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

    Gene ID: 6786, updated on 23-Jul-2017
    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]
    Orthologs
    Location:
    11p15.4
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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 peptidyl-prolyl cis-trans isomerase A pseudogene 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

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat modulates STIM1 expression in neuron cells PubMed

    Go to the HIV-1, Human Interaction Database

    • 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
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ25614, FLJ33037

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium channel regulator activity IDA
    Inferred from Direct Assay
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular calcium ion homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    detection of calcium ion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enamel mineralization 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 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 IDA
    Inferred from Direct Assay
    more info
     
    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
     
    sarcoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    stromal interaction molecule 1

    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 (4) summary
      cd09573
      Location:128201
      SAM_STIM1; SAM domain of STIM1 subfamily proteins
      smart00454
      Location:129193
      SAM; Sterile alpha motif
      pfam16533
      Location:344441
      SOAR; STIM1 Orai1-activating region
      cl21478
      Location:253336
      ATP-synt_B; ATP synthase B/B' CF(0)
    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 (4) summary
      cd09573
      Location:128201
      SAM_STIM1; SAM domain of STIM1 subfamily proteins
      smart00454
      Location:129193
      SAM; Sterile alpha motif
      pfam06273
      Location:271336
      eIF-4B; Plant specific eukaryotic initiation factor 4B
      pfam16533
      Location:344441
      SOAR; STIM1 Orai1-activating region
    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 (4) summary
      cd09573
      Location:128201
      SAM_STIM1; SAM domain of STIM1 subfamily proteins
      smart00454
      Location:129193
      SAM; Sterile alpha motif
      pfam06273
      Location:271336
      eIF-4B; Plant specific eukaryotic initiation factor 4B
      pfam16533
      Location:344441
      SOAR; STIM1 Orai1-activating region

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p7 Primary Assembly

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

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      3876404..4113905
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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