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STIM1 Gene

protein-coding   GIFtS: 71
GCID: GC11P003882

Stromal Interaction Molecule 1

  See STIM1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Stromal Interaction Molecule 11 2
GOK2 3
IMD102 5
TAM2 5
D11S4896E2

External Ids:    HGNC: 113861   Entrez Gene: 67862   Ensembl: ENSG000001673237   OMIM: 6059215   UniProtKB: Q135863   

Export aliases for STIM1 gene to outside databases

Previous GC identifers: GC11P004429 GC11P004142 GC11P003836 GC11P003841 GC11P003833 GC11P003876 GC11P003610 GC11P003878 GC11P003880


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for STIM1 Gene:
This gene encodes a type 1 transmembrane protein that mediates Ca2+ influx after depletion of intracellular Ca2+
stores by gating of store-operated Ca2+ influx channels (SOCs). It is one of several genes located in the
imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been
associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocrotical carcinoma, and
lung, ovarian, and breast cancer. This gene may play a role in malignancies and disease that involve this region,
as well as early hematopoiesis, by mediating attachment to stromal cells. Mutations in this gene are associated
with fatal classic Kaposi sarcoma, immunodeficiency due to defects in store-operated calcium entry (SOCE) in
fibroblasts, ectodermal dysplasia and tubular aggregate myopathy. This gene is oriented in a head-to-tail
configuration with the ribonucleotide reductase 1 gene (RRM1), with the 3' end of this gene situated 1.6 kb from
the 5' end of the RRM1 gene. Alternative splicing of this gene results in multiple transcript variants. (provided
by RefSeq, May 2013)

GeneCards Summary for STIM1 Gene:
STIM1 (stromal interaction molecule 1) is a protein-coding gene. Diseases associated with STIM1 include myopathy, tubular aggregate, 1, and stormorken syndrome. GO annotations related to this gene include microtubule plus-end binding and calcium ion binding. An important paralog of this gene is STIM2.

UniProtKB/Swiss-Prot: STIM1_HUMAN, Q13586
Function: Plays a role in mediating store-operated Ca(2+) entry (SOCE), a Ca(2+) influx following depletion of
intracellular Ca(2+) stores. Acts as Ca(2+) sensor in the endoplasmic reticulum via its EF-hand domain. Upon
Ca(2+) depletion, translocates from the endoplasmic reticulum to the plasma membrane where it activates the
Ca(2+) release-activated Ca(2+) (CRAC) channel subunit, TMEM142A/ORAI1

summary for STIM1 Gene:
STIM-Orai channels have recently been identified as the underlying molecular mechanism of store-operated
calcium entry (SOCE). SOCE allows rapid Ca2+ efflux from the endoplasmic reticulum (ER), following the
emptying of intracellular Ca2+ stores. STIM (sensors stromal interaction molecule) proteins, STIM1 and
STIM2, serve as ER Ca2+ sensors. They contain N'-terminal Ca2+-sensing EF-hand domains and are localized to
the tubular ER. Following Ca2+ store depletion, STIMs rapidly cluster and relocalize to the plasma
membrane-adjacent ER regions, where they oligomerize and form 'puncta'. Orai proteins, Orai1, Orai2 and
Orai3, are STIM binding partners that form the pore of the channel. Orai proteins are uniformly distributed
in the plasma membrane and exist as dimers in the resting state. STIM activation induces tetramerization of
Orai proteins and subsequent STIM-Orai colocalization, which forms the active store-operated calcium
channel.

Gene Wiki entry for STIM1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000011.9  NC_018922.2  NT_009237.19  
Regulatory elements:
   Regulatory transcription factor binding sites in the STIM1 gene promoter:
         SRF   MAZR   AP-1   SRF (504 AA)   ATF-2   FOXJ2 (long isoform)   FOXJ2   c-Jun   NF-kappaB1   MRF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): STIM1 promoter sequence
   Search Chromatin IP Primers for STIM1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat STIM1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11p15.5   Ensembl cytogenetic band:  11p15.4   HGNC cytogenetic band: 11p15.5

STIM1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
STIM1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P003882:  view genomic region     (about GC identifiers)

