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Aliases for STIM1 Gene

Aliases for STIM1 Gene

  • Stromal Interaction Molecule 1 2 3 3 5
  • GOK 3 4
  • D11S4896E 3
  • IMD10 3
  • STRMK 3
  • TAM1 3
  • TAM 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 Stormorken Syndrome and Myopathy, Tubular Aggregate, 1. Among its related pathways are Cardiac conduction and Platelet homeostasis. Gene Ontology (GO) annotations related to this gene include calcium ion binding and calcium channel regulator activity. 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 (PubMed:15866891, PubMed:16005298, PubMed:16208375, PubMed:16537481, PubMed:16733527, PubMed:16766533, PubMed:16807233, PubMed:18854159, PubMed:19249086, PubMed:22464749, PubMed:24069340, PubMed:24351972, PubMed:24591628, PubMed:26322679, PubMed:25326555, PubMed:28219928). 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 ORAI1 (PubMed:16208375, PubMed:16537481). Involved in enamel formation (PubMed:24621671). Activated following interaction with STIMATE, leading to promote STIM1 conformational switch (PubMed:26322679).

Tocris Summary for STIM1 Gene

  • STIM-Orai channels have recently been identified as the underlying molecular mechanism of store-operated calcium entry (SOCE). STIM (stromal interaction molecule) proteins are ER Ca2+ sensors. Orai proteins are STIM binding partners that form the channel pore.

Gene Wiki entry for STIM1 Gene

Additional gene information for STIM1 Gene

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

Genomics for STIM1 Gene

GeneHancer (GH) Regulatory Elements for STIM1 Gene

Promoters and enhancers for STIM1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J003852 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 659.5 +3.0 2993 9.9 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 STIM1 LOC105376527 MIR4687 ENSG00000206976 OSBPL5 TSSC2 TRIM68 RHOG RRM1 PPIAP40
GH11J003876 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 30.7 +24.5 24532 4.7 HDGF PKNOX1 FOXA2 ARNT ARID4B DMAP1 IRF4 YY1 JUNB REST STIM1 RHOG LOC105376527 ENSG00000229368 ENSG00000206976 RRM1 NUP98 OR52B4 CHRNA10 GC11P003867
GH11J003942 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 30.5 +92.5 92466 10.5 PKNOX1 FOXA2 IRF4 YY1 RUNX3 RXRA REST NFIL3 SMARCA4 GLIS1 STIM1 RRM1 ENSG00000206976 LOC105376527 ENSG00000229368 RHOG GC11P003932 ENSG00000255232
GH11J003901 Enhancer 1.4 Ensembl ENCODE dbSUPER 25.8 +49.9 49873 5.6 HDGF PKNOX1 FOXA2 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ETS1 YY1 STIM1 RRM1 ENSG00000229368 LOC105376527 PPIAP40 GC11P003897 GC11P003920
GH11J003958 Enhancer 1.2 Ensembl ENCODE dbSUPER 29.2 +104.8 104783 1.7 FOXA2 BATF IRF4 RAD21 THRB ZNF143 ZFP91 CREM IKZF2 RUNX3 ENSG00000255232 STIM1 RRM1 ENSG00000206976 LOC105376527 ENSG00000229368 RHOG GC11P003932
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around STIM1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the STIM1 gene promoter:
  • ATF-2
  • c-Jun
  • AP-1
  • SRF (504 AA)
  • SRF
  • NF-kappaB1
  • MRF-2
  • MAZR
  • FOXJ2 (long isoform)
  • FOXJ2

Genomic Locations for STIM1 Gene

Genomic Locations for STIM1 Gene
chr11:3,854,527-4,093,210
(GRCh38/hg38)
Size:
238,684 bases
Orientation:
Plus strand
chr11:3,875,757-4,114,440
(GRCh37/hg19)
Size:
238,684 bases
Orientation:
Plus strand

