Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

SHARPIN Gene

protein-coding   GIFtS: 57
GCID: GC08M145153

SHANK-Associated RH Domain Interactor

  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)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
SHANK-Associated RH Domain Interactor1 2
SIPL12 3 5
Shank-Associated RH Domain-Interacting Protein2 3
Shank-Interacting Protein-Like 12 3
hSIPL12 3
sharpin2

External Ids:    HGNC: 253211   Entrez Gene: 818582   Ensembl: ENSG000001795267   OMIM: 6118855   UniProtKB: Q9H0F63   
ORGUL members:         
NONCODE14:n410816      

Export aliases for SHARPIN gene to outside databases

Previous GC identifers: GC08M145226 GC08M140429


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

GeneCards Summary for SHARPIN Gene: 
SHARPIN (SHANK-associated RH domain interactor) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with SHARPIN include sporadic breast cancer, and acne. GO annotations related to this gene include identical protein binding and polyubiquitin binding. An important paralog of this gene is RBCK1.

UniProtKB/Swiss-Prot: SHRPN_HUMAN, Q9H0F6
Function: Component of the LUBAC complex which conjugates linear polyubiquitin chains in a head-to-tail manner to
substrates and plays a key role in NF-kappa-B activation and regulation of inflammation. LUBAC conjugates linear
polyubiquitin to IKBKG and RIPK1 and is involved in activation of the canonical NF-kappa-B and the JNK signaling
pathways. Linear ubiquitination mediated by the LUBAC complex interferes with TNF-induced cell death and thereby
prevents inflammation. LUBAC is proposed to be recruited to the TNF-R1 signaling complex (TNF-RSC) following
polyubiquitination of TNF-RSC components by BIRC2 and/or BIRC3 and to conjugate linear polyubiquitin to IKBKG and
possibly other components contributing to the stability of the complex. Together with FAM105B/otulin, the LUBAC
complex regulates the canonical Wnt signaling during angiogenesis




(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_000008.10  NC_018919.2  NT_008046.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SHARPIN gene promoter:
         NF-1/L   NF-1   STAT1   Elk-1   STAT1beta   E47   STAT1alpha   Max   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSHARPIN promoter sequence
   Search SABiosciences Chromatin IP Primers for SHARPIN

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SHARPIN


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

Entrez Gene cytogenetic band: 8q24.3   Ensembl cytogenetic band:  8q24.3   HGNC cytogenetic band: 8q24.3

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

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M145153:  view genomic region     (about GC identifiers)

Start:
145,153,536 bp from pter      End:
145,163,027 bp from pter
Size:
9,492 bases      Orientation:
minus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for SHARPIN

(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: SHRPN_HUMAN, Q9H0F6 (See protein sequence)
Recommended Name: Sharpin  
Size: 387 amino acids; 39949 Da
Subunit: Monomer and homodimer. Interacts with SHANK1, EYA1 and EYA2 (By similarity). Component of the LUBAC
complex (linear ubiquitin chain assembly complex) which consists of SHARPIN, RBCK1 and RNF31. LUBAC has a MW of
approximative 600 kDa suggesting a heteromultimeric assembly of its subunits. Associates with the TNF-R1
signaling complex (TNF-RSC) in a stimulation-dependent manner
Subcellular location: Cytoplasm, cytosol
Sequence caution: Sequence=BAC11666.1; Type=Frameshift; Positions=334; Sequence=BAC53797.1; Type=Frameshift;
Positions=218; Sequence=BAC53798.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing;
1 PDB 3D structure from and Proteopedia for SHARPIN:
4EMO (3D)    
Secondary accessions: A6NEG3 C0L3L2 D3DWL3 Q8IXF5 Q8IXF6 Q8N2E7 Q8TB25 Q9BUE4
Alternative splicing: 2 isoforms:  Q9H0F6-1   Q9H0F6-2   

Explore the universe of human proteins at neXtProt for SHARPIN: NX_Q9H0F6

Explore proteomics data for SHARPIN at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9H0F6

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

    SHARPIN Protein Expression
    REFSEQ proteins: NP_112236.3  
    ENSEMBL proteins: 
     ENSP00000432355   ENSP00000381698   ENSP00000352551  

    Human Recombinant Protein Products for SHARPIN: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for SHARPIN
    OriGene Protein Over-expression Lysate for SHARPIN
    OriGene MassSpec for SHARPIN 
    OriGene Custom Protein Services for SHARPIN
    GenScript Custom Purified and Recombinant Proteins Services for SHARPIN
    Novus Biologicals SHARPIN Proteins
    Novus Biologicals SHARPIN Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SHARPIN 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol IDA--
    GO:0014069postsynaptic density IEA--
    GO:0030425dendrite IEA--
    GO:0071797LUBAC complex IDA--

