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STIM1 stromal interaction molecule 1 [ Homo sapiens (human) ]

Gene ID: 6786, updated on 5-Aug-2018

Summary

Official Symbol
STIM1provided by HGNC
Official Full Name
stromal interaction molecule 1provided by HGNC
Primary source
HGNC:HGNC:11386
See related
Ensembl:ENSG00000167323 MIM:605921; Vega:OTTHUMG00000133360
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GOK; TAM; TAM1; IMD10; STRMK; D11S4896E
Summary
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]
Expression
Ubiquitous expression in thyroid (RPKM 23.4), esophagus (RPKM 23.1) and 25 other tissues See more
Orthologs

Genomic context

See STIM1 in Genome Data Viewer
Location:
11p15.4
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (3855703..4093210)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (3876933..4114440)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376527 Neighboring gene ras homolog family member G Neighboring gene microRNA 4687 Neighboring gene peptidylprolyl isomerase A pseudogene 40 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 76 Neighboring gene high mobility group nucleosome binding domain 1 pseudogene 21 Neighboring gene ribosomal protein S29 pseudogene 20 Neighboring gene ribonucleotide reductase catalytic subunit M1 Neighboring gene olfactory receptor family 55 subfamily B member 1 pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with STIM1; predicted interaction to be relevant to viral egress at plasma membrane/extracellular matrix PubMed
Tat tat HIV-1 Tat modulates STIM1 expression in neuron cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • Adaptive Immune System, organism-specific biosystem (from REACTOME)
    Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
  • Antigen activates B Cell Receptor (BCR) leading to generation of second messengers, organism-specific biosystem (from REACTOME)
    Antigen activates B Cell Receptor (BCR) leading to generation of second messengers, organism-specific biosystemMature B cells express IgM and IgD immunoglobulins which are complexed with Ig-alpha (CD79A, MB-1) and Ig-beta (CD79B, B29) to form the B cell receptor (BCR) (Fu et al. 1974, Fu et al. 1975, Kunkel e...
  • Calcium signaling pathway, organism-specific biosystem (from KEGG)
    Calcium signaling pathway, organism-specific biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
  • Calcium signaling pathway, conserved biosystem (from KEGG)
    Calcium signaling pathway, conserved biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
  • Cardiac conduction, organism-specific biosystem (from REACTOME)
    Cardiac conduction, organism-specific biosystemThe normal sequence of contraction of atria and ventricles of the heart require activation of groups of cardiac cells. The mechanism must elicit rapid changes in heart rate and respond to changes in ...
  • Elevation of cytosolic Ca2+ levels, organism-specific biosystem (from REACTOME)
    Elevation of cytosolic Ca2+ levels, organism-specific biosystemActivation of non- excitable cells involves the agonist-induced elevation of cytosolic Ca2+, an essential process for platelet activation. It occurs through Ca2+ release from intracellular stores and...
  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Ion homeostasis, organism-specific biosystem (from REACTOME)
    Ion homeostasis, organism-specific biosystemIon channel homeostasis in relation to cardiac conduction is described in this section (Couette et al. 2006, Bartos et al. 2015).
  • Muscle contraction, organism-specific biosystem (from REACTOME)
    Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
  • Platelet activation, organism-specific biosystem (from KEGG)
    Platelet activation, organism-specific biosystemPlatelets play a key and beneficial role for primary hemostasis on the disruption of the integrity of vessel wall. Platelet adhesion and activation at sites of vascular wall injury is initiated by ad...
  • Platelet calcium homeostasis, organism-specific biosystem (from REACTOME)
    Platelet calcium homeostasis, organism-specific biosystemCa2+ homeostasis is controlled by processes that elevate or counter the elevation of cytosolic Ca2+. During steady state conditions, cytoplasmic Ca2+ is reduced by the accumulation of Ca2+ in intrac...
  • Platelet homeostasis, organism-specific biosystem (from REACTOME)
    Platelet homeostasis, organism-specific biosystemUnder normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhesion and activation, suppresses coagulation, enhances fibrin cleavage and is anti-inflammatory in charact...
  • Signaling by the B Cell Receptor (BCR), organism-specific biosystem (from REACTOME)
    Signaling by the B Cell Receptor (BCR), organism-specific biosystemMature B cells express IgM and IgD immunoglobulins which are complexed at the plasma membrane with Ig-alpha (CD79A, MB-1) and Ig-beta (CD79B, B29) to form the B cell receptor (BCR) (Fu et al. 1974, F...
  • TCR signaling in naive CD4+ T cells, organism-specific biosystem (from Pathway Interaction Database)
    TCR signaling in naive CD4+ T cells, organism-specific biosystem
    TCR signaling in naive CD4+ T cells
  • TCR signaling in naive CD8+ T cells, organism-specific biosystem (from Pathway Interaction Database)
    TCR signaling in naive CD8+ T cells, organism-specific biosystem
    TCR signaling in naive CD8+ T cells

