     Protease Inhibitor H2
Kallikrein Inhibitor2 3     Serine Protease Inhibitor Kazal-Type 62
MGC213941     

External Ids:    HGNC: 294861   Entrez Gene: 4042032   Ensembl: ENSG000001781727   UniProtKB: Q6UWN83   

Export aliases for SPINK6 gene to outside databases

Previous GC identifer: GC05P142729


(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 SPINK6:
The protein encoded by this gene is a Kazal-type serine protease inhibitor that acts on kallikrein-related peptidases
in the skin. Two transcript variants the same protein have been found for this gene. (provided by RefSeq, Aug 2010)

UniProtKB/Swiss-Prot: ISK6_HUMAN, Q6UWN8
Function: Serine protease inhibitor selective for kallikreins. Efficiently inhibits KLK4, KLK5, KLK6, KLK7, KLK12,
KLK13 and KLK14. Doesn't inhibit KLK8




(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.1  NT_029289.11  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SPINK6 gene promoter:
         c-Fos   Sox5   AP-1   AML1a   JunB   Fra-1   FosB   JunD   IRF-7A   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSPINK6 promoter sequence
   Search SABiosciences Chromatin IP Primers for SPINK6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SPINK6


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

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

SPINK6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPINK6 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P147564:  view genomic region     (about GC identifiers)

Start:
147,582,357 bp from pter      End:
147,594,700 bp from pter
Size:
12,344 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ISK6_HUMAN, Q6UWN8 (See protein sequence)
Recommended Name: Serine protease inhibitor Kazal-type 6 precursor  
Size: 80 amino acids; 8585 Da
Subcellular location: Secreted (Potential)
Secondary accessions: E0X656 Q8N5P0

Explore the universe of human proteins at neXtProt for SPINK6: NX_Q6UWN8

SPINK6 Protein expression data from MOPED and PaxDb:    About this image 

Estimated protein expression log10 (pmol).

REFSEQ proteins (2 alternative transcripts): 
NP_001182219.1  NP_995313.2  

ENSEMBL proteins: 
 ENSP00000421119   ENSP00000324870  

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Uscn Proteins for SPINK6

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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


SPINK6 for ontologies           About GeneDecksing



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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

SPINK6 for domains           About GeneDecksing

1 InterPro domain/family:
 IPR002350 Prot_inh_Kazal

Graphical View of Domain Structure for InterPro Entry Q6UWN8

ProtoNet protein and cluster: Q6UWN8

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

UniProtKB/Swiss-Prot: ISK6_HUMAN, Q6UWN8
Similarity: Contains 1 Kazal-like domain


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

     UniProtKB/Swiss-Prot: ISK6_HUMAN, Q6UWN8
Function: Serine protease inhibitor selective for kallikreins. Efficiently inhibits KLK4, KLK5, KLK6, KLK7, KLK12,
KLK13 and KLK14. Doesn't inhibit KLK8

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Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0004867serine-type endopeptidase inhibitor activity IEA--


SPINK6 for ontologies           About GeneDecksing


Animal Models:
     Mouse knock-out Spink6tm1Lex for SPINK6
     1 MGI phenotypic allele for Spink6 (no phenotypes)

SPINK6 for phenotypes           About GeneDecksing


(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SPINK6

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for SPINK6

1 DrugBank Compound for SPINK6    About this table
CompoundSynonyms CAS #TypeActionsPubMed Ids
Leucine - Reduced Carbonyl-- --target--17139284 17016423 10592235

Search CenterWatch for drugs/clinical trials and news about SPINK6 / ISK6 

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 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,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for SPINK6 gene (2 alternative transcripts): 
NM_001195290.1  NM_205841.3  

Unigene Cluster for SPINK6:

Serine peptidase inhibitor, Kazal type 6
Hs.334274  [show with all ESTs]
Unigene Representative Sequence: GQ504704
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000514389 ENST00000325630(uc021yff.1 uc003lpa.3)

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Inhib. RNA
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Additional cDNA sequence: 

AY358716.1 BC032003.1 GQ504704.1 GQ504705.1 

3 DOTS entries:

DT.40269264  DT.120828789  DT.91736837 

24/54 AceView cDNA sequences (see all 54):

CB127623 BG437040 BG194136 AY358716 AI935239 BG682226 CB127187 BC032003 
BG191133 BE122852 CB151643 BG182624 BG207491 CB151338 NM_205841 BG208042 
BX110104 BG190022 BU565432 BG207003 BG206479 BG220067 BG198672 BG186306 

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™, 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

SPINK6 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTTCTGCTCC

Microarray
RNAseq (Illumina Body Map)
(100×FPKM)½
SAGE (Serial Analysis of Gene Expression)

About this image
See SPINK6 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SPINK6

SOURCE GeneReport for Unigene cluster: Hs.334274
    SABiosciences Custom PCR Arrays for SPINK6
Primer
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPINK6

(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 chordates.

