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Q99720

- SGMR1_HUMAN

UniProt

Q99720 - SGMR1_HUMAN

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Protein

Sigma non-opioid intracellular receptor 1

Gene

SIGMAR1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

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.2 Publications

GO - Molecular functioni

  1. drug binding Source: ProtInc
  2. opioid receptor activity Source: Ensembl

GO - Biological processi

  1. cell death Source: UniProtKB-KW
  2. lipid transport Source: UniProtKB-KW
  3. nervous system development Source: Ensembl
  4. regulation of neuron apoptotic process Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Receptor

Keywords - Biological processi

Lipid transport, Transport

Names & Taxonomyi

Protein namesi
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 namesi
Name:SIGMAR1
Synonyms:OPRS1, SRBP
ORF Names:AAG8
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 9

Organism-specific databases

HGNCiHGNC:8157. SIGMAR1.

Subcellular locationi

Nucleus inner membrane. Nucleus outer membrane. Endoplasmic reticulum membrane. Lipid droplet. Cell junction. Cell membrane. Cell projectiongrowth 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.

GO - Cellular componenti

  1. cell junction Source: UniProtKB-KW
  2. cell projection Source: UniProtKB-KW
  3. endoplasmic reticulum Source: UniProtKB-KW
  4. integral component of membrane Source: ProtInc
  5. integral component of plasma membrane Source: ProtInc
  6. lipid particle Source: UniProtKB-KW
  7. nuclear envelope Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Cell projection, Endoplasmic reticulum, Lipid droplet, Membrane, Nucleus

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti102 – 1021E → 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. 1 Publication
VAR_067311

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi123 – 1231E → G: No effect on ligand-binding. 1 Publication
Mutagenesisi126 – 1261D → G: Reduces ligand-binding. No effect on subcellular localization. 1 Publication
Mutagenesisi138 – 1381E → G: No effect on ligand-binding. 1 Publication
Mutagenesisi144 – 1441E → G: No effect on ligand-binding. 1 Publication
Mutagenesisi150 – 1501E → G: No effect on ligand-binding. 1 Publication
Mutagenesisi158 – 1581E → G: No effect on ligand-binding. 1 Publication
Mutagenesisi163 – 1631E → G: No effect on ligand-binding. 1 Publication
Mutagenesisi172 – 1721E → G: Reduces ligand-binding. No effect on subcellular localization. 1 Publication
Mutagenesisi188 – 1881D → G: No effect on ligand-binding. 1 Publication
Mutagenesisi195 – 1951D → G: No effect on ligand-binding. 1 Publication
Mutagenesisi213 – 2131E → G: No effect on ligand-binding. 1 Publication

Keywords - Diseasei

Amyotrophic lateral sclerosis, Disease mutation, Neurodegeneration

Organism-specific databases

MIMi614373. phenotype.
Orphaneti300605. Juvenile amyotrophic lateral sclerosis.
PharmGKBiPA164725706.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 223223Sigma non-opioid intracellular receptor 1PRO_0000268652Add
BLAST

Proteomic databases

MaxQBiQ99720.
PaxDbiQ99720.
PRIDEiQ99720.

PTM databases

PhosphoSiteiQ99720.

Expressioni

Tissue specificityi

Widely expressed with higher expression in liver, colon, prostate, placenta, small intestine, heart and pancreas. Expressed in the retina by retinal pigment epithelial cells.3 Publications

Gene expression databases

BgeeiQ99720.
ExpressionAtlasiQ99720. baseline and differential.
GenevestigatoriQ99720.

Organism-specific databases

HPAiCAB013470.
HPA018002.
HPA024071.

Interactioni

Subunit structurei

Forms a ternary complex with ANK2 and ITPR3. The complex is disrupted by agonists. Interacts with KCNA4 (By similarity).By similarity

Protein-protein interaction databases

BioGridi115569. 6 interactions.
IntActiQ99720. 2 interactions.

