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SPRR4 Gene

protein-coding   GIFtS: 37
GCID: GC01P152943

Small Proline-Rich Protein 4

  Search for SPRR4
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 41 2
Small Proline Rich Protein 42

External Ids:    HGNC: 231731   Entrez Gene: 1637782   Ensembl: ENSG000001841487   UniProtKB: Q96PI13   

Export aliases for SPRR4 gene to outside databases

Previous GC identifers: GC01M148727 GC01P149718 GC01P150159 GC01P149756 GC01P151209 GC01P124306


(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 SPRR4 Gene:
SPRR4 (small proline-rich protein 4) is a protein-coding gene.

UniProtKB/Swiss-Prot: SPRR4_HUMAN, Q96PI1
Function: Cross-linked envelope protein of keratinocytes. Involved in UV-induced cornification




(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 SPRR4 gene promoter:
         HOXA9B   ER-alpha   ISGF-3   NCX/Ncx   Olf-1   FOXC1   SEF-1 (1)   Meis-1a   En-1   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSPRR4 promoter sequence
   Search Chromatin IP Primers for SPRR4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SPRR4


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

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

SPRR4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPRR4 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P152943:  view genomic region     (about GC identifiers)

Start:
152,943,128 bp from pter      End:
152,945,069 bp from pter
Size:
1,942 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: SPRR4_HUMAN, Q96PI1 (See protein sequence)
Recommended Name: Small proline-rich protein 4  
Size: 79 amino acids; 8793 Da
Secondary accessions: Q2M1Y7 Q5T522

Explore the universe of human proteins at neXtProt for SPRR4: NX_Q96PI1

Explore proteomics data for SPRR4 at MOPED

Post-translational modifications: 

  • Cross-linked to membrane proteins by transglutaminase (Probable)1
  • Modification sites at neXtProt

  • See SPRR4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_775103.1  
    ENSEMBL proteins: 
     ENSP00000332163  

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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 Q96PI1

    ProtoNet protein and cluster: Q96PI1

    UniProtKB/Swiss-Prot: SPRR4_HUMAN, Q96PI1
    Similarity: Belongs to the cornifin (SPRR) family


    Find genes that share domains with SPRR4           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: SPRR4_HUMAN, Q96PI1
    Function: Cross-linked envelope protein of keratinocytes. Involved in UV-induced cornification
    Induction: By UV irradiation

    Animal Models:

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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
    SPRR4_HUMAN, Q96PI1: Cytoplasm. Cytoplasm, cell cortex. Note=Translocates to the cell periphery of keratinocytes
    and is integrated into both rigid and fragile cornified envelopes
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    extracellular3
    cytoskeleton1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005938cell cortex IEA--

    Find genes that share ontologies with SPRR4           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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SPRR4
    Interactions:

        Search GeneGlobe Interaction Network for SPRR4

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0018149peptide cross-linking IEA--
    GO:0031424keratinization IEA--

    Find genes that share ontologies with SPRR4           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 SPRR4



    (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 SPRR4 gene: 
    NM_173080.1  

    Unigene Cluster for SPRR4:

    Small proline-rich protein 4
    Hs.433629  [show with all ESTs]
    Unigene Representative Sequence: BG190758
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000328051(uc001fav.1)
    miRNA
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    Additional mRNA sequence: 

    BC069445.1 BC069549.1 BC112170.1 BC112172.1 

    2 DOTS entries:

    DT.95113183  DT.209448 

    22 AceView cDNA sequences:

    AA339786 AI250771 AI125483 BG181820 W73951 NM_173080 BC069549 W94063 
    BC069445 W77994 AA777158 AI161017 AA912611 AW961118 BG190758 AA339877 
    AI265865 BE716625 BE716719 BF371044 BE838395 BE716636 

    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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    SPRR4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SPRR4 Expression
    About this image

    SPRR4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SPRR4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.433629
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPRR4

    (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 SPRR4 gene from Selected species (see all 2)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sprr45 small proline-rich protein 4   --   3 (40.14 cM) 92500263 


    ENSEMBL Gene Tree for SPRR4 (if available)
    TreeFam Gene Tree for SPRR4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SPRR4 gene
    3 SIMAP similar genes for SPRR4 using alignment to 1 protein entry:     SPRR4_HUMAN:
    SPRR1B    SPRR1A    PRR9

    Find genes that share paralogs with SPRR4           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 SPRR4 (see all 119)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs670415151,2
    C--152944055(+) TCTCT-/CACA  
            
    CACAC
    1 -- int10--------
    rs798833431,2
    --152944056(+) CTCTCT/ACACAC 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs1864768731,2
    --159442546(+) TGAAAC/TTGGGA 1 -- us2k10--------
    rs1157243371,2
    C,F--159442588(+) CACATG/TGGTGA 1 -- us2k11Minor allele frequency- T:0.04WA 118
    rs716267431,2
    C,F--159442612(+) GATGGA/GGCTGC 1 -- us2k13Minor allele frequency- G:0.06NA 124
    rs1905239011,2
    --159442618(+) GCTGCC/TCATCT 1 -- us2k10--------
    rs125645271,2
    C,F,H--159442632(+) CACAGG/TCAATA 1 -- us2k123Minor allele frequency- T:0.09NS EA NA WA 2764
    rs8838101,2
    C,F,A,H--159442668(-) CATATA/GCCTGG 1 -- us2k127Minor allele frequency- G:0.49NA NS EA WA CSA 2645
    rs578779621,2
    C,F--159442696(+) TCCATA/GCAAAT 1 -- us2k14Minor allele frequency- G:0.41WA CSA 124
    rs1180786811,2
    C,F--159442710(+) TCTTGC/TTGCGT 1 -- us2k11Minor allele frequency- T:0.03EA 120

    HapMap Linkage Disequilibrium report for SPRR4 (152943128 - 152945069 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for SPRR4:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv831592CNV Gain17160897

    Site Specific Mutation Identification with PCR Assays
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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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      --

    (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 SPRR4 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with SPRR4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. SPRR4, a novel cornified envelope precursor: UV-dependent epidermal expression and selective incorporation into fragile envelopes. (PubMed id 11719550)1, 2, 3 Cabral A....Backendorf C. (J. Cell Sci. 2001)
    2. Structural organization and regulation of the small proline-rich family of cornified envelope precursors suggest a role in adaptive barrier function. (PubMed id 11279051)1, 3, 9 Cabral A....Backendorf C. (J. Biol. Chem. 2001)
    3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    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. (Genome Res. 2004)
    5. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
    6. 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. (Exp. Dermatol. 2009)
    7. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 163778 HGNC: 23173 AceView: SPRR4 Ensembl:ENSG00000184148 euGenes: HUgn163778
    ECgene: SPRR4 H-InvDB: SPRR4

    (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 SPRR4 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SPRR4 gene:
    Search GeneIP for patents involving SPRR4

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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