Human Gene STIM1 (uc021qco.1) Description and Page Index
  Description: Homo sapiens stromal interaction molecule 1 (STIM1), transcript variant 1, mRNA.
RefSeq Summary (NM_001277961): 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].
Transcript (Including UTRs)
   Position: hg19 chr11:3,876,933-4,114,440 Size: 237,508 Total Exon Count: 12 Strand: +
Coding Region
   Position: hg19 chr11:3,877,501-4,113,028 Size: 235,528 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:3,876,933-4,114,440)mRNA (may differ from genome)Protein (791 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
H-INVHGNCLynxMGIOMIMPubMed
Stanford SOURCETreefamUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: G0XQ39_HUMAN
DESCRIPTION: SubName: Full=STIM1L;
SIMILARITY: Contains 1 SAM (sterile alpha motif) domain.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): STIM1
CDC HuGE Published Literature: STIM1
Positive Disease Associations: Apolipoproteins B , Cholesterol , Cholesterol, LDL
Related Studies:
  1. Apolipoproteins B
    Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics. [PubMed 17903299]
    Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.
  2. Cholesterol
    Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics. [PubMed 17903299]
    Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.
  3. Cholesterol, LDL
    Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics. [PubMed 17903299]
    Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: STIM1
Diseases sorted by gene-association score: myopathy, tubular aggregate, 1* (1689), immunodeficiency 10* (1678), stormorken syndrome* (1596), rhabdomyosarcoma (29), breast fibrosarcoma (16), myopathy (8), autoimmune hemolytic anemia (8), superficial mycosis (8), pityriasis versicolor (6), iris hypoplasia (6), breast sarcoma (6), rhabdoid cancer (5), autosomal dominant disease (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 26.21 RPKM in Esophagus - Mucosa
Total median expression: 788.99 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -274.80568-0.484 Picture PostScript Text
3' UTR -516.851412-0.366 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001660 - SAM
IPR013761 - SAM/pointed
IPR011510 - SAM_2

Pfam Domains:
PF07647 - SAM domain (Sterile alpha motif)
PF16533 - STIM1 Orai1-activating region

SCOP Domains:
47769 - SAM/Pointed domain

ModBase Predicted Comparative 3D Structure on G0XQ39
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005246 calcium channel regulator activity

Biological Process:
GO:0032237 activation of store-operated calcium channel activity
GO:0051924 regulation of calcium ion transport

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030176 integral component of endoplasmic reticulum membrane


