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Protein

Stromal interaction molecule 1

Gene

STIM1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Plays a role in mediating store-operated Ca2+ entry (SOCE), a Ca2+ influx following depletion of intracellular Ca2+ 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). Acts as Ca2+ sensor in the endoplasmic reticulum via its EF-hand domain. Upon Ca2+ depletion, translocates from the endoplasmic reticulum to the plasma membrane where it activates the Ca2+ release-activated Ca2+ (CRAC) channel subunit ORAI1 (PubMed:16208375, PubMed:16537481). Involved in enamel formation (PubMed:24621671). Activated following interaction with TMEM110/STIMATE, leading to promote STIM1 conformational switch (PubMed:26322679).16 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Calcium bindingi76 – 87Add BLAST12

GO - Molecular functioni

  • calcium channel regulator activity Source: UniProtKB
  • calcium ion binding Source: UniProtKB
  • identical protein binding Source: IntAct
  • microtubule plus-end binding Source: UniProtKB
  • protease binding Source: UniProtKB

GO - Biological processi

  • activation of store-operated calcium channel activity Source: UniProtKB
  • cellular calcium ion homeostasis Source: GO_Central
  • detection of calcium ion Source: UniProtKB
  • enamel mineralization Source: UniProtKB
  • regulation of calcium ion transport Source: UniProtKB
  • regulation of cardiac conduction Source: Reactome
  • store-operated calcium entry Source: GO_Central
Complete GO annotation...

Keywords - Biological processi

Calcium transport, Ion transport, Transport

Keywords - Ligandi

Calcium, Metal-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000167323-MONOMER.
ReactomeiR-HSA-139853. Elevation of cytosolic Ca2+ levels.
R-HSA-5578775. Ion homeostasis.
R-HSA-983695. Antigen activates B Cell Receptor (BCR) leading to generation of second messengers.
SIGNORiQ13586.

Protein family/group databases

TCDBi1.A.52.1.1. the ca(2+) release-activated ca(2+) (crac) channel (crac-c) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Stromal interaction molecule 1
Gene namesi
Name:STIM1
Synonyms:GOK1 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:11386. STIM1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini23 – 213ExtracellularSequence analysisAdd BLAST191
Transmembranei214 – 234HelicalSequence analysisAdd BLAST21
Topological domaini235 – 685CytoplasmicSequence analysisAdd BLAST451

GO - Cellular componenti

  • cortical endoplasmic reticulum Source: UniProtKB
  • endoplasmic reticulum Source: HPA
  • endoplasmic reticulum membrane Source: Reactome
  • integral component of endoplasmic reticulum membrane Source: UniProtKB
  • integral component of plasma membrane Source: UniProtKB
  • microtubule Source: UniProtKB-KW
  • sarcoplasmic reticulum membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Cytoskeleton, Endoplasmic reticulum, Membrane, Microtubule, Sarcoplasmic reticulum

