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

SPRR1A Gene

protein-coding   GIFtS: 50
GCID: GC01P152956

small proline-rich protein 1A
 Explore 10 diseases affiliated with
SPRR1A via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SPRR1A    

Aliases
for SPRR1A gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Small Proline-Rich Protein 1A1 2     SPRK2 3
Small Proline-Rich Protein IA2 3     Cornifin A2
19 KDa Pancornulin2 3     Cornifin-A1
SPR-IA2 3     

External Ids:    HGNC: 112591   Entrez Gene: 66982   Ensembl: ENSG000001694747   OMIM: 1822655   UniProtKB: P353213   

Export aliases for SPRR1A gene to outside databases

Previous GC identifers: GC01P150773 GC01P148739 GC01P149731 GC01P150174 GC01P149769 GC01P151223 GC01P124319


Summaries
for SPRR1A gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
UniProtKB/Swiss-Prot: SPR1A_HUMAN, P35321
Function: Cross-linked envelope protein of keratinocytes. It is a keratinocyte protein that first appears in the cell
cytosol, but ultimately becomes cross-linked to membrane proteins by transglutaminase. All that results in the
formation of an insoluble envelope beneath the plasma membrane

Gene Wiki entry for SPRR1A


Genomic Views
for SPRR1A 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_004487.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SPRR1A gene promoter:
         ER-alpha   ISGF-3   p300   NCX/Ncx   Olf-1   Ik-3   E47   C/EBPalpha   SEF-1 (1)   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SPRR1A promoter sequence
   Search SABiosciences Chromatin IP Primers for SPRR1A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SPRR1A


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

Entrez Gene cytogenetic band: 1q21-q22   Ensembl cytogenetic band:  1q21.3   HGNC cytogenetic band: 1q21-q22

SPRR1A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPRR1A gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P152956:  view genomic region     (about GC identifiers)

Start:
 152,956,557 bp from pter      End:
 152,958,290 bp from pter
Size:
 1,734 bases      Orientation:
 plus strand

Proteins
for SPRR1A gene

(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: SPR1A_HUMAN, P35321 (See protein sequence)
Recommended Name: Cornifin-A  
Size: 89 amino acids; 9877 Da
Subcellular location: Cytoplasm
Secondary accessions: B1AN47 D3DV31 Q2M303 Q9UDG4

Explore the universe of human proteins at neXtProt for SPRR1A: NX_P35321

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P35321

    • SPRR1A Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001186757.1  NP_005978.2  

    ENSEMBL proteins: 
     ENSP00000357751   ENSP00000307340  

    Human Recombinant Protein Products: 
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    Uscn Proteins for SPRR1A

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001533cornified envelope IDA10908733
    GO:0005737cytoplasm IEA--


    SPRR1A for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for SPRR1A

    Protein Domains /
    Families
    for SPRR1A gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SPRR1A for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR003302 Cornifin
     IPR026075 SPRR/LCE

    Graphical View of Domain Structure for InterPro Entry P35321

    ProtoNet protein and cluster: P35321

    2 Blocks protein families:
    IPB003267 Small proline-rich protein signature
    IPB003302 Cornifin (SPRR)


    UniProtKB/Swiss-Prot: SPR1A_HUMAN, P35321
    Similarity: Belongs to the cornifin (SPRR) family


    Function
    for SPRR1A gene

    (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: SPR1A_HUMAN, P35321
    Function: Cross-linked envelope protein of keratinocytes. It is a keratinocyte protein that first appears in the cell
    cytosol, but ultimately becomes cross-linked to membrane proteins by transglutaminase. All that results in the
    formation of an insoluble envelope beneath the plasma membrane
    Induction: During squamous differentiation of epidermal keratinocytes

         Genatlas biochemistry entry for SPRR1A:
    small proline rich protein 1A,precursor of cornified cell envelope,cornifin,clustered in the epidermal differentiation
    complex (EDC)

    miRNA
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    Inhib. RNA
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    Gene Editing
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    Clone
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    Cell Line
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    Search LifeMap BioReagents cell lines for SPRR1A

    In Situ Assay
    Products:       
         		Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for SPRR1A

    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity IDA10908733
    GO:0005515protein binding IPI10066784
    GO:0030674protein binding, bridging IDA10908733


    SPRR1A for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for SPRR1A:
     Increased G1 DNA content 

