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SPRR1A Gene

protein-coding   GIFtS: 52
GCID: GC01P152956

Small Proline-Rich Protein 1A

  Search for SPRR1A
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
Small Proline-Rich Protein 1A1 2     SPRK2 3
Small Proline-Rich Protein IA2 3     Cornifin A2
19 KDa Pancornulin2 3     cornifin-A2
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


(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 SPRR1A Gene:
SPRR1A (small proline-rich protein 1A) is a protein-coding gene. GO annotations related to this gene include structural molecule activity and protein binding, bridging. An important paralog of this gene is SPRR1B.

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 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 at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_004487.20  
Regulatory elements:
   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 plasmidSPRR1A promoter sequence
   Search Chromatin IP Primers for SPRR1A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

(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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SPR1A_HUMAN, P35321 (See protein sequence)
Recommended Name: Cornifin-A  
Size: 89 amino acids; 9877 Da
Secondary accessions: B1AN47 D3DV31 Q2M303 Q9UDG4

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

Explore proteomics data for SPRR1A at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SPRR1A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000357751   ENSP00000307340  

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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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    2 InterPro protein domains:
     IPR026075 SPRR/LCE
     IPR003302 Cornifin

    Graphical View of Domain Structure for InterPro Entry P35321

    ProtoNet protein and cluster: P35321

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


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


    Find genes that share domains with SPRR1A           About GenesLikeMe


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

         UniProtKB/Swiss-Prot Summary: 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)

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity IDA10908733
    GO:0005515protein binding IPI10066784
    GO:0030674protein binding, bridging IDA10908733
         
    Find genes that share ontologies with SPRR1A           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for SPRR1A:
     Increased G1 DNA content 

         1 MGI phenotypic allele for Sprr1a (no phenotypes)

    Find genes that share phenotypes with SPRR1A           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Sprr1atm1Rwu for SPRR1A

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SPRR1A
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    miRNA
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    miRTarBase miRNAs that target SPRR1A:
    hsa-mir-26b-5p (MIRT029568)

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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
    SPR1A_HUMAN, P35321: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol3
    extracellular2

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

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

    Find genes that share ontologies with SPRR1A           About GenesLikeMe


    (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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        Pathway & Disease-focused RT2 Profiler PCR Arrays including SPRR1A: 
              Nephrotoxicity in human mouse rat
              Lung Cancer in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network 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:    About this table

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

    Find genes that share ontologies with SPRR1A           About GenesLikeMe



    (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 SPRR1A (SPR1A)



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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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    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat SPRR1A
      QuantiTect SYBR Green Assays in human, mouse, rat SPRR1A
      QuantiFast Probe-based Assays in human, mouse, rat SPRR1A

    Additional mRNA sequence: 

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

    6 DOTS entries:

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

    Selected AceView cDNA sequences (see all 114):

    NM_005987 AA583900 AW204307 CD704302 AL602972 AA583886 AL602918 BE713212 
    BE925218 BM955459 AW082445 BM955461 BM955472 NM_005416 AW872962 AA595962 
    BM955470 BX505203 AA583834 BE183773 BM955457 AW366290 BM955466 AY118269 

    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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    SPRR1A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SPRR1A Expression
    About this image


    SPRR1A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Thymus (Hematopoietic System)
             Thymus
     
     Lower Urinary Tract (Urinary System)
             Ureter
     
     Lung (Respiratory System)
             Basal Cells Respiratory Bronchioles
     
     Heart (Cardiovascular System)
             Cardiac Fibroblasts Myocardium
     
     Fibroblasts
             Cardiac Fibroblasts Myocardium
    SPRR1A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SPRR1A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.46320
        Pathway & Disease-focused RT2 Profiler PCR Arrays including SPRR1A: 
              Nephrotoxicity in human mouse rat
              Lung Cancer in human mouse rat

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    In Situ
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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 SPRR1A gene from Selected species (see all 4)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sprr1a1 , 5 small proline-rich protein 1A1, 5 79.39(n)1
    80(a)1
      3 (40.14 cM)5
    207531  NM_009264.21  NP_033290.11 
     924839525 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SPRR1A gene
    SPRR1B2  SPRR32  
    4 SIMAP similar genes for SPRR1A using alignment to 1 protein entry:     SPR1A_HUMAN:
    SPRR1B    SPRR3    CCDC157    SPRR4

    Find genes that share paralogs with SPRR1A           About GenesLikeMe



    (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 SPRR1A (see all 124)    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 -- cds11Minor allele frequency- TTTAGTTTTGGC:0.50CSA 2
    rs178870921,2
    C--152954853(+) GCTTT-/AGTTT 
     TGGCTTT
    TCCCT
    2 -- cds1 trp31Minor allele frequency- AGTTTTGGCTTT:0.01NS 158

    HapMap Linkage Disequilibrium report for SPRR1A (152956557 - 152958290 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for SPRR1A:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv508038CNV Loss20534489
    nsv831592CNV Gain17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SPRR1A
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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: 182265    OMIM disorders: --


    Find genes that share disorders with SPRR1A           About GenesLikeMe

    Genetic Association Database (GAD): SPRR1A
    Human Genome Epidemiology (HuGE) Navigator: SPRR1A (2 documents)

    Export disorders for SPRR1A 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 SPRR1A gene, integrated from 10 sources (see all 26):
    (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. (Genomics 1993)
    2. 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)
    3. 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)
    4. 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. (J. Invest. Dermatol. 1995)
    5. 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. (Arch. Oral Biol. 1994)
    6. 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. (J. Neurosci. 2002)
    7. 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. (Gene 1998)
    8. 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. (J. Biol. Chem. 1997)
    9. Single-nucleotide polymorphisms, acute rejection, and severity of tubulitis in kidney transplantation, accounting for center-to-center variation. (PubMed id 21085059)4 Israni A....Oetting W.S. (Transplantation 2010)
    10. Locus 1q21 Gene expression changes in atopic dermatitis skin lesions: deregulation of small proline-rich region 1A. (PubMed id 19672094)1 Jarzab J....Jarzab B. (Int. Arch. Allergy Immunol. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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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: 6698 HGNC: 11259 AceView: SPRR3andSPRR1A Ensembl:ENSG00000169474 euGenes: HUgn6698
    ECgene: SPRR1A H-InvDB: SPRR1A

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

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    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



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