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SPRR1B Gene

protein-coding   GIFtS: 55
GCID: GC01P153003

Small Proline-Rich Protein 1B


(Previous symbol: SPRR1)
  See SPRR1B-related disease
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 1B1 2     cornifin1
SPRR11 2     CORNIFIN2
Small Proline-Rich Protein IB2 3     GADD332
14.9 KDa Pancornulin2 3     Cornifin B2
SPR-IB2 3     cornifin-B2

External Ids:    HGNC: 112601   Entrez Gene: 66992   Ensembl: ENSG000001694697   OMIM: 1822665   UniProtKB: P225283   

Export aliases for SPRR1B gene to outside databases

Previous GC identifers: GC01P150819 GC01P148786 GC01P149778 GC01P150220 GC01P149816 GC01P151270 GC01P124366


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

UniProtKB/Swiss-Prot: SPR1B_HUMAN, P22528
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. Can function as both amine donor and acceptor
in transglutaminase-mediated cross-linkage

Gene Wiki entry for SPRR1B 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 SPRR1B gene promoter:
         TBP   Sp1   AP-1   C/EBPalpha   AREB6   CHOP-10   Zic1   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSPRR1B promoter sequence
   Search Chromatin IP Primers for SPRR1B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SPRR1B


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

SPRR1B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPRR1B gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P153003:  view genomic region     (about GC identifiers)

Start:
153,003,678 bp from pter      End:
153,005,376 bp from pter
Size:
1,699 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: SPR1B_HUMAN, P22528 (See protein sequence)
Recommended Name: Cornifin-B  
Size: 89 amino acids; 9888 Da
Developmental stage: Expressed during differentiation of squamous cells
Secondary accessions: B2R5H7 P22529 P22530 Q5T524

Explore the universe of human proteins at neXtProt for SPRR1B: NX_P22528

Explore proteomics data for SPRR1B at MOPED

Post-translational modifications: 

  • The N-terminus is blocked1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SPRR1B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003116.2  
    ENSEMBL proteins: 
     ENSP00000306461   ENSP00000376429  

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    antibodies-online proteins for SPRR1B (5 products) 

     
    antibodies-online peptides for SPRR1B

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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 P22528

    ProtoNet protein and cluster: P22528

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


    UniProtKB/Swiss-Prot: SPR1B_HUMAN, P22528
    Similarity: Belongs to the cornifin (SPRR) family


    Find genes that share domains with SPRR1B           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: SPR1B_HUMAN, P22528
    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. Can function as both amine donor and acceptor
    in transglutaminase-mediated cross-linkage
    Induction: By carcinogenic agents and by UV light. During squamous differentiation of epidermal keratinocytes

         Genatlas biochemistry entry for SPRR1B:
    small proline rich protein 1B,14kDa,precursor of cornified cell envelope,cornifin,clustered in the epidermal
    differentiation complex (EDC)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity IDA10908733
    GO:0030674protein binding, bridging IDA10908733
         
    Find genes that share ontologies with SPRR1B           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for SPRR1B:
     Decreased circadian period len 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for SPRR1B

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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
    SPR1B_HUMAN, P22528: 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 SPRR1B           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 SPRR1B
    Interactions:

        Search GeneGlobe Interaction Network for SPRR1B

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

    2 Interacting proteins for SPRR1B (P225283 ENSP000003064614) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ESR2Q927313, ENSP000003439254I2D: score=1 STRING: ENSP00000343925
    USF2Q158533, ENSP000002223054I2D: score=1 STRING: ENSP00000222305
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008544epidermis development TAS1627333
    GO:0018149peptide cross-linking IDA10908733
    GO:0030216keratinocyte differentiation IDA10908733
    GO:0031424keratinization IEA--

    Find genes that share ontologies with SPRR1B           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 SPRR1B (SPR1B)

    5 Novoseek inferred chemical compound relationships for SPRR1B gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinoic acid 57.6 8 8370963 (3), 10389939 (2), 11205873 (1), 8747384 (1) (see all 5)
    proline 50.5 4 8809402 (1), 1438308 (1), 7593315 (1)
    diethylstilbestrol 43.7 1 8912806 (1)
    dexamethasone 5.48 1 8912806 (1)
    calcium 0 1 8618063 (1)



    Find genes that share compounds with SPRR1B           About GenesLikeMe



    (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 SPRR1B gene: 
    NM_003125.2  

    Unigene Cluster for SPRR1B:

    Small proline-rich protein 1B
    Hs.1076  [show with all ESTs]
    Unigene Representative Sequence: AI541215
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000307098(uc001fba.3) ENST00000392661
    miRNA
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      Search QuantiFast Probe-based Assays in human, mouse, rat SPRR1B

    Additional mRNA sequence: 

    AK312191.1 BC056240.1 DQ323996.1 M19888.1 M21300.1 M21301.1 

    5 DOTS entries:

    DT.312392  DT.121443262  DT.95160284  DT.95160281  DT.95259492 

    Selected AceView cDNA sequences (see all 82):

    AA587019 AA587163 CK300778 AW137292 W77949 AA447684 AI368120 BQ189648 
    W72751 BV178563 BC056240 AA122335 AI285828 T28446 BG220727 BM968490 
    AA582893 BG319578 M19888 BF155552 BX119256 BE932410 AI275891 AI588998 

    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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    SPRR1B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCCTTGAGGA
    SPRR1B Expression
    About this image


