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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

STIM1 Gene

protein-coding   GIFtS: 69
GCID: GC11P003882

stromal interaction molecule 1

 Explore 28 diseases affiliated with
STIM1 via our new
 Human Malady Compendium 
Biological research products
for STIM1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Stromal Interaction Molecule 11 2
GOK1 2 3
D11S4896E1 2
STIM1L2

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for STIM1:
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. 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.(provided by RefSeq, Jan 2009)

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:
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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_009237.18  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for STIM1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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)
Subcellular location: 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
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
2 PDB 3D structures from and Proteopedia for STIM1:
2K60 (3D)        3TEQ (3D)    
Secondary accessions: Q8N382

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

Post-translational modifications:

  • Glycosylation is required for cell surface expression1
  • Phosphorylated predominantly on Ser residues1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q13586

  • STIM1 Protein expression data from MOPED and PaxDb:    About this image 
    STIM1 Protein Expression
    REFSEQ proteins: NP_003147.2  
    ENSEMBL proteins: 
     ENSP00000432210   ENSP00000300737   ENSP00000436208   ENSP00000434848   ENSP00000433949  
     ENSP00000431878   ENSP00000434200   ENSP00000431191   ENSP00000432378   ENSP00000432383  
     ENSP00000434767   ENSP00000433266  
    Reactome Protein details: Q13586
    Human Recombinant Protein Products for STIM1: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Protein Over-expression Lysate: STIM1
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    Novus Biologicals STIM1 Proteins
    Novus Biologicals STIM1 Lysates
    Sino Biological Recombinant Protein for STIM1
    ProSpec Recombinant Protein for STIM1
    Uscn Proteins for STIM1

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum IDA--
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0005874microtubule IEA--
    GO:0005887integral to plasma membrane IDA16208375
    GO:0030176integral to endoplasmic reticulum membrane IDA--

    STIM1 for ontologies           About GeneDecksing



    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 
    OriGene Antibodies (see all 3): STIM1
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    Novus Biologicals STIM1 Antibodies
    Abcam antibodies for STIM1 
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    ThermoFisher Antibody for STIM1

    Assay Products for STIM1: 
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    Uscn ELISAs and CLIAs for STIM1


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    STIM1 for domains           About GeneDecksing

    3 InterPro domains/families:
     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 family: 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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    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): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IDA16005298
    GO:0005515protein binding IPI--
    GO:0042802identical protein binding IPI--
    GO:0051010microtubule plus-end binding IDA19632184
         
    STIM1 for ontologies           About GeneDecksing


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

    STIM1 for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-outs for STIM1: Stim1tm1.1Kuro Stim1tm1.1Rao
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for STIM1 

    miRNA
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    OriGene 3'-UTR Clone: STIM1
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat STIM1
    8/50 QIAGEN miScript miRNA 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:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for STIM1 (see all 7)
    OriGene shRNA RFP: STIM1
    OriGene siRNA: STIM1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat STIM1
    Sirion Biotech Custom design and validation of potent shRNA sequences against STIM1 

    Gene Editing
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    Clone
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    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
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat STIM1 

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    Sirion Biotech Customized inducible overexpressing cell line services for STIM1

    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for STIM1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/8 super-pathways (see all 8About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Platelet calcium homeostasis
    Platelet calcium homeostasis1.00
    Elevation of cytosolic Ca2+ levels0.47
    2TCR signaling in naive CD4+ T cells
    TCR signaling in naive CD4+ T cells1.00
    TCR signaling in naive CD8+ T cells0.64
    3Immune System
    Immune System1.00
    Adaptive Immune System0.59
    4Ca, cAMP and Lipid Signaling
    Ca, cAMP and Lipid Signaling1.00
    5Signaling by the B Cell Receptor (BCR)
    Signaling by the B Cell Receptor (BCR)1.00

    Pathway sources
    See GeneCards unified pathways
    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 CD8+ T cells
    TCR signaling in naive CD4+ T cells

