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

WFIKKN1 Gene

protein-coding   GIFtS: 48
GCID: GC16P000682

WAP, follistatin/kazal, immunoglobulin, kunitz and netrin...

(Previous name: chromosome 16 open reading frame 12 )
(Previous symbol: C16orf12)
 Explore 1 disease affiliated with
WFIKKN1 via our new
 Human Malady Compendium 
Biological research products
for WFIKKN1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
WAP, Follistatin/Kazal, Immunoglobulin, Kunitz And Netrin Domain Containing
11 2
     GASP-22 3
WFIKKN1 2 3 5     HGASP-21
C16orf121 2 3     Chromosome 16 Open Reading Frame 121
RJD21 2     WAP Four-Disulfide Core Domain 20A2
WFDC20A1 2     WAP, FS, Ig, KU, And NTR-Containing Protein2
Growth And Differentiation Factor-Associated Serum Protein 22 3     WAP, Kazal, Immunoglobulin, Kunitz And NTR Domain-Containing Protein 12
WAP, Follistatin, Immunoglobulin, Kunitz And NTR Domain-Containing Protein2 3     GASP23

External Ids:    HGNC: 309121   Entrez Gene: 1171662   Ensembl: ENSG000001275787   OMIM: 6080215   UniProtKB: Q96NZ83   

Export aliases for WFIKKN1 gene to outside databases

Previous GC identifers: GC16P000622 GC16P000623 GC16P000680 GC16P000602 GC16P000681


(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 WFIKKN1:
This gene encodes a secreted multidomain protein consisting of a signal peptide, a WAP domain, a follistatin domain, an
immunoglobulin domain, two tandem Kunitz domains, and an NTR domain. These domains have been implicated frequently in
inhibition of various types of proteases, suggesting that the encoded protein may be a multivalent protease inhibitor
and may control the action of multiple types of serine proteases as well as metalloproteinases. (provided by RefSeq,
Jul 2008)

UniProtKB/Swiss-Prot: WFKN1_HUMAN, Q96NZ8
Function: Protease-inhibitor that contains multiple distinct protease inhibitor domains. Probably has serine protease-
and metalloprotease-inhibitor activity (By similarity)

Gene Wiki entry for WFIKKN1


(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_000016.9  NC_018927.1  NT_010393.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the WFIKKN1 gene promoter:
         NF-1   NF-1/L   RP58   AP-2alpha isoform 3   AP-2alpha isoform 2   E47   HEN1   AP-2alpha isoform 4   AP-2alpha   AP-2alphaA   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for WFIKKN1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat WFIKKN1


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

Entrez Gene cytogenetic band: 16p13.3   Ensembl cytogenetic band:  16p13.3   HGNC cytogenetic band: 16p13

WFIKKN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
WFIKKN1 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P000682:  view genomic region     (about GC identifiers)

Start:
679,239 bp from pter      End:
684,116 bp from pter
Size:
4,878 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: WFKN1_HUMAN, Q96NZ8 (See protein sequence)
Recommended Name: WAP, Kazal, immunoglobulin, Kunitz and NTR domain-containing protein 1 precursor  
Size: 548 amino acids; 58798 Da
Subcellular location: Secreted (By similarity)
Sequence caution: Sequence=AAK61237.1; Type=Erroneous gene model prediction; Sequence=BAC11566.1; Type=Frameshift;
Positions=147;
2 PDB 3D structures from and Proteopedia for WFIKKN1:
2DDI (3D)        2DDJ (3D)    
Secondary accessions: Q7LDW0 Q8NBQ1 Q96S20

Explore the universe of human proteins at neXtProt for WFIKKN1: NX_Q96NZ8

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96NZ8

  • WFIKKN1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_444514.1  
    ENSEMBL proteins: 
     ENSP00000324763  

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    Uscn Proteins for WFIKKN1

    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--


    WFIKKN1 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

    WFIKKN1 for domains           About GeneDecksing

    5/12 InterPro domains/families (see all 12):
     IPR003598 Ig_sub2
     IPR007110 Ig-like_dom
     IPR008993 TIMP-like_OB-fold
     IPR002350 Prot_inh_Kazal
     IPR013098 Ig_I-set

