• Gene id: 10280

Gene Summary

• Gene Symbol: SIGMAR1   Gene   UCSC   Ensembl
• Aliases: ALS16, DSMA2, OPRS1, SIG-1R, SR-BP, SR-BP1, SRBP, hSigmaR1, sigma1R
• Gene name: sigma non-opioid intracellular receptor 1
• Alternate names: sigma non-opioid intracellular receptor 1, SR31747 binding protein 1, aging-associated gene 8 protein, sigma 1-type opioid receptor,
• Gene location: 9p13.3 (34637825: 34634721)     Exons: 4     NC_000009.12
• Gene summary(Entrez): This gene encodes a receptor protein that interacts with a variety of psychotomimetic drugs, including cocaine and amphetamines. The receptor is believed to play an important role in the cellular functions of various tissues associated with the endocrine,

Protein Summary

• Protein general information: Q99720  
  • Name: Sigma non opioid intracellular receptor 1 (Aging associated gene 8 protein) (SR31747 binding protein) (SR BP) (Sigma 1 type opioid receptor) (SIG 1R) (Sigma1 receptor) (Sigma1R) (hSigmaR1)
  • Length: 223  
  • Mass: 25128
  • Tissue specificity: Widely expressed with higher expression in liver, colon, prostate, placenta, small intestine, heart and pancreas. Expressed in the retina by retinal pigment epithelial cells. Expressed in alpha-motor neurons (PubMed
• Sequence:

  MQWAVGRRWAWAALLLAVAAVLTQVVWLWLGTQSFVFQREEIAQLARQYAGLDHELAFSRLIVELRRLHPGHVLP
  DEELQWVFVNAGGWMGAMCLLHASLSEYVLLFGTALGSRGHSGRYWAEISDTIISGTFHQWREGTTKSEVFYPGE
  TVVHGPGEATAVEWGPNTWMVEYGRGVIPSTLAFALADTVFSTQDFLTLFYTLRSYARGLRLELTTYLFGQDP

• Structural information:
  • Interpro: IPR006716  
  • PDB: 5HK1 5HK2 6DJZ 6DK0 6DK1
  • PDBsum: 5HK1 5HK2 6DJZ 6DK0 6DK1
  • DIP: 61974
  • STRING: ENSP00000277010
• Other Databases: GeneCards:  SIGMAR1  Malacards:  SIGMAR1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0038003	opioid receptor signaling pathway	IEA	biological process
GO:0005635	nuclear envelope	IDA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0005811	lipid droplet	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0006869	lipid transport	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0008144	drug binding	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0016021	integral component of membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0038023	signaling receptor activity	IEA	molecular function
GO:0014069	postsynaptic density	IEA	cellular component
GO:0036474	cell death in response to hydrogen peroxide	IEA	biological process
GO:0004985	opioid receptor activity	IEA	molecular function
GO:0007399	nervous system development	IEA	biological process
GO:0005640	nuclear outer membrane	IEA	cellular component
GO:0005635	nuclear envelope	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0030426	growth cone	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005811	lipid droplet	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0098839	postsynaptic density membrane	IEA	cellular component
GO:0005637	nuclear inner membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005635	nuclear envelope	IDA	cellular component
GO:0016021	integral component of membrane	IDA	cellular component
GO:0014069	postsynaptic density	IDA	cellular component
GO:0070207	protein homotrimerization	IPI	biological process
GO:0043523	regulation of neuron apoptotic process	IMP	biological process
GO:0036474	cell death in response to hydrogen peroxide	ISS	biological process

Diseases

Associated diseases	References
Amyotrophic lateral sclerosis	KEGG:H00058
Distal hereditary motor neuropathies	KEGG:H00856
Amyotrophic lateral sclerosis	KEGG:H00058
Distal hereditary motor neuropathies	KEGG:H00856
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881