Start:
3,875,757 bp from pter      End:
4,114,440 bp from pter
Size:
238,684 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: STIM1_HUMAN, Q13586 (See protein sequence)
Recommended Name: Stromal interaction molecule 1 precursor  
Size: 685 amino acids; 77423 Da
Subunit: Forms homooligomers and heterooligomers with STIM2. Interacts with ORAI1. Interacts with MAPRE1; probably
required for targeting to the growing microtubule plus ends. Interacts with EFCAB4B/CRACR2A; the interaction is
direct and takes place in absence of Ca(2+). Forms a complex with EFCAB4B/CRACR2A and ORAI1 at low concentration
of Ca(2+), the complex dissociates at elevated Ca(2+) concentrations. Interacts with TMEM66/SARAF, promoting a
slow inactivation of STIM1-dependent SOCE activity, possibly by facilitating the deoligomerization of STIM1.
Interacts with ASPH (isoform 8)
Miscellaneous: Transfection of STIM1 into cells derived from a rhabdoid tumor and from a rhabdomyosarcoma that do
not express detectable levels of STIM1 can induce cell death, suggesting a possible role in the control of
rhabdomyosarcomas and rhabdoid tumors
5 PDB 3D structures from and Proteopedia for STIM1:
2K60 (3D)        2MAJ (3D)        2MAK (3D)        3TEQ (3D)        4O9B (3D)    
Secondary accessions: Q8N382

Explore the universe of human proteins at neXtProt for STIM1: NX_Q13586

Explore proteomics data for STIM1 at MOPED

Post-translational modifications: 

  • Glycosylation is required for cell surface expression1
  • Phosphorylated predominantly on Ser residues1
  • Ubiquitination2 at Lys413
  • Glycosylation2 at Asn131, Asn171
  • Modification sites at PhosphoSitePlus

  • See STIM1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001264890.1  NP_001264891.1  NP_003147.2  

    ENSEMBL proteins: 
     ENSP00000432210   ENSP00000300737   ENSP00000436208   ENSP00000434848   ENSP00000433949  
     ENSP00000431878   ENSP00000434200   ENSP00000431191   ENSP00000432378   ENSP00000432383  
     ENSP00000434767   ENSP00000433266  
    Reactome Protein details: Q13586

    STIM1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for STIM1
    OriGene Protein Over-expression Lysate for STIM1
    OriGene MassSpec for STIM1
    OriGene Custom Protein Services for STIM1
    GenScript Custom Purified and Recombinant Proteins Services for STIM1
    Novus Biologicals STIM1 Proteins
    Novus Biologicals STIM1 Lysates
    Sino Biological Recombinant Protein for STIM1
    Sino Biological Cell Lysate for STIM1
    ProSpec Recombinant Protein for STIM1
    Cloud-Clone Corp. Proteins for STIM1

     
    Search eBioscience for Proteins for STIM1 

    STIM1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of STIM1
    R&D Systems Antibodies for STIM1
    Cell Signaling Technology (CST) Antibodies for STIM1 
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    Novus Biologicals STIM1 Antibodies
    Abcam antibodies for STIM1
    Cloud-Clone Corp. Antibodies for STIM1
    ThermoFisher Antibody for STIM1
    LSBio Antibodies in human, mouse, rat for STIM1

    STIM1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for STIM1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for STIM1
    Cloud-Clone Corp. CLIAs for STIM1
    Search eBioscience for ELISAs for STIM1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SAMD: Sterile alpha motif (SAM) domain containing

    3 InterPro protein domains:
     IPR013761 SAM/pointed
     IPR001660 SAM
     IPR011510 SAM_2

    Graphical View of Domain Structure for InterPro Entry Q13586

    ProtoNet protein and cluster: Q13586

    1 Blocks protein domain: IPB001660 Sterile alpha motif SAM

    UniProtKB/Swiss-Prot: STIM1_HUMAN, Q13586
    Domain: The microtubule tip localization signal (MtLS) motif; mediates interaction with MAPRE1 and targeting to
    the growing microtubule plus ends
    Domain: The STIM1 Orai1-activating region/CRAC-activating domain (SOAR/CAD) mediates interaction with ORAI1 to
    activate the channel
    Similarity: Contains 1 EF-hand domain
    Similarity: Contains 1 SAM (sterile alpha motif) domain