    SHARPIN for ontologies           About GeneDecksing



    SHARPIN Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for SHARPIN 
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for SHARPIN
    GenScript Custom Superior Antibodies Services for SHARPIN
    Novus Biologicals SHARPIN Antibodies
    Abcam antibodies for SHARPIN
    Cloud-Clone Corp. Antibodies for SHARPIN 
    Search ThermoFisher Antibodies for SHARPIN
    LSBio Antibodies in human, mouse, rat for SHARPIN 

    Assay Products for SHARPIN: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for SHARPIN
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for SHARPIN
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SHARPIN 
    Cloud-Clone Corp. CLIAs for SHARPIN


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR026168 SHARPIN
     IPR001876 Znf_RanBP2

    Graphical View of Domain Structure for InterPro Entry Q9H0F6

    ProtoNet protein and cluster: Q9H0F6

    1 Blocks protein domain: IPB001876 Zn-finger

    UniProtKB/Swiss-Prot: SHRPN_HUMAN, Q9H0F6
    Domain: The Ubiquitin-like domain is required for the interaction with RNF31
    Domain: The RanBP2-type zinc fingers mediate the specific interaction with ubiquitin. Binds preferentially linear
    polyubiquitin chains and 'Lys-63'-linked polyubiquitin chains over 'Lys-48'-linked polyubiquitin chains. Also
    binds monoubiquitin
    Similarity: Contains 1 RanBP2-type zinc finger
    Similarity: Contains 1 ubiquitin-like domain


    SHARPIN 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: SHRPN_HUMAN, Q9H0F6
    Function: Component of the LUBAC complex which conjugates linear polyubiquitin chains in a head-to-tail manner to
    substrates and plays a key role in NF-kappa-B activation and regulation of inflammation. LUBAC conjugates linear
    polyubiquitin to IKBKG and RIPK1 and is involved in activation of the canonical NF-kappa-B and the JNK signaling
    pathways. Linear ubiquitination mediated by the LUBAC complex interferes with TNF-induced cell death and thereby
    prevents inflammation. LUBAC is proposed to be recruited to the TNF-R1 signaling complex (TNF-RSC) following
    polyubiquitination of TNF-RSC components by BIRC2 and/or BIRC3 and to conjugate linear polyubiquitin to IKBKG and
    possibly other components contributing to the stability of the complex. Together with FAM105B/otulin, the LUBAC
    complex regulates the canonical Wnt signaling during angiogenesis

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0008270zinc ion binding IEA--
    GO:0031593polyubiquitin binding IDA--
    GO:0032403protein complex binding IEA--
    GO:0042802identical protein binding IEA--
         
    SHARPIN for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for SHARPIN:
     Decreased Salmonella enterica   Increased gamma-H2AX phosphory 

         15 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Sharpin):
     cardiovascular system  cellular  craniofacial  digestive/alimentary  growth/size 
     hematopoietic system  homeostasis/metabolism  immune system  integument  liver/biliary system 
     normal  reproductive system  respiratory system  skeleton  vision/eye 

    SHARPIN for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SHARPIN 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SHARPIN

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SHARPIN 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SHARPIN 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SHARPIN
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate SHARPIN
    SwitchGear 3'UTR luciferase reporter plasmidSHARPIN 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for SHARPIN
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SHARPIN

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SHARPIN
    Sirion Biotech Customized adenovirus for overexpression of SHARPIN

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for SHARPIN (see all 7)
    OriGene ORF clones in mouse, rat for SHARPIN
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SHARPIN (NM_030974)
    Sino Biological Human cDNA Clone for SHARPIN
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SHARPIN
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SHARPIN
    Sirion Biotech Customized lentivirus for stable overexpression of SHARPIN 
                         Customized lentivirus expression plasmids for stable overexpression of SHARPIN 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for SHARPIN
    Search LifeMap BioReagents cell lines for SHARPIN
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SHARPIN


    (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

    SuperPaths for SHARPIN About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Protein Stability
    Protein Stability
    2Lymphocyte Signaling
    Lymphocyte Signaling
    3Apoptosis and Autophagy
    Apoptosis and Autophagy
    4NF-kappaB Signaling
    NF-kappaB Signaling

