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SHARPIN Gene

protein-coding   GIFtS: 58
GCID: GC08M145153

SHANK-Associated RH Domain Interactor

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

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:         

Export aliases for SHARPIN gene to outside databases

Previous GC identifers: GC08M145226 GC08M140429


(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 SHARPIN Gene:
SHARPIN (SHANK-associated RH domain interactor) is a protein-coding gene. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000008.10  NC_018919.2  NT_008046.17  
Regulatory elements:
   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 Chromatin IP Primers for SHARPIN

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: SHRPN_HUMAN, Q9H0F6 (See protein sequence)
Recommended Name: Sharpin  
Size: 387 amino acids; 39949 Da
Subunit: Monomer and homodimer. 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. Interacts with EYA1, EYA2, SHANK1 and SHANK3 (via ANK repeats)
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: 

  • Ubiquitination2 at Lys189, Lys318
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins: NP_112236.3  
    ENSEMBL proteins: 
     ENSP00000432355   ENSP00000381698   ENSP00000352551  

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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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    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


    Find genes that share domains with SHARPIN           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    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--
         
    Find genes that share ontologies with SHARPIN           About GenesLikeMe


    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/body 
     hematopoietic system  homeostasis/metabolism  immune system  integument  liver/biliary system 
     normal  reproductive system  respiratory system  skeleton  vision/eye 

    Find genes that share phenotypes with SHARPIN           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SHARPIN
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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
    SHRPN_HUMAN, Q9H0F6: Cytoplasm, cytosol. Cell junction, synapse (By similarity). Note=Enriched at synaptic sites
    in mature neurons where it colocalizes with SHANK1 (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    cytoskeleton2
    extracellular2
    nucleus2
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol IDA--
    GO:0014069postsynaptic density IEA--
    GO:0030054cell junction IEA--
    GO:0030425dendrite IEA--
    GO:0071797LUBAC complex IDA--

    Find genes that share ontologies with SHARPIN           About GenesLikeMe


    (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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    SuperPaths for SHARPIN About    
    See pathways by source

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


    Find genes that share SuperPaths with SHARPIN           About GenesLikeMe

    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



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SHARPIN
    Interactions:

        GeneGlobe Interaction Network for SHARPIN

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

    Selected Interacting proteins for SHARPIN (Q9H0F61, 2, 3 ENSP000003816984) via UniProtKB, MINT, STRING, and/or I2D (see all 47)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RNF31Q96EP01, 2, 3, ENSP000003151124EBI-3942966,EBI-948111 MINT-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
    IKBKGQ9Y6K91, 2, 3, ENSP000003586224EBI-3942966,EBI-81279 MINT-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): Selected biological process terms (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--

    Find genes that share ontologies with SHARPIN           About GenesLikeMe



    (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 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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
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    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 

    Selected AceView cDNA sequences (see all 228):

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

    GeneLoc Exon Structure

    Selected 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™, 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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    SHARPIN expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
    SHARPIN Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SHARPIN Protein Expression

    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

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    In Situ
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    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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for SHARPIN gene from Selected 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 76.3(n)1
    74.79(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
    22(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 LOC7936731 sharpin-like 51.21(n)
    44.48(a)
      793673  XM_001333445.5  XP_001333481.5 


    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)
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    Paralogs for SHARPIN gene
    RBCK12  
    1 SIMAP similar gene for SHARPIN using alignment to 3 protein entries:     SHRPN_HUMAN (see all proteins):
    RBCK1

    Find genes that share paralogs with SHARPIN           About GenesLikeMe


    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), 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 SHARPIN (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) Selected 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

    Site Specific Mutation Identification with 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 611885    OMIM disorders: --

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

    Find genes that share disorders with SHARPIN           About GenesLikeMe

    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)
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    PubMed articles for SHARPIN gene, integrated from 10 sources (see all 39):
    (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. (J. Gastroenterol. Hepatol. 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. (Mol. Cell. Neurosci. 2001)
    3. Structural analysis of SHARPIN, a subunit of a large multi-protein E3 ubiquitin ligase, reveals a novel dimerization function for the pleckstrin homology superfold. (PubMed id 22549881)1, 2 Stieglitz B.... Rittinger K. (J. Biol. Chem. 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. (Nature 2011)
    5. Newly identified tumor-associated role of human Sharpin. (PubMed id 20179993)1, 2 Jung J....Lee S.J. (Mol. Cell. Biochem. 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. (Gynecol. Oncol. 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. (Genome Res. 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. (Genome Res. 2001)
    9. Shank-interacting protein-like 1 promotes tumorigenesis via PTEN inhibition in human tumor cells. (PubMed id 20458142)1, 9 He L....Tang D. (J. Clin. Invest. 2010)
    10. Disease-causing mutations in the XIAP BIR2 domain impair NOD2-dependent immune signalling. (PubMed id 23818254)1 Damgaard R.B....Gyrd-Hansen M. (EMBO Mol Med 2013)

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

    (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 SHARPIN 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 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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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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