SHARPIN (SHANK associated RH domain interactor)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 81858
Gene name SHANK associated RH domain interactor
Gene symbol SHARPIN
Synonyms (NCBI Gene)
AIFIDSIPL1
Chromosome 8
Chromosome location 8q24.3
miRNA miRNA information provided by mirtarbase database.
18
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (18)
miRTarBase ID miRNA Experiments Reference
MIRT2622312 hsa-miR-1254 CLIP-seq
MIRT2622313 hsa-miR-1270 CLIP-seq
MIRT2622314 hsa-miR-199a-3p CLIP-seq
MIRT2622315 hsa-miR-199b-3p CLIP-seq
MIRT2622316 hsa-miR-2861 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
33
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (33)
GO ID Ontology Definition Evidence Reference
GO:0004842 Function Ubiquitin-protein transferase activity IBA
GO:0005515 Function Protein binding IPI 21455173, 21455180, 21455181, 21709223, 21947080, 22158122, 23032186, 23104095, 24141947, 27070702, 28514442, 30561431, 32296183, 33961781, 36179048
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IDA 20179993
GO:0005829 Component Cytosol IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
611885 25321 ENSG00000179526
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Tissue specificity 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 
MAPPAGGAAAAASDLGSAAVLLAVHAAVRPLGAGPDAEAQLRRLQLSADPERPGRFRLEL
LGAGPGAVNLEWPLESVSYTIRGPTQHELQPPPGGPGTLSLHFLNPQEAQRWAVLVRGAT
VEGQNGSKSNSPPALGPEACPVSLPSPPEASTLKGPPPEADLPRSPGNLTEREELAGSLA
RAIAGGDEKGAAQVAAVLAQHRVALSVQLQEACFPPGPIRLQVTLEDAASAASAASSAHV
ALQVHPHCTVAALQEQVFSELGFPPAVQRWVIGRCLCVPERSLASYGVRQDGDPAFLYLL
SAPREAPATGPSPQHPQKMDGELGRLFPPSLGLPPGPQPAASSLPSPLQPSWSCPSCTFI
NAPDRPGCEMCSTQRPCTWDPLAAAST
Sequence length 387
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Necroptosis
NOD-like receptor signaling pathway
Shigellosis 		  Regulation of TNFR1 signaling
TNFR1-induced NFkappaB signaling pathway
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Autoinflammation with episodic fever and immune dysregulation Pathogenic rs1432748871, rs1564313667 RCV004525821
RCV004525822
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (7)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEMENTIA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (50)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 28230260
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 29684019, 31216982, 32558014, 34099642, 34737388, 34785643 Associate
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Alzheimer Disease, Late Onset Alzheimer disease BEFREE 31216982
★★★★★
★☆☆☆☆
Found in Text Mining only
Bloch Sulzberger syndrome Incontinentia pigmenti syndrome BEFREE 28249776
★★★★★
★☆☆☆☆
Found in Text Mining only
Branchio-Oto-Renal Syndrome Branchiootorenal Syndrome BEFREE 20956555
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 25992689, 28063307, 29100376, 29248549, 29763465, 31518875
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 25992689 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 28063307, 29763465 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 20458142, 25992689 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 24925528 Inhibit
★★★★★
★☆☆☆☆
Found in Text Mining only