    Find genes that share domains with STIM1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: STIM1_HUMAN, Q13586
    Function: Plays a role in mediating store-operated Ca(2+) entry (SOCE), a Ca(2+) influx following depletion of
    intracellular Ca(2+) stores. Acts as Ca(2+) sensor in the endoplasmic reticulum via its EF-hand domain. Upon
    Ca(2+) depletion, translocates from the endoplasmic reticulum to the plasma membrane where it activates the
    Ca(2+) release-activated Ca(2+) (CRAC) channel subunit, TMEM142A/ORAI1

         Genatlas biochemistry entry for STIM1:
    stromal interaction molecule 1,highly expressed in skeletal muscle,inhibiting rhabdomyosarcoma and rhabdoid tumor
    development,would be different from SCTZ104

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005246calcium channel regulator activity IEA--
    GO:0005509calcium ion binding IDA16005298
    GO:0005515protein binding IPI11463338
    GO:0015279store-operated calcium channel activity IEA--
    GO:0042802identical protein binding IPI19249086
         
    Find genes that share ontologies with STIM1           About GenesLikeMe


    Phenotypes:
         12 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Stim1):
     cardiovascular system  cellular  growth/size/body  hematopoietic system  homeostasis/metabolism 
     immune system  integument  mortality/aging  nervous system  respiratory system 
     skeleton  vision/eye 

    Find genes that share phenotypes with STIM1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for STIM1: Stim1tm1.1Kuro Stim1tm1.1Rao

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for STIM1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for STIM1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for STIM1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for STIM1

    miRNA
    Products:
        
    miRTarBase miRNAs that target STIM1:
    hsa-mir-155-5p (MIRT020653), hsa-mir-17-3p (MIRT050790), hsa-let-7b-5p (MIRT032252), hsa-mir-769-3p (MIRT039069)

    Block miRNA regulation of human, mouse, rat STIM1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate STIM1 (see all 50):
    hsa-miR-15a hsa-miR-218-1* hsa-let-7a-2* hsa-miR-486-3p hsa-miR-223 hsa-miR-1184 hsa-miR-424 hsa-miR-155*
    SwitchGear 3'UTR luciferase reporter plasmidSTIM1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for STIM1
    Predesigned siRNA for gene silencing in human, mouse, rat STIM1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for STIM1

    Clone
    Products:
         
    OriGene clones in human, mouse for STIM1 (see all 7)
    OriGene ORF clones in mouse, rat for STIM1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: STIM1 (NM_003156)
    Sino Biological Human cDNA Clone for STIM1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for STIM1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat STIM1
    Addgene plasmids for STIM1 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for STIM1
    Browse ESI BIO Cell Lines and PureStem Progenitors for STIM1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for STIM1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    STIM1_HUMAN, Q13586: Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane;
    Single-pass type I membrane protein. Cytoplasm, cytoskeleton. Note=Translocates from the endoplasmic reticulum to
    the cell membrane in response to a depletion of intracellular calcium. Associated with the microtubule network at
    the growing distal tip of microtubules
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    endoplasmic reticulum5
    plasma membrane5
    cytosol1
    extracellular1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum IDA--
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0005874microtubule IEA--
    GO:0005886plasma membrane ----
    GO:0005887integral component of plasma membrane IDA16208375

    Find genes that share ontologies with STIM1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for STIM1 About   (see all 8)  
    See pathways by source

    SuperPathContained pathways About
    1Platelet homeostasis
    Platelet homeostasis
    Platelet calcium homeostasis0.00
    Elevation of cytosolic Ca2+ levels0.00
    2TCR signaling in naive CD4+ T cells
    TCR signaling in naive CD8+ T cells0.64
    TCR signaling in naive CD4+ T cells0.64
    3Downstream Signaling Events Of B Cell Receptor (BCR)
    Signaling by the B Cell Receptor (BCR)0.79
    4Antigen Activates B Cell Receptor Leading to Generation of Second Messengers
    Antigen Activates B Cell Receptor Leading to Generation of Second Messengers0.47
    5Hemostasis
    Hemostasis0.43