    Graphical View of Domain Structure for InterPro Entry Q96NZ8

    ProtoNet protein and cluster: Q96NZ8

    4 Blocks protein families:
    IPB003598 Immunoglobulin C-2 type
    IPB008197 4-disulphide core signature
    IPB011497 Protease inhibitor
    IPB013098 Immunoglobulin I-set


    UniProtKB/Swiss-Prot: WFKN1_HUMAN, Q96NZ8
    Domain: The second BPTI/Kunitz inhibitor domain is able to inhibit trypsin. It has however no activity toward
    chymotrypsin, elastase, plasmin, pancreatic kallikrein, lung tryptase, plasma kallikrein, thrombin, urokinase or
    tissue plasminogen activator
    Similarity: Belongs to the WFIKKN family
    Similarity: Contains 2 BPTI/Kunitz inhibitor domains
    Similarity: Contains 1 Ig-like C2-type (immunoglobulin-like) domain
    Similarity: Contains 1 Kazal-like domain
    Similarity: Contains 1 NTR domain
    Similarity: Contains 1 WAP 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: WFKN1_HUMAN, Q96NZ8
    Function: Protease-inhibitor that contains multiple distinct protease inhibitor domains. Probably has serine protease-
    and metalloprotease-inhibitor activity (By similarity)

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    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:0008191metalloendopeptidase inhibitor activity IEA--


    WFIKKN1 for ontologies           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 WFIKKN1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    5/7 Interacting proteins for WFIKKN1 (Q96NZ82, 3 ENSP000003247634) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BMP4P126442, 3, ENSP000002454514MINT-8044124 I2D: score=1 STRING: ENSP00000245451
    BMP8BP348202, 3, ENSP000003619154MINT-8044168 I2D: score=1 STRING: ENSP00000361915
    TGFB1P011372, 3, ENSP000002219304MINT-8044138 I2D: score=1 STRING: ENSP00000221930
    CSNK2BP678702, 3MINT-8253814 I2D: score=2 
    BMP2P126432, 3, ENSP000003681044MINT-8044148 I2D: score=1 STRING: ENSP00000368104
    About this table

    (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 WFIKKN1
    Search CenterWatch for drugs/clinical trials and news about WFIKKN1 / WFKN1 

    (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,
    RNAi Products from EMD Millipore,
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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 WFIKKN1 gene: 
    NM_053284.2  

    Unigene Cluster for WFIKKN1:

    WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1
    Hs.345818  [show with all ESTs]
    Unigene Representative Sequence: AK075356
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000573440(uc002chs.1) ENST00000319070(uc002cht.1)

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    Additional cDNA sequence: 

    AF422194.1 AK075356.1 AK314757.1 BC101602.1 BC101606.1 

    2 DOTS entries:

    DT.102842640  DT.97765902 

    24/243 AceView cDNA sequences (see all 243):

    BM055198 AW005486 BF593711 BQ685517 AI769701 AI479516 BE217726 AW516749 
    BM728190 BQ061135 BM666257 BX282685 CB853381 BQ717538 AI377816 BM052895 
    BQ008655 AI498001 BF811156 BM703680 BQ233405 AW166046 BU527649 BC001581 

    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

    WFIKKN1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGTGAGGTGC

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

    About this image

    WFIKKN1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Posterior foregut-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See WFIKKN1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for WFIKKN1

    SOURCE GeneReport for Unigene cluster: Hs.345818

    UniProtKB/Swiss-Prot: WFKN1_HUMAN, Q96NZ8
    Tissue specificity: Expressed in pancreas, kidney, liver, placenta, and lung

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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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for WFIKKN1 gene from 3/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves WFIKKN11 WAP, follistatin/kazal, immunoglobulin, kunitz and more 76.03(n)
    69.13(a)
      429301  XM_426858.3  XP_426858.2 
    lizard
    (Anolis carolinensis)
    Reptilia WFIKKN16
    --
    --
    68(a)
    4(a)
    1 ↔ 1
    possible ortholog
    AAWZ02036908(4371-5873)
    GL343690.1(197936-206598)
    zebrafish
    (Danio rerio)
    Actinopterygii wfikkn11 WAP, follistatin/kazal, immunoglobulin, kunitz and more 64.29(n)
    55.24(a)
      406570  NM_214747.1  NP_999912.1 


