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

    Gene ID: 6786, updated on 27-Nov-2024

    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; AllianceGenome:HGNC:11386
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See STIM1 in Genome Data Viewer
    Location:
    11p15.4
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (3854604..4093210)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (3919928..4158475)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (3875834..4114440)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902618 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:3841189-3841380 Neighboring gene post-GPI attachment to proteins 2 Neighboring gene uncharacterized LOC124902619 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4310 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3085 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3086 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3087 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3088 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4311 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:3876149-3877094 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4314 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4313 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4312 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4315 Neighboring gene Sharpr-MPRA regulatory region 4669 Neighboring gene ras homolog family member G Neighboring gene STIM1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4316 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3093 Neighboring gene microRNA 4687 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4317 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:3915212-3915428 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4318 Neighboring gene Sharpr-MPRA regulatory region 4967 Neighboring gene peptidylprolyl isomerase A pseudogene 40 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4319 Neighboring gene Sharpr-MPRA regulatory region 12872 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 Sharpr-MPRA regulatory region 1570 Neighboring gene Sharpr-MPRA regulatory region 9588 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4320 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4321 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Combined immunodeficiency due to STIM1 deficiency
    MedGen: C2748557 OMIM: 612783 GeneReviews: Not available
    not available
    Myopathy, tubular aggregate, 1
    MedGen: C4011726 OMIM: 160565 GeneReviews: Not available
    not available
    Stormorken syndrome
    MedGen: C1861451 OMIM: 185070 GeneReviews: Not available
    not available

    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 PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ25614, FLJ33037

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium channel regulator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables calcium channel regulator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables calcium channel regulator activity IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    enables calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables calcium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables microtubule plus-end binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protease binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cortical endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cortical endoplasmic reticulum TAS
    Traceable Author Statement
    more info
    PubMed 
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    located_in microtubule IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane raft IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in sarcoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    stromal interaction molecule 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001277961.3NP_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)
      AC015689, AC087441, AC090804
      Consensus CDS
      CCDS73247.1
      UniProtKB/TrEMBL
      A0A8V8TMG5, 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_001277962.2NP_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), also known as STIM1B (PMID:33730587) 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, STIM1B) 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, ENST00000527651.5
      Conserved Domains (3) summary
      cd09573
      Location:128201
      SAM_STIM1; SAM domain of STIM1 subfamily proteins
      COG1196
      Location:237434
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam16533
      Location:344441
      SOAR; STIM1 Orai1-activating region
    3. NM_001382566.1NP_001369495.1  stromal interaction molecule 1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC015689, AC087441, AC090587
      Consensus CDS
      CCDS91420.1
      UniProtKB/TrEMBL
      A0A8V8TMG5, A0A8V8TNW0
      Related
      ENSP00000514025.1, ENST00000698911.1
      Conserved Domains (3) summary
      cd09573
      Location:54127
      SAM_STIM1; SAM domain of STIM1 subfamily proteins
      COG1196
      Location:163360
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam16533
      Location:270367
      SOAR; STIM1 Orai1-activating region
    4. NM_001382567.1NP_001369496.1  stromal interaction molecule 1 isoform 5 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5), also known as STIM1A (PMID:34942054), contains an alternate exon and uses an alternate in-frame splice site, relative to variant 1. The resulting protein (isoform 5, STIM1A) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC015689, AC087441, AC090804
      Consensus CDS
      CCDS91417.1
      UniProtKB/TrEMBL
      H0YDB2, V5J3L2
      Related
      ENSP00000433266.2, ENST00000526596.2
      Conserved Domains (3) summary
      cd09573
      Location:128201
      SAM_STIM1; SAM domain of STIM1 subfamily proteins
      COG1196
      Location:237434
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam16533
      Location:344441
      SOAR; STIM1 Orai1-activating region
    5. NM_001382568.1NP_001369497.1  stromal interaction molecule 1 isoform 6 precursor

