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

SBSN Gene

protein-coding   GIFtS: 44
GCID: GC19M036014

suprabasin
  Search for SBSN
in
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SBSN    

Aliases
for SBSN gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Suprabasin1
HLAR6981 2
UNQ6981 2

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


Summaries
for SBSN gene

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

Genomic Views
for SBSN 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_000019.9  NC_018930.1  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 plasmid: SBSN 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

Proteins
for SBSN 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: 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q6UWP8

    • SBSN Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000468646   ENSP00000430242   ENSP00000428771  

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    Uscn Proteins for SBSN

    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 ----


    SBSN for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for SBSN gene

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

    1 InterPro domain/family:
     IPR024153 Suprabasin

    Graphical View of Domain Structure for InterPro Entry Q6UWP8

    ProtoNet protein and cluster: Q6UWP8


    Function
    for SBSN gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

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

    miRNA
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    Inhib. RNA
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    Animal Models:
         Mouse knock-out Sbsntm1Lex for SBSN
         1 MGI phenotypic allele for Sbsn (no phenotypes)

    SBSN for phenotypes           About GeneDecksing


    Pathways & Interactions
    for SBSN 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 SBSN

    Drugs & Compounds
    for SBSN 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
    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 

    Transcripts
    for SBSN 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,
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    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
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000588674 ENST00000452271(uc002oad.2) ENST00000518157(uc002oae.2 uc021usp.1)
    ENST00000592213

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    Inhib. RNA
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    Clone
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    Additional cDNA 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 CA422771 BU632503 BF838582 CF618741 NM_198538 AI275399 
    BE158757 CA417552 AY358701 BX648076 AA582963 BG742735 BG677763 BM986903 
    CA417125 CA415908 AA055367 BE182079 AA055699 AI970748 BF828729 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

    Expression
    for SBSN 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

    SBSN expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACCTGGAGGG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    SBSN 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)
    AdiposeVisceral White AdiposeVisceral White AdipocytesAdipose
    AdiposeVisceral White AdiposeAdipose
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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

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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SBSN

    Orthologs
    for SBSN 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
    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 
     307514715 


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

    Paralogs
    for SBSN gene

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

    Genomic Variants
    for SBSN 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

    10/156 NCBI SNPs in SBSN are shown (see all 156)     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
    		--36013981(+) CCTGGA/GCCCAG 3 -- int10--------
    rs1884629171,2
    		--36014014(+) GTCCCC/TACGAG 3 -- int10--------
    rs1133032301,2
    		--36014102(+) TTGTCC/TCCATT 3 -- int12Minor allele frequency- T:0.05CSA WA 120
    rs1502209241,2
    		--36014148(+) CAGCTC/TAACCC 3 -- int10--------
    rs1926868341,2
    		--36014218(+) CCTGCC/TTCCCT 3 -- int10--------

    HapMap Linkage Disequilibrium report for SBSN (36014269 - 36019253 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for SBSN
         1 CNV: 67535

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    Disorders / Diseases
    for SBSN gene

    (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.)
    About This Section
    SBSN for disorders           About MalaCards

    SBSN for disorders           About GeneDecksing

    OMIM gene information: 609969    OMIM disorders: --


    Export disorders for SBSN gene to outside databases

    Publications
    for SBSN 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 SBSN gene, integrated from 9 sources (see all 14):
    (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. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    6. Large-scale identification of human genes implicated in epidermal barrier function. (PubMed id 17562024)1 Toulza E.... Guerrin M. (2007)
    7. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    8. 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)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
    10. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)2 Grimwood J.... Lucas S.M. (2004)

    External Searches for SBSN gene

    (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)

    Genome Databases showing SBSN gene

    (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

    Other Databases showing SBSN gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SBSN 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 SBSN Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for SBSN gene

    (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



    Products
    for SBSN gene

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    About This Section

     
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