Pathology & Biotechi

Involvement in diseasei

Immunodeficiency 10 (IMD10)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:612783
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069896429R → C in IMD10. 1 PublicationCorresponds to variant rs397514671dbSNPEnsembl.1
Myopathy, tubular aggregate, 1 (TAM1)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:160565
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06989272H → Q in TAM1; myoblasts with the mutation have significantly increased clustering of STIM1, regardless of calcium levels, indicating that calcium sensing in the sarcoplasmic reticulum is impaired. 1 PublicationCorresponds to variant rs397515436dbSNPEnsembl.1
Natural variantiVAR_07561980N → T in TAM1; myoblasts with the mutation have significantly increased clustering of STIM1, regardless of calcium levels, indicating that calcium sensing in the sarcoplasmic reticulum is impaired. 1 PublicationCorresponds to variant rs748277951dbSNPEnsembl.1
Natural variantiVAR_07562081G → D in TAM1; increases store-operated Ca(2+) influx. 1 Publication1
Natural variantiVAR_06989384D → G in TAM1; myoblasts with the mutation have significantly increased clustering of STIM1, regardless of calcium levels, indicating that calcium sensing in the sarcoplasmic reticulum is impaired. 1 PublicationCorresponds to variant rs397514675dbSNPEnsembl.1
Natural variantiVAR_07562196L → V in TAM1; myoblasts with the mutation have significantly increased clustering of STIM1, regardless of calcium levels, indicating that calcium sensing in the sarcoplasmic reticulum is impaired. 1 Publication1
Natural variantiVAR_075622108F → I in TAM1; myoblasts with the mutation have significantly increased clustering of STIM1, regardless of calcium levels, indicating that calcium sensing in the sarcoplasmic reticulum is impaired. 1 Publication1
Natural variantiVAR_075623108F → L in TAM1; myoblasts with the mutation have significantly increased clustering of STIM1, regardless of calcium levels, indicating that calcium sensing in the sarcoplasmic reticulum is impaired. 1 Publication1
Natural variantiVAR_069894109H → N in TAM1; myoblasts with the mutation have significantly increased clustering of STIM1, regardless of calcium levels, indicating that calcium sensing in the sarcoplasmic reticulum is impaired. 2 PublicationsCorresponds to variant rs397514676dbSNPEnsembl.1
Natural variantiVAR_069895109H → R in TAM1; myoblasts with the mutation have significantly increased clustering of STIM1, regardless of calcium levels, indicating that calcium sensing in the sarcoplasmic reticulum is impaired. 2 PublicationsCorresponds to variant rs397514677dbSNPEnsembl.1
Natural variantiVAR_074037115I → F in STRMK and TAM1. 2 PublicationsCorresponds to variant rs527236030dbSNPEnsembl.1
Stormorken syndrome (STRMK)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare autosomal dominant disease characterized by mild bleeding tendency, thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis.
See also OMIM:185070
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_074037115I → F in STRMK and TAM1. 2 PublicationsCorresponds to variant rs527236030dbSNPEnsembl.1
Natural variantiVAR_071476304R → W in STRMK; autosomal dominant; promotes constitutive activation of the Ca(2+) release-activated Ca(2+) (CRAC) channel. 3 PublicationsCorresponds to variant rs483352867dbSNPEnsembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi76D → A or N: Increases Ca(2+) influx even when Ca(2+) stores are not depleted. Promotes constitutive activation of the Ca2+ release-activated Ca2+ (CRAC) channel. 4 Publications1
Mutagenesisi78D → N: Increases Ca(2+) influx even when Ca(2+) stores are not depleted. 1 Publication1
Mutagenesisi87E → A or Q: Increases Ca(2+) influx through activation of CRAC channels, even when Ca(2+) stores are not depleted. 3 Publications1
Mutagenesisi108F → D: Constitutive localization in punctae at the cell membrane and constitutive activation of CRAC channels; when associated with D-110. 1 Publication1
Mutagenesisi110G → D: Constitutive localization in punctae at the cell membrane and constitutive activation of CRAC channels; when associated with D-108. 1 Publication1
Mutagenesisi195L → R: Constitutive localization in punctae at the cell membrane and constitutive activation of CRAC channels. 1 Publication1
Mutagenesisi258L → G: Promotes constitutive activation of the Ca2+ release-activated Ca2+ (CRAC) channel. 1 Publication1
Mutagenesisi318 – 322EEELE → QQQLQ: Constitutive activation of CRAC channels. 1 Publication5
Mutagenesisi324V → P: Reduces activation of CRAC channels. 1 Publication1
Mutagenesisi347L → R: Abolishes colocalization with ORAI1 and activation of CRAC channels. 1 Publication1
Mutagenesisi351L → R: Abolishes colocalization with ORAI1 and activation of CRAC channels. 1 Publication1
Mutagenesisi361 – 362YY → KK: Abolishes activation of CRAC channels. 1 Publication2
Mutagenesisi380A → R: Constitutive activation of CRAC channels. 1 Publication1
Mutagenesisi382 – 386KIKKK → EIEEE: Abolishes activation of CRAC channels. 1 Publication5
Mutagenesisi383I → R: Abolishes activation of CRAC channels. 1
Mutagenesisi644 – 645IP → NN: Loss of interaction with MAPRE1 and association with the growing microtubule plus ends. 1 Publication2

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi6786.
MalaCardsiSTIM1.
MIMi160565. phenotype.
185070. phenotype.
612783. phenotype.
OpenTargetsiENSG00000167323.
Orphaneti317430. Combined immunodeficiency due to STIM1 deficiency.
3204. Stormorken-Sjaastad-Langslet syndrome.
2593. Tubular aggregate myopathy.
PharmGKBiPA36195.

Polymorphism and mutation databases

BioMutaiSTIM1.
DMDMi209572721.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 22Sequence analysisAdd BLAST22
ChainiPRO_000003332623 – 685Stromal interaction molecule 1Add BLAST663

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi131N-linked (GlcNAc...)1 Publication1
Glycosylationi171N-linked (GlcNAc...)4 Publications1
Modified residuei257PhosphoserineCombined sources1
Modified residuei504PhosphothreonineBy similarity1
Modified residuei512PhosphoserineCombined sources1
Modified residuei517PhosphothreonineCombined sources1
Modified residuei519PhosphoserineCombined sources1
Modified residuei521PhosphoserineCombined sources1
Modified residuei523PhosphoserineCombined sources1
Modified residuei524PhosphoserineBy similarity1
Modified residuei567PhosphoserineCombined sources1
Modified residuei575PhosphoserineCombined sources1
Modified residuei602PhosphoserineCombined sources1
Modified residuei608PhosphoserineCombined sources1
Modified residuei618PhosphoserineCombined sources1
Modified residuei621PhosphoserineCombined sources1
Modified residuei628PhosphoserineCombined sources1
Modified residuei660PhosphoserineCombined sources1
Modified residuei665PhosphothreonineCombined sources1
Modified residuei668PhosphoserineCombined sources1

Post-translational modificationi

Glycosylation is required for cell surface expression.5 Publications
Phosphorylated predominantly on Ser residues.1 Publication

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ13586.
MaxQBiQ13586.
PaxDbiQ13586.
PeptideAtlasiQ13586.
PRIDEiQ13586.

