• Gene id: 81858

Gene Summary

• Gene Symbol: SHARPIN   Gene   UCSC   Ensembl
• Aliases: SIPL1
• Gene name: SHANK associated RH domain interactor
• Alternate names: sharpin, hSIPL1, shank-associated RH domain-interacting protein, shank-interacting protein-like 1,
• Gene location: 8q24.3 (144104247: 144098636)     Exons: 19     NC_000008.11
• OMIM: 611885

Protein Summary

• Protein general information: Q9H0F6  
  • Name: Sharpin (Shank associated RH domain interacting protein) (Shank interacting protein like 1) (hSIPL1)
  • Length: 387  
  • Mass: 39949
  • 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 suc
• Sequence:

  MAPPAGGAAAAASDLGSAAVLLAVHAAVRPLGAGPDAEAQLRRLQLSADPERPGRFRLELLGAGPGAVNLEWPLE
  SVSYTIRGPTQHELQPPPGGPGTLSLHFLNPQEAQRWAVLVRGATVEGQNGSKSNSPPALGPEACPVSLPSPPEA
  STLKGPPPEADLPRSPGNLTEREELAGSLARAIAGGDEKGAAQVAAVLAQHRVALSVQLQEACFPPGPIRLQVTL
  EDAASAASAASSAHVALQVHPHCTVAALQEQVFSELGFPPAVQRWVIGRCLCVPERSLASYGVRQDGDPAFLYLL
  SAPREAPATGPSPQHPQKMDGELGRLFPPSLGLPPGPQPAASSLPSPLQPSWSCPSCTFINAPDRPGCEMCSTQR
  PCTWDPLAAAST

• Structural information:
  • Protein Domains: (219..28-)
    (/note="Ubiquitin-like"-)
  • Interpro: IPR011993  IPR026261  IPR031912  IPR029071  IPR001876   IPR036443  
  • Prosite: PS01358 PS50199
  • PDB: 4EMO 5X0W
  • PDBsum: 4EMO 5X0W
  • DIP: 57842
  • STRING: ENSP00000381698
• Other Databases: GeneCards:  SHARPIN  Malacards:  SHARPIN

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0071797	LUBAC complex	IBA	cellular component
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	IBA	biological process
GO:0043130	ubiquitin binding	IBA	molecular function
GO:0097039	protein linear polyubiquitination	IBA	biological process
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	IBA	biological process
GO:0004842	ubiquitin-protein transferase activity	IBA	molecular function
GO:0000151	ubiquitin ligase complex	IBA	cellular component
GO:2000348	regulation of CD40 signaling pathway	IDA	biological process
GO:0097039	protein linear polyubiquitination	IDA	biological process
GO:0097039	protein linear polyubiquitination	IDA	biological process
GO:0097039	protein linear polyubiquitination	IDA	biological process
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	IDA	biological process
GO:0031593	polyubiquitin modification-dependent protein binding	IDA	molecular function
GO:0031593	polyubiquitin modification-dependent protein binding	IDA	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0071797	LUBAC complex	IDA	cellular component
GO:0071797	LUBAC complex	IDA	cellular component
GO:0071797	LUBAC complex	IDA	cellular component
GO:0071797	LUBAC complex	IDA	cellular component
GO:0071797	LUBAC complex	IDA	cellular component
GO:0010803	regulation of tumor necrosis factor-mediated signaling pathway	IDA	biological process
GO:0050728	negative regulation of inflammatory response	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0045202	synapse	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007249	I-kappaB kinase/NF-kappaB signaling	TAS	biological process
GO:0010803	regulation of tumor necrosis factor-mediated signaling pathway	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0010803	regulation of tumor necrosis factor-mediated signaling pathway	IEA	biological process
GO:0031424	keratinization	IEA	biological process
GO:0050728	negative regulation of inflammatory response	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0014069	postsynaptic density	IEA	cellular component
GO:0042802	identical protein binding	IEA	molecular function
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0007005	mitochondrion organization	IEA	biological process
GO:0008544	epidermis development	IEA	biological process
GO:0030262	apoptotic nuclear changes	IEA	biological process
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	IEA	biological process
GO:0030425	dendrite	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0045202	synapse	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05131	Shigellosis
hsa04621	NOD-like receptor signaling pathway
hsa04217	Necroptosis

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)