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SBSN Gene

protein-coding   GIFtS: 45
GCID: GC19M036014

Suprabasin

  See related diseases
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
suprabasin1 2
HLAR6982
UNQ6982

External Ids:    HGNC: 249501   Entrez Gene: 3748972   Ensembl: ENSG000001890017   OMIM: 6099695   UniProtKB: Q6UWP83   

Export aliases for SBSN gene to outside databases

Previous GC identifers: GC19M040708 GC19M032519


(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 SBSN Gene:
SBSN (suprabasin) is a protein-coding gene. Diseases associated with SBSN include adenoid cystic carcinoma, and adenoiditis.


(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:
NC_000019.10  NC_018930.2  NT_011109.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the SBSN gene promoter:
         RP58   AML1a   NCX/Ncx   HNF-4alpha2   E47   HNF-4alpha1   POU2F1   POU2F1a   Cart-1   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSBSN promoter sequence
   Search Chromatin IP Primers for SBSN

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


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

Entrez Gene cytogenetic band: 19q13.13   Ensembl cytogenetic band:  19q13.12   HGNC cytogenetic band: 19q13.13

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

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M036014:  view genomic region     (about GC identifiers)

Start:
36,014,269 bp from pter      End:
36,019,253 bp from pter
Size:
4,985 bases      Orientation:
minus 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., 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: SBSN_HUMAN, Q6UWP8 (See protein sequence)
Recommended Name: Suprabasin precursor  
Size: 590 amino acids; 60541 Da
Secondary accessions: A8K5J0 E9PBV3
Alternative splicing: 2 isoforms:  Q6UWP8-1   Q6UWP8-2   

Explore the universe of human proteins at neXtProt for SBSN: NX_Q6UWP8

Explore proteomics data for SBSN at MOPED

Post-translational modifications: 

  • Glycosylation2 at Thr59
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (3 alternative transcripts): 
    NP_001159506.1  NP_001159507.1  NP_940940.1  

    ENSEMBL proteins: 
     ENSP00000468646   ENSP00000430242   ENSP00000428771  

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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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    1 InterPro protein domain:
     IPR024153 Suprabasin

    Graphical View of Domain Structure for InterPro Entry Q6UWP8

    ProtoNet protein and cluster: Q6UWP8


    SBSN for domains           About GeneDecksing


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

         UniProtKB/Swiss-Prot Summary: SBSN_HUMAN, Q6UWP8
    Induction: Up-regulated in differentiating keratinocytes

    Phenotypes:
         1 MGI phenotypic allele for Sbsn (no phenotypes)


    SBSN for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Sbsntm1Lex for SBSN

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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
    SBSN_HUMAN, Q6UWP8: Secreted (By similarity)

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region ----
    GO:0005737cytoplasm IEA--
    GO:0070062extracellular vesicular exosome IDA19199708

    SBSN for ontologies           About GeneDecksing


    (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 SBSN
    Interactions:

        Search GeneGlobe Interaction Network for SBSN

    (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 SBSN



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SBSN gene (3 alternative transcripts): 
    NM_001166034.1  NM_001166035.1  NM_198538.3  

    Unigene Cluster for SBSN:

    Suprabasin
    Hs.433484  [show with all ESTs]
    Unigene Representative Sequence: NM_001166034
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000588674 ENST00000452271(uc002oad.2) ENST00000518157(uc002oae.2 uc021usp.1)

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    Additional mRNA sequence: 

    AK291305.1 AY358701.1 BC063640.1 BX648076.1 

    5 DOTS entries:

    DT.101981939  DT.101981938  DT.91681051  DT.70101273  DT.95242553 

    Selected AceView cDNA sequences (see all 39):

    BU632503 BC063640 AI355259 CA422771 CA417552 CA417125 AY358701 BG677763 
    CF618741 NM_198538 AA582963 BX648076 BM986903 AI275399 BG742735 BF838582 
    BE158757 CA415908 BF828729 AI970748 AW381532 AI092236 AA055367 AI814274 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for SBSN    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4
    SP1:                                    
    SP2:              -                     


    ECgene alternative splicing isoforms for SBSN

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


    SBSN expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Adipose (Muscoskeletal System)
             Visceral White Adipose
     
     Liver (Hepatobiliary System)
             Mature Mesothelial Cells Hepatic Mesenchyme
     