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4 Cell Signaling Technology (CST) Pathways for SHARPIN
        Apoptosis and Autophagy
    Lymphocyte Signaling
    NF-kappaB Signaling
    Protein Stability




    SHARPIN for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SHARPIN

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/38 Interacting proteins for SHARPIN (Q9H0F61, 2, 3 ENSP000003816984) via UniProtKB, MINT, STRING, and/or I2D (see all 38)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RNF31Q96EP02, 3, ENSP000003151124MINT-8410335 MINT-8410390 MINT-8410460 MINT-8410293 MINT-8410426 MINT-8410542 I2D: score=1 STRING: ENSP00000315112
    RBCK1Q9BYM82, 3, ENSP000003486324MINT-8410335 MINT-8410390 MINT-8410460 MINT-8410293 MINT-8410542 I2D: score=1 STRING: ENSP00000348632
    IKBKGQ9Y6K92, 3, ENSP000003586224MINT-8410390 MINT-8410557 MINT-8410293 MINT-8410426 MINT-8410542 I2D: score=2 STRING: ENSP00000358622
    TNFAIP3P215802MINT-8410335 MINT-8410390 MINT-8410460 MINT-8410293
    SHANK1Q9Y5663, ENSP000002934414I2D: score=4 STRING: ENSP00000293441
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007005mitochondrion organization IEA--
    GO:0007420brain development IEA--
    GO:0008544epidermis development ----
    GO:0010803regulation of tumor necrosis factor-mediated signaling pathway IDA--
    GO:0030262apoptotic nuclear changes IEA--

    SHARPIN for ontologies           About GeneDecksing



    (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 SHARPIN (SHRPN)

    Search CenterWatch for drugs/clinical trials and news about SHARPIN / SHRPN

    (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 SHARPIN gene: 
    NM_030974.3  

    Unigene Cluster for SHARPIN:

    SHANK-associated RH domain interactor
    Hs.529755  [show with all ESTs]
    Unigene Representative Sequence: BM543764
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000532536 ENST00000398712(uc003zba.3) ENST00000359551(uc003zbb.3)
    ENST00000530216 ENST00000534242 ENST00000525275 ENST00000533948 ENST00000534435
    ENST00000531375 ENST00000533184
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SHARPIN
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate SHARPIN
    SwitchGear 3'UTR luciferase reporter plasmidSHARPIN 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for SHARPIN
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SHARPIN
    Clone
    Products:
         
    OriGene clones in human, mouse for SHARPIN (see all 7)
    OriGene ORF clones in mouse, rat for SHARPIN
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SHARPIN (NM_030974)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SHARPIN
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SHARPIN
    Sirion Biotech Customized lentivirus for stable overexpression of SHARPIN 
                         Customized lentivirus expression plasmids for stable overexpression of SHARPIN 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for SHARPIN
    Search SABiosciences RT2 qPCR Primer Assays in human, mouse, rat SHARPIN
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SHARPIN
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SHARPIN

    Additional mRNA sequence: 

    AB052764.1 AB052765.1 AK075518.1 AL136816.1 BC002688.2 BC017230.2 BC025244.1 BC034028.1 
    FJ655995.1 NR_038270.1 

    19 DOTS entries:

    DT.214349  DT.97855654  DT.92433869  DT.456226  DT.86821228  DT.95370014  DT.95215125  DT.40194296 
    DT.95152940  DT.100834273  DT.92433870  DT.92433883  DT.95152944  DT.100044567  DT.102833049  DT.102833050 
    DT.120643698  DT.99991884  DT.97855652 

    24/228 AceView cDNA sequences (see all 228):

    CB242126 CB306748 AI863583 BI860843 BF508370 BQ674126 BQ673897 AA353870 
    BC017230 BG576996 AA383018 BM672541 BM846452 CB240764 BQ929173 AA761457 
    AI369440 BG258165 BM672617 BM924477 AL136816 CD722941 AA300228 AI373873 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for SHARPIN (see all 9)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12
    SP1:                                            -                                                                     
    SP2:                                            -                                                     -               
    SP3:                                            -     -     -                                                         
    SP4:                    -     -                 -                                                                     
    SP5:                          -                 -                                                                     


    ECgene alternative splicing isoforms for SHARPIN

    (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

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


    SHARPIN expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/26 selected tissues (see all 26) fully expand
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   
     
     Uterus (Reproductive System)    fully expand to see all 3 entries
             uterus, post-menopause ; glandular cells   
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex

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

    SOURCE GeneReport for Unigene cluster: Hs.529755

    UniProtKB/Swiss-Prot: SHRPN_HUMAN, Q9H0F6
    Tissue specificity: Highly expressed in skeletal muscle and placenta and at lower levels in brain, heart, colon
    without mucosa, thymus, spleen, kidney, liver, small intestine, lung and peripheral blood leukocytes.
    Up-regulated in various tumor tissues such as kidney, liver, ovary and pancreas tumors

        SABiosciences Custom PCR Arrays for SHARPIN
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for SHARPIN
    Search SABiosciences RT2 qPCR Primer Assays in human, mouse, rat SHARPIN
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SHARPIN
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SHARPIN
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SHARPIN

    (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 chordates.