Orthologs for SPINK6 gene from 1/5 species (see all 5)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
chicken
(Gallus gallus)
Aves SPINK66
Uncharacterized protein
58(a)
1 → many
13(10658100-10659975)


ENSEMBL Gene Tree for SPINK6 (if available)
TreeFam Gene Tree for SPINK6 (if available) 

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
  --

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

10/360 NCBI SNPs in SPINK6 are shown (see all 360    About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 5 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs571417241,2
F,--147580597(+) TATTTA/GTGATA 2 -- us2k12Minor allele frequency- G:0.15WA EA 238
rs1904339891,2
--147580607(+) ATAATA/GTTTCC 2 -- us2k10--------
rs1931046861,2
--147580652(+) GTGCTG/TTCATG 2 -- us2k10--------
rs599321641,2
F,--147580667(+) TAAGCG/ATTTTT 2 -- us2k11Minor allele frequency- A:0.26EA 120
rs100656821,2
C,F,H,--147580713(+) GAAAAC/TATTCT 2 -- us2k15Minor allele frequency- T:0.02NS EA WA 538
rs123324361,2
C,F,A,H,--147580730(+) GAGGAT/CAGAGT 2 -- us2k121Minor allele frequency- C:0.43NA NS EA WA CSA 2378
rs1853483431,2
--147580757(+) AATTCC/TATTAA 2 -- us2k10--------
rs100749811,2
C,F,H,--147580772(+) TCACCT/CATTAA 2 -- us2k15Minor allele frequency- C:0.02NS EA WA 530
rs749820671,2
F,--147580994(+) TGTTAT/CGTTGA 2 -- us2k12Minor allele frequency- C:0.15WA EA 238
rs123326771,2
C,F,A,H,--147581039(+) TTTTGC/TCACTT 2 -- us2k122Minor allele frequency- T:0.42NA NS EA WA CSA 2264

HapMap Linkage Disequilibrium report for SPINK6 (147582357 - 147594700 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
      Database of Genomic Variants (DGV) variations for SPINK6: --

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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.)
About This Section

SPINK6 for disorders           About MalaCards

SPINK6 for disorders           About GeneDecksing

2 diseases from the University of Copenhagen DISEASES database for SPINK6:
Dyshidrosis     Epidermolysis bullosa simplex

Export disorders for SPINK6 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 SPINK6 gene, integrated from 9 sources (see all 12):
(articles sorted by number of sources associating them with SPINK6)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Inhibition of kallikrein-related peptidases by the se rine protease inhibitor of Kazal-type 6. (PubMed id 21439340)1, 2 Kantyka T....Meyer-Hoffert U. (2011)
  2. Isolation of Spink6 in human skin: a selective inhibitor of kallikrein-related peptidases. (PubMed id 20667819)1, 2 Meyer-Hoffert U.... Schroeder J.M. (2010)
  3. A genomic analysis of rat proteases and protease inhibitors. (PubMed id 15060002)1, 3 Puente X.S. and Lopez-Otin C. (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. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PubMed id 15340161)1, 2 Zhang Z. and Henzel W.J. (2004)
  6. 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)
  7. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
  8. Drugs, their targets and the nature and number of dru g targets. (PubMed id 17016423)7 Imming P....Meyer A. (2006)
  9. How many drug targets are there? (PubMed id 17139284)7 Overington J.P....Hopkins A.L. (2006)
  10. 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. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 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)
About This Section
Entrez Gene: 404203 HGNC: 29486 AceView: MGC21394 Ensembl:ENSG00000178172 euGenes: HUgn404203
ECgene: SPINK6 H-InvDB: SPINK6

(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 SPINK6 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for SPINK6 gene:
Search GeneIP for patents involving SPINK6

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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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About This Section

 
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GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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VWF
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von Willebrand factor
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