      Status: REVIEWED

      Source sequence(s)
      AC015689, AC087441, AC090804
      UniProtKB/TrEMBL
      V5J3L2
      Conserved Domains (3) summary
      cd09573
      Location:128201
      SAM_STIM1; SAM domain of STIM1 subfamily proteins
      COG1196
      Location:237441
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam16533
      Location:344448
      SOAR; STIM1 Orai1-activating region
    6. NM_001382569.1NP_001369498.1  stromal interaction molecule 1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC015689, AC087441, AC090804
      UniProtKB/TrEMBL
      V5J3L2
      Conserved Domains (3) summary
      cd09573
      Location:83156
      SAM_STIM1; SAM domain of STIM1 subfamily proteins
      COG1196
      Location:192389
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam16533
      Location:299396
      SOAR; STIM1 Orai1-activating region
    7. NM_001382570.1NP_001369499.1  stromal interaction molecule 1 isoform 8 precursor

      Status: REVIEWED

      Source sequence(s)
      AC015689, AC087441, AC090804
      UniProtKB/TrEMBL
      V5J3L2
      Conserved Domains (2) summary
      COG1196
      Location:161358
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam16533
      Location:268365
      SOAR; STIM1 Orai1-activating region
    8. NM_001382571.1NP_001369500.1  stromal interaction molecule 1 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC015689, AC087441, AC090804
      UniProtKB/TrEMBL
      E9PNJ4
      Conserved Domains (3) summary
      COG1196
      Location:77274
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam16533
      Location:184281
      SOAR; STIM1 Orai1-activating region
      cl15755
      Location:641
      SAM_superfamily; SAM (Sterile alpha motif )
    9. NM_001382572.1NP_001369501.1  stromal interaction molecule 1 isoform 10 precursor

      Status: REVIEWED

      Source sequence(s)
      AC015689, AC087441, AC090804
      Consensus CDS
      CCDS91416.1
      UniProtKB/TrEMBL
      A0A8V8TMF0
      Related
      ENSP00000514028.1, ENST00000698914.1
      Conserved Domains (2) summary
      cd09573
      Location:128201
      SAM_STIM1; SAM domain of STIM1 subfamily proteins
      COG1196
      Location:237323
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    10. NM_001382573.1NP_001369502.1  stromal interaction molecule 1 isoform 11

      Status: REVIEWED

      Source sequence(s)
      AC015689, AC087441, AC090587
      Conserved Domains (3) summary
      cd09573
      Location:54127
      SAM_STIM1; SAM domain of STIM1 subfamily proteins
      COG1196
      Location:163360
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam16533
      Location:270367
      SOAR; STIM1 Orai1-activating region
    11. NM_001382574.1NP_001369503.1  stromal interaction molecule 1 isoform 12

      Status: REVIEWED

      Source sequence(s)
      AC015689, AC087441, AC090587
      Conserved Domains (2) summary
      cd09573
      Location:54127
      SAM_STIM1; SAM domain of STIM1 subfamily proteins
      COG1196
      Location:163249
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    12. NM_001382575.1NP_001369504.1  stromal interaction molecule 1 isoform 13

      Status: REVIEWED

      Description
      Transcript Variant: This variant (13), as well as variants 14 and 15, encodes isoform 13.
      Source sequence(s)
      AC015689, AC087441, AC090587
      Consensus CDS
      CCDS91419.1
      UniProtKB/TrEMBL
      A0A8V8TP73, V5J3L2
      Conserved Domains (3) summary
      cd09573
      Location:54127
      SAM_STIM1; SAM domain of STIM1 subfamily proteins
      COG1196
      Location:163360
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam16533
      Location:270367
      SOAR; STIM1 Orai1-activating region
    13. NM_001382576.1NP_001369505.1  stromal interaction molecule 1 isoform 13

      Status: REVIEWED

      Description
      Transcript Variant: This variant (14), as well as variants 13 and 15, encodes isoform 13.
      Source sequence(s)
      AC015689, AC087441, AC090587
      Consensus CDS
      CCDS91419.1
      UniProtKB/TrEMBL
      A0A8V8TP73, V5J3L2
      Conserved Domains (3) summary
      cd09573
      Location:54127
      SAM_STIM1; SAM domain of STIM1 subfamily proteins
      COG1196
      Location:163360
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam16533
      Location:270367
      SOAR; STIM1 Orai1-activating region
    14. NM_001382577.1NP_001369506.1  stromal interaction molecule 1 isoform 13

