Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
81858 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
SHANK associated RH domain interactor |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
SHARPIN |
SynonymsGene synonyms aliases
|
AIFID, SIPL1 |
ChromosomeChromosome number
|
8 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
8q24.3 |
miRNAmiRNA information provided by mirtarbase database.
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0000151 |
Component |
Ubiquitin ligase complex |
IBA |
21873635 |
GO:0004842 |
Function |
Ubiquitin-protein transferase activity |
IBA |
21873635 |
GO:0005515 |
Function |
Protein binding |
IPI |
21455173, 21455180, 21455181, 21709223, 21947080, 22158122, 23032186, 23104095, 24141947, 27070702, 28514442, 30561431 |
GO:0005829 |
Component |
Cytosol |
IDA |
20179993 |
GO:0005829 |
Component |
Cytosol |
TAS |
|
GO:0007005 |
Process |
Mitochondrion organization |
IEA |
|
GO:0007249 |
Process |
I-kappaB kinase/NF-kappaB signaling |
TAS |
|
GO:0007420 |
Process |
Brain development |
IEA |
|
GO:0010803 |
Process |
Regulation of tumor necrosis factor-mediated signaling pathway |
IDA |
21455173 |
GO:0010803 |
Process |
Regulation of tumor necrosis factor-mediated signaling pathway |
TAS |
|
GO:0014069 |
Component |
Postsynaptic density |
IEA |
|
GO:0030262 |
Process |
Apoptotic nuclear changes |
IEA |
|
GO:0030425 |
Component |
Dendrite |
IEA |
|
GO:0031424 |
Process |
Keratinization |
IEA |
|
GO:0031593 |
Function |
Polyubiquitin modification-dependent protein binding |
IDA |
21455173, 21455181 |
GO:0042802 |
Function |
Identical protein binding |
IEA |
|
GO:0043123 |
Process |
Positive regulation of I-kappaB kinase/NF-kappaB signaling |
IBA |
21873635 |
GO:0043123 |
Process |
Positive regulation of I-kappaB kinase/NF-kappaB signaling |
IDA |
21455173 |
GO:0043130 |
Function |
Ubiquitin binding |
IBA |
21873635 |
GO:0043161 |
Process |
Proteasome-mediated ubiquitin-dependent protein catabolic process |
IBA |
21873635 |
GO:0044877 |
Function |
Protein-containing complex binding |
IEA |
|
GO:0046872 |
Function |
Metal ion binding |
IEA |
|
GO:0050728 |
Process |
Negative regulation of inflammatory response |
ISS |
|
GO:0071797 |
Component |
LUBAC complex |
IBA |
21873635 |
GO:0071797 |
Component |
LUBAC complex |
IDA |
21455173, 21455180, 21455181, 24726323, 27523608 |
GO:0097039 |
Process |
Protein linear polyubiquitination |
IBA |
21873635 |
GO:0097039 |
Process |
Protein linear polyubiquitination |
IDA |
21455173, 21455180, 21455181 |
GO:2000348 |
Process |
Regulation of CD40 signaling pathway |
IDA |
21455173 |
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
Protein
|
UniProt ID |
Q9H0F6 |
Protein name |
Sharpin (Shank-associated RH domain-interacting protein) (Shank-interacting protein-like 1) (hSIPL1) |
Protein 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 (PubMed:21455173, PubMed:21455180, PubMed:21455181). |
PDB |
4EMO
,
5X0W
,
8K6P
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF16764 |
Sharpin_PH |
15 → 127 |
Sharpin PH domain |
Domain |
|
Sequence |
|
Sequence length |
387 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
|
|
Associated diseases
|
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Eosinophilia |
Eosinophilia, Eosinophilia, Tropical |
|
19650867 |
Respiratory tract diseases |
Respiratory Tract Diseases |
|
30595370 |
|