    Orthologs for SHARPIN gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sharpin1 , 5 SHANK-associated RH domain interacting protein1, 5 76.14(n)1
    75(a)1
      15 (35.75 cM)5
    1060251  NM_025340.21  NP_079616.21 
     763470405 
    chicken
    (Gallus gallus)
    Aves SHARPIN6
    SHANK-associated RH domain interactor
    20(a)
    1 ↔ 1
    JH375733.1(21-6205)
    lizard
    (Anolis carolinensis)
    Reptilia SHARPIN6
    SHANK-associated RH domain interactor
    19(a)
    1 ↔ 1
    GL343789.1(110462-163801)
    zebrafish
    (Danio rerio)
    Actinopterygii SHARPIN (1 of 2)6
    shrprbck1r6
    sharpin and rbck1 related
    34(a)
    17(a)
    many → 1
    many → 1
    2(377851-385099)
    7(41451484-41474567)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SHARPIN gene
    RBCK12  
    1 SIMAP similar gene for SHARPIN using alignment to 3 protein entries:     SHRPN_HUMAN (see all proteins):
    RBCK1

    SHARPIN for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SHARPIN
    PGOHUM00000260423


    (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

    10/152 SNPs in SHARPIN are shown (see all 152)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1386332951,2
    --145153041(+) GCACCA/GGCCCA 2 -- ds5001 int10--------
    rs1144330701,2
    F--145153128(+) GGTGTC/TCTAGC 2 -- ds5001 int11Minor allele frequency- T:0.02WA 118
    rs132549541,2
    C,F,H--145153138(+) CTGCAG/AGAGCT 2 -- ds5001 int121Minor allele frequency- A:0.14NS EA NA WA CSA 980
    rs353517241,2
    C,F--145153195(+) AGAAAG/AGTGGT 2 -- ds5001 int17Minor allele frequency- A:0.07NS WA NA 426
    rs1120282171,2
    C--145153384(+) ATGCCG/ATGCTT 2 -- ds5001 int11Minor allele frequency- A:0.50NA 2
    rs737178081,2
    C,F--145153437(+) ACACCG/AGGGTC 2 -- ds5001 int11Minor allele frequency- A:0.50WA 2
    rs349489901,2
    C,F--145153458(+) GCCCCG/ACCTGC 2 -- ds5001 int16Minor allele frequency- A:0.02NS NA 308
    rs1930454671,2
    --145153488(+) TGTATC/TGCTGG 2 -- ds5001 int10--------
    rs1846271971,2
    --145153534(+) GGGATC/GCTTGC 2 -- ds5001 int10--------
    rs1131949421,2
    C--145153539(+) GCTTGC/G/TTGGCT 3 -- ut31 spd11CSA 1

    HapMap Linkage Disequilibrium report for SHARPIN (145153536 - 145163027 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/20 variations for SHARPIN (see all 20):    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv6448CNV Insertion18451855
    nsv891809CNV Loss21882294
    dgv7949n71CNV Loss21882294
    dgv7950n71CNV Loss21882294
    dgv906n27CNV Loss19166990
    nsv891812CNV Loss21882294
    dgv7955n71CNV Loss21882294
    nsv891807CNV Loss21882294
    dgv7954n71CNV Loss21882294
    esv29971CNV Loss17803354

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SHARPIN
    DNA2.0 Custom Variant and Variant Library Synthesis for SHARPIN

    (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
    OMIM gene information: 611885    OMIM disorders: --

    4 diseases for SHARPIN:    About MalaCards
    sporadic breast cancer    acne    dermatitis    breast cancer

    1 disease from the University of Copenhagen DISEASES database for SHARPIN:
    Dermatitis

    SHARPIN for disorders           About GeneDecksing

    Genetic Association Database (GAD): SHARPIN
    Human Genome Epidemiology (HuGE) Navigator: SHARPIN (2 documents)