    ENSEMBL Gene Tree for WFIKKN1 (if available)
    TreeFam Gene Tree for WFIKKN1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for WFIKKN1 gene
    AMBP2  SPINT32  WFDC82  TFPI2  SPINT22  WFIKKN22  TFPI22  EPPIN2  
    EPPIN-WFDC62  
    1 SIMAP similar gene for WFIKKN1 using alignment to 1 protein entry:     WFKN1_HUMAN:
    WFIKKN2

    WFIKKN1 for paralogs           About GeneDecksing



    (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

    10/132 NCBI SNPs in WFIKKN1 are shown (see all 132    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs124478741,2
    C,H,--679814(+) CCTCCC/TTGGCA 1 -- us2k117Minor allele frequency- T:0.00NS EA NA WA CSA 794
    rs1477789081,2
    --679928(+) GAGCCA/GTCTCC 1 -- us2k10--------
    rs171393761,2
    C,F,H,--679953(+) CCAGAC/TCAGGC 1 -- us2k123Minor allele frequency- T:0.17NA NS EA WA CSA 2259
    rs769993571,2
    --679958(+) CCAGGC/GTCCTG 1 -- us2k11Minor allele frequency- G:0.01NA 120
    rs734854671,2
    C,--680025(+) GGTCTC/TAAGAG 1 -- us2k12Minor allele frequency- T:0.06WA 120
    rs1488460941,2
    --680142(+) CCCCAA/GCGAAG 1 -- us2k10--------
    rs344218121,2
    C,F,--680149(+) GAAGAG/AGAGCC 1 -- us2k16Minor allele frequency- A:0.05NA 308
    rs1502961781,2
    C,--680174(+) GCCCC-/GCCG  
            
    GCCGA
    1 -- us2k10--------
    rs1834910551,2
    --680180(+) GCCGAC/TGGGGG 1 -- us2k10--------
    rs1425447941,2
    --680273(+) GCGGTA/GCCATC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for WFIKKN1 (679239 - 684116 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 10 variations for WFIKKN1
         10 CNVs: 49727 53069 29986 49728 3987 29982 5329 29983 4914 29985

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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

    WFIKKN1 for disorders           About GeneDecksing

    OMIM gene information: 608021    OMIM disorders: --

    1 disease for WFIKKN1:    About MalaCards
    pancreatitis


    Export disorders for WFIKKN1 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 WFIKKN1 gene, integrated from 9 sources (see all 13):
    (articles sorted by number of sources associating them with WFIKKN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A human protein containing multiple types of protease-inhibitory modules. (PubMed id 11274388)1, 2, 3, 9 Trexler M.... Patthy L. (2001)
    2. Distinct expression pattern of two related human proteins containing multiple types of protease-inhibitory modules. (PubMed id 11928817)1, 3, 9 Trexler M.... Patthy L. (2002)
    3. Second Kunitz-type protease inhibitor domain of the human WFIKKN1 protein. (PubMed id 16791741)1, 2 Liepinsh E.... Otting G. (2006)
    4. Expression, purification and characterization of the second Kunitz-type protease inhibitor domain of the human WFIKKN protein. (PubMed id 12709070)1, 2 Nagy A....Patthy L. (2003)
    5. Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. (PubMed id 11157797)1, 2 Daniels R.J....Higgs D.R. (2001)
    6. Both WFIKKN1 and WFIKKN2 have high affinity for growth and differentiation factors 8 and 11. (PubMed id 18596030)1, 9 Kondas K....Patthy L. (2008)
    7. A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (2011)
    8. WFIKKN1 and WFIKKN2 bind growth factors TGFI^1, BMP2 a nd BMP4 but do not inhibit their signalling activity. (PubMed id 21054789)1 SzlA!ma G....Patthy L. (2010)
    9. 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. (2004)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 117166 HGNC: 30912 AceView: RAB40CandWFIKKN1 Ensembl:ENSG00000127578 euGenes: HUgn117166
    ECgene: WFIKKN1 H-InvDB: WFIKKN1

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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    NameDescription
    PharmGKB entry for WFIKKN1 Pharmacogenomics, SNPs, Pathways

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