Genomic View for STIM1 Gene

Genes around STIM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
STIM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    • Monomer in the presence of Ca(2+); it oligomerizes in absence of Ca(2+) (PubMed:18854159). Forms homooligomers and heterooligomers with STIM2 (PubMed:11463338, PubMed:11983428, PubMed:18854159, PubMed:22451904, PubMed:24351972, PubMed:24069340). Interacts (via the transmembrane region and the SOAR/CAD domain) with SPPL3; the interaction promotes the binding of STIM1 to ORAI1 (PubMed:25384971). Interacts with ORAI1 (PubMed:17905723, PubMed:19249086, PubMed:27185316, PubMed:24351972, PubMed:28219928). Interacts with MAPRE1; probably required for targeting to the growing microtubule plus ends (PubMed:19632184). Interacts with CRACR2A/EFCAB4B; the interaction is direct and takes place in absence of Ca(2+) (PubMed:20418871). Forms a complex with CRACR2A/EFCAB4B and ORAI1 at low concentration of Ca(2+), the complex dissociates at elevated Ca(2+) concentrations (PubMed:20418871). Interacts with SARAF, promoting a slow inactivation of STIM1-dependent SOCE activity, possibly by facilitating the deoligomerization of STIM1 (PubMed:22464749). Interacts with ASPH (isoform 8) (PubMed:22586105). Interacts with SLC35G1; intracellular Ca(2+)-dependent. May interact with ATP1A1, ATP2A2, ATP2B1, ATP2B4, KPNB1 and XPO1; through SLC35G1 (PubMed:22084111). Interacts with TMEM203 (PubMed:25996873). Interacts with STIMATE, promoting STIM1 conformational switch (PubMed:26322679). Interacts with TMEM178A (By similarity). Interacts with CASQ1 (via C-terminal end and preferentially with the monomeric form); this interaction increases in response to a depletion of intracellular calcium, decreases both STIM1 aggregation and clustering, interaction of STIM1 with ORAI1 and store-operated Ca(2+) entry (SOCE) activity (PubMed:27185316).
    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

Post-translational modifications for STIM1 Gene

No data available for DME Specific Peptides for STIM1 Gene

Domains & Families for STIM1 Gene

Gene Families for STIM1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for STIM1 Gene

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 :
  • The microtubule tip localization signal (MtLS) motif; mediates interaction with MAPRE1 and targeting to the growing microtubule plus ends.
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.
genes like me logo Genes that share domains with STIM1: view

Function for STIM1 Gene

Molecular function for STIM1 Gene

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 (PubMed:15866891, PubMed:16005298, PubMed:16208375, PubMed:16537481, PubMed:16733527, PubMed:16766533, PubMed:16807233, PubMed:18854159, PubMed:19249086, PubMed:22464749, PubMed:24069340, PubMed:24351972, PubMed:24591628, PubMed:26322679, PubMed:25326555, PubMed:28219928). 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 ORAI1 (PubMed:16208375, PubMed:16537481). Involved in enamel formation (PubMed:24621671). Activated following interaction with STIMATE, leading to promote STIM1 conformational switch (PubMed:26322679).
GENATLAS Biochemistry:
stromal interaction molecule 1,highly expressed in skeletal muscle,inhibiting rhabdomyosarcoma and rhabdoid tumor development,would be different from SCTZ104

Phenotypes From GWAS Catalog for STIM1 Gene

Gene Ontology (GO) - Molecular Function for STIM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IPI 25384971
GO:0005246 calcium channel regulator activity IEA,IDA 25326555
GO:0005509 calcium ion binding IDA 16005298
GO:0005515 protein binding IEA,IPI 11463338
GO:0042802 identical protein binding IPI 17517596
genes like me logo Genes that share ontologies with STIM1: view
genes like me logo Genes that share phenotypes with STIM1: view

Human Phenotype Ontology for STIM1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for STIM1 Gene

MGI Knock Outs for STIM1:

Animal Model Products

  • Taconic Biosciences Mouse Models for STIM1

Clone Products

  • Addgene plasmids for STIM1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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. Sarcoplasmic reticulum. 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 (PubMed:19249086, PubMed:16005298, PubMed:16208375, PubMed:18854159). Associated with the microtubule network at the growing distal tip of microtubules (PubMed:19632184). Colocalizes with ORAI1 at the cell membrane (PubMed:27185316). Colocalizes preferentially with CASQ1 at endoplasmic reticulum in response to a depletion of intracellular calcium (PubMed:27185316). {ECO:0000269 PubMed:16005298, ECO:0000269 PubMed:16208375, ECO:0000269 PubMed:18854159, ECO:0000269 PubMed:19249086, ECO:0000269 PubMed:19632184, ECO:0000269 PubMed:27185316}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for STIM1 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 5
cytoskeleton 4
extracellular 2
mitochondrion 2
cytosol 2
peroxisome 1
nucleus 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for STIM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IDA 27185316
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005856 cytoskeleton IEA --
GO:0005874 microtubule IEA --
genes like me logo Genes that share ontologies with STIM1: view

