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S100A3 Gene

protein-coding   GIFtS: 55
GCID: GC01M153519

S100 Calcium Binding Protein A3

(Previous name: S100 calcium-binding protein A3)
(Previous symbol: S100E)
  See related diseases
at
MalaCards
 

Aliases
for S100A3 gene

(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
S100 Calcium Binding Protein A31 2
S100E1 2 3 5
S100 Calcium-Binding Protein A31 2 3
Protein S100-A32
Protein S-100E3

External Ids:    HGNC: 104931   Entrez Gene: 62742   Ensembl: ENSG000001880157   OMIM: 1769925   UniProtKB: P337643   

Export aliases for S100A3 gene to outside databases

Previous GC identifers: GC01M151335 GC01M149302 GC01M150344 GC01M150789 GC01M9A0063 GC01M9A0332 GC01M151786 GC01M124883


Summaries
for S100A3 gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for S100A3 Gene:
The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding
motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the
regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes
include at least 13 members which are located as a cluster on chromosome 1q21. This protein has the highest
content of cysteines of all S100 proteins, has a high affinity for Zinc, and is highly expressed in human hair
cuticle. The precise function of this protein is unknown. (provided by RefSeq, Jul 2008)

GeneCards Summary for S100A3 Gene:
S100A3 (S100 calcium binding protein A3) is a protein-coding gene. Diseases associated with S100A3 include pilomatrixoma, and anaplastic astrocytoma. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is S100A11.

UniProtKB/Swiss-Prot: S10A3_HUMAN, P33764
Function: Binds both calcium and zinc. May be involved in calcium-dependent cuticle cell differentiation, hair
shaft and hair cuticular barrier formation

Gene Wiki entry for S100A3 Gene


Genomic Views
for S100A3 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NC_018912.2  NT_004487.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the S100A3 gene promoter:
         AML1a   ATF-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: S100A3 promoter sequence
   Search Chromatin IP Primers for S100A3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat S100A3


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

Entrez Gene cytogenetic band: 1q21   Ensembl cytogenetic band:  1q21.3   HGNC cytogenetic band: 1q21

S100A3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
S100A3 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M153519:  view genomic region     (about GC identifiers)

Start:
 153,519,805 bp from pter      End:
 153,521,848 bp from pter
Size:
 2,044 bases      Orientation:
 minus strand

Proteins
for S100A3 gene

(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.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: S10A3_HUMAN, P33764 (See protein sequence)
Recommended Name: Protein S100-A3  
Size: 101 amino acids; 11713 Da
Subunit: Homodimer and homotetramer for the citrullinated form
5 PDB 3D structures from and Proteopedia for S100A3:
1KSO (3D)        3NSI (3D)        3NSK (3D)        3NSL (3D)        3NSO (3D)    
Secondary accessions: D3DV51 Q6FGE4

Explore the universe of human proteins at neXtProt for S100A3: NX_P33764

Explore proteomics data for S100A3 at MOPED

Post-translational modifications: 

  • More than half of the arginine residues undergo citrullination by PAD1 and PAD2. Arg-51 is specifically
    citrullinated by PAD3 and promotes tetramerization1
  • Modification sites at neXtProt

    • See S100A3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002951.1  
    ENSEMBL proteins: 
     ENSP00000357702   ENSP00000357701  

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    S100A3 Antibody Products:

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    S100A3 Assay Products:

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    Domains /
    Families
    for S100A3 gene

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

    TryGeneCards Plus    		 HGNC Gene Families:
    S100: S100 calcium binding proteins

    4 InterPro protein domains:
     IPR011992 EF-hand-dom_pair
     IPR013787 S100_Ca-bd_sub
     IPR028488 S100A3
     IPR001751 S100/CaBP-9k_CS

    Graphical View of Domain Structure for InterPro Entry P33764

    ProtoNet protein and cluster: P33764

    1 Blocks protein domain: IPB001751 Calcium-binding protein

    UniProtKB/Swiss-Prot: S10A3_HUMAN, P33764
    Similarity: Belongs to the S-100 family
    Similarity: Contains 2 EF-hand domains


    S100A3 for domains           About GeneDecksing


    Function
    for S100A3 gene

    (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: S10A3_HUMAN, P33764
    Function: Binds both calcium and zinc. May be involved in calcium-dependent cuticle cell differentiation, hair
    shaft and hair cuticular barrier formation

         Genatlas biochemistry entry for S100A3:
    S100 calcium binding protein A3,epidermal differentiation complex

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
    GO:0008270zinc ion binding IEA--
         
    S100A3 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for S100A3
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    miRNA
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    1 qRT-PCR Assays for microRNA that regulate S100A3:
    hsa-miR-488
    SwitchGear 3'UTR luciferase reporter plasmid: S100A3 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat S100A3

