Sigmar1 MGI Mouse Gene Detail - MGI:1195268 - sigma non-opioid intracellular receptor 1

Symbol

Sigmar1
Name

sigma non-opioid intracellular receptor 1
Synonyms

mSigmaR1, Oprs1, Sig1R

Feature Type

protein coding gene
IDs

MGI:1195268
NCBI Gene: 18391
Alliance

gene page
Transcription Start Sites

8 TSS

Sequence Map

Chr4:41738493-41741359 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 4, 22.05 cM, cytoband A5-B2
Mapping Data

3 experiments

SNPs within 2kb

60 from dbSNP Build 142
Strain Annotations

17

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1195268	protein coding gene	Chr4:41738493-41756157 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0028171	protein coding gene	Chr4:39704427-39723041 (-)
A/J	MGP_AJ_G0028129	protein coding gene	Chr4:38194916-38212610 (-)
AKR/J	MGP_AKRJ_G0028092	protein coding gene	Chr4:39183468-39204722 (-)
BALB/cJ	MGP_BALBcJ_G0028142	protein coding gene	Chr4:38537712-38555283 (-)
C3H/HeJ	MGP_C3HHeJ_G0027880	protein coding gene	Chr4:39776812-39794405 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0028583	protein coding gene	Chr4:41201129-41218818 (-)
CAROLI/EiJ	no annotation
CAST/EiJ	MGP_CASTEiJ_G0027325	protein coding gene	Chr4:39421515-39439227 (-)
CBA/J	MGP_CBAJ_G0027842	protein coding gene	Chr4:42570712-42590898 (-)
DBA/2J	MGP_DBA2J_G0027986	protein coding gene	Chr4:38122483-38140580 (-)
FVB/NJ	MGP_FVBNJ_G0027953	protein coding gene	Chr4:37442066-37460927 (-)
LP/J	MGP_LPJ_G0028094	protein coding gene	Chr4:39795188-39813794 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0027985	protein coding gene	Chr4:45884250-45902982 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0028641	protein coding gene	Chr4:39296519-39315405 (-)
PWK/PhJ	MGP_PWKPhJ_G0027044	protein coding gene	Chr4:38163884-38181659 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0026871	protein coding gene	Chr4:39026901-39046849 (-)
WSB/EiJ	MGP_WSBEiJ_G0027401	protein coding gene	Chr4:39280660-39299071 (-)

Human Ortholog

SIGMAR1, sigma non-opioid intracellular receptor 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SIGMAR1, sigma non-opioid intracellular receptor 1
Synonyms

ALS16, DSMA2, HMNR2, hSigmaR1, OPRS1, SIG-1R, sigma1R, SR-BP, SRBP, SR-BP1
Links

HGNC:8157

NCBI Gene ID: 10280

neXtProt AC: NX_Q99720

UniProt: Q99720
Chr Location

9p13.3

MGI Vertebrate Homology

Sigmar1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: SIGMAR1
Gene Tree

Sigmar1

Diseases

2 with human SIGMAR1 associations

				Human Disease	Mouse Models
				amyotrophic lateral sclerosis type 16 IDs amyotrophic lateral sclerosis type 16 DOID:0060207 OMIM:614373
				autosomal recessive distal hereditary motor neuronopathy 2 IDs autosomal recessive distal hereditary motor neuronopathy 2 DOID:0111065 MESH:C535715 OMIM:605726 ORDO:139552 UMLS_CUI:C1854023

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

6 phenotypes from 3 alleles in 3 genetic backgrounds
85 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

12
Chemically and radiation induced

1
Endonuclease-mediated

6
Gene trapped

2
Targeted

3
Genomic Mutations

1 involving Sigmar1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

21 strains or lines available

Mice homozygous for a gene trapped allele exhibit abnormal motor coordination and increased depressive-like behavior. Mice homozygous for a knock-out allele exhibit reduced sponataneous activity.

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All GO Annotations

36
GO References

14

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

786
Tissues

49
cDNA Data

92
Literature Summary

6

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase sigmar1

ZFIN sigmar1

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All Sequences

75
RefSeq

16
UniProt

7
CCDS

CCDS18070.1, CCDS71362.1

Ensembl

ENSMUSG00000036078 (Evidence)
NCBI Gene

18391

			Length	Strain/Species	Flank
genomic	18391	NCBI Gene Model \| MGI Sequence Detail	2867	C57BL/6J	± kb
transcript	NM_011014	RefSeq \| MGI Sequence Detail	1640	C57BL/6
polypeptide	O55242	UniProt \| EBI \| MGI Sequence Detail	223	Not Applicable

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UniProt

7 Sequences
Protein Ontology

PR:000011650 sigma non-opioid intracellular receptor 1

(term hierarchy)
InterPro Domains

IPR006716 ERG2/sigma1 receptor-like

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All nucleic 94

Genomic 2

cDNA 92

Microarray probesets 6

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MGI:2140414

Summaries

All 145

Developmental Gene Expression 6

Gene Ontology 14

Phenotypes 85
Earliest

J:44925 Seth P, et al., Cloning and structural analysis of the cDNA and the gene encoding the murine type 1 sigma receptor. Biochem Biophys Res Commun. 1997 Dec 18;241(2):535-40
Latest

J:348365 Remex NS, et al., Deletion of Sigmar1 leads to increased arterial stiffness and altered mitochondrial respiration resulting in vascular dysfunction. Front Physiol. 2024;15:1386296

TSS for Sigmar1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr41377	Chr4:41741301-41741346 (-)	35 bp
Tssr41376	Chr4:41741278-41741300 (-)	70 bp
Tssr41375	Chr4:41741014-41741053 (-)	325 bp
Tssr41374	Chr4:41740975-41741002 (-)	370 bp
Tssr41373	Chr4:41740936-41740964 (-)	409 bp
Tssr41372	Chr4:41740874-41740896 (-)	474 bp
Tssr41371	Chr4:41740840-41740864 (-)	507 bp
Tssr41370	Chr4:41739487-41739505 (-)	1,863 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/10/2024 MGI 6.24