    Export disorders for SHARPIN 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 SHARPIN gene, integrated from 9 sources (see all 38):
    (articles sorted by number of sources associating them with SHARPIN)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Novel human and mouse genes encoding a shank-interacting protein and its upregulation in gastric fundus of W/WV mouse. (PubMed id 12753155)1, 2, 3, 9 Daigo Y.... Fujino M.A. (2003)
    2. Sharpin, a novel postsynaptic density protein that directly interacts with the shank family of proteins. (PubMed id 11178875)1, 3, 9 Lim S....Kim E. (2001)
    3. Structural analysis of SHARPIN, a subunit of a large m ulti-protein E3 ubiquitin ligase, reveals a novel dimerization function for the pleckstrin homology superfold. (PubMed id 22549881)1, 2 Stieglitz B....Rittinger K. (2012)
    4. SHARPIN is a component of the NF-kappaB-activating linear ubiquitin chain assembly complex. (PubMed id 21455180)1, 2 Tokunaga F.... Iwai K. (2011)
    5. Newly identified tumor-associated role of human Sharp in. (PubMed id 20179993)1, 2 Jung J....Lee S. (2010)
    6. Evaluating new candidate SNPs as low penetrance risk factors in sporadic breast cancer: a two-stage Spanish case-control study. (PubMed id 18950845)1, 4 Vega A....Carracedo A. (2009)
    7. 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)
    8. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (2001)
    9. Shank-interacting protein-like 1 promotes tumorigenes is via PTEN inhibition in human tumor cells. (PubMed id 20458142)1, 9 He L....Tang D. (2010)
    10. Disease-causing mutations in the XIAP BIR2 domain impa ir NOD2-dependent immune signalling. (PubMed id 23818254)1 Damgaard R.B....Gyrd-Hansen M. (2013)

    (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: 81858 HGNC: 25321 AceView: Sharpin Ensembl:ENSG00000179526 euGenes: HUgn81858
    ECgene: SHARPIN H-InvDB: SHARPIN

    (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 SHARPIN 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 SHARPIN gene:
    Search GeneIP for patents involving SHARPIN

    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

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for SHARPIN  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for SHARPIN  
     OriGene MassSpec something-or-other for SHARPIN   OriGene clones in human, mouse for SHARPIN  
     OriGene qSTAR qPCR primer pairs in human, mouse for SHARPIN   OriGene Purified Protein for SHARPIN  
     OriGene ORF clones in mouse, rat for SHARPIN   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for SHARPIN   OriGene Custom Protein Services for SHARPIN  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SHARPIN
     QIAGEN SeqTarget long-range PCR primers for resequencing SHARPIN
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SHARPIN
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SHARPIN
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SHARPIN
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SHARPIN
     GenScript Custom Purified and Recombinant Proteins Services for SHARPIN GenScript cDNA clones with any tag delivered in your preferred vector for SHARPIN
     GenScript Custom Assay Services for SHARPIN GenScript Custom Superior Antibodies Services for SHARPIN
     GenScript Custom overexpressing Cell Line Services for SHARPIN CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Antibodies & Assays for SHARPIN 

     Regulatory tfbs in SHARPIN promoter
     Search Chromatin IP Primers for SHARPIN
     RT2 qPCR Primer Assay in human, mouse / rat SHARPIN
     GNC Network for SHARPIN
     SABiosciences Custom PCR Arrays for SHARPIN
     Search Tocris compounds for SHARPIN (SHRPN)
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     cDNA Clones for SHARPIN
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     SHARPIN antibodies
     SHARPIN proteins
     SHARPIN lysates
     Antibodies for SHARPIN
     See all of Abcam's Antibodies, Kits and Proteins for SHARPIN
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for SHARPIN
     Antibodies for SHARPIN
     ELISAs for SHARPIN
     CLIAs for SHARPIN
     Search LifeMap BioReagents cell lines for SHARPIN
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SHARPIN
     SwitchGear 3'UTR luciferase reporter plasmids for SHARPIN
     SwitchGear Promoter luciferase reporter plasmids for SHARPIN
     Search ThermoFisher Antibodies for SHARPIN
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SHARPIN
     inGenious Targeting Laboratory - Custom generated mouse model solutions for SHARPIN
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SHARPIN
    Customized:
     lentivirus for stable overexpression of SHARPIN
     lentivirus expression plasmids for stable overexpression of SHARPIN
     adenovirus for overexpression of SHARPIN
     LSBio Antibodies in human, mouse, rat for SHARPIN
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    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 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      SHARPIN gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 106 solr: 1.4