Linked Life Data

Q99720

Source:http://identifiers.org/uniprot/Q99720

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
biopax3:comment
FUNCTION: Functions in lipid transport from the endoplasmic reticulum and is involved in a wide array of cellular functions probably through regulation of the biogenesis of lipid microdomains at the plasma membrane. Involved in the regulation of different receptors it plays a role in BDNF signaling and EGF signaling. Also regulates ion channels like the potassium channel and could modulate neurotransmitter release. Plays a role in calcium signaling through modulation together with ANK2 of the ITP3R-dependent calcium efflux at the endoplasmic reticulum. Plays a role in several other cell functions including proliferation, survival and death. Originally identified for its ability to bind various psychoactive drugs it is involved in learning processes, memory and mood alteration. SUBUNIT: Forms a ternary complex with ANK2 and ITPR3. The complex is disrupted by agonists. Interacts with KCNA4 (By similarity). SUBCELLULAR LOCATION: Nucleus inner membrane. Nucleus outer membrane. Endoplasmic reticulum membrane. Lipid droplet. Cell junction. Cell membrane. Cell projection, growth cone. Note=Targeted to lipid droplets, cholesterol and galactosylceramide-enriched domains of the endoplasmic reticulum. Enriched at cell-cell communication regions, growth cone and postsynaptic structures. Localization is modulated by ligand- binding. ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=5; Name=1; IsoId=Q99720-1; Sequence=Displayed; Name=2; IsoId=Q99720-2; Sequence=VSP_021982; Name=3; Synonyms=Sigma-R1A; IsoId=Q99720-3; Sequence=VSP_021986; Name=4; IsoId=Q99720-4; Sequence=VSP_021984, VSP_021985; Name=5; IsoId=Q99720-5; Sequence=VSP_021981, VSP_021983; Note=No experimental confirmation available; 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. DISEASE: Defects in SIGMAR1 are the cause of amyotrophic lateral sclerosis type 16, juvenile (ALS16) [MIM:614373]. ALS16 is a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5- 10% of the cases. MISCELLANEOUS: Depletion by RNAi inhibits growth and survival signaling cascades and induces cell death. The antagonist rimcazole produces the same effect. SIMILARITY: Belongs to the ERG2 family. WEB RESOURCE: Name=Wikipedia; Note=Sigma-1 receptor entry; URL="http://en.wikipedia.org/wiki/Sigma_1_Receptor"; GENE SYNONYMS:SIGMAR1 OPRS1 SRBP. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License., SEQUENCE 223 AA; 25128 MW; 0C498636BEB1C443 CRC64;
biopax3:xref
biopax3:displayName
SGMR1_HUMAN
biopax3:name
Aging-associated gene 8 protein, SIG-1R, SIGMAR1, SR-BP, SR31747-binding protein, Sigma 1-type opioid receptor, Sigma1-receptor, Sigma1R, hSigmaR1
biopax3:organism
biopax3:sequence
MQWAVGRRWAWAALLLAVAAVLTQVVWLWLGTQSFVFQREEIAQLARQYAGLDHELAFSRLIVELRRLHPGHVLPDEELQWVFVNAGGWMGAMCLLHASLSEYVLLFGTALGSRGHSGRYWAEISDTIISGTFHQWREGTTKSEVFYPGETVVHGPGEATAVEWGPNTWMVEYGRGVIPSTLAFALADTVFSTQDFLTLFYTLRSYARGLRLELTTYLFGQDP
biopax3:standardName
Sigma non-opioid intracellular receptor 1