    5/8        Reactome Pathways for STIM1 (see all 8)
        Hemostasis
    Platelet homeostasis
    Adaptive Immune System
    Elevation of cytosolic Ca2+ levels
    Signaling by the B Cell Receptor (BCR)



    STIM1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for STIM1

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

    5/19 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
    STIM2Q9P2461, 3, ENSP000004048124EBI-448878,EBI-448891 I2D: score=2 STRING: ENSP00000404812
    STIM1Q135861, 2EBI-448878,EBI-448878 MINT-8186937
    PDIA3P301012MINT-8303523 MINT-8303574 MINT-8303549
    MAPRE1Q156913, ENSP000003647214I2D: score=1 STRING: ENSP00000364721
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005513detection of calcium ion IDA16005298
    GO:0006812cation transport ----
    GO:0006816calcium ion transport IEA--
    GO:0007596blood coagulation TAS--
    GO:0032237activation of store-operated calcium channel activity IDA16005298

    STIM1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    STIM1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for STIM1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    2-APBIP3 receptor antagonist. Also TRP channel modulator[524-95-8]
    SKF 96365 hydrochlorideSTIM1-mediated Ca2+ influx inhibitor[130495-35-1]
    ML 9 hydrochlorideMyosin light chain kinase inhibitor[105637-50-1]

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

    Search CenterWatch for drugs/clinical trials and news about STIM1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for STIM1 gene: 
    NM_003156.3  

    Unigene Cluster for STIM1:

    Stromal interaction molecule 1
    Hs.501735  [show with all ESTs]
    Unigene Representative Sequence: AK098480
    18/19 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

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    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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    Additional cDNA 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 

    24/232 AceView cDNA sequences (see all 232):

    AA962482 AA911624 AA625594 BQ224617 AI620105 AI935048 CK906236 AL041188 
    AI383417 BQ022907 CF243011 AA777220 CD358069 BI024710 BM823714 CA389521 
    AI431613 AA157018 BQ222013 CK000574 CA450183 BE858124 BG152905 BQ961786 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    STIM1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TAGGAGATTT
    STIM1 Expression
    About this image

    STIM1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Reproductive SystemEarly GonadTestis Somatic CellsTestis
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See STIM1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for STIM1

    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

        SABiosciences Custom PCR Arrays for STIM1
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    In Situ
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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for STIM1 gene from 6/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves STIM11 stromal interaction molecule 1 77.39(n)
    80.43(a)
      419082  NM_001030838.1  NP_001026009.1 
    lizard
    (Anolis carolinensis)
    Reptilia STIM16
    --
    80(a)
    1 ↔ 1
    GL343693.1(58784-99341)
    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
    51.76(n)1
    43.35(a)1
      325561  NM_078633.31  NP_523357.21 
    worm
    (Caenorhabditis elegans)
    Secernentea stim-11 Protein STIM-1 43.7(n)
    33.83(a)
      175201  NM_171065.3  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)
    About This Section
    Paralogs for STIM1 gene
    STIM22  
    1 SIMAP similar gene for STIM1 using alignment to 13 protein entries:     STIM1_HUMAN (see all proteins):
    STIM2

    STIM1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/4095 NCBI SNPs in STIM1 are shown (see all 4095    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1128072061,2
    --3609181(+) AGGTGG/ACTGAG 1 -- us2k12Minor allele frequency- A:0.04CSA WA 120
    rs1133324751,2
    --3609592(+) GTAGCT/AGGGAG 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs38877071,2
    A,H--3609739(+) GGGTCG/TGGAAA 1 -- us2k14Minor allele frequency- T:0.00NS EA 414
    rs283625161,2
    --3610126(+) GGCCGA/GGCCGG 1 -- us2k12Minor allele frequency- G:0.00MN EA 1252
    rs618993931,2
    C,F--3610159(+) CAGCTC/TCTGGG 1 -- us2k13Minor allele frequency- T:0.10NA 124
    rs1179825461,2
    C--3611129(+) GGGCTC/TCTGGC 1 -- ut512Minor allele frequency- T:0.00NA EU 705
    rs2017946141,2
    C--3611187(+) AGACCG/TAGAGT 1 -- ut510--------
    rs1395406411,2
    C--3611298(+) ACCAGC/TTCGGG 2 S syn11Minor allele frequency- T:0.00NA 4552
    rs1500331891,2
    C,F--3611307(+) GGGGCC/GAACTC 2 A syn12Minor allele frequency- G:0.00NA EU 5873
    rs1996936181,2
    C,F--3611360(+) ACTGGG/ACTGGA 1 -- int11Minor allele frequency- A:0.00EU 1063