    Find genes that share SuperPaths with STIM1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for STIM1
        Ca, cAMP and Lipid Signaling

    2 BioSystems Pathways for STIM1
        TCR signaling in naive CD4+ T cells
    TCR signaling in naive CD8+ T cells


    2 Reactome Pathways for STIM1
        Antigen activates B Cell Receptor (BCR) leading to generation of second messengers
    Elevation of cytosolic Ca2+ levels


    1 Kegg Pathway  (Kegg details for STIM1):
        Calcium signaling pathway

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for STIM1
    Interactions:

        GeneGlobe Interaction Network for STIM1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    Selected Interacting proteins for STIM1 (Q135861, 2, 3 ENSP000003007374) via UniProtKB, MINT, STRING, and/or I2D (see all 19)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ORAI1Q96D311, 2, 3, ENSP000003282164EBI-448878,EBI-2291476 MINT-8186918 I2D: score=2 STRING: ENSP00000328216
    PDIA3P301011, 2EBI-448878,EBI-979862 MINT-8303523 MINT-8303574 MINT-8303549
    STIM2Q9P2461, 3, ENSP000004048124EBI-448878,EBI-448891 I2D: score=2 STRING: ENSP00000404812
    STIM1Q135861, 2EBI-448878,EBI-448878 MINT-8186937
    MAPRE1Q156913, ENSP000003647214I2D: score=1 STRING: ENSP00000364721
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002115store-operated calcium entry IEA--
    GO:0005513detection of calcium ion IDA16005298
    GO:0006812cation transport ----
    GO:0006816calcium ion transport ----
    GO:0007596blood coagulation TAS--

    Find genes that share ontologies with STIM1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for STIM1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    SKF 96365 hydrochlorideTRPC channel blocker; also inhibits store-operated Ca2+ entry[130495-35-1]

    1 HMDB Compound for STIM1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    1 Novoseek inferred chemical compound relationship for STIM1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcium 40.1 35 19433064 (6), 19765994 (5), 17158173 (4), 17283081 (4) (see all 6)



    Find genes that share compounds with STIM1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for STIM1 gene (3 alternative transcripts): 
    NM_001277961.1  NM_001277962.1  NM_003156.3  

    Unigene Cluster for STIM1:

    Stromal interaction molecule 1
    Hs.501735  [show with all ESTs]
    Unigene Representative Sequence: AK098480
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000525403 ENST00000300737(uc001lyv.2 uc009yef.2 uc021qco.1 uc009yeg.2)
    ENST00000527651 ENST00000532610 ENST00000532919 ENST00000530554 ENST00000524822
    ENST00000525055 ENST00000528656 ENST00000532990 ENST00000526771 ENST00000527484
    ENST00000533445 ENST00000533977 ENST00000526596 ENST00000533343 ENST00000531332
    ENST00000526156
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate STIM1 (see all 50):
    hsa-miR-15a hsa-miR-218-1* hsa-let-7a-2* hsa-miR-486-3p hsa-miR-223 hsa-miR-1184 hsa-miR-424 hsa-miR-155*
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    GenScript: all cDNA clones in your preferred vector: STIM1 (NM_003156)
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    Addgene plasmids for STIM1 
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat STIM1
      QuantiTect SYBR Green Assays in human, mouse, rat STIM1
      QuantiFast Probe-based Assays in human, mouse, rat STIM1

    Additional mRNA sequence: 

    AK098480.1 AK310510.1 AK314928.1 BC021300.2 HQ317451.1 U52426.1 

    14 DOTS entries:

    DT.452685  DT.95348658  DT.100778602  DT.91659921  DT.100027863  DT.120700283  DT.100771298  DT.95093752 
    DT.97825540  DT.100692013  DT.120700357  DT.91698159  DT.100000386  DT.120700268 

    Selected AceView cDNA sequences (see all 232):

    CA389593 BQ222013 BQ961786 BI024710 CK000574 BF850829 BQ224617 AI620105 
    BM823714 AA625594 CK430342 AW169247 AA777220 BQ022907 BQ438922 BC021300 
    BM127091 CA389521 BG009917 AI383417 BG152905 AI431613 BE858124 BQ068737 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    STIM1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAGGAGATTT
    STIM1 Expression
    About this image