-  Descriptions from all associated GenBank mRNAs
  U52426 - Homo sapiens GOK (STIM1) mRNA, complete cds.
HQ317451 - Homo sapiens STIM1L (STIM1) mRNA, complete cds, alternatively spliced.
BC021300 - Homo sapiens stromal interaction molecule 1, mRNA (cDNA clone MGC:29566 IMAGE:4899542), complete cds.
AK314928 - Homo sapiens cDNA, FLJ95837.
DQ895509 - Synthetic construct Homo sapiens clone IMAGE:100009969; FLH185097.01L; RZPDo839F03145D stromal interaction molecule 1 (STIM1) gene, encodes complete protein.
EU176341 - Synthetic construct Homo sapiens clone IMAGE:100006450; FLH185103.01X; RZPDo839G08251D stromal interaction molecule 1 (STIM1) gene, encodes complete protein.
JX014264 - Homo sapiens STIM1 (STIM1) mRNA, complete cds.
JD277738 - Sequence 258762 from Patent EP1572962.
JD195901 - Sequence 176925 from Patent EP1572962.
JD124947 - Sequence 105971 from Patent EP1572962.
JD392896 - Sequence 373920 from Patent EP1572962.
JD139903 - Sequence 120927 from Patent EP1572962.
JD079034 - Sequence 60058 from Patent EP1572962.
JD193335 - Sequence 174359 from Patent EP1572962.
JD261524 - Sequence 242548 from Patent EP1572962.
JD477833 - Sequence 458857 from Patent EP1572962.
HZ409492 - JP 2015528002-A/2089: CHIRAL CONTROL.
HZ459715 - WO 2015182781-A/418: Kit or device and method for detecting pancreatic cancer.
HZ460254 - WO 2015190542-A/260: Kit or device and method for detecting biliary tract cancer.
HZ462380 - WO 2015190591-A/535: Kit and method for detecting breast cancer.
HZ464542 - WO 2015194615-A/360: Kit or device and method for detecting hepatic cancer.
LG052826 - KR 1020150036642-A/2092: CHIRAL CONTROL.
LY481155 - KR 1020170010856-A/418: PANCREATIC CANCER DETECTION KIT, DEVICE, AND DETECTION METHOD.
LY495881 - KR 1020170015509-A/260: DETECTION KIT OR DEVICE AND DETECTION METHOD FOR BILIARY TRACT CANCER.
LY498443 - KR 1020170018411-A/360: LIVER CANCER DETECTION KIT OR DEVICE, AND DETECTION METHOD.
LY499383 - KR 1020170018412-A/535: BREAST CANCER DETECTION KIT OR DEVICE, AND METHOD FOR DETECTING BREAST CANCER.
LZ238809 - WO 2017171048-A/470: Kit, device and method for detecting early pancreatic cancer or precancerous lesion of pancreas.
MS869046 - Sequence 260 from Patent EP3156500.
MS880698 - Sequence 535 from Patent EP3156498.
FR772944 - Homo sapiens microRNA hsa-miR-4687-5p.
HZ481821 - JP 2015535430-A/2327: TERMINALLY MODIFIED RNA.
HZ791752 - JP 2016504050-A/3497: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.
JC514484 - Sequence 4737 from Patent WO2014113089.
LF161976 - JP 2016513950-A/2042: Oligomers with improved off-target profile.
LF632621 - WO 2016117582-A/50: miRNA biomarkers for mental disorders.
LQ072072 - Sequence 2396 from Patent EP2964234.
LQ724564 - Sequence 197 from Patent WO2018096084.
JD416342 - Sequence 397366 from Patent EP1572962.
HZ459757 - WO 2015182781-A/460: Kit or device and method for detecting pancreatic cancer.
HZ460410 - WO 2015190542-A/416: Kit or device and method for detecting biliary tract cancer.
HZ462686 - WO 2015190591-A/841: Kit and method for detecting breast cancer.
HZ464776 - WO 2015194615-A/594: Kit or device and method for detecting hepatic cancer.
LY481197 - KR 1020170010856-A/460: PANCREATIC CANCER DETECTION KIT, DEVICE, AND DETECTION METHOD.
LY496037 - KR 1020170015509-A/416: DETECTION KIT OR DEVICE AND DETECTION METHOD FOR BILIARY TRACT CANCER.
LY498677 - KR 1020170018411-A/594: LIVER CANCER DETECTION KIT OR DEVICE, AND DETECTION METHOD.
LY499689 - KR 1020170018412-A/841: BREAST CANCER DETECTION KIT OR DEVICE, AND METHOD FOR DETECTING BREAST CANCER.
LZ239100 - WO 2017171048-A/761: Kit, device and method for detecting early pancreatic cancer or precancerous lesion of pancreas.
MS869202 - Sequence 416 from Patent EP3156500.
MS881004 - Sequence 841 from Patent EP3156498.
FR772943 - Homo sapiens microRNA hsa-miR-4687-3p.
HZ459679 - WO 2015182781-A/382: Kit or device and method for detecting pancreatic cancer.
HZ460103 - WO 2015190542-A/109: Kit or device and method for detecting biliary tract cancer.
HZ462105 - WO 2015190591-A/260: Kit and method for detecting breast cancer.
HZ464324 - WO 2015194615-A/142: Kit or device and method for detecting hepatic cancer.
HZ481820 - JP 2015535430-A/2326: TERMINALLY MODIFIED RNA.
HZ791751 - JP 2016504050-A/3496: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.
JC514483 - Sequence 4736 from Patent WO2014113089.
LF161303 - JP 2016513950-A/1369: Oligomers with improved off-target profile.
LF632624 - WO 2016117582-A/53: miRNA biomarkers for mental disorders.
LP951625 - Sequence 131 from Patent WO2017157650.
LQ072071 - Sequence 2395 from Patent EP2964234.
LQ724841 - Sequence 474 from Patent WO2018096084.
LY481119 - KR 1020170010856-A/382: PANCREATIC CANCER DETECTION KIT, DEVICE, AND DETECTION METHOD.
LY495730 - KR 1020170015509-A/109: DETECTION KIT OR DEVICE AND DETECTION METHOD FOR BILIARY TRACT CANCER.
LY498225 - KR 1020170018411-A/142: LIVER CANCER DETECTION KIT OR DEVICE, AND DETECTION METHOD.
LY499108 - KR 1020170018412-A/260: BREAST CANCER DETECTION KIT OR DEVICE, AND METHOD FOR DETECTING BREAST CANCER.
LZ238549 - WO 2017171048-A/210: Kit, device and method for detecting early pancreatic cancer or precancerous lesion of pancreas.
