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Aliases for STIM1 Gene

Aliases for STIM1 Gene

  • Stromal Interaction Molecule 1 2 3
  • IMD10 3 6
  • TAM 3 6
  • GOK 3 4
  • D11S4896E 3
  • STRMK 3
  • TAM1 3

External Ids for STIM1 Gene

Previous GeneCards Identifiers for STIM1 Gene

  • GC11P004429
  • GC11P004142
  • GC11P003836
  • GC11P003841
  • GC11P003833
  • GC11P003876
  • GC11P003610
  • GC11P003878
  • GC11P003880
  • GC11P003882

Summaries for STIM1 Gene

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 immunodeficiency 10 and myopathy, tubular aggregate, 1. Among its related pathways are Downstream Signaling Events Of B Cell Receptor (BCR) and Class I MHC mediated antigen processing and presentation. GO annotations related to this gene include calcium ion binding and microtubule plus-end binding. An important paralog of this gene is STIM2.

UniProtKB/Swiss-Prot for STIM1 Gene

  • 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.

Tocris 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

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for STIM1 Gene

Genomics for STIM1 Gene

Regulatory Elements for STIM1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for STIM1 Gene

Start:
3,854,527 bp from pter
End:
4,093,210 bp from pter
Size:
238,684 bases
Orientation:
Plus strand

Genomic View for STIM1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for STIM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for STIM1 Gene

Proteins for STIM1 Gene

  • Protein details for STIM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13586-STIM1_HUMAN
    Recommended name:
    Stromal interaction molecule 1
    Protein Accession:
    Q13586
    Secondary Accessions:
    • E9PQJ4
    • Q8N382

    Protein attributes for STIM1 Gene

    Size:
    685 amino acids
    Molecular mass:
    77423 Da
    Quaternary structure:
    • Forms homooligomers and heterooligomers with STIM2. Interacts with ORAI1. Interacts with MAPRE1; probably required for targeting to the growing microtubule plus ends. Interacts with CRACR2A/EFCAB4B; the interaction is direct and takes place in absence of Ca(2+). Forms a complex with CRACR2A/EFCAB4B and ORAI1 at low concentration of Ca(2+), the complex dissociates at elevated Ca(2+) concentrations. Interacts with SARAF, promoting a slow inactivation of STIM1-dependent SOCE activity, possibly by facilitating the deoligomerization of STIM1. Interacts with ASPH (isoform 8). Interacts with SLC35G1; intracellular Ca(2+)-dependent. May interact with ATP1A1, ATP2A2, ATP2B1, ATP2B4, KPNB1 and XPO1; through SLC35G1.
    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

    Three dimensional structures from OCA and Proteopedia for STIM1 Gene

    Alternative splice isoforms for STIM1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for STIM1 Gene

Proteomics data for STIM1 Gene at MOPED

Post-translational modifications for STIM1 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for STIM1 (STIM1)

No data available for DME Specific Peptides for STIM1 Gene

Domains for STIM1 Gene

Gene Families for STIM1 Gene

HGNC:
  • SAMD :Sterile alpha motif (SAM) domain containing

Protein Domains for STIM1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for STIM1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q13586

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.
  • The STIM1 Orai1-activating region/CRAC-activating domain (SOAR/CAD) mediates interaction with ORAI1 to activate the channel.
  • Contains 1 EF-hand domain.
  • Contains 1 SAM (sterile alpha motif) domain.
genes like me logo Genes that share domains with STIM1: view

Function for STIM1 Gene

Molecular function for STIM1 Gene

GENATLAS Biochemistry: stromal interaction molecule 1,highly expressed in skeletal muscle,inhibiting rhabdomyosarcoma and rhabdoid tumor development,would be different from SCTZ104
UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for STIM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005246 calcium channel regulator activity IEA --
GO:0005509 calcium ion binding IDA 16005298
GO:0005515 protein binding IPI 11463338
GO:0015279 store-operated calcium channel activity --
GO:0042802 identical protein binding IPI 19249086
genes like me logo Genes that share ontologies with STIM1: view
genes like me logo Genes that share phenotypes with STIM1: view