Structurei

3D structure databases

ProteinModelPortaliQ99720.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 99CytoplasmicSequence Analysis
Topological domaini31 – 8050ExtracellularSequence AnalysisAdd
BLAST
Topological domaini102 – 223122CytoplasmicSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei10 – 3021HelicalSequence AnalysisAdd
BLAST
Transmembranei81 – 10121HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni2 – 87Targeting to lipid dropletsBy similarity
Regioni118 – 14831Mediates ligand-bindingAdd
BLAST

Sequence similaritiesi

Belongs to the ERG2 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG296707.
GeneTreeiENSGT00390000012082.
HOVERGENiHBG058220.
InParanoidiQ99720.
OMAiFYTLRAY.
PhylomeDBiQ99720.
TreeFamiTF300106.

Family and domain databases

InterProiIPR006716. ERG2_sigma1_rcpt-like.
IPR028545. SIGMAR1.
[Graphical view]
PANTHERiPTHR10868. PTHR10868. 1 hit.
PfamiPF04622. ERG2_Sigma1R. 1 hit.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q99720) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MQWAVGRRWA WAALLLAVAA VLTQVVWLWL GTQSFVFQRE EIAQLARQYA
60 70 80 90 100
GLDHELAFSR LIVELRRLHP GHVLPDEELQ WVFVNAGGWM GAMCLLHASL
110 120 130 140 150
SEYVLLFGTA LGSRGHSGRY WAEISDTIIS GTFHQWREGT TKSEVFYPGE
160 170 180 190 200
TVVHGPGEAT AVEWGPNTWM VEYGRGVIPS TLAFALADTV FSTQDFLTLF
210 220
YTLRSYARGL RLELTTYLFG QDP
Length:223
Mass (Da):25,128
Last modified:May 1, 1997 - v1
Checksum:i0C498636BEB1C443
GO
Isoform 2 (identifier: Q99720-2) [UniParc]FASTAAdd to Basket

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

Show »
Length:203
Mass (Da):22,803
Checksum:i755BFC0F9182D947
GO
Isoform 3 (identifier: Q99720-3) [UniParc]FASTAAdd to Basket

Also known as: Sigma-R1A

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

Show »
Length:192
Mass (Da):21,483
Checksum:i9E0C6A120A89126F
GO
Isoform 4 (identifier: Q99720-4) [UniParc]FASTAAdd to Basket

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

Show »
Length:106
Mass (Da):11,992
Checksum:i8A4FDBFAFF6DAEEE
GO
Isoform 5 (identifier: Q99720-5) [UniParc]FASTAAdd to Basket

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

Note: No experimental confirmation available.

Show »
Length:187
Mass (Da):21,013
Checksum:iE50731B80FB98FBF
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti151 – 1511T → A in AAF64280. 1 PublicationCurated
Sequence conflicti168 – 1681T → A in ABG29111. 1 PublicationCurated
Sequence conflicti208 – 2081R → W in AAV33304. 1 PublicationCurated
Sequence conflicti218 – 2181L → I in ABG29111. 1 PublicationCurated
Sequence conflicti219 – 2191F → S in BAD96619. 1 PublicationCurated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti2 – 21Q → P.1 Publication
Corresponds to variant rs1800866 [ dbSNP | Ensembl ].
VAR_029750
Natural varianti102 – 1021E → 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. 1 Publication
VAR_067311
Natural varianti211 – 2111R → Q.1 Publication
Corresponds to variant rs192644838 [ dbSNP | Ensembl ].
VAR_029751

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei31 – 5222Missing in isoform 5. 1 PublicationVSP_021981Add
BLAST
Alternative sequencei31 – 5020Missing in isoform 2. 1 PublicationVSP_021982Add
BLAST
Alternative sequencei63 – 7614Missing in isoform 5. 1 PublicationVSP_021983Add
BLAST
Alternative sequencei103 – 1064YVLL → ALLG in isoform 4. 2 PublicationsVSP_021984
Alternative sequencei107 – 223117Missing in isoform 4. 2 PublicationsVSP_021985Add
BLAST
Alternative sequencei118 – 14831Missing in isoform 3. 2 PublicationsVSP_021986Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS6562.1. [Q99720-1]
CCDS6563.1. [Q99720-3]
PIRiJC5266.
RefSeqiNP_001269134.1. NM_001282205.1.
NP_001269135.1. NM_001282206.1.
NP_001269136.1. NM_001282207.1. [Q99720-2]
NP_001269137.1. NM_001282208.1.
NP_001269138.1. NM_001282209.1.
NP_005857.1. NM_005866.3. [Q99720-1]
NP_671513.1. NM_147157.2. [Q99720-3]
UniGeneiHs.522087.