    STIM1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 12) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)
             Oviduct
     
     Peripheral Nervous System (Nervous System)
             Schwann Precursor Cells Peripheral Nerve Domain
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Gonad (Reproductive System)
             Testis Somatic Cells Primitive Gonad
    STIM1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    STIM1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.501735

    UniProtKB/Swiss-Prot: STIM1_HUMAN, Q13586
    Tissue specificity: Ubiquitously expressed in various human primary cells and tumor cell lines

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for STIM1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Stim11 , 5 stromal interaction molecule 11, 5 91.92(n)1
    96.79(a)1
      7 (54.71 cM)5
    208661  NM_009287.41  NP_033313.21 
     1022678245 
    chicken
    (Gallus gallus)
    Aves STIM11 stromal interaction molecule 1 77.07(n)
    80.46(a)
      419082  NM_001030838.1  NP_001026009.1 
    lizard
    (Anolis carolinensis)
    Reptilia STIM16
    stromal interaction molecule 1
    71(a)
    1 ↔ 1
    GL343693.1(4388-101039)
    African clawed frog
    (Xenopus laevis)
    Amphibia BU899888.12   -- 78.96(n)    BU899888.1 
    zebrafish
    (Danio rerio)
    Actinopterygii CD605508.12   -- 80.64(n)    CD605508.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Stim1 , 3 cell adhesion3
    Stromal interaction molecule1
    41(a)3
    51.84(n)1
    43.37(a)1
      325561  NM_078633.31  NP_523357.21 
    worm
    (Caenorhabditis elegans)
    Secernentea stim-11 stim-1 43.79(n)
    33.83(a)
      175201  NM_171065.4  NP_741073.1 


    ENSEMBL Gene Tree for STIM1 (if available)
    TreeFam Gene Tree for STIM1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for STIM1 gene
    STIM22  
    1 SIMAP similar gene for STIM1 using alignment to 14 protein entries:     STIM1_HUMAN (see all proteins):
    STIM2

    Find genes that share paralogs with STIM1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for STIM1 (see all 4911)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0698924
    Myopathy, tubular aggregate (TAM)4--see VAR_0698922 H Q mis40--------
    VAR_0698964
    Immunodeficiency 10 (IMD10)4--see VAR_0698962 R C mis40--------
    VAR_0698934
    Myopathy, tubular aggregate (TAM)4--see VAR_0698932 D G mis40--------
    VAR_0698954
    Myopathy, tubular aggregate (TAM)4--see VAR_0698952 H R mis40--------
    VAR_0698944
    Myopathy, tubular aggregate (TAM)4--see VAR_0698942 H N mis40--------
    rs348253331,2
    C--3623110(+) CTGACAA/-GAGCA 3 -- int11Minor allele frequency- -:0.50CSA 2
    rs1127725031,2
    C--3630643(+) GTCTC-/A/AA  
            
    AAAAA
    3 -- int11CSA 2
    rs1427005201,2
    C--3631053(+) AGGGT-/TAAG  
            
    TAAGA
    3 -- int10--------
    rs2020208731,2
    --3637911(+) TTGTT-/TGTTTTT 3 -- int10--------
    rs778162601,2
    --3637912(+) TGTTTG/TTTTTT 3 -- int11Minor allele frequency- T:0.50NA 2

    HapMap Linkage Disequilibrium report for STIM1 (3875757 - 4114440 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for STIM1 (see all 14):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2677671CNV Deletion23128226
    esv2672740CNV Deletion23128226
    esv2586241CNV Deletion19546169
    esv1017833CNV Deletion17803354
    esv2151404CNV Deletion18987734
    esv2744048CNV Deletion23290073
    nsv896895CNV Loss21882294
    nsv896894CNV Loss21882294
    nsv522040CNV Loss19592680
    nsv896896CNV Gain21882294