Pathways & Interactions for STIM1 Gene

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

SIGNOR curated interactions for STIM1 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for STIM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002115 store-operated calcium entry IDA 28219928
GO:0005513 detection of calcium ion IDA 16005298
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport IEA --
GO:0006874 cellular calcium ion homeostasis IBA --
genes like me logo Genes that share ontologies with STIM1: view

Drugs & Compounds for STIM1 Gene

(5) Drugs for STIM1 Gene - From: HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0
2-APB Pharma Channel blocker, Potentiation, Activator, Antagonist, Pore Blocker, Gating inhibitor IP3 receptor antagonist. Also TRP channel modulator 0
ML 9 hydrochloride Pharma Myosin light chain kinase inhibitor 0
SKF 96365 hydrochloride Pharma SOCE inhibitor, TRPC channel blocker; also inhibits store-operated Ca2+ entry 0
YM 58483 Pharma Inhibitor of SOCE in non-excitable cells 0

(1) Additional Compounds for STIM1 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
5J 4
827001-82-1

(5) Tocris Compounds for STIM1 Gene

Compound Action Cas Number
2-APB IP3 receptor antagonist. Also TRP channel modulator 524-95-8
5J 4 CRAC channel blocker; anti-inflammatory 827001-82-1
ML 9 hydrochloride Myosin light chain kinase inhibitor 105637-50-1
SKF 96365 hydrochloride TRPC channel blocker; also inhibits store-operated Ca2+ entry 130495-35-1
YM 58483 Inhibitor of SOCE in non-excitable cells 223499-30-7
genes like me logo Genes that share compounds with STIM1: view

Transcripts for STIM1 Gene

mRNA/cDNA for STIM1 Gene

Unigene Clusters for STIM1 Gene

Stromal interaction molecule 1:
Representative Sequences:

Clone Products

  • Addgene plasmids for STIM1

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for STIM1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for STIM1 Gene

This gene is overexpressed in Nasal epithelium (12.5), Peripheral blood mononuclear cells (11.3), and Platelet (10.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for STIM1 Gene



Protein tissue co-expression partners for STIM1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of STIM1 Gene:

STIM1

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.

Evidence on tissue expression from TISSUES for STIM1 Gene

  • Blood(4.5)
  • Liver(4.5)
  • Pancreas(4.3)
  • Nervous system(3.7)
  • Muscle(3)
  • Heart(2.5)
  • Lung(2.2)
  • Bone marrow(2.1)
  • Kidney(2.1)
  • Lymph node(2.1)
  • Skin(2.1)
  • Stomach(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for STIM1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • ear
  • eye
  • face
  • forehead
  • head
  • larynx
  • neck
  • nose
  • skull
Thorax:
  • heart
Abdomen:
  • spleen
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shin
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • lymph node
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with STIM1: view

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 34 33
  • 99.79 (n)
OneToOne
cow
(Bos Taurus)
Mammalia STIM1 34 33
  • 93.7 (n)
OneToOne
dog
(Canis familiaris)
Mammalia STIM1 34 33
  • 92.67 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Stim1 33
  • 92.07 (n)
mouse
(Mus musculus)
Mammalia Stim1 16 34 33
  • 91.92 (n)
oppossum
(Monodelphis domestica)
Mammalia STIM1 34
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia STIM1 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves STIM1 34 33
  • 77.07 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia STIM1 34
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia stim1 33
  • 75.21 (n)
zebrafish
(Danio rerio)
Actinopterygii stim1a 34 33
  • 68.67 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000175 33
  • 53.14 (n)
fruit fly
(Drosophila melanogaster)
Insecta Stim 34 35 33
  • 51.84 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea stim-1 34 33
  • 43.79 (n)
OneToMany
Species where no ortholog for STIM1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for STIM1: view image

Paralogs for STIM1 Gene

Paralogs for STIM1 Gene

(1) SIMAP similar genes for STIM1 Gene using alignment to 14 proteins:

  • STIM1_HUMAN
  • E9PIQ8_HUMAN
  • E9PJ19_HUMAN
  • E9PMB4_HUMAN
  • E9PN27_HUMAN
  • E9PNJ4_HUMAN
  • E9PQJ4_HUMAN
  • E9PR07_HUMAN
  • E9PR09_HUMAN
  • E9PRE4_HUMAN
  • E9PRZ7_HUMAN
  • G0XQ39_HUMAN
  • H0YDB2_HUMAN
  • V5J3L2_HUMAN
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 Variation AA Info Type
rs1027836784 likely-benign, Immune dysfunction with T-cell inactivation due to calcium entry defect 2, Myopathy with tubular aggregates, Stormorken syndrome 4,082,929(+) C/T coding_sequence_variant, synonymous_variant
rs1057519505 pathogenic, Immune dysfunction with T-cell inactivation due to calcium entry defect 2 4,083,300(+) C/T coding_sequence_variant, missense_variant
rs1057519506 pathogenic, Immune dysfunction with T-cell inactivation due to calcium entry defect 2 3,967,633(+) T/C coding_sequence_variant, missense_variant
rs116837894 benign, not specified, Immune dysfunction with T-cell inactivation due to calcium entry defect 2, Myopathy with tubular aggregates, Stormorken syndrome 4,083,326(+) G/A coding_sequence_variant, synonymous_variant
rs116855870 benign, Immune dysfunction with T-cell inactivation due to calcium entry defect 2, Myopathy with tubular aggregates, Stormorken syndrome 4,055,527(+) A/G coding_sequence_variant, synonymous_variant

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

Variant ID Type Subtype PubMed ID
dgv1019n100 CNV loss 25217958
dgv177e214 CNV loss 21293372
esv1017833 CNV deletion 17803354
esv2151404 CNV deletion 18987734
esv2586241 CNV deletion 19546169
esv2672740 CNV deletion 23128226
esv2677671 CNV deletion 23128226
esv2744048 CNV deletion 23290073
esv275356 CNV gain+loss 21479260
esv2759797 CNV gain+loss 17122850
esv3416038 CNV insertion 20981092
esv3547242 CNV deletion 23714750
esv3625157 CNV loss 21293372
esv3625161 CNV loss 21293372
esv3625162 CNV loss 21293372
esv3891911 CNV loss 25118596
nsv1043039 CNV loss 25217958
nsv428248 CNV gain+loss 18775914
nsv473078 CNV novel sequence insertion 20440878
nsv522040 CNV loss 19592680
nsv832053 CNV gain 17160897
nsv971972 CNV duplication 23825009
nsv971973 CNV duplication 23825009
nsv971974 CNV duplication 23825009

Variation tolerance for STIM1 Gene

Residual Variation Intolerance Score: 4.47% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.31; 53.33% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for STIM1 Gene

Human Gene Mutation Database (HGMD)
STIM1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
STIM1

SNP Genotyping and Copy Number Assay Products

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

Disorders for STIM1 Gene

MalaCards: The human disease database

(11) MalaCards diseases for STIM1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search STIM1 in MalaCards View complete list of genes associated with diseases

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, ECO:0000269 PubMed:24570283, ECO:0000269 PubMed:25326555, ECO:0000269 PubMed:25953320}. 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, ECO:0000269 PubMed:25577287}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for STIM1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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No data available for Genatlas for STIM1 Gene

Publications for STIM1 Gene

  1. Molecular cloning of a novel human gene (D11S4896E) at chromosomal region 11p15.5. (PMID: 8921403) Parker NJ … Fox RM (Genomics 1996) 2 3 4 22 58
  2. Orai1 and STIM reconstitute store-operated calcium channel function. (PMID: 16766533) Soboloff J … Gill DL (The Journal of biological chemistry 2006) 3 4 22 58
  3. Stromal interaction molecule 1 (STIM1), a transmembrane protein with growth suppressor activity, contains an extracellular SAM domain modified by N-linked glycosylation. (PMID: 11983428) Williams RT … Dziadek MA (Biochimica et biophysica acta 2002) 2 3 4 58
  4. Identification and characterization of the STIM (stromal interaction molecule) gene family: coding for a novel class of transmembrane proteins. (PMID: 11463338) Williams RT … Dziadek MA (The Biochemical journal 2001) 2 3 4 58
  5. STIM1: a novel phosphoprotein located at the cell surface. (PMID: 11004585) Manji SS … Smith PJ (Biochimica et biophysica acta 2000) 3 4 22 58

Products for STIM1 Gene

Sources for STIM1 Gene

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