Homo sapiens Gene: SHARPIN
Summary
InnateDB Gene IDBG-40065.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SHARPIN
Gene Name SHANK-associated RH domain interactor
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000179526
Encoded Proteins
SHANK-associated RH domain interactor
SHANK-associated RH domain interactor
SHANK-associated RH domain interactor
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
InnateDB Annotation
Summary
SHARPIN is an essential adaptor downstream of IKBKG in the TLR signalling pathway. A mutation in the SHARPIN gene impairs IL12 production in TLR-stimulated macrophages.
SHARPIN deficient dendritic cells show reduced inflammatory cytokine production, defective NF-kB signalling and skewing towards a Th2-response. (Demonstrated in mice)
InnateDB Annotation from Orthologs
Summary
[Mus musculus] Sharpin is an essential adaptor downstream of Ikbkg in the TLR signalling pathway. A mutation in the Sharpin gene impairs Il12 production in TLR-stimulated macrophages.
[Mus musculus] Sharpin deficient dendritic cells show reduced inflammatory cytokine production, defective NF-kB signalling and skewing towards a Th2-response.
Entrez Gene
Summary Currently no Entrez Summary Available. You might want to check the Summary Sections of the Orthologs.
Gene Information
Type Protein coding
Genomic Location Chromosome 8:144098633-144108124
Strand Reverse strand
Band q24.3
Transcripts
ENST00000359551 ENSP00000352551
ENST00000398712 ENSP00000381698
ENST00000532536 ENSP00000432355
ENST00000530216
ENST00000534242
ENST00000525275
ENST00000533948
ENST00000534435
ENST00000531375
ENST00000533184
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 44 experimentally validated interaction(s) in this database.
They are also associated with 23 interaction(s) predicted by orthology.
Experimentally validated
Total 44 [view]
Protein-Protein 44 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 23 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0031593 polyubiquitin binding
GO:0032403 protein complex binding
GO:0042802 identical protein binding
Biological Process
GO:0007005 mitochondrion organization
GO:0007420 brain development
GO:0008544 epidermis development
GO:0010803 regulation of tumor necrosis factor-mediated signaling pathway
GO:0030262 apoptotic nuclear changes
GO:0031424 keratinization
GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling
GO:0045087 innate immune response (InnateDB)
GO:0050728 negative regulation of inflammatory response
GO:0051260 protein homooligomerization
GO:0097039 protein linear polyubiquitination
GO:2000348 regulation of CD40 signaling pathway
Cellular Component
GO:0005829 cytosol
GO:0014069 postsynaptic density
GO:0030054 cell junction
GO:0030425 dendrite
GO:0071797 LUBAC complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene
RefSeq NM_030974
HUGO
OMIM
CCDS CCDS43777
HPRD 15463
IMGT
EMBL
GenPept
RNA Seq Atlas