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

SBSN Gene

protein-coding   GIFtS: 43
GCID: GC19M036014

Suprabasin

  Search for SBSN
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for SBSN Gene: 
SBSN (suprabasin) is a protein-coding 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.2  NT_011109.16  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SBSN

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SBSN_HUMAN, Q6UWP8 (See protein sequence)
Recommended Name: Suprabasin precursor  
Size: 590 amino acids; 60541 Da
Subcellular location: Secreted (By similarity)
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q6UWP8

  • SBSN Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

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

    ENSEMBL proteins: 
     ENSP00000468646   ENSP00000430242   ENSP00000428771  

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    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005737cytoplasm IEA--

    SBSN for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, 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, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SBSN 
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SBSN

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SBSN

    Search CenterWatch for drugs/clinical trials and news about 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,
    Conferences by KenesGroup, 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, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    Inhib. RNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SBSN

    Additional mRNA sequence: 

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

    5 DOTS entries:

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

    24/39 AceView cDNA sequences (see all 39):

    BC063640 AI355259 BU632503 CA422771 CA415908 CA417125 BG677763 CF618741 
    BX648076 AI275399 BG742735 AY358701 BF838582 BM986903 NM_198538 CA417552 
    BE158757 AA582963 AW381532 AI092236 AA055699 BF828729 AI970748 BE182079 

    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™, 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

    SBSN expression in normal human tissues (normalized intensities)      SBSN embryonic expression: see
    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 
     5/18 selected tissues (see all 18) fully expand
     
     Adipose (Muscoskeletal System)    fully expand to see all 3 entries
             Visceral White Adipose
             Human Preadipocyte-visceral (HPA-v)   
     
     Epithelium (Uncategorized)    fully expand to see all 3 entries
             Human Bronchial Epithelial Cells (HBEpiC)   
     
     Nose (Sensory Organs)    fully expand to see all 2 entries
             sensory organ/nose/naris   
     
     Fibroblast
             Human Cardiac Fibroblasts-adult ventrical (HCF-av)   
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             Human Bronchial Epithelial Cells (HBEpiC)   

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

    SOURCE GeneReport for Unigene cluster: Hs.433484

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

        SABiosciences Custom PCR Arrays for SBSN
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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)
    About This Section

    This gene was present in the common ancestor of human and mouse.

    Orthologs for SBSN gene from 1/6 species (see all 6)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sbsn1 , 5 suprabasin1, 5 72.3(n)1
    56.29(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)
    About This Section
      --

    (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) 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

    10/214 SNPs in SBSN are shown (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

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    SBSN for disorders           About MalaCards
    OMIM gene information: 609969    OMIM disorders: --


    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)
    About This Section

    PubMed articles for SBSN gene, integrated from 9 sources (see all 16):
    (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. (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. (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. (2004)
    4. Identification of a conserved cluster of skin-specific genes encoding secreted proteins. (PubMed id 15256262)1, 9 Moffatt P....Lanctot C. (2004)
    5. Suprabasin is hypomethylated and associated with metas tasis in salivary adenoid cystic carcinoma. (PubMed id 23144906)1 Shao C....Ha P.K. (2012)
    6. Dose-dependent activation of putative oncogene SBSN by BORIS. (PubMed id 22792300)1 Gaykalova D....Califano J.A. (2012)
    7. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    8. Large-scale identification of human genes implicated in epidermal barrier function. (PubMed id 17562024)1 Toulza E.... Guerrin M. (2007)
    9. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 374897 HGNC: 24950 AceView: UNQ698 Ensembl:ENSG00000189001 euGenes: HUgn374897
    ECgene: SBSN H-InvDB: SBSN

    (According to HUGE)
    About This Section
      --

    (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 SBSN Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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     Proteins for SBSN
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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