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ25614, FLJ33037

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium channel regulator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium channel regulator activity IDA
Inferred from Direct Assay
more info
PubMed 
calcium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
microtubule plus-end binding IDA
Inferred from Direct Assay
more info
PubMed 
protease binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
activation of store-operated calcium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
activation of store-operated calcium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
cellular calcium ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
detection of calcium ion IDA
Inferred from Direct Assay
more info
PubMed 
enamel mineralization IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of angiogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of calcium ion transport IDA
Inferred from Direct Assay
more info
PubMed 
regulation of cardiac conduction TAS
Traceable Author Statement
more info
 
regulation of store-operated calcium entry IMP
Inferred from Mutant Phenotype
more info
PubMed 
store-operated calcium entry IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
store-operated calcium entry IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cortical endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
cortical endoplasmic reticulum TAS
Traceable Author Statement
more info
PubMed 
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
microtubule IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
sarcoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
stromal interaction molecule 1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016277.1 RefSeqGene

    Range
    5001..242508
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_164

mRNA and Protein(s)

  1. NM_001277961.1NP_001264890.1  stromal interaction molecule 1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001264890.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1, also known as STIM1L) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC090804, HQ317451
    Consensus CDS
    CCDS73247.1
    UniProtKB/TrEMBL
    G0XQ39
    Related
    ENSP00000478059.1, ENST00000616714.4
    Conserved Domains (3) summary
    cd09573
    Location:128201
    SAM_STIM1; SAM domain of STIM1 subfamily proteins
    pfam16533
    Location:344441
    SOAR; STIM1 Orai1-activating region
    cl25732
    Location:237434
    SMC_N; RecF/RecN/SMC N terminal domain
  2. NM_001277962.1NP_001264891.1  stromal interaction molecule 1 isoform 3 precursor

    See identical proteins and their annotated locations for NP_001264891.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate exon and uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. The resulting protein (isoform 3) has a distinct C-terminus and is shorter, compared to isoform 1.
    Source sequence(s)
    AC090804, AK314928, HQ317451, U52426
    Consensus CDS
    CCDS60706.1
    UniProtKB/Swiss-Prot
    Q13586
    UniProtKB/TrEMBL
    G0XQ39
    Related
    ENSP00000436208.1, OTTHUMP00000229140, ENST00000527651.5, OTTHUMT00000383060
    Conserved Domains (3) summary
    cd09573
    Location:128201
    SAM_STIM1; SAM domain of STIM1 subfamily proteins
    pfam16533
    Location:344441
    SOAR; STIM1 Orai1-activating region
    cl25732
    Location:237434
    SMC_N; RecF/RecN/SMC N terminal domain
  3. NM_003156.3NP_003147.2  stromal interaction molecule 1 isoform 2 precursor

    See identical proteins and their annotated locations for NP_003147.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2, also known as STIM1S) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    BC021300, BI820627, BM127091, CX873095, U52426
    Consensus CDS
    CCDS7749.1
    UniProtKB/Swiss-Prot
    Q13586
    Related
    ENSP00000300737.4, OTTHUMP00000164512, ENST00000300737.8, OTTHUMT00000257196
    Conserved Domains (3) summary
    cd09573
    Location:128201
    SAM_STIM1; SAM domain of STIM1 subfamily proteins
    pfam16533
    Location:344441
    SOAR; STIM1 Orai1-activating region
    cl25732
    Location:237434
    SMC_N; RecF/RecN/SMC N terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    3855703..4093210
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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