Animal Models for STIM1 Gene

MGI Knock Outs for STIM1:

Animal Model Products

CRISPR Products

miRNA for STIM1 Gene

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for STIM1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for STIM1 Gene

Localization for STIM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for STIM1 Gene

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 and is detected at punctae corresponding to junctions between the endoplasmic reticulum and the cell membrane. Associated with the microtubule network at the growing distal tip of microtubules.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for STIM1 Gene COMPARTMENTS Subcellular localization image for STIM1 gene
Compartment Confidence
cytoskeleton 5
endoplasmic reticulum 5
plasma membrane 5
cytosol 1
extracellular 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for STIM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005874 microtubule IEA --
GO:0005886 plasma membrane --
GO:0005887 integral component of plasma membrane IDA 16208375
genes like me logo Genes that share ontologies with STIM1: view

Pathways for STIM1 Gene

genes like me logo Genes that share pathways with STIM1: view

Pathways by source for STIM1 Gene

Gene Ontology (GO) - Biological Process for STIM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002115 store-operated calcium entry --
GO:0005513 detection of calcium ion IDA 16005298
GO:0006812 cation transport --
GO:0006816 calcium ion transport IEA --
GO:0007596 blood coagulation TAS --
genes like me logo Genes that share ontologies with STIM1: view

Compounds for STIM1 Gene

(1) Tocris Compounds for STIM1 Gene

Compound Action Cas Number
SKF 96365 hydrochloride TRPC channel blocker; also inhibits store-operated Ca2+ entry [130495-35-1]

(1) HMDB Compounds for STIM1 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2

(1) Novoseek inferred chemical compound relationships for STIM1 Gene

Compound -log(P) Hits PubMed IDs
calcium 40.1 24
genes like me logo Genes that share compounds with STIM1: view

Transcripts for STIM1 Gene

Unigene Clusters for STIM1 Gene

Stromal interaction molecule 1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for STIM1

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for STIM1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for STIM1 Gene

No ASD Table

Relevant External Links for STIM1 Gene

GeneLoc Exon Structure for
STIM1
ECgene alternative splicing isoforms for
STIM1

Expression for STIM1 Gene

mRNA expression in normal human tissues for STIM1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for STIM1 Gene

SOURCE GeneReport for Unigene cluster for STIM1 Gene Hs.501735

mRNA Expression by UniProt/SwissProt for STIM1 Gene

Q13586-STIM1_HUMAN
Tissue specificity: Ubiquitously expressed in various human primary cells and tumor cell lines.
genes like me logo Genes that share expressions with STIM1: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for STIM1 Gene

Orthologs for STIM1 Gene

This gene was present in the common ancestor of animals.

Orthologs for STIM1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia STIM1 35
  • 99.79 (n)
  • 100 (a)
STIM1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia STIM1 35
  • 93.7 (n)
  • 97.66 (a)
STIM1 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia STIM1 35
  • 92.67 (n)
  • 94.31 (a)
STIM1 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Stim1 35
  • 91.92 (n)
  • 96.79 (a)
Stim1 16
Stim1 36
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia STIM1 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia STIM1 36
  • 72 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Stim1 35
  • 92.07 (n)
  • 96.93 (a)
chicken
(Gallus gallus)
Aves STIM1 35
  • 77.07 (n)
  • 80.46 (a)
STIM1 36
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia STIM1 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia stim1 35
  • 75.21 (n)
  • 77.87 (a)
zebrafish
(Danio rerio)
Actinopterygii stim1a 35
  • 68.67 (n)
  • 70.02 (a)
stim1a 36
  • 61 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000175 35
  • 53.14 (n)
  • 43.64 (a)
fruit fly
(Drosophila melanogaster)
Insecta Stim 35
  • 51.84 (n)
  • 43.37 (a)
Stim 36
  • 32 (a)
OneToMany
Stim 37
  • 41 (a)
worm
(Caenorhabditis elegans)
Secernentea stim-1 35
  • 43.79 (n)
  • 33.83 (a)
stim-1 36
  • 26 (a)
OneToMany
Species with no ortholog for STIM1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for STIM1 Gene

