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Q99720

- SGMR1_HUMAN

UniProt

Q99720 - SGMR1_HUMAN

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
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    • History
      Entry version 116 (01 Oct 2014)
      Sequence version 1 (01 May 1997)
      Previous versions | rss
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    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

    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-SubCell
    2. endoplasmic reticulum membrane Source: UniProtKB-SubCell
    3. growth cone Source: UniProtKB-SubCell
    4. integral component of membrane Source: ProtInc
    5. integral component of plasma membrane Source: ProtInc
    6. lipid particle Source: UniProtKB-SubCell
    7. nuclear envelope Source: UniProtKB
    8. nuclear inner membrane Source: UniProtKB-SubCell
    9. nuclear outer membrane Source: UniProtKB-SubCell

    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

    ArrayExpressiQ99720.
    BgeeiQ99720.
    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.
    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: Q99720-1) [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

    MQWAVGRRWA WAALLLAVAA VLTQVVWLWL GTQSFVFQRE EIAQLARQYA    50
    GLDHELAFSR LIVELRRLHP GHVLPDEELQ WVFVNAGGWM GAMCLLHASL 100
    SEYVLLFGTA LGSRGHSGRY WAEISDTIIS GTFHQWREGT TKSEVFYPGE 150
    TVVHGPGEAT AVEWGPNTWM VEYGRGVIPS TLAFALADTV FSTQDFLTLF 200
    YTLRSYARGL RLELTTYLFG QDP 223
    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 DB00514. Dextromethorphan.
    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.
    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

    ArrayExpressi Q99720.
    Bgeei Q99720.
    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

    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 1, 2014
    This is version 116 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