    HapMap Linkage Disequilibrium report for STIM1 (3875757 - 4114440 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for STIM1
         2 CNVs: 3834 101111
         1 Indel: 44887
    Human Gene Mutation Database (HGMD): STIM1

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    (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.)
    About This Section

    STIM1 for disorders           About GeneDecksing

    OMIM gene information: 605921   
    OMIM disorders: 612783  
    UniProtKB/Swiss-Prot: STIM1_HUMAN, Q13586
  • Defects in STIM1 are the cause of immune dysfunction with T-cell inactivation due to calcium entry defect type
  • 2 (IDTICED2) [MIM:612783]. IDTICED2 is an immune disorder characterized by recurrent infections, impaired T-cell
    activation and proliferative response, decreased T-cell production of cytokines, lymphadenopathy, and normal
    lymphocytes counts and serum immunoglobulin levels. Additional features include thrombocytopenia, autoimmune hemolytic
    anemia, non-progressive myopathy, partial iris hypoplasia, hepatosplenomegaly and defective enamel dentition

    20/28 diseases for STIM1 (see all 28):    About MalaCards
    immune dysfunction with t-cell inactivation due to calcium entry defect 2    lambert-eaton myasthenic syndrome    beckwith-wiedemann syndrome    rhabdomyosarcoma
    classic kaposi sarcoma    iris hypoplasia    type 2 diabetes mellitus    autoimmune hemolytic anemia
    hemolytic anemia    wilms tumor    rhabdoid tumors    kaposi's sarcoma
    breast cancer    diabetes mellitus    myasthenic syndrome    fibrosarcoma
    hematopoiesis    breast fibrosarcoma    carcinoma    anemia

    3 Novoseek 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)
    About This Section

    PubMed articles for STIM1 gene, integrated from 9 sources (see all 174):
    (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. (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. (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. (2001)
    4. GOK: a gene at 11p15 involved in rhabdomyosarcoma and rhabdoid tumor development. (PubMed id 9377559)1, 2, 9 Sabbioni S.... Negrini M. (1997)
    5. STIM1: a novel phosphoprotein located at the cell surface. (PubMed id 11004585)1, 2, 9 Manji S.S.... Smith P.J. (2000)
    6. Orai1 and STIM reconstitute store-operated calcium channel function. (PubMed id 16766533)1, 2, 9 Soboloff J....Gill D.L. (2006)
    7. Junctate is a Ca2+-sensing structural component of Ora i1 and stromal interaction molecule 1 (STIM1). (PubMed id 22586105)1, 2 Srikanth S....Gwack Y. (2012)
    8. Structural and mechanistic insights into the activatio n of Stromal interaction molecule 1 (STIM1). (PubMed id 22451904)1, 2 Yang X....Shen Y. (2012)
    9. STIM1 mutation associated with a syndrome of immunode ficiency and autoimmunity. (PubMed id 19420366)1, 2 Picard C....Feske S. (2009)
    10. An EB1-binding motif acts as a microtubule tip locali zation signal. (PubMed id 19632184)1, 2 Honnappa S....Steinmetz M.O. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 6786 HGNC: 11386 AceView: STIM1 Ensembl:ENSG00000167323 euGenes: HUgn6786
    ECgene: STIM1 H-InvDB: STIM1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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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    About This Section

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