    SPRR1B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Lung (Respiratory System)
             Basal Cells Respiratory Bronchioles
     
     Adipose (Muscoskeletal System)
             Interscapular Brown Adipose Depot
     
     Tonsil (Hematopoietic System)
     
     Larynx (Respiratory System)
    SPRR1B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SPRR1B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.1076

    UniProtKB/Swiss-Prot: SPR1B_HUMAN, P22528
    Tissue specificity: Suprabasal layers of squamous-differentiated tissues such as epidermis, esophagus, tongue and
    trachea

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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 SPRR1B gene from Selected species (see all 3)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sprr1b5 small proline-rich protein 1B   --   3 (40.14 cM) 92436809 


    ENSEMBL Gene Tree for SPRR1B (if available)
    TreeFam Gene Tree for SPRR1B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SPRR1B gene
    SPRR1A2  SPRR32  
    4 SIMAP similar genes for SPRR1B using alignment to 2 protein entries:     SPR1B_HUMAN (see all proteins):
    SPRR1A    SPRR3    SPRR4    TTN

    Find genes that share paralogs with SPRR1B           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 SPRR1B (see all 153)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1393694961,2
    --153001683(+) TGAAAG/TCTCCC 1 -- us2k10--------
    rs38062201,2
    C,F,H--153001688(+) GCTCCC/GCCAAG 1 -- us2k112Minor allele frequency- G:0.12NS EA CSA WA 1658
    rs795800951,2
    C,F--153001769(+) CCTGGG/ACCTGG 1 -- us2k12Minor allele frequency- A:0.04WA EA 238
    rs1432799151,2
    C--153001776(+) CTGGCA/GGCATG 1 -- us2k10--------
    rs1475189151,2
    --153001828(+) ATCCCA/TCCATA 1 -- us2k10--------
    rs1400597401,2
    --153001831(+) CCACCA/CTATTG 1 -- us2k10--------
    rs1914349711,2
    --153001846(+) CAAAGC/TGTGCT 1 -- us2k10--------
    rs774161591,2
    C,F--153001869(+) CGTAGG/AGTCTA 1 -- us2k11Minor allele frequency- A:0.03NA 120
    rs1428954611,2
    --153001958(+) GTGGCC/GACAGA 1 -- us2k10--------
    rs1847506771,2
    --153001975(+) TGAGGC/TGACTA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for SPRR1B (153003678 - 153005376 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for SPRR1B: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SPRR1B
    DNA2.0 Custom Variant and Variant Library Synthesis for SPRR1B

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 182266    OMIM disorders: --

    1 disease for SPRR1B:    
    About MalaCards
    epidermolytic hyperkeratosis

    2 diseases from the University of Copenhagen DISEASES database for SPRR1B:
    Cholesteatoma     Epidermolytic hyperkeratosis

    Find genes that share disorders with SPRR1B           About GenesLikeMe

    6 Novoseek inferred disease relationships for SPRR1B gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    metaplasia 54.6 4 8624253 (2), 20042643 (1), 8370963 (1)
    cervical intraepithelial neoplasia 36.4 1 10389939 (1)
    premalignant 30 1 7698221 (1)
    carcinoma squamous cell 21 1 7698221 (1)
    skin diseases 16.3 1 11069449 (1)
    tumors 0 2 7698221 (2)

    Genetic Association Database (GAD): SPRR1B
    Human Genome Epidemiology (HuGE) Navigator: SPRR1B (1 document)

    Export disorders for SPRR1B 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 SPRR1B gene, integrated from 10 sources (see all 58):
    (articles sorted by number of sources associating them with SPRR1B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cornifin, a cross-linked envelope precursor in keratinocytes that is down-regulated by retinoids. (PubMed id 1438308)1, 3, 9 Marvin K.W....Jetten A.M. (Proc. Natl. Acad. Sci. U.S.A. 1992)
    2. Molecular characterization and evolution of the SPRR family of keratinocyte differentiation markers encoding small proline-rich proteins. (PubMed id 8325635)1, 3, 9 Gibbs S.... Backendorf C. (Genomics 1993)
    3. 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)
    4. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    5. 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)
    6. 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)
    7. Isolation and characterization of the human spr1 gene and its regulation of expression by phorbol ester and cyclic AMP. (PubMed id 8388378)1, 2 An G. and Wu R. (J. Biol. Chem. 1993)
    8. Isolation, characterization, and UV-stimulated expression of two families of genes encoding polypeptides of related structure in human epidermal keratinocytes. (PubMed id 3133554)1, 2 Kartasova T. and van de Putte P. (Mol. Cell. Biol. 1988)
    9. Small proline-rich protein 1B (SPRR1B) is a biomarker for squamous metaplasia in dry eye disease. (PubMed id 18172072)1, 9 Li S....McNamara N.A. (amp 2008)
    10. Cloning and regulation of cornifin beta, a new member of the cornifin/spr family. Suppression by retinoic acid receptor-selective retinoids. (PubMed id 8631988)1, 9 Austin S.J....Jetten A.M. (J. Biol. Chem. 1996)

    (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: 6699 HGNC: 11260 AceView: SPRR1B Ensembl:ENSG00000169469 euGenes: HUgn6699
    ECgene: SPRR1B H-InvDB: SPRR1B

    (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 SPRR1B Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SPRR1B Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/sprr1b/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SPRR1B gene:
    Search GeneIP for patents involving SPRR1B

    GeneCards and IP:
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