    Animal Models:
         Mouse knock-out Sprr1atm1Rwu for SPRR1A
         1 MGI phenotypic allele for Sprr1a (no phenotypes)

    SPRR1A for phenotypes           About GeneDecksing


    Pathways & Interactions
    for SPRR1A gene

    (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 SPRR1A

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for SPRR1A (P353213 ENSP000003073404) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACTA1P681333, ENSP000003556454I2D: score=2 STRING: ENSP00000355645
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008544epidermis development TAS8325635
    GO:0018149peptide cross-linking IDA10908733
    GO:0030216keratinocyte differentiation IDA10908733
    GO:0031424keratinization IEA--


    SPRR1A for ontologies           About GeneDecksing



    Drugs & Compounds
    for SPRR1A gene

    (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 SPRR1A
    Search CenterWatch for drugs/clinical trials and news about SPRR1A / SPR1A 

    Transcripts
    for SPRR1A gene

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 SPRR1A gene (2 alternative transcripts): 
    NM_001199828.1  NM_005987.3  

    Unigene Cluster for SPRR1A:

    Small proline-rich protein 1A
    Hs.46320  [show with all ESTs]
    Unigene Representative Sequence: NM_001199828
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000368762(uc021ozn.1) ENST00000307122(uc009wnu.2 uc001faw.3)


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    Inhib. RNA
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    Clone
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SPRR1A
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SPRR1A

    Additional cDNA sequence: 

    BC105081.1 BC105083.1 BC143782.1 S73288.1 

    6 DOTS entries:

    DT.95259492  DT.91756347  DT.95149063  DT.95160281  DT.95293586  DT.312392 

    24/114 AceView cDNA sequences (see all 114):

    AA583900 AW204307 AL602918 AL602972 AA583886 NM_005987 CD704302 BM955461 
    BM955465 BM955470 BE713212 AW135266 AW872962 AW082445 BM955466 BX505203 
    BM955459 BE925218 NM_005416 BM955457 AA583834 AA595962 BM955472 AW366290 

    GeneLoc Exon Structure


    Expression
    for SPRR1A 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™, 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

    SPRR1A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

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

    SPRR1A expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    3 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LungRespiratory BronchiolesBasal CellsLung
    OvaryOvigerous CordOvarian Somatic CellsOvary
    Lower Urinary TractUreterLower Urinary Tract
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See SPRR1A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SPRR1A

    SOURCE GeneReport for Unigene cluster: Hs.46320
        SABiosciences Expression via Pathway-Focused PCR Arrays including SPRR1A: 
              Nephrotoxicity in human mouse rat
              Lung Cancer in human mouse rat

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    In Situ
    Assay Products:     
         		Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for SPRR1A

    Orthologs
    for SPRR1A 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)
    About This Section
    		   --

    ENSEMBL Gene Tree for SPRR1A (if available)
    TreeFam Gene Tree for SPRR1A (if available) 

    Paralogs
    for SPRR1A gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SPRR1A gene
    SPRR1B2  SPRR42  SPRR2F2  SPRR2B2  SPRR2D2  SPRR2G2  SPRR2A2  SPRR2E2  
    LELP12  SPRR32  
    4 SIMAP similar genes for SPRR1A using alignment to 1 protein entry:     SPR1A_HUMAN:
    SPRR1B    SPRR3    CCDC157    SPRR4

    SPRR1A for paralogs           About GeneDecksing



    Genomic Variants
    for SPRR1A gene

    (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

    10/107 NCBI SNPs in SPRR1A are shown (see all 107)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs730125001,2
    		C,F,--152954589(+) TGTTTT/AGAGTG 2 -- us2k14Minor allele frequency- A:0.12WA CSA EA 242
    rs1141505841,2
    		F,--152954623(+) TTTTAT/CGGCAA 2 -- us2k11Minor allele frequency- C:0.09WA 118
    rs1418679951,2
    		--152954678(+) GGAAAA/GAGAAG 2 -- us2k10--------
    rs75417201,2
    		C,F,A,H,--152954759(+) ACCTAC/TTGCCT 2 -- us2k126Minor allele frequency- T:0.07NS EA NA WA 2914
    rs45546661,2
    		H--152954794(+) TGTCAC/TGATGT 2 -- us2k1 tfbs34Minor allele frequency- T:0.00NS EA 420
    rs1396754431,2
    		--152954825(+) AGCGAA/CAGCAA 2 -- us2k10--------
    rs42408651,2
    		C,F,A,H,--152954839(+) AGGATC/AGAAGC 2 -- us2k134Minor allele frequency- A:0.30NS EA NA WA CSA 3063
    rs782358381,2
    		C--152954840(+) GGATAA/GAAGCA 2 -- us2k10--------
    rs1123003241,2
    		C,--152954850(+) GACAT-/TTTAG 
     TTTTGGC    TTTAG     		2 -- us2k11Minor allele frequency- TTTAGTTTTGGC:0.50CSA 2
    rs773550671,2
    		F,--152954863(+) TTGGCT/CTTTCC 2 -- us2k11Minor allele frequency- C:0.08WA 118