PTM databases

iPTMnetiQ13586.
PhosphoSitePlusiQ13586.

Expressioni

Tissue specificityi

Ubiquitously expressed in various human primary cells and tumor cell lines.2 Publications

Gene expression databases

BgeeiENSG00000167323.
CleanExiHS_STIM1.
ExpressionAtlasiQ13586. baseline and differential.
GenevisibleiQ13586. HS.

Organism-specific databases

HPAiCAB037128.
CAB037288.
HPA011088.
HPA012123.

Interactioni

Subunit structurei

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:24351972). 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 Ca2+ (PubMed:20418871). Forms a complex with CRACR2A/EFCAB4B and ORAI1 at low concentration of Ca2+, the complex dissociates at elevated Ca2+ 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 Ca2+-dependent. May interact with ATP1A1, ATP2A2, ATP2B1, ATP2B4, KPNB1 and XPO1; through SLC35G1 (PubMed:22084111). Interacts with TMEM203 (PubMed:25996873). Interacts with TMEM110/STIMATE, promoting STIM1 conformational switch (PubMed:26322679). Interacts with TMEM178A (By similarity).By similarity16 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
itself6EBI-448878,EBI-448878
CALMP621572EBI-448878,EBI-397403From a different organism.
CRACR2AQ9BSW23EBI-448878,EBI-739773
ORAI1Q96D3116EBI-448878,EBI-2291476
PDIA3P301013EBI-448878,EBI-979862
STIM2Q9P2464EBI-448878,EBI-448891

GO - Molecular functioni

  • identical protein binding Source: IntAct
  • microtubule plus-end binding Source: UniProtKB
  • protease binding Source: UniProtKB

Protein-protein interaction databases

BioGridi112662. 24 interactors.
DIPiDIP-31121N.
IntActiQ13586. 25 interactors.
STRINGi9606.ENSP00000300737.

Structurei

Secondary structure

1685
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi64 – 73Combined sources10
Beta strandi80 – 83Combined sources4
Turni85 – 90Combined sources6
Helixi91 – 95Combined sources5
Helixi102 – 108Combined sources7
Beta strandi110 – 112Combined sources3
Helixi117 – 126Combined sources10
Helixi128 – 131Combined sources4
Helixi134 – 145Combined sources12
Helixi150 – 157Combined sources8
Helixi163 – 167Combined sources5
Helixi171 – 174Combined sources4
Helixi183 – 199Combined sources17
Helixi249 – 271Combined sources23
Turni272 – 275Combined sources4
Helixi276 – 334Combined sources59
Helixi339 – 341Combined sources3
Helixi345 – 391Combined sources47
Helixi393 – 397Combined sources5
Helixi400 – 404Combined sources5
Helixi408 – 437Combined sources30

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2K60NMR-A58-201[»]
2MAJNMR-A/C312-387[»]
2MAKNMR-A/C312-387[»]
3TEQX-ray1.90A/B/C/D344-444[»]
4O9BX-ray2.60A/B/C/D237-340[»]
ProteinModelPortaliQ13586.
SMRiQ13586.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ13586.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini63 – 98EF-handAdd BLAST36
Domaini132 – 200SAMPROSITE-ProRule annotationAdd BLAST69

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni334 – 444SOAR/CADAdd BLAST111

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili248 – 4423 PublicationsAdd BLAST195

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi642 – 645Microtubule tip localization signal4

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi270 – 336Glu-richAdd BLAST67
Compositional biasi600 – 629Pro/Ser-richAdd BLAST30
Compositional biasi672 – 685Lys-richAdd BLAST14

Domaini

The microtubule tip localization signal (MtLS) motif; mediates interaction with MAPRE1 and targeting to the growing microtubule plus ends.1 Publication
The STIM1 Orai1-activating region/CRAC-activating domain (SOAR/CAD) mediates interaction with ORAI1 to activate the channel.1 Publication

Sequence similaritiesi

Contains 1 EF-hand domain.Curated
Contains 1 SAM (sterile alpha motif) domain.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4403. Eukaryota.
ENOG410XRM6. LUCA.
GeneTreeiENSGT00390000000214.
HOGENOMiHOG000261647.
HOVERGENiHBG054652.
InParanoidiQ13586.
