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SHARPIN (SHANK associated RH domain interactor)

Identity

Alias_symbol (synonym)DKFZP434N1923
SIPL1
Other alias
HGNC (Hugo) SHARPIN
LocusID (NCBI) 81858
Atlas_Id 51680
Location 8q24.3  [Link to chromosome band 8q24]
Location_base_pair Starts at 144098633 and ends at 144104237 bp from pter ( according to hg38-Dec_2013)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)SHARPIN   25321
Cards
Entrez_Gene (NCBI)SHARPIN  81858  SHANK associated RH domain interactor
AliasesSIPL1
GeneCards (Weizmann)SHARPIN
Ensembl hg19 (Hinxton)ENSG00000179526 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000179526 [Gene_View]  chr8:144098633-144104237 [Contig_View]  SHARPIN [Vega]
ICGC DataPortalENSG00000179526
TCGA cBioPortalSHARPIN
AceView (NCBI)SHARPIN
Genatlas (Paris)SHARPIN
WikiGenes81858
SOURCE (Princeton)SHARPIN
Genetics Home Reference (NIH)SHARPIN
Genomic and cartography
GoldenPath hg38 (UCSC)SHARPIN  -     chr8:144098633-144104237 -  8q24.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SHARPIN  -     8q24.3   [Description]    (hg19-Feb_2009)
EnsemblSHARPIN - 8q24.3 [CytoView hg19]  SHARPIN - 8q24.3 [CytoView hg38]
Mapping of homologs : NCBISHARPIN [Mapview hg19]  SHARPIN [Mapview hg38]
OMIM611885   
Gene and transcription
Genbank (Entrez)AB052764 AB052765 AK075518 AL136816 BC002688
RefSeq transcript (Entrez)NM_030974
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SHARPIN
Cluster EST : UnigeneHs.529755 [ NCBI ]
CGAP (NCI)Hs.529755
Alternative Splicing GalleryENSG00000179526
Gene ExpressionSHARPIN [ NCBI-GEO ]   SHARPIN [ EBI - ARRAY_EXPRESS ]   SHARPIN [ SEEK ]   SHARPIN [ MEM ]
Gene Expression Viewer (FireBrowse)SHARPIN [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)81858
GTEX Portal (Tissue expression)SHARPIN
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H0F6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H0F6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H0F6
Splice isoforms : SwissVarQ9H0F6
PhosPhoSitePlusQ9H0F6
Domaine pattern : Prosite (Expaxy)ZF_RANBP2_1 (PS01358)    ZF_RANBP2_2 (PS50199)   
Domains : Interpro (EBI)Sharpin_PH    Ubiquitin-rel_dom    Znf_RanBP2   
Domain families : Pfam (Sanger)Sharpin_PH (PF16764)   
Domain families : Pfam (NCBI)pfam16764   
Domain families : Smart (EMBL)ZnF_RBZ (SM00547)  
Conserved Domain (NCBI)SHARPIN
DMDM Disease mutations81858
Blocks (Seattle)SHARPIN
PDB (SRS)4EMO   
PDB (PDBSum)4EMO   
PDB (IMB)4EMO   
PDB (RSDB)4EMO   
Structural Biology KnowledgeBase4EMO   
SCOP (Structural Classification of Proteins)4EMO   
CATH (Classification of proteins structures)4EMO   
SuperfamilyQ9H0F6
Human Protein AtlasENSG00000179526
Peptide AtlasQ9H0F6
HPRD15463
IPIIPI00873534   IPI00382790   IPI00980235   
Protein Interaction databases
DIP (DOE-UCLA)Q9H0F6
IntAct (EBI)Q9H0F6
FunCoupENSG00000179526
BioGRIDSHARPIN
STRING (EMBL)SHARPIN
ZODIACSHARPIN
Ontologies - Pathways
QuickGOQ9H0F6
Ontology : AmiGOubiquitin-protein transferase activity  protein binding  cytosol  cytosol  mitochondrion organization  I-kappaB kinase/NF-kappaB signaling  brain development  zinc ion binding  regulation of tumor necrosis factor-mediated signaling pathway  regulation of tumor necrosis factor-mediated signaling pathway  postsynaptic density  cell junction  apoptotic nuclear changes  dendrite  keratinization  polyubiquitin binding  protein complex binding  identical protein binding  positive regulation of I-kappaB kinase/NF-kappaB signaling  proteasome-mediated ubiquitin-dependent protein catabolic process  negative regulation of inflammatory response  protein homooligomerization  LUBAC complex  protein linear polyubiquitination  regulation of CD40 signaling pathway  
Ontology : EGO-EBIubiquitin-protein transferase activity  protein binding  cytosol  cytosol  mitochondrion organization  I-kappaB kinase/NF-kappaB signaling  brain development  zinc ion binding  regulation of tumor necrosis factor-mediated signaling pathway  regulation of tumor necrosis factor-mediated signaling pathway  postsynaptic density  cell junction  apoptotic nuclear changes  dendrite  keratinization  polyubiquitin binding  protein complex binding  identical protein binding  positive regulation of I-kappaB kinase/NF-kappaB signaling  proteasome-mediated ubiquitin-dependent protein catabolic process  negative regulation of inflammatory response  protein homooligomerization  LUBAC complex  protein linear polyubiquitination  regulation of CD40 signaling pathway  
NDEx NetworkSHARPIN
Atlas of Cancer Signalling NetworkSHARPIN
Wikipedia pathwaysSHARPIN
Orthology - Evolution
OrthoDB81858
GeneTree (enSembl)ENSG00000179526
Phylogenetic Trees/Animal Genes : TreeFamSHARPIN
HOVERGENQ9H0F6
HOGENOMQ9H0F6
Homologs : HomoloGeneSHARPIN
Homology/Alignments : Family Browser (UCSC)SHARPIN
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSHARPIN [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SHARPIN
dbVarSHARPIN
ClinVarSHARPIN
1000_GenomesSHARPIN 
Exome Variant ServerSHARPIN
ExAC (Exome Aggregation Consortium)SHARPIN (select the gene name)
Genetic variants : HAPMAP81858
Genomic Variants (DGV)SHARPIN [DGVbeta]
DECIPHERSHARPIN [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSHARPIN 
Mutations
ICGC Data PortalSHARPIN 
TCGA Data PortalSHARPIN 
Broad Tumor PortalSHARPIN
OASIS PortalSHARPIN [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSHARPIN  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSHARPIN
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SHARPIN
DgiDB (Drug Gene Interaction Database)SHARPIN
DoCM (Curated mutations)SHARPIN (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SHARPIN (select a term)
intoGenSHARPIN
Cancer3DSHARPIN(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611885   
Orphanet
MedgenSHARPIN
Genetic Testing Registry SHARPIN
NextProtQ9H0F6 [Medical]
TSGene81858
GENETestsSHARPIN
Target ValidationSHARPIN
Huge Navigator SHARPIN [HugePedia]
snp3D : Map Gene to Disease81858
BioCentury BCIQSHARPIN
ClinGenSHARPIN
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD81858
Chemical/Pharm GKB GenePA142670925
Clinical trialSHARPIN
Miscellaneous
canSAR (ICR)SHARPIN (select the gene name)
Probes
Litterature
PubMed50 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSHARPIN
EVEXSHARPIN
GoPubMedSHARPIN
iHOPSHARPIN
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 25 19:30:58 CEST 2017

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