SIGMAR1

Chr 9p13.3

sigma non-opioid intracellular receptor 1

Aliases:: SR-BP1
MANE:: ENST00000277010.9

OMIM: 601978 ↗NCBI: 10280 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SIGMAR1 · Q99720

v62025-08-01

Predicted Aligned Error matrix for SIGMAR1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

93.7/ 100

Very high

223 residues

Confidence breakdown

Very high(≥ 90)86%
Confident(70–90)10%
Low(50–70)3%
Very low(< 50)0%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Amyotrophic lateral sclerosis/motor neuron disease
BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy
BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder
BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
Other - please specify in evaluation comments
Paediatric motor neuronopathies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

autosomal recessive distal spinal muscular atrophy 2
0.70
juvenile amyotrophic lateral sclerosis
0.68
Cough
0.60
Nasal congestion
0.60
common cold
0.60
Headache
0.60
seasonal allergic rhinitis
0.60
Fever
0.60
pharyngitis
0.60
Pain
0.58

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Sigma non-opioid intracellular receptor 1

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 (PubMed:16472803, PubMed:9341151). Necessary for proper mitochondrial axonal transport in motor neurons, in particular the retrograde movement of mitochondria. Plays a role in protecting cells against oxidative stress-induced cell death via its interaction with RNF112 (By similarity)