MS868895 - Sequence 109 from Patent EP3156500.
MS880423 - Sequence 260 from Patent EP3156498.
JD199911 - Sequence 180935 from Patent EP1572962.
JD519088 - Sequence 500112 from Patent EP1572962.
JD057084 - Sequence 38108 from Patent EP1572962.
MA645573 - JP 2017113010-A/3497: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.
MA733457 - JP 2017140048-A/2327: TERMINALLY MODIFIED RNA.
MA645572 - JP 2017113010-A/3496: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.
MA733456 - JP 2017140048-A/2326: TERMINALLY MODIFIED RNA.
MA405777 - WO 2018155427-A/551: A probe with reduced false positive binding, a method to desing the probe, and the use thereof.
MA406139 - WO 2018155427-A/913: A probe with reduced false positive binding, a method to desing the probe, and the use thereof.
MP015183 - Sequence 386 from Patent WO2019016252.
MA806081 - WO 2018199275-A/341: Kit, device and method for detection of ovary tumor.
MA802626 - JP 2018183181-A/3497: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.
MA805803 - WO 2018199275-A/63: Kit, device and method for detection of ovary tumor.
MA806346 - WO 2018199275-A/606: Kit, device and method for detection of ovary tumor.
MA806347 - WO 2018199275-A/607: Kit, device and method for detection of ovary tumor.
MA806516 - WO 2018199275-A/776: Kit, device and method for detection of ovary tumor.
MA802625 - JP 2018183181-A/3496: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.
MA805969 - WO 2018199275-A/229: Kit, device and method for detection of ovary tumor.
MA822670 - WO 2019004436-A/483: Kit, device, and method for detection of lung cancer.
MA822335 - WO 2019004436-A/148: Kit, device, and method for detection of lung cancer.
MA822988 - WO 2019004436-A/801: Kit, device, and method for detection of lung cancer.
MA822986 - WO 2019004436-A/799: Kit, device, and method for detection of lung cancer.
MA822334 - WO 2019004436-A/147: Kit, device, and method for detection of lung cancer.
LY616573 - KR 1020180129785-A/470: KIT OR DEVICE FOR DETECTING EARLY STAGE PANCREATIC CANCER OR PANCREATIC CANCER PRECURSOR LESIONS AND DETECTION METHOD THEREFOR.
LY616864 - KR 1020180129785-A/761: KIT OR DEVICE FOR DETECTING EARLY STAGE PANCREATIC CANCER OR PANCREATIC CANCER PRECURSOR LESIONS AND DETECTION METHOD THEREFOR.
LY616313 - KR 1020180129785-A/210: KIT OR DEVICE FOR DETECTING EARLY STAGE PANCREATIC CANCER OR PANCREATIC CANCER PRECURSOR LESIONS AND DETECTION METHOD THEREFOR.
AK098480 - Homo sapiens cDNA FLJ25614 fis, clone STM01648.
AK310510 - Homo sapiens cDNA, FLJ17552.
JD103423 - Sequence 84447 from Patent EP1572962.
JD227362 - Sequence 208386 from Patent EP1572962.
JD393511 - Sequence 374535 from Patent EP1572962.
JD548229 - Sequence 529253 from Patent EP1572962.
JD159235 - Sequence 140259 from Patent EP1572962.
JD276834 - Sequence 257858 from Patent EP1572962.
JD526998 - Sequence 508022 from Patent EP1572962.
JD365110 - Sequence 346134 from Patent EP1572962.
JD537042 - Sequence 518066 from Patent EP1572962.
JD041072 - Sequence 22096 from Patent EP1572962.
JD111924 - Sequence 92948 from Patent EP1572962.
JD325029 - Sequence 306053 from Patent EP1572962.
JD559561 - Sequence 540585 from Patent EP1572962.
JD126796 - Sequence 107820 from Patent EP1572962.
JD131759 - Sequence 112783 from Patent EP1572962.
JD117592 - Sequence 98616 from Patent EP1572962.
JD152791 - Sequence 133815 from Patent EP1572962.
JD372208 - Sequence 353232 from Patent EP1572962.
JD165083 - Sequence 146107 from Patent EP1572962.
JD161928 - Sequence 142952 from Patent EP1572962.
JD150391 - Sequence 131415 from Patent EP1572962.
JD283894 - Sequence 264918 from Patent EP1572962.
JD291335 - Sequence 272359 from Patent EP1572962.
JD544780 - Sequence 525804 from Patent EP1572962.
JD324540 - Sequence 305564 from Patent EP1572962.
JD147590 - Sequence 128614 from Patent EP1572962.
JD342648 - Sequence 323672 from Patent EP1572962.
JD207156 - Sequence 188180 from Patent EP1572962.
JD240870 - Sequence 221894 from Patent EP1572962.
JD548037 - Sequence 529061 from Patent EP1572962.
JD361321 - Sequence 342345 from Patent EP1572962.
JD209441 - Sequence 190465 from Patent EP1572962.
JD400696 - Sequence 381720 from Patent EP1572962.
JD548904 - Sequence 529928 from Patent EP1572962.
JD381893 - Sequence 362917 from Patent EP1572962.
JD327534 - Sequence 308558 from Patent EP1572962.
JD252091 - Sequence 233115 from Patent EP1572962.
JD297875 - Sequence 278899 from Patent EP1572962.
JD426445 - Sequence 407469 from Patent EP1572962.
JD340407 - Sequence 321431 from Patent EP1572962.
JD230995 - Sequence 212019 from Patent EP1572962.
JD538727 - Sequence 519751 from Patent EP1572962.
JD246025 - Sequence 227049 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: G0XQ39, G0XQ39_HUMAN, NM_001277961, NP_001264890
UCSC ID: uc021qco.1
RefSeq Accession: NM_001277961
Protein: G0XQ39

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001277961.1
exon count: 12CDS single in 3' UTR: no RNA size: 4380
ORF size: 2376CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4922.00frame shift in genome: no % Coverage: 99.45
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.