SIGMAR1 (sigma non-opioid intracellular receptor 1)

2007-02-01  

Identity

HGNC
LOCATION
9p13.3
LOCUSID
ALIAS
ALS16,DSMA2,OPRS1,SIG-1R,SR-BP,SR-BP1,SRBP,hSigmaR1,sigma1R
FUSION GENES

Other Information

Locus ID:

NCBI: 10280
MIM: 601978
HGNC: 8157
Ensembl: ENSG00000147955

Variants:

dbSNP: 10280
ClinVar: 10280
TCGA: ENSG00000147955
COSMIC: SIGMAR1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000147955ENST00000277010Q99720
ENSG00000147955ENST00000353468Q99720
ENSG00000147955ENST00000378892Q5T1J1
ENSG00000147955ENST00000477726Q99720
ENSG00000147955ENST00000477726A2A3U5

Expression (GTEx)

0
50
100
150

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
185839792008Systematic meta-analyses and field synopsis of genetic association studies in schizophrenia: the SzGene database.395
218424962011A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis.104
270429352016Crystal structure of the human σ1 receptor.99
200539542010Detergent-resistant microdomains determine the localization of sigma-1 receptors to the endoplasmic reticulum-mitochondria junction.77
242047102013Sigma-1 receptor chaperone at the ER-mitochondrion interface mediates the mitochondrion-ER-nucleus signaling for cellular survival.73
192047262009Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease.63
210315792010Sigma nonopioid intracellular receptor 1 mutations cause frontotemporal lobar degeneration-motor neuron disease.50
278214302016Mitochondria-associated membrane collapse is a common pathomechanism in SIGMAR1- and SOD1-linked ALS.50
257040142015Role of sigma-1 receptors in neurodegenerative diseases.49
185395932008Role of sigma-1 receptor C-terminal segment in inositol 1,4,5-trisphosphate receptor activation: constitutive enhancement of calcium signaling in MCF-7 tumor cells.43

Citation

Dessen P

SIGMAR1 (sigma non-opioid intracellular receptor 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45709/sigmar1