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

Paralogs for STIM1 Gene

Paralogs for STIM1 Gene

genes like me logo Genes that share paralogs with STIM1: view

Variants for STIM1 Gene

Sequence variations from dbSNP and Humsavar for STIM1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs17081 -- 3,966,600(+) TTGTC(A/G)AGATC intron-variant
rs714380 -- 4,038,423(-) ttttt(A/T)ttatt intron-variant
rs718937 -- 4,038,660(-) ACCCT(C/T)CCTCC intron-variant
rs720571 -- 3,980,098(-) ATAGA(A/C)AAAAC intron-variant
rs720572 -- 3,980,230(-) aacac(C/T)tagtt intron-variant

Structural Variations from Database of Genomic Variants (DGV) for STIM1 Gene

Variant ID Type Subtype PubMed ID
nsv896894 CNV Loss 21882294
esv2744048 CNV Deletion 23290073
esv2672740 CNV Deletion 23128226
esv275356 CNV Gain+Loss 21479260
esv1017833 CNV Deletion 17803354
nsv522040 CNV Loss 19592680
nsv896895 CNV Loss 21882294
esv2677671 CNV Deletion 23128226
esv2586241 CNV Deletion 19546169
esv2151404 CNV Deletion 18987734
nsv896896 CNV Gain 21882294
essv17026 CNV CNV 17122850
nsv428248 CNV Gain+Loss 18775914
nsv832053 CNV Gain 17160897

Relevant External Links for STIM1 Gene

HapMap Linkage Disequilibrium report
STIM1
Human Gene Mutation Database (HGMD)
STIM1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for STIM1 Gene

Disorders for STIM1 Gene

(2) OMIM Diseases for STIM1 Gene (605921)

UniProtKB/Swiss-Prot

STIM1_HUMAN
  • 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. {ECO:0000269 PubMed:19420366, ECO:0000269 PubMed:22190180}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Myopathy, tubular aggregate, 1 (TAM1) [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. {ECO:0000269 PubMed:23332920}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Amelogenesis imperfecta, hypomaturation type, 2A5 (AI2A5) [MIM:615887]: A defect of enamel formation. The disorder involves both primary and secondary dentitions. The teeth have a shiny agar jelly appearance and the enamel is softer than normal. Brown pigment is present in middle layers of enamel. {ECO:0000269 PubMed:24621671}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Stormorken syndrome (STRMK) [MIM:185070]: A rare autosomal dominant disease characterized by mild bleeding tendency, thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. {ECO:0000269 PubMed:24591628, ECO:0000269 PubMed:24619930}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) Novoseek inferred disease relationships for STIM1 Gene

Disease -log(P) Hits PubMed IDs
rhabdoid tumor 65.6 6
rhabdomyosarcoma 54.6 9
tumors 0 5

Relevant External Links for STIM1

Genetic Association Database (GAD)
STIM1
Human Genome Epidemiology (HuGE) Navigator
STIM1
genes like me logo Genes that share disorders with STIM1: view

Publications for STIM1 Gene

  1. Molecular cloning of a novel human gene (D11S4896E) at chromosomal region 11p15.5. (PMID: 8921403) Parker N.J. … Fox R.M. (Genomics 1996) 2 3 4 23
  2. GOK: a gene at 11p15 involved in rhabdomyosarcoma and rhabdoid tumor development. (PMID: 9377559) Sabbioni S. … Negrini M. (Cancer Res. 1997) 3 4 23
  3. STIM1: a novel phosphoprotein located at the cell surface. (PMID: 11004585) Manji S.S. … Smith P.J. (Biochim. Biophys. Acta 2000) 3 4 23
  4. Orai1 and STIM reconstitute store-operated calcium channel function. (PMID: 16766533) Soboloff J. … Gill D.L. (J. Biol. Chem. 2006) 3 4 23
  5. Identification and characterization of the STIM (stromal interaction molecule) gene family: coding for a novel class of transmembrane proteins. (PMID: 11463338) Williams R.T. … Dziadek M.A. (Biochem. J. 2001) 2 3 4

Products for STIM1 Gene

  • Addgene plasmids for STIM1

Sources for STIM1 Gene

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