    HapMap Linkage Disequilibrium report for SPRR1A (152956557 - 152958290 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SPRR1A: --

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for SPRR1A

    Disorders / Diseases
    for SPRR1A gene

    (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
    SPRR1A for disorders           About GeneDecksing

    OMIM gene information: 182265    OMIM disorders: --

    10 diseases for SPRR1A:    About MalaCards
    spinal cord injury    esophageal squamous cell carcinoma    squamous cell carcinoma    atopic dermatitis
    dermatitis    esophagitis    gastric cancer    psoriasis
    carcinoma    neuronitis

    Human Genome Epidemiology (HuGE) Navigator: SPRR1A (2 documents)

    Export disorders for SPRR1A gene to outside databases

    Publications
    for SPRR1A 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)
    About This Section

    PubMed articles for SPRR1A gene, integrated from 9 sources (see all 25):
    (articles sorted by number of sources associating them with SPRR1A)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular characterization and evolution of the SPRR family of keratinocyte differentiation markers encoding small proline-rich proteins. (PubMed id 8325635)1, 2, 3 Gibbs S.... Backendorf C. (1993)
    2. 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)
    3. The pancornulins: a group of small proline rich-related cornified envelope precursors with bifunctional capabilities in isopeptide bond formation. (PubMed id 7829876)1, 2 Greco M.A....Kvedar J.C. (1995)
    4. Differential expression of protease inhibitor and small proline-rich protein genes between normal human oral tissue and odontogenic keratocysts. (PubMed id 8018055)1, 2 Robinson P.A.... Hume W.J. (1994)
    5. Small proline-rich repeat protein 1A is expressed by axotomized neurons and promotes axonal outgrowth. (PubMed id 11850458)1, 9 Bonilla I.E....Strittmatter S.M. (2002)
    6. Structure and organization of the genes encoding mouse small proline-rich proteins, mSPRR1A and 1B. (PubMed id 9931436)1, 9 Reddy S.P....Wu R. (1998)
    7. S100A11, S100A10, annexin I, desmosomal proteins, small proline-rich proteins, plasminogen activator inhibitor-2, and involucrin are components of the cornified envelope of cultured human epidermal keratinocytes. (PubMed id 9115270)1, 9 Robinson N.A.... Eckert R.L. (1997)
    8. Locus 1q21 Gene expression changes in atopic dermatit is skin lesions: deregulation of small proline-rich region 1A. (PubMed id 19672094)1 Jarzab J....Jarzab B. (2010)
    9. Association of psoriasis to PGLYRP and SPRR genes at PSORS4 locus on 1q shows heterogeneity between Finnish, Swedish and Irish families. (PubMed id 18643845)1 Kainu K....Saarialho-Kere U. (2009)
    10. Variation in genes of the epidermal differentiation c omplex in German atopic dermatitis patients. (PubMed id 19601998)1 Stemmler S....Hoffjan S. (2009)

    External Searches for SPRR1A gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    Genome Databases showing SPRR1A gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6698 HGNC: 11259 AceView: SPRR3andSPRR1A Ensembl:ENSG00000169474 euGenes: HUgn6698
    ECgene: SPRR1A H-InvDB: SPRR1A

    Other Databases showing SPRR1A gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SPRR1A gene

    (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 SPRR1A Pharmacogenomics, SNPs, Pathways
    NIEHS-SNPshttp://egp.gs.washington.edu/data/sprr1a/

    Intellectual Property
    for SPRR1A gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for SPRR1A gene:
    Search GeneIP for patents involving SPRR1A

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



    Products
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     SPRR1A Proteins, Antibodies, CLIAs, and ELISAs
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