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

SPRR1B Gene

protein-coding   GIFtS: 53
GCID: GC01P153003

small proline-rich protein 1B


(Previous symbol: SPRR1)
 Explore 18 diseases affiliated with
SPRR1B via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SPRR1B    

Aliases
for SPRR1B 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 1B1 2     SPR-IB2 3
GADD331 2     CORNIFIN2
SPRR11 2     Cornifin B2
Small Proline-Rich Protein IB2 3     Cornifin-B1
14.9 KDa Pancornulin2 3     

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


Summaries
for SPRR1B 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: 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


Genomic Views
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 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 SPRR1B gene promoter:
         TBP   Sp1   AP-1   C/EBPalpha   AREB6   CHOP-10   Zic1   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SPRR1B promoter sequence
   Search SABiosciences Chromatin IP Primers for SPRR1B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for SPRR1B 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: SPR1B_HUMAN, P22528 (See protein sequence)
Recommended Name: Cornifin-B  
Size: 89 amino acids; 9888 Da
Subcellular location: Cytoplasm
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

Post-translational modifications:

  • The N-terminus is blocked1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P22528

    • SPRR1B Protein expression data from MOPED and PaxDb:    About this image 
    SPRR1B Protein Expression
    REFSEQ proteins: NP_003116.2  
    ENSEMBL proteins: 
     ENSP00000306461   ENSP00000376429  

    Human Recombinant Protein Products for SPRR1B: 
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    Uscn Proteins for SPRR1B

    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--

    SPRR1B for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for SPRR1B

    Protein Domains /
    Families
    for SPRR1B gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SPRR1B for domains           About GeneDecksing

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

    Graphical View of Domain Structure for InterPro Entry P22528

    ProtoNet protein and cluster: P22528

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


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


    Function
    for SPRR1B 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity IDA10908733
    GO:0030674protein binding, bridging IDA10908733
         
    SPRR1B for ontologies           About GeneDecksing


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

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for SPRR1B 

    miRNA
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    Gene Editing
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    Cell Line
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    In Situ Assay
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    Pathways & Interactions
    for SPRR1B 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 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 (GO ID links to tree view):    About this table

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

    SPRR1B for ontologies           About GeneDecksing



    Drugs & Compounds
    for SPRR1B 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

    SPRR1B for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SPRR1B
    5 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about SPRR1B / SPR1B 

    Transcripts
    for SPRR1B 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, Sirion Biotech, 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 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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    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 SPRR1B
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    Additional cDNA 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 

    24/82 AceView cDNA sequences (see all 82):

    AA587163 AA587019 AW137292 W77949 CK300778 AI368120 AI285828 BV178563 
    W72751 BG319578 BG220727 BM968490 T28446 BQ189648 AA122335 BC056240 
    AA582893 AA447684 BX119256 M21300 AA121081 AI275891 AI588998 BE932410 

    GeneLoc Exon Structure


    Expression
    for SPRR1B 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

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

    SPRR1B expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LungRespiratory BronchiolesBasal CellsLung
    AdiposeInterscapular Brown Adipose DepotAdipose
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See SPRR1B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SPRR1B

    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
    Assay Products:     
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    Orthologs
    for SPRR1B 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 SPRR1B (if available)
    TreeFam Gene Tree for SPRR1B (if available) 

    Paralogs
    for SPRR1B gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SPRR1B gene
    SPRR42  SPRR2F2  SPRR2B2  SPRR2D2  SPRR2G2  SPRR2A2  SPRR1A2  SPRR2E2  
    LELP12  SPRR32  
    4 SIMAP similar genes for SPRR1B using alignment to 2 protein entries:     SPR1B_HUMAN (see all proteins):
    SPRR1A    SPRR3    SPRR4    TTN

    SPRR1B for paralogs           About GeneDecksing



    Genomic Variants
    for SPRR1B 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

    10/128 NCBI SNPs in SPRR1B are shown (see all 128)     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
    		F--153001769(+) CCTGGG/ACCTGG 1 -- us2k12Minor allele frequency- A:0.04WA EA 238
    rs1432799151,2
    		--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
    		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 (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SPRR1B: --

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    Disorders / Diseases
    for SPRR1B gene

    (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.)
    About This Section
    SPRR1B for disorders           About GeneDecksing

    OMIM gene information: 182266    OMIM disorders: --

    18 diseases for SPRR1B:    About MalaCards
    cervical intraepithelial neoplasia    epidermolytic hyperkeratosis    ichthyosis vulgaris    verrucous carcinoma
    atopic dermatitis    skin disease    eye disease    ichthyosis
    cholesteatoma    dermatitis    cervicitis    vaginitis
    gastric cancer    lung carcinoma    psoriasis    carcinoma
    esophagitis    alcoholism

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

    6 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: SPRR1B (1 document)

    Export disorders for SPRR1B gene to outside databases

    Publications
    for SPRR1B 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 SPRR1B gene, integrated from 9 sources (see all 57):
    (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. (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. (1993)
    3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (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. (2004)
    5. 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)
    6. 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. (1993)
    7. 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. (1988)
    8. 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. (2008)
    9. 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. (1996)
    10. Systematic analysis of human protein complexes identi fies chromosome segregation proteins. (PubMed id 20360068)1 Hutchins J.R....Peters J.M. (2010)

    External Searches for SPRR1B gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing SPRR1B gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6699 HGNC: 11260 AceView: SPRR1B Ensembl:ENSG00000169469 euGenes: HUgn6699
    ECgene: SPRR1B H-InvDB: SPRR1B

    Other Databases showing SPRR1B gene

    (According to HUGE)
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    Specialized Databases showing SPRR1B 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 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/

    Intellectual Property
    for SPRR1B gene

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    		Patent Information for SPRR1B gene:
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