    Gene Editing
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    In Situ Assay
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    Localization
    for S100A3 gene

    (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
    S10A3_HUMAN, P33764: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    extracellular2
    cytoskeleton1
    nucleus1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005730nucleolus IDA--
    GO:0005737cytoplasm IDA--

    S100A3 for ontologies           About GeneDecksing


    Pathways & Interactions
    for S100A3 gene

    (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 S100A3
    Interactions:

        Search GeneGlobe Interaction Network for S100A3

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

    5 Interacting proteins for S100A3 (P337643 ENSP000003577014) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DLG3Q927963, ENSP000003634804I2D: score=2 STRING: ENSP00000363480
    HPCAL4Q9UM193I2D: score=1 
    S100PENSP000002963704STRING: ENSP00000296370
    S100A1ENSP000002921694STRING: ENSP00000292169
    ABCG2ENSP000002376124STRING: ENSP00000237612
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    Drugs & Compounds
    for S100A3 gene

    (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 S100A3 (S10A3)

    1 HMDB Compound for S100A3    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    2 Novoseek inferred chemical compound relationships for S100A3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcium 33.5 12 18083705 (4), 9804353 (2), 10082754 (2), 8672544 (2) (see all 5)
    zinc 11.8 4 9920417 (3), 7673133 (1)



    S100A3 for compounds           About GeneDecksing



    Transcripts
    for S100A3 gene

    (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,
    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 S100A3 gene: 
    NM_002960.1  

    Unigene Cluster for S100A3:

    S100 calcium binding protein A3
    Hs.557609  [show with all ESTs]
    Unigene Representative Sequence: FY211449
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000368713(uc001fca.1) ENST00000368712
    miRNA
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    1 qRT-PCR Assays for microRNA that regulate S100A3:
    hsa-miR-488
    SwitchGear 3'UTR luciferase reporter plasmid: S100A3 3' UTR sequence
    Inhib. RNA
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat S100A3
      QuantiTect SYBR Green Assays in human, mouse, rat S100A3
      QuantiFast Probe-based Assays in human, mouse, rat S100A3

    Additional mRNA sequence: 

    BC012893.1 BT006955.1 CR542163.1 CR542185.1 Z18948.1 

    4 DOTS entries:

    DT.212995  DT.95246174  DT.87017506  DT.95363221 

    Selected AceView cDNA sequences (see all 388):

    CB109749 CB109338 BM694264 CB108379 AI160872 BC016300 CR542163 BM687134 
    BM754955 CR542185 AI168075 AA057375 AA872450 BU608609 BU175597 BM747639 
    BM739296 CB106970 W94732 R91545 F27477 AA991227 AA025742 CB109571 

    GeneLoc Exon Structure


    Expression
    for S100A3 gene

    (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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    S100A3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCTCCCACAC
    S100A3 Expression
    About this image


    S100A3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Epithelial Cells
             Fetal Matrix Cells Hair Follicle
     
     Hair (Integumentary System)
             Fetal Matrix Cells Hair Follicle
     
     Heart (Cardiovascular System)
    S100A3 Protein expression data from MOPED1, PaxDb2 and MaxQB3:     About this image

    S100A3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.557609

    UniProtKB/Swiss-Prot: S10A3_HUMAN, P33764
    Tissue specificity: Skin specific, specifically expressed at the inner endocuticle of hair fibers

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    In Situ
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    Orthologs
    for S100A3 gene

    (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 S100A3 gene from Selected species (see all 7)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia S100a31 , 5 S100 calcium binding protein A31, 5 90.1(n)1
    90.1(a)1    		   3 (39.26 cM)5
    201971  NM_011310.21  NP_035440.11 
     906002155 


    ENSEMBL Gene Tree for S100A3 (if available)
    TreeFam Gene Tree for S100A3 (if available)

    Paralogs
    for S100A3 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for S100A3 gene
    S100A112  S100A62  S100A12  S100A122  S100B2  S100A42  S100A102  S100Z2  
    S100P2  S100A52  S100A22  S100A92  
    10 SIMAP similar genes for S100A3 using alignment to 1 protein entry:     S10A3_HUMAN:
    S100A4    S100B    S100A2    S100A6    S100A5    S100A1
    S100A11    S100Z    S100P    S100A10

