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SIGMAR1 (sigma non-opioid intracellular receptor 1)

Identity

Alias_namesOPRS1
opioid receptor
Alias_symbol (synonym)SR-BP1
Other aliasALS16
DSMA2
SIG-1R
SR-BP
SRBP
hSigmaR1
sigma1R
HGNC (Hugo) SIGMAR1
LocusID (NCBI) 10280
Atlas_Id 45709
Location 9p13.3  [Link to chromosome band 9p13]
Location_base_pair Starts at 34634722 and ends at 34637826 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
DDB1 (11q12.2) / SIGMAR1 (9p13.3)GPR157 (1p36.23) / SIGMAR1 (9p13.3)SIGMAR1 (9p13.3) / PNPLA6 (19p13.2)
SIGMAR1 (9p13.3) / VGLL3 (3p12.1)

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)SIGMAR1   8157
Cards
Entrez_Gene (NCBI)SIGMAR1  10280  sigma non-opioid intracellular receptor 1
AliasesALS16; DSMA2; OPRS1; SIG-1R; 
SR-BP; SR-BP1; SRBP; hSigmaR1; sigma1R
GeneCards (Weizmann)SIGMAR1
Ensembl hg19 (Hinxton)ENSG00000147955 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000147955 [Gene_View]  chr9:34634722-34637826 [Contig_View]  SIGMAR1 [Vega]
ICGC DataPortalENSG00000147955
TCGA cBioPortalSIGMAR1
AceView (NCBI)SIGMAR1
Genatlas (Paris)SIGMAR1
WikiGenes10280
SOURCE (Princeton)SIGMAR1
Genetics Home Reference (NIH)SIGMAR1
Genomic and cartography
GoldenPath hg38 (UCSC)SIGMAR1  -     chr9:34634722-34637826 -  9p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SIGMAR1  -     9p13.3   [Description]    (hg19-Feb_2009)
EnsemblSIGMAR1 - 9p13.3 [CytoView hg19]  SIGMAR1 - 9p13.3 [CytoView hg38]
Mapping of homologs : NCBISIGMAR1 [Mapview hg19]  SIGMAR1 [Mapview hg38]
OMIM601978   605726   614373   
Gene and transcription
Genbank (Entrez)AF226604 AK098451 AK130502 AK222899 AK291092
RefSeq transcript (Entrez)NM_001282205 NM_001282206 NM_001282207 NM_001282208 NM_001282209 NM_005866 NM_147157 NM_147158 NM_147159 NM_147160
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SIGMAR1
Cluster EST : UnigeneHs.522087 [ NCBI ]
CGAP (NCI)Hs.522087
Alternative Splicing GalleryENSG00000147955
Gene ExpressionSIGMAR1 [ NCBI-GEO ]   SIGMAR1 [ EBI - ARRAY_EXPRESS ]   SIGMAR1 [ SEEK ]   SIGMAR1 [ MEM ]
Gene Expression Viewer (FireBrowse)SIGMAR1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10280
GTEX Portal (Tissue expression)SIGMAR1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ99720   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ99720  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ99720
Splice isoforms : SwissVarQ99720
PhosPhoSitePlusQ99720
Domains : Interpro (EBI)ERG2_sigma1_rcpt-like   
Domain families : Pfam (Sanger)ERG2_Sigma1R (PF04622)   
Domain families : Pfam (NCBI)pfam04622   
Conserved Domain (NCBI)SIGMAR1
DMDM Disease mutations10280
Blocks (Seattle)SIGMAR1
PDB (SRS)5HK1    5HK2   
PDB (PDBSum)5HK1    5HK2   
PDB (IMB)5HK1    5HK2   
PDB (RSDB)5HK1    5HK2   
Structural Biology KnowledgeBase5HK1    5HK2   
SCOP (Structural Classification of Proteins)5HK1    5HK2   
CATH (Classification of proteins structures)5HK1    5HK2   
SuperfamilyQ99720
Human Protein AtlasENSG00000147955
Peptide AtlasQ99720
HPRD03580
IPIIPI00218268   IPI00816436   IPI00004267   IPI00376226   IPI00167206   
Protein Interaction databases
DIP (DOE-UCLA)Q99720
IntAct (EBI)Q99720
FunCoupENSG00000147955
BioGRIDSIGMAR1
STRING (EMBL)SIGMAR1
ZODIACSIGMAR1
Ontologies - Pathways
QuickGOQ99720
Ontology : AmiGOopioid receptor activity  nuclear envelope  nuclear inner membrane  nuclear outer membrane  endoplasmic reticulum  endoplasmic reticulum membrane  lipid particle  integral component of plasma membrane  lipid transport  nervous system development  drug binding  postsynaptic density  integral component of membrane  cell junction  growth cone  cytoplasmic vesicle  opioid receptor signaling pathway  regulation of neuron apoptotic process  postsynaptic membrane  protein homotrimerization  
Ontology : EGO-EBIopioid receptor activity  nuclear envelope  nuclear inner membrane  nuclear outer membrane  endoplasmic reticulum  endoplasmic reticulum membrane  lipid particle  integral component of plasma membrane  lipid transport  nervous system development  drug binding  postsynaptic density  integral component of membrane  cell junction  growth cone  cytoplasmic vesicle  opioid receptor signaling pathway  regulation of neuron apoptotic process  postsynaptic membrane  protein homotrimerization  
NDEx NetworkSIGMAR1
Atlas of Cancer Signalling NetworkSIGMAR1
Wikipedia pathwaysSIGMAR1
Orthology - Evolution
OrthoDB10280
GeneTree (enSembl)ENSG00000147955
Phylogenetic Trees/Animal Genes : TreeFamSIGMAR1
HOVERGENQ99720
HOGENOMQ99720
Homologs : HomoloGeneSIGMAR1
Homology/Alignments : Family Browser (UCSC)SIGMAR1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSIGMAR1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SIGMAR1
dbVarSIGMAR1
ClinVarSIGMAR1
1000_GenomesSIGMAR1 
Exome Variant ServerSIGMAR1
ExAC (Exome Aggregation Consortium)SIGMAR1 (select the gene name)
Genetic variants : HAPMAP10280
Genomic Variants (DGV)SIGMAR1 [DGVbeta]
DECIPHERSIGMAR1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSIGMAR1 
Mutations
ICGC Data PortalSIGMAR1 
TCGA Data PortalSIGMAR1 
Broad Tumor PortalSIGMAR1
OASIS PortalSIGMAR1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSIGMAR1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSIGMAR1
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 SIGMAR1
DgiDB (Drug Gene Interaction Database)SIGMAR1
DoCM (Curated mutations)SIGMAR1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SIGMAR1 (select a term)
intoGenSIGMAR1
Cancer3DSIGMAR1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601978    605726    614373   
Orphanet16918    21137   
MedgenSIGMAR1
Genetic Testing Registry SIGMAR1
NextProtQ99720 [Medical]
TSGene10280
GENETestsSIGMAR1
Target ValidationSIGMAR1
Huge Navigator SIGMAR1 [HugePedia]
snp3D : Map Gene to Disease10280
BioCentury BCIQSIGMAR1
ClinGenSIGMAR1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10280
Chemical/Pharm GKB GenePA164725706
Clinical trialSIGMAR1
Miscellaneous
canSAR (ICR)SIGMAR1 (select the gene name)
Probes
Litterature
PubMed91 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSIGMAR1
EVEXSIGMAR1
GoPubMedSIGMAR1
iHOPSIGMAR1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:55:31 CEST 2017

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