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Gene

SIGMAR1

sigma receptor chaperone 1

Summary

Cytogenetic location
9p13.3
Coordinates
Chromosome 9: 34,634,722–34,637,787 (GRCh38)
Exons
4 exons across 3.1 kb
Protein
223 amino acids
Also known as
S1R, SIGMA1R, SR-BP1
Previous symbols
OPRS1
MANE Select transcript
ENST00000277010.9NM_005866.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Amyotrophic Lateral Sclerosis (ALS)

    • Amyotrophic Lateral Sclerosis

      A neurodegenerative disorder of upper and lower motor neurons, occurring in sporadic and familial forms.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Tofersen (Qalsody, FDA 2023) for SOD1-ALS; ASO trials for C9orf72 and FUS; riluzole; edaravone; AMX0035 (sodium phenylbutyrate-taurursodiol); multidisciplinary ALS clinic care; respiratory support; genetic counseling for family members

  • Charcot-Marie-Tooth Disease

    • Distal Hereditary Motor Neuropathy

      Inherited neuropathies that mainly affect motor nerves, causing weakness and wasting of the hands and feet, including SORD-related neuropathy.

      • 1 GenCC submitter rates it definitive or strong

  • Spinal Muscular Atrophy

    • A group of disorders characterised by degeneration of spinal cord anterior horn cells, leading to progressive muscle weakness and atrophy.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Gene therapy (onasemnogene abeparvovec), antisense oligonucleotide therapy (nusinersen), oral splicing modifier (risdiplam), supportive care

How SIGMAR1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 9, with a bracket where SIGMAR1 sits. SIGMAR1 and 30 genes near it on chromosome 9, from 34,136,255 to 35,136,254.Chromosome 99p13.3p24.3p24.2p24.1p23p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q13q21.11q21.12q21.13q21.2q21.31q21.32q21.33q22.1q22.2q22.31q22.32q22.33q31.1q31.2q31.3q32q33.1q33.2q33.3q34.11q34.12q34.13q34.2q34.334.2 Mb34.4 Mb34.6 Mb34.8 Mb35 MbUBAP1: 34,179,005–34,252,523, forward strandUBAP1KIF24: 34,248,327–34,329,282, reverse strandKIF24NUDT2: 34,329,496–34,343,713, forward strandNUDT2MYORG: 34,366,623–34,377,150, reverse strandMYORGSPMIP6: 34,379,019–34,397,828, reverse strandSPMIP6FAM219A: 34,398,184–34,458,591, reverse strandFAM219ADNAI1: 34,457,414–34,520,988, forward strandDNAI1ENHO: 34,521,043–34,523,174, reverse strandENHOCNTFR: 34,551,423–34,593,478, reverse strandCNTFRRPP25L: 34,610,486–34,612,605, reverse strandDCTN3: 34,613,545–34,620,529, reverse strandARID3C: 34,621,049–34,630,503, reverse strandARID3CSIGMAR1: 34,634,722–34,637,787, reverse strandSIGMAR1GALT: 34,637,367–34,651,754, forward strandGALT: 34,646,631–34,661,886, forward strandIL11RA: 34,651,582–34,661,902, forward strandCCL27: 34,661,880–34,664,048, reverse strand: 34,664,163–34,666,122, reverse strandCCL19: 34,689,562–34,691,355, reverse strandCCL21: 34,709,005–34,710,167, reverse strandCCL21SPATA31F1: 34,719,196–34,729,538, reverse strandSPATA31F1SPATA31F3: 34,889,062–34,895,797, reverse strandSPATA31F3PHF24: 34,957,608–34,982,544, forward strandPHF24DNAJB5: 34,989,641–34,999,403, forward strandDNAJB5SPATA31G1: 35,041,095–35,045,986, forward strandSPATA31G1VCP: 35,053,928–35,072,725, reverse strandVCP: 35,065,339–35,074,175, reverse strandFANCG: 35,073,793–35,082,444, reverse strandFANCGPIGO: 35,085,492–35,096,632, reverse strandSTOML2: 35,099,469–35,103,195, reverse strandATOSB: 35,104,112–35,116,357, reverse strandATOSBDiagram of SIGMAR1: 4 exons on the reverse strand of chromosome 9Exon 4: 8 known disease-causing sitesExon 3: 2 known disease-causing sitesExon 2: 5 known disease-causing sitesExon 1: 7 known disease-causing sitesExon 4: 34,634,722–34,635,858, 1,137 basesExon 3: 34,636,997–34,637,089, 93 basesExon 2: 34,637,220–34,637,420, 201 basesExon 1: 34,637,547–34,637,787, 241 bases43215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 1.7 kb of the gene's 3.1 kb; 672 of those bases code for the protein.

How a genome test reads SIGMAR1

26

positions in SIGMAR1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 3.1 kb of SIGMAR1, introns included, not only the 1.7 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). SIGMAR1 gene: sigma receptor chaperone 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/sigmar1

Vancouver

Dante Labs. SIGMAR1 gene: sigma receptor chaperone 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/sigmar1

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