    Human Gene Mutation Database (HGMD): STIM1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing STIM1
    DNA2.0 Custom Variant and Variant Library Synthesis for STIM1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605921   
    OMIM disorders: 612783  160565  
    UniProtKB/Swiss-Prot: STIM1_HUMAN, Q13586
  • Immunodeficiency 10 (IMD10) [MIM:612783]: An immune disorder characterized by recurrent infections,
    impaired activation and proliferative response of T-cells, decreased T-cell production of cytokines,
    lymphadenopathy, and normal lymphocytes counts and serum immunoglobulin levels. Additional features include
    thrombocytopenia, autoimmune hemolytic anemia, myopathy, partial iris hypoplasia, hepatosplenomegaly and
    defective enamel dentition. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Myopathy, tubular aggregate (TAM) [MIM:160565]: A rare congenital myopathy characterized by regular
    arrays of membrane tubules on muscle biopsies without additional histopathological hallmarks. Tubular aggregates
    in muscle are structures of variable appearance consisting of an outer tubule containing either one or more
    microtubule-like structures or amorphous material. They may occur in a variety of circumstances, including
    inherited myopathies, alcohol- and drug-induced myopathies, exercise-induced cramps or muscle weakness. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 11 diseases for STIM1:    
    About MalaCards
    myopathy, tubular aggregate, 1    stormorken syndrome    tubular aggregate myopathy    immunodeficiency 10
    leukocoria    classic kaposi sarcoma    kaposi's sarcoma    rhabdomyosarcoma
    beckwith-wiedemann syndrome    wilms tumor    breast cancer


    Find genes that share disorders with STIM1           About GenesLikeMe

    3 Novoseek inferred disease relationships for STIM1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    rhabdoid tumor 65.6 9 9377559 (5), 10575208 (1)
    rhabdomyosarcoma 54.6 13 9377559 (7), 10575208 (1), 11004585 (1)
    tumors 0 16 10575208 (3), 9377559 (2)

    Genetic Association Database (GAD): STIM1
    Human Genome Epidemiology (HuGE) Navigator: STIM1 (1 document)

    Export disorders for STIM1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for STIM1 gene, integrated from 10 sources (see all 225):
    (articles sorted by number of sources associating them with STIM1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of a novel human gene (D11S4896E) at chromosomal region 11p15.5. (PubMed id 8921403)1, 2, 3, 9 Parker N.J.... Fox R.M. (Genomics 1996)
    2. Stromal interaction molecule 1 (STIM1), a transmembrane protein with growth suppressor activity, contains an extracellular SAM domain modified by N-linked glycosylation. (PubMed id 11983428)1, 2, 3 Williams R.T.... Dziadek M.A. (Biochim. Biophys. Acta 2002)
    3. Identification and characterization of the STIM (stromal interaction molecule) gene family: coding for a novel class of transmembrane proteins. (PubMed id 11463338)1, 2, 3 Williams R.T.... Dziadek M.A. (Biochem. J. 2001)
    4. GOK: a gene at 11p15 involved in rhabdomyosarcoma and rhabdoid tumor development. (PubMed id 9377559)1, 2, 9 Sabbioni S.... Negrini M. (Cancer Res. 1997)
    5. STIM1: a novel phosphoprotein located at the cell surface. (PubMed id 11004585)1, 2, 9 Manji S.S.... Smith P.J. (Biochim. Biophys. Acta 2000)
    6. Orai1 and STIM reconstitute store-operated calcium channel function. (PubMed id 16766533)1, 2, 9 Soboloff J....Gill D.L. (J. Biol. Chem. 2006)
    7. Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy. (PubMed id 23332920)1, 2 BAPhm J....Laporte J. (Am. J. Hum. Genet. 2013)
    8. Junctate is a Ca2+-sensing structural component of Orai1 and stromal interaction molecule 1 (STIM1). (PubMed id 22586105)1, 2 Srikanth S.... Gwack Y. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    9. Structural and mechanistic insights into the activation of Stromal interaction molecule 1 (STIM1). (PubMed id 22451904)1, 2 Yang X.... Shen Y. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    10. STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity. (PubMed id 19420366)1, 2 Picard C.... Feske S. (N. Engl. J. Med. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 6786 HGNC: 11386 AceView: STIM1 Ensembl:ENSG00000167323 euGenes: HUgn6786
    ECgene: STIM1 Kegg: 6786 H-InvDB: STIM1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for STIM1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for STIM1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for STIM1 gene:
    Search GeneIP for patents involving STIM1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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