Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6786
Gene name Gene Name - the full gene name approved by the HGNC.
Stromal interaction molecule 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
STIM1
Synonyms (NCBI Gene) Gene synonyms aliases
D11S4896E, GOK, IMD10, STRMK, TAM, TAM1
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11p15.4
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs140080199 G>A Likely-benign, conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant, 3 prime UTR variant
rs141215990 C>T Likely-benign, conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant, missense variant
rs142239530 C>G,T Likely-pathogenic, uncertain-significance Coding sequence variant, missense variant, 3 prime UTR variant
rs201395930 C>A,T Likely-benign, conflicting-interpretations-of-pathogenicity Intron variant
rs397514671 C>T Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT020653 hsa-miR-155-5p Proteomics 18668040
MIRT032252 hsa-let-7b-5p Proteomics 18668040
MIRT050790 hsa-miR-17-3p CLASH 23622248
MIRT039069 hsa-miR-769-3p CLASH 23622248
MIRT482791 hsa-miR-6793-3p PAR-CLIP 23592263
Transcription factors
Transcription factor Regulation Reference
AR Unknown 21432868
EGR1 Activation 20123987
WT1 Repression 20123987
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0002020 Function Protease binding IPI 25384971
GO:0002115 Process Store-operated calcium entry IBA
GO:0002115 Process Store-operated calcium entry IDA 19182790, 28219928
GO:0005246 Function Calcium channel regulator activity IBA
GO:0005246 Function Calcium channel regulator activity IDA 25326555, 26322679
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605921 11386 ENSG00000167323
Protein
UniProt ID Q13586
Protein name Stromal interaction molecule 1
Protein function Acts as a Ca(2+) sensor that gates two major inward rectifying Ca(2+) channels at the plasma membrane: Ca(2+) release-activated Ca(2+) (CRAC) channels and arachidonate-regulated Ca(2+)-selective (ARC) channels (PubMed:15866891, PubMed:16005298,
PDB 2K60 , 2MAJ , 2MAK , 3TEQ , 4O9B , 6YEL
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07647 SAM_2 129 197 SAM domain (Sterile alpha motif) Domain
PF16533 SOAR 341 441 STIM1 Orai1-activating region Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed in various human primary cells and tumor cell lines. {ECO:0000269|PubMed:11004585, ECO:0000269|PubMed:11463338}.
Sequence
MDVCVRLALWLLWGLLLHQGQSLSHSHSEKATGTSSGANSEESTAAEFCRIDKPLCHSED
EKLSFEAVRNIHKLMDDDANGDVDVEESDEFLREDLNYHDPTVKHSTFHGEDKLISVEDL
WKAWKSSEVYNWTVDEVVQWLITYVELPQYEETFRKLQLSGHAMPRLAVTNTTMTGTVLK
MTDRSHRQKLQLKALDT
VLFGPPLLTRHNHLKDFMLVVSIVIGVGGCWFAYIQNRYSKEH
MKKMMKDLEGLHRAEQSLHDLQERLHKAQEEHRTVEVEKVHLEKKLRDEINLAKQEAQRL
KELREGTENERSRQKYAEEELEQVREALRKAEKELESHSSWYAPEALQKWLQLTHEVEVQ
YYNIKKQNAEKQLLVAKEGAEKIKKKRNTLFGTFHVAHSSSLDDVDHKILTAKQALSEVT
AALRERLHRWQQIEILCGFQI
VNNPGIHSLVAALNIDPSWMGSTRPNPAHFIMTDDVDDM
DEEIVSPLSMQSPSLQSSVRQRLTEPQHGLGSQRDLTHSDSESSLHMSDRQRVAPKPPQM
SRAADEALNAMTSNGSHRLIEGVHPGSLVEKLPDSPALAKKALLALNHGLDKAHSLMELS
PSAPPGGSPHLDSSRSHSPSSPDPDTPSPVGDSRALQASRNTRIPHLAGKKAVAEEDNGS
IGEETDSSPGRKKFPLKIFKKPLKK
Sequence length 685
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Calcium signaling pathway
Platelet activation
  Ion homeostasis
Antigen activates B Cell Receptor (BCR) leading to generation of second messengers
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Myopathy myopathy, tubular aggregate, 1 rs748277951, rs397514675, rs397514676, rs397514677, rs527236030 N/A
Severe combined immunodeficiency disease combined immunodeficiency due to stim1 deficiency rs1057519506, rs397515357, rs397515390, rs397514671 N/A
Stormorken Syndrome stormorken syndrome rs483352867, rs527236030 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Eosinophilia Eosinophilic esophagitis N/A N/A GWAS
migraine Migraine N/A N/A ClinVar
Systemic lupus erythematosus Systemic lupus erythematosus N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 26543234
Alzheimer Disease Associate 30088035, 36809524
Alzheimer Disease Inhibit 32916960
Anemia Hemolytic Autoimmune Associate 19420366
Aortic Aneurysm Abdominal Associate 27157464
Asthma Associate 35430405
Atherosclerosis Associate 25884983
Autoimmune Diseases Associate 19420366, 22190180, 35636153
Blood Platelet Disorders Associate 25577287, 29242293, 35636153
Breast Neoplasms Associate 20395295, 26919241, 29414804, 31506588, 37399784