    S100A3 for paralogs           About GeneDecksing



    Genomic Variants
    for S100A3 gene

    (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 S100A3 (see all 99)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1483427481,2
    		C,F--153520297(+) ATTTGT/CTGTAG 2 /N /S mis11Minor allele frequency- C:0.00NA 4552
    rs20716311,2
    		C,H--153520317(-) ACTGAG/ATTTCG 2 /E syn1 ese36Minor allele frequency- A:0.00NS EA NA 422
    rs795760271,2
    		C--153520321(+) ACTCAG/CTCTGT 2 /T /S mis11Minor allele frequency- C:0.01WA 118
    rs1998630691,2
    		C--153520352(+) GGTAAG/AGGAGT 1 -- int11Minor allele frequency- A:0.00EU 1319
    rs560890621,2
    		C,F--153520400(+) CCTCCT/CTCCTC 1 -- int16Minor allele frequency- C:0.26WA CSA NA 246
    rs768574361,2
    		C,F--153520408(+) CTCTCC/TCAAGT 1 -- int12Minor allele frequency- T:0.06CSA WA 122
    rs1492157001,2
    		C--153520418(+) TGGACC/TCACCC 1 -- int10--------
    rs759281711,2
    		C,F--153520451(+) AGGGCC/TGACTT 1 -- int11Minor allele frequency- T:0.04WA 118
    rs780317811,2
    		C,F--153520513(+) CCTCTC/TAGATT 1 -- int11Minor allele frequency- T:0.03NA 120
    rs1177911061,2
    		F--153520514(+) CTCTCA/GGATTA 1 -- int11Minor allele frequency- G:0.01EA 120

    HapMap Linkage Disequilibrium report for S100A3 (153519805 - 153521848 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for S100A3:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv831603CNV Gain17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing S100A3
    DNA2.0 Custom Variant and Variant Library Synthesis for S100A3

    Disorders / Diseases
    for S100A3 gene

    (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.)
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    OMIM gene information: 176992    OMIM disorders: --

    12 diseases for S100A3:    
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    pilomatrixoma    anaplastic astrocytoma    craniopharyngioma    pilocytic astrocytoma
    astrocytoma    cholesteatoma    esophageal squamous cell carcinoma    atopic dermatitis
    dermatitis    esophagitis    squamous cell carcinoma    pancreatitis

    1 disease from the University of Copenhagen DISEASES database for S100A3:
    Pilomatrixoma

    S100A3 for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for S100A3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    anaplastic astrocytoma 54.1 1 9989446 (1)
    glioblastoma 35 1 9989446 (1)
    tumors 0 2 9989446 (1), 18793447 (1)

    Genetic Association Database (GAD): S100A3
    Human Genome Epidemiology (HuGE) Navigator: S100A3 (2 documents)

    Export disorders for S100A3 gene to outside databases

    Publications
    for S100A3 gene

    (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 S100A3 gene, integrated from 10 sources (see all 34):
    (articles sorted by number of sources associating them with S100A3)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Six S100 genes are clustered on human chromosome 1q21: identification of two genes coding for the two previously unreported calcium-binding proteins S100D and S100E. (PubMed id 8341667)1, 2, 3 Engelkamp D.... Heizmann C.W. (Proc. Natl. Acad. Sci. U.S.A. 1993)
    2. Specific citrullination causes assembly of a globular S100A3 homotetramer: a putative Ca2+ modulator matures human hair cuticle. (PubMed id 18083705)1, 2, 9 Kizawa K....Heizmann C.W. (J. Biol. Chem. 2008)
    3. Probing the structure of the human Ca2+- and Zn2+-binding protein S100A3: spectroscopic investigations of its transition metal ion complexes, and three-dimensional structural model. (PubMed id 9920417)1, 2, 9 Fritz G.... Kroneck P.M.H. (Biochim. Biophys. Acta 1998)
    4. Refined crystal structures of human Ca(2+)/Zn(2+)-binding S100A3 protein characterized by two disulfide bridges. (PubMed id 21377473)1, 2 Unno M.... Kizawa K. (J. Mol. Biol. 2011)
    5. Variation in genes of the epidermal differentiation complex in German atopic dermatitis patients. (PubMed id 19601998)1, 4 Stemmler S....Hoffjan S. (Int. J. Immunogenet. 2009)
    6. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    7. 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. (Genome Res. 2004)
    8. Characterization of the cysteine-rich calcium-binding S100A3 protein from human hair cuticles. (PubMed id 12470658)1, 2 Kizawa K....Heizmann C.W. (Biochem. Biophys. Res. Commun. 2002)
    9. Metal-free MIRAS phasing: structure of apo-S100A3. (PubMed id 12136135)1, 2 Mittl P.R....Grutter M.G. (Acta Crystallogr. D 2002)
    10. Highly-expressed S100A3, a calcium-binding protein, in human hair cuticle. (PubMed id 8672544)1, 9 Kizawa K....Murakami U. (Biochim. Biophys. Acta 1996)

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    Genome Databases showing S100A3 gene

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    Entrez Gene: 6274 HGNC: 10493 AceView: S100A3andS100A4 Ensembl:ENSG00000188015 euGenes: HUgn6274
    ECgene: S100A3 H-InvDB: S100A3

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    Specialized Databases showing S100A3 gene

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