      Status: REVIEWED

      Description
      Transcript Variant: This variant (15), as well as variants 13 and 14, encodes isoform 13.
      Source sequence(s)
      AC015689, AC087441, AC090587
      Consensus CDS
      CCDS91419.1
      UniProtKB/TrEMBL
      A0A8V8TP73, V5J3L2
      Related
      ENSP00000514027.1, ENST00000698913.1
      Conserved Domains (3) summary
      cd09573
      Location:54127
      SAM_STIM1; SAM domain of STIM1 subfamily proteins
      COG1196
      Location:163360
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam16533
      Location:270367
      SOAR; STIM1 Orai1-activating region
    15. NM_001382578.1NP_001369507.1  stromal interaction molecule 1 isoform 14

      Status: REVIEWED

      Description
      Transcript Variant: This variant (16), as well as variant 17, encodes isoform 14.
      Source sequence(s)
      AC015689, AC087441, AC090587
      Consensus CDS
      CCDS91418.1
      UniProtKB/TrEMBL
      E9PRZ7
      Related
      ENSP00000432210.2, ENST00000525403.6
      Conserved Domains (3) summary
      cd09573
      Location:54127
      SAM_STIM1; SAM domain of STIM1 subfamily proteins
      COG1196
      Location:163360
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam16533
      Location:270367
      SOAR; STIM1 Orai1-activating region
    16. NM_001382579.1NP_001369508.1  stromal interaction molecule 1 isoform 14

      Status: REVIEWED

      Description
      Transcript Variant: This variant (17), as well as variant 16, encodes isoform 14.
      Source sequence(s)
      AC015689, AC087441, AC090587
      Consensus CDS
      CCDS91418.1
      UniProtKB/TrEMBL
      E9PRZ7
      Related
      ENSP00000514026.1, ENST00000698912.1
      Conserved Domains (3) summary
      cd09573
      Location:54127
      SAM_STIM1; SAM domain of STIM1 subfamily proteins
      COG1196
      Location:163360
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam16533
      Location:270367
      SOAR; STIM1 Orai1-activating region
    17. NM_001382580.1NP_001369509.1  stromal interaction molecule 1 isoform 15

      Status: REVIEWED

      Source sequence(s)
      AC015689, AC087441, AC090587
      Conserved Domains (3) summary
      COG1196
      Location:74271
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam16533
      Location:181278
      SOAR; STIM1 Orai1-activating region
      cl15755
      Location:138
      SAM_superfamily; SAM (Sterile alpha motif )
    18. NM_001382581.1NP_001369510.1  stromal interaction molecule 1 isoform 16

      Status: REVIEWED

      Source sequence(s)
      AC015689, AC087441, AC090587
      Consensus CDS
      CCDS91421.1
      UniProtKB/TrEMBL
      A0A8V8TMG1, E9PNJ4
      Related
      ENSP00000514024.1, ENST00000698910.1
      Conserved Domains (3) summary
      COG1196
      Location:74271
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam16533
      Location:181278
      SOAR; STIM1 Orai1-activating region
      cl15755
      Location:138
      SAM_superfamily; SAM (Sterile alpha motif )
    19. NM_003156.4NP_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)
      AC015689, AC087441, AC090804
      Consensus CDS
      CCDS7749.1
      UniProtKB/Swiss-Prot
      E9PQJ4, Q13586, Q8N382
      UniProtKB/TrEMBL
      V5J3L2
      Related
      ENSP00000300737.4, ENST00000300737.8
      Conserved Domains (3) summary
      cd09573
      Location:128201
      SAM_STIM1; SAM domain of STIM1 subfamily proteins
      COG1196
      Location:237434
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam16533
      Location:344441
      SOAR; STIM1 Orai1-activating region

    RNA

    1. NR_168436.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC015689, AC087441, AC090804
    2. NR_168437.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC015689, AC087441, AC090804
      Related
      ENST00000698918.1
    3. NR_168438.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC015689, AC087441, AC090804
      Related
      ENST00000698919.1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      3854604..4093210
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      3919928..4158475
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)