Genome annotation databases

EnsembliENST00000277010; ENSP00000277010; ENSG00000147955. [Q99720-1]
ENST00000353468; ENSP00000434453; ENSG00000147955. [Q99720-4]
ENST00000477726; ENSP00000420022; ENSG00000147955. [Q99720-3]
GeneIDi10280.
KEGGihsa:10280.
UCSCiuc003zuz.3. human. [Q99720-1]
uc003zva.4. human. [Q99720-2]

Polymorphism databases

DMDMi74752153.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Wikipedia

Sigma-1 receptor entry

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS6562.1. [Q99720-1 ]
CCDS6563.1. [Q99720-3 ]
PIRi JC5266.
RefSeqi NP_001269134.1. NM_001282205.1.
NP_001269135.1. NM_001282206.1.
NP_001269136.1. NM_001282207.1. [Q99720-2 ]
NP_001269137.1. NM_001282208.1.
NP_001269138.1. NM_001282209.1.
NP_005857.1. NM_005866.3. [Q99720-1 ]
NP_671513.1. NM_147157.2. [Q99720-3 ]
UniGenei Hs.522087.

3D structure databases

ProteinModelPortali Q99720.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 115569. 6 interactions.
IntActi Q99720. 2 interactions.

Chemistry

BindingDBi Q99720.
ChEMBLi CHEMBL287.
DrugBanki DB00321. Amitriptyline.
DB00514. Dextromethorphan.
DB00540. Nortriptyline.
DB00652. Pentazocine.
DB00409. Remoxipride.
GuidetoPHARMACOLOGYi 2552.

PTM databases

PhosphoSitei Q99720.

Polymorphism databases

DMDMi 74752153.

Proteomic databases

MaxQBi Q99720.
PaxDbi Q99720.
PRIDEi Q99720.

Protocols and materials databases

DNASUi 10280.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000277010 ; ENSP00000277010 ; ENSG00000147955 . [Q99720-1 ]
ENST00000353468 ; ENSP00000434453 ; ENSG00000147955 . [Q99720-4 ]
ENST00000477726 ; ENSP00000420022 ; ENSG00000147955 . [Q99720-3 ]
GeneIDi 10280.
KEGGi hsa:10280.
UCSCi uc003zuz.3. human. [Q99720-1 ]
uc003zva.4. human. [Q99720-2 ]

Organism-specific databases

CTDi 10280.
GeneCardsi GC09M034634.
H-InvDB HIX0008000.
HIX0169361.
HGNCi HGNC:8157. SIGMAR1.
HPAi CAB013470.
HPA018002.
HPA024071.
MIMi 601978. gene.
614373. phenotype.
neXtProti NX_Q99720.
Orphaneti 300605. Juvenile amyotrophic lateral sclerosis.
PharmGKBi PA164725706.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG296707.
GeneTreei ENSGT00390000012082.
HOVERGENi HBG058220.
InParanoidi Q99720.
OMAi FYTLRAY.
PhylomeDBi Q99720.
TreeFami TF300106.

Miscellaneous databases

ChiTaRSi SIGMAR1. human.
GeneWikii Sigma-1_receptor.
GenomeRNAii 10280.
NextBioi 38946.
PROi Q99720.
SOURCEi Search...

Gene expression databases

Bgeei Q99720.
ExpressionAtlasi Q99720. baseline and differential.
Genevestigatori Q99720.

Family and domain databases

InterProi IPR006716. ERG2_sigma1_rcpt-like.
IPR028545. SIGMAR1.
[Graphical view ]
PANTHERi PTHR10868. PTHR10868. 1 hit.
Pfami PF04622. ERG2_Sigma1R. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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. 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. 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.

Entry informationi

Entry nameiSGMR1_HUMAN
AccessioniPrimary (citable) accession number: Q99720
Secondary accession number(s): D3DRM7
, O00673, O00725, Q0Z9W6, Q153Z1, Q2TSD1, Q53GN2, Q7Z653, Q8N7H3, Q9NYX0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 12, 2006
Last sequence update: May 1, 1997
Last modified: October 29, 2014
This is version 117 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Miscellaneous

Depletion by RNAi inhibits growth and survival signaling cascades and induces cell death. The antagonist rimcazole produces the same effect.

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3