     Bone (Muscoskeletal System)
     
     Placenta (Extraembryonic Tissues)
     
     Larynx (Respiratory System)
    SBSN Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SBSN Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.433484

    UniProtKB/Swiss-Prot: SBSN_HUMAN, Q6UWP8
    Tissue specificity: Detected in thymus, uterus and esophagus

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SBSN

    (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 SBSN gene from Selected species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sbsn1 , 5 suprabasin1, 5 72.44(n)1
    56.1(a)1
      7 (19.24 cM)5
    2826191  NM_172205.31  NP_757342.21 
     307347395 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (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 SBSN (see all 214)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs133456811,2
    C,F,H--36013863(+) atgtcA/Ctgcag 3 -- int122Minor allele frequency- C:0.10NS EA NA WA 2640
    rs1824981731,2
    --36013917(+) TAAATA/GCAAGT 3 -- int10--------
    rs599494441,2
    C--36013945(+) TGGCG-/CCCCCCA 3 -- int10--------
    rs2002286021,2
    --36013950(+) CCCCC-/CACCCCC 3 -- int10--------
    rs1480921071,2
    --36013976(+) TACCTC/TCTGGG 3 -- int10--------
    rs1409703831,2
    C--36013981(+) CCTGGA/GCCCAG 3 -- int10--------
    rs1884629171,2
    --36014014(+) GTCCCC/TACGAG 3 -- int10--------
    rs1133032301,2
    F--36014102(+) TTGTCC/TCCATT 3 -- int12Minor allele frequency- T:0.05CSA WA 120
    rs1502209241,2
    --36014148(+) CAGCTC/TAACCC 3 -- int10--------
    rs1926868341,2
    C--36014218(+) CCTGCC/TTCCCT 3 -- int10--------

    HapMap Linkage Disequilibrium report for SBSN (36014269 - 36019253 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for SBSN:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1366374CNV Deletion17803354
    esv1003511CNV Deletion20482838
    esv2718498CNV Deletion23290073
    esv27260CNV Loss19812545
    nsv911628CNV Loss21882294
    nsv833811CNV 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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    OMIM gene information: 609969    OMIM disorders: --

    3 diseases for SBSN:    
    About MalaCards
    adenoid cystic carcinoma    adenoiditis    hepatitis


    SBSN for disorders           About GeneDecksing


    Export disorders for SBSN 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 SBSN gene, integrated from 10 sources (see all 17):
    (articles sorted by number of sources associating them with SBSN)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Suprabasin, a novel epidermal differentiation marker and potential cornified envelope precursor. (PubMed id 12228223)1, 2, 3, 9 Park G.T.... Morasso M.I. (J. Biol. Chem. 2002)
    2. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (Genome Res. 2003)
    3. Identification of novel keratinocyte-secreted peptides dermokine- alpha/-beta and a new stratified epithelium-secreted protein gene complex on human chromosome 19q13.1. (PubMed id 15234001)1, 9 Matsui T.... Tsukita S. (Genomics 2004)
    4. Identification of a conserved cluster of skin-specific genes encoding secreted proteins. (PubMed id 15256262)1, 9 Moffatt P....LanctA't C. (Gene 2004)
    5. Suprabasin is hypomethylated and associated with metastasis in salivary adenoid cystic carcinoma. (PubMed id 23144906)1 Shao C....Ha P.K. (PLoS ONE 2012)
    6. Dose-dependent activation of putative oncogene SBSN by BORIS. (PubMed id 22792300)1 Gaykalova D....Califano J.A. (PLoS ONE 2012)
    7. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    8. Proteomic analysis of human parotid gland exosomes by multidimensional protein identification technology (MudPIT). (PubMed id 19199708)1 Gonzalez-Begne M....Yates J.R. (J. Proteome Res. 2009)
    9. Large-scale identification of human genes implicated in epidermal barrier function. (PubMed id 17562024)1 Toulza E.... Guerrin M. (Genome Biol. 2007)
    10. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)

    (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: 374897 HGNC: 24950 AceView: UNQ698 Ensembl:ENSG00000189001 euGenes: HUgn374897
    ECgene: SBSN H-InvDB: SBSN

    (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 SBSN 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 SBSN gene:
    Search GeneIP for patents involving SBSN

    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, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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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