Q99720 (SGMR1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Sigma non-opioid intracellular receptor 1

Alternative name(s):
Aging-associated gene 8 protein
SR31747-binding protein
Short name=SR-BP
Sigma 1-type opioid receptor
Short name=SIG-1R
Short name=Sigma1-receptor
Short name=Sigma1R
Short name=hSigmaR1

Gene names

Name:	SIGMAR1
Synonyms:	OPRS1, SRBP
ORF Names:	AAG8

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	223 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

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. Ref.2 Ref.17
Subunit structure	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. Ref.2 Ref.13
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. Ref.1 Ref.2 Ref.16
Involvement in disease	Amyotrophic lateral sclerosis 16, juvenile (ALS16) [MIM:614373]: 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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.20
Miscellaneous	Depletion by RNAi inhibits growth and survival signaling cascades and induces cell death. The antagonist rimcazole produces the same effect.
Sequence similarities	Belongs to the ERG2 family.

Ontologies

Keywords
Biological process	Lipid transport Transport
Cellular component	Cell junction Cell membrane Cell projection Endoplasmic reticulum Lipid droplet Membrane Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Amyotrophic lateral sclerosis Disease mutation Neurodegeneration
Domain	Transmembrane Transmembrane helix
Molecular function	Receptor
Technical term	Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological_process	cell death Inferred from electronic annotation. Source: UniProtKB-KW ergosterol biosynthetic process Inferred from electronic annotation. Source: InterPro lipid transport Inferred from electronic annotation. Source: UniProtKB-KW nervous system development Inferred from electronic annotation. Source: Compara regulation of neuron apoptotic process Inferred from mutant phenotype Ref.20. Source: UniProtKB
Cellular_component	cell junction Inferred from electronic annotation. Source: UniProtKB-SubCell endoplasmic reticulum membrane Inferred from electronic annotation. Source: UniProtKB-SubCell growth cone Inferred from electronic annotation. Source: UniProtKB-SubCell integral to plasma membrane Traceable author statement Ref.1. Source: ProtInc lipid particle Inferred from electronic annotation. Source: UniProtKB-SubCell nuclear envelope Inferred from direct assay Ref.2. Source: UniProtKB nuclear inner membrane Inferred from electronic annotation. Source: UniProtKB-SubCell nuclear outer membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	C-8 sterol isomerase activity Inferred from electronic annotation. Source: InterPro drug binding Traceable author statement Ref.1. Source: ProtInc opioid receptor activity Inferred from electronic annotation. Source: Compara
Complete GO annotation...

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q99720-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q99720-2)

The sequence of this isoform differs from the canonical sequence as follows:
     31-50: Missing.

Isoform 3 (identifier: Q99720-3)

Also known as: Sigma-R1A;

The sequence of this isoform differs from the canonical sequence as follows:
     118-148: Missing.

Isoform 4 (identifier: Q99720-4)

The sequence of this isoform differs from the canonical sequence as follows:
     103-106: YVLL → ALLG
     107-223: Missing.

Isoform 5 (identifier: Q99720-5)

The sequence of this isoform differs from the canonical sequence as follows:
     31-52: Missing.
     63-76: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 223	223	Sigma non-opioid intracellular receptor 1		PRO_0000268652
Regions
	Topological domain	1 – 9	9	Cytoplasmic Potential
	Transmembrane	10 – 30	21	Helical; Potential
	Topological domain	31 – 80	50	Extracellular Potential
	Transmembrane	81 – 101	21	Helical; Potential
	Topological domain	102 – 223	122	Cytoplasmic Potential
	Region	2 – 8	7	Targeting to lipid droplets By similarity
	Region	118 – 148	31	Mediates ligand-binding
Natural variations
	Alternative sequence	31 – 52	22	Missing in isoform 5.		VSP_021981
	Alternative sequence	31 – 50	20	Missing in isoform 2.		VSP_021982
	Alternative sequence	63 – 76	14	Missing in isoform 5.		VSP_021983
	Alternative sequence	103 – 106	4	YVLL → ALLG in isoform 4.		VSP_021984
	Alternative sequence	107 – 223	117	Missing in isoform 4.		VSP_021985
	Alternative sequence	118 – 148	31	Missing in isoform 3.		VSP_021986
	Natural variant	2	1	Q → P. Ref.19 Corresponds to variant rs1800866 [ dbSNP | Ensembl ].		VAR_029750
	Natural variant	102	1	E → Q in ALS16; the mutation decreases the viability of motor neurons; the mutant protein is shifted to lower density membranes and forms detergent-resistant complexes; there is an almost 2-fold increase in apoptosis in response to stress compared to controls. Ref.20		VAR_067311
	Natural variant	211	1	R → Q. Ref.19		VAR_029751
Experimental info
	Mutagenesis	123	1	E → G: No effect on ligand-binding. Ref.15
	Mutagenesis	126	1	D → G: Reduces ligand-binding. No effect on subcellular localization. Ref.15
	Mutagenesis	138	1	E → G: No effect on ligand-binding. Ref.15
	Mutagenesis	144	1	E → G: No effect on ligand-binding. Ref.15
	Mutagenesis	150	1	E → G: No effect on ligand-binding. Ref.15
	Mutagenesis	158	1	E → G: No effect on ligand-binding. Ref.15
	Mutagenesis	163	1	E → G: No effect on ligand-binding. Ref.15
	Mutagenesis	172	1	E → G: Reduces ligand-binding. No effect on subcellular localization. Ref.15
	Mutagenesis	188	1	D → G: No effect on ligand-binding. Ref.15
	Mutagenesis	195	1	D → G: No effect on ligand-binding. Ref.15
	Mutagenesis	213	1	E → G: No effect on ligand-binding. Ref.15
	Sequence conflict	151	1	T → A in AAF64280. Ref.4
	Sequence conflict	168	1	T → A in ABG29111. Ref.6
	Sequence conflict	208	1	R → W in AAV33304. Ref.5
	Sequence conflict	218	1	L → I in ABG29111. Ref.6
	Sequence conflict	219	1	F → S in BAD96619. Ref.9

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 1, 1997. Version 1. Checksum: 0C498636BEB1C443	FASTA	223	25,128
	10 20 30 40 50 60 MQWAVGRRWA WAALLLAVAA VLTQVVWLWL GTQSFVFQRE EIAQLARQYA GLDHELAFSR 70 80 90 100 110 120 LIVELRRLHP GHVLPDEELQ WVFVNAGGWM GAMCLLHASL SEYVLLFGTA LGSRGHSGRY 130 140 150 160 170 180 WAEISDTIIS GTFHQWREGT TKSEVFYPGE TVVHGPGEAT AVEWGPNTWM VEYGRGVIPS 190 200 210 220 TLAFALADTV FSTQDFLTLF YTLRSYARGL RLELTTYLFG QDP
	Isoform 2 [UniParc]. Checksum: 755BFC0F9182D947	FASTA	203	22,803
	10 20 30 40 50 60 MQWAVGRRWA WAALLLAVAA VLTQVVWLWL GLDHELAFSR LIVELRRLHP GHVLPDEELQ 70 80 90 100 110 120 WVFVNAGGWM GAMCLLHASL SEYVLLFGTA LGSRGHSGRY WAEISDTIIS GTFHQWREGT 130 140 150 160 170 180 TKSEVFYPGE TVVHGPGEAT AVEWGPNTWM VEYGRGVIPS TLAFALADTV FSTQDFLTLF 190 200 YTLRSYARGL RLELTTYLFG QDP
	Isoform 3 (Sigma-R1A) [UniParc]. Checksum: 9E0C6A120A89126F	FASTA	192	21,483
	10 20 30 40 50 60 MQWAVGRRWA WAALLLAVAA VLTQVVWLWL GTQSFVFQRE EIAQLARQYA GLDHELAFSR 70 80 90 100 110 120 LIVELRRLHP GHVLPDEELQ WVFVNAGGWM GAMCLLHASL SEYVLLFGTA LGSRGHSGET 130 140 150 160 170 180 VVHGPGEATA VEWGPNTWMV EYGRGVIPST LAFALADTVF STQDFLTLFY TLRSYARGLR 190 LELTTYLFGQ DP
	Isoform 4 [UniParc]. Checksum: 8A4FDBFAFF6DAEEE	FASTA	106	11,992
	10 20 30 40 50 60 MQWAVGRRWA WAALLLAVAA VLTQVVWLWL GTQSFVFQRE EIAQLARQYA GLDHELAFSR 70 80 90 100 LIVELRRLHP GHVLPDEELQ WVFVNAGGWM GAMCLLHASL SEALLG
	Isoform 5 [UniParc]. Checksum: E50731B80FB98FBF	FASTA	187	21,013
	10 20 30 40 50 60 MQWAVGRRWA WAALLLAVAA VLTQVVWLWL DHELAFSRLI EELQWVFVNA GGWMGAMCLL 70 80 90 100 110 120 HASLSEYVLL FGTALGSRGH SGRYWAEISD TIISGTFHQW REGTTKSEVF YPGETVVHGP 130 140 150 160 170 180 GEATAVEWGP NTWMVEYGRG VIPSTLAFAL ADTVFSTQDF LTLFYTLRSY ARGLRLELTT YLFGQDP

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning and functional expression of the human type 1 sigma receptor (hSigmaR1)." Kekuda R., Prasad P.D., Fei Y.-J., Leibach F.H., Ganapathy V. Biochem. Biophys. Res. Commun. 229:553-558(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY. Tissue: Choriocarcinoma.
[2]	"Purification and characterization of the human SR 31747A-binding protein. A nuclear membrane protein related to yeast sterol isomerase." Jbilo O., Vidal H., Paul R., De Nys N., Bensaid M., Silve S., Carayon P., Davi D., Galiegue S., Bourrie B., Guillemot J.-C., Ferrara P., Loison G., Maffrand J.-P., Le Fur G., Casellas P. J. Biol. Chem. 272:27107-27115(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), PROTEIN SEQUENCE OF 40-47; 48-60; 61-64; 120-133 AND 212-222, FUNCTION, TISSUE SPECIFICITY, SUBCELLULAR LOCATION. Tissue: Lymphoblast.
[3]	"Exon-intron structure, analysis of promoter region, and chromosomal localization of the human type 1 sigma receptor gene." Prasad P.D., Li H.W., Fei Y.-J., Ganapathy M.E., Fujita T., Plumley L.H., Yang-Feng T.L., Leibach F.H., Ganapathy V. J. Neurochem. 70:443-451(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[4]	Wang L.-M., Shelness G.S., Childers S.R., Mach R.H., Wheeler K.T. Submitted (JAN-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3). Tissue: Mammary gland.
[5]	"Identification of a human aging-associated gene." Kim J.W. Submitted (MAY-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[6]	"A new splice variant of sigma-1 identified in human breast cancer biopsy sample." Zhang J., Aft R.L., Zhang F., Mach R.H. Submitted (MAY-2006) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2; 3 AND 4). Tissue: Mammary cancer.
[7]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5). Tissue: Thyroid.
[8]	"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)." Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B. Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[9]	Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S. Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Kidney.
[10]	"DNA sequence and analysis of human chromosome 9." Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I. Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[11]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[12]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 4). Tissue: Brain and Muscle.
[13]	"Colocalization of sterol isomerase and sigma(1) receptor at endoplasmic reticulum and nuclear envelope level." Dussossoy D., Carayon P., Belugou S., Feraut D., Bord A., Goubet C., Roque C., Vidal H., Combes T., Loison G., Casellas P. Eur. J. Biochem. 263:377-386(1999) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION.
[14]	"Molecular and ligand-binding characterization of the sigma-receptor in the Jurkat human T lymphocyte cell line." Ganapathy M.E., Prasad P.D., Huang W., Seth P., Leibach F.H., Ganapathy V. J. Pharmacol. Exp. Ther. 289:251-260(1999) [PubMed] [Europe PMC] [Abstract] Cited for: CHARACTERIZATION (ISOFORM 3).
[15]	"Expression pattern of the type 1 sigma receptor in the brain and identity of critical anionic amino acid residues in the ligand-binding domain of the receptor." Seth P., Ganapathy M.E., Conway S.J., Bridges C.D., Smith S.B., Casellas P., Ganapathy V. Biochim. Biophys. Acta 1540:59-67(2001) [PubMed] [Europe PMC] [Abstract] Cited for: MUTAGENESIS OF GLU-123; ASP-126; GLU-138; GLU-144; GLU-150; GLU-158; GLU-163; GLU-172; ASP-188; ASP-195 AND GLU-213.
[16]	"Expression pattern of sigma receptor 1 mRNA and protein in mammalian retina." Ola M.S., Moore P., El-Sherbeny A., Roon P., Agarwal N., Sarthy V.P., Casellas P., Ganapathy V., Smith S.B. Brain Res. Mol. Brain Res. 95:86-95(2001) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY.
[17]	"Silencing of sigma-1 receptor induces cell death in human lens cells." Wang L., Duncan G. Exp. Cell Res. 312:1439-1446(2006) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION.
[18]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[19]	"Lack of association between sigma receptor gene variants and schizophrenia." Satoh F., Miyatake R., Furukawa A., Suwaki H. Psychiatry Clin. Neurosci. 58:359-363(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS PRO-2 AND GLN-211.
[20]	"A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis." Al-Saif A., Al-Mohanna F., Bohlega S. Ann. Neurol. 70:913-919(2011) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT ALS16 GLN-102, CHARACTERIZATION OF VARIANT ALS16 GLN-102.
+	Additional computationally mapped references.

Web resources

Wikipedia

Sigma-1 receptor entry

Cross-references

Sequence databases
EMBL GenBank DDBJ	U75283 mRNA. Translation: AAB50402.1. U79528 mRNA. Translation: AAB51238.1. AF001977, AF001976 Genomic DNA. Translation: AAC04507.1. AF226604 mRNA. Translation: AAF64280.1. AY633611 mRNA. Translation: AAV33304.1. DQ644568 mRNA. Translation: ABG29111.1. DQ647702 mRNA. Translation: ABG36559.1. DQ656583 mRNA. Translation: ABG46369.1. AK098451 mRNA. Translation: BAC05307.1. CR457075 mRNA. Translation: CAG33356.1. AK222899 mRNA. Translation: BAD96619.1. AL450283 Genomic DNA. Translation: CAI14185.1. CH471071 Genomic DNA. Translation: EAW58431.1. CH471071 Genomic DNA. Translation: EAW58434.1. BC004899 mRNA. Translation: AAH04899.1. BC007839 mRNA. Translation: AAH07839.1.
IPI	IPI00004267. IPI00167206. IPI00218268. IPI00376226. IPI00816436.
PIR	JC5266.
RefSeq	NP_005857.1. NM_005866.2. NP_671513.1. NM_147157.1.
UniGene	Hs.522087.
3D structure databases
ProteinModelPortal	Q99720.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q99720. 2 interactions.
PTM databases
PhosphoSite	Q99720.
Polymorphism databases
DMDM	74752153.
Proteomic databases
PaxDb	Q99720.
PRIDE	Q99720.
Protocols and materials databases
DNASU	10280.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000277010; ENSP00000277010; ENSG00000147955. ENST00000353468; ENSP00000434453; ENSG00000147955. ENST00000477726; ENSP00000420022; ENSG00000147955.
GeneID	10280.
KEGG	hsa:10280.
UCSC	uc003zuz.3. human. uc003zva.4. human.
Organism-specific databases
CTD	10280.
GeneCards	GC09M034634.
H-InvDB	HIX0008000. HIX0169361.
HGNC	HGNC:8157. SIGMAR1.
HPA	CAB013470. HPA018002. HPA024071.
MIM	601978. gene. 614373. phenotype.
neXtProt	NX_Q99720.
Orphanet	803. Amyotrophic lateral sclerosis.
PharmGKB	PA164725706.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG296707.
HOVERGEN	HBG058220.
InParanoid	Q99720.
OMA	FYTLRAY.
OrthoDB	EOG4WWRKG.
PhylomeDB	Q99720.
Gene expression databases
ArrayExpress	Q99720.
Bgee	Q99720.
Genevestigator	Q99720.
GermOnline	ENSG00000147955. Homo sapiens.
Family and domain databases
InterPro	IPR006716. ERG2_sigma1_rcpt-like. [Graphical view]
Pfam	PF04622. ERG2_Sigma1R. 1 hit. [Graphical view]
ProtoNet	Search...
Other
BindingDB	Q99720.
ChEMBL	CHEMBL287.
ChiTaRS	SIGMAR1. human.
DrugBank	DB00514. Dextromethorphan.
GenomeRNAi	10280.
NextBio	38946.
SOURCE	Search...

Entry information

Entry name

SGMR1_HUMAN

Accession

Primary (citable) accession number: Q99720
Secondary accession number(s): D3DRM7 , O00673, O00725, Q0Z9W6, Q153Z1, Q2TSD1, Q53GN2, Q7Z653, Q8N7H3, Q9NYX0

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 12, 2006
Last sequence update:	May 1, 1997
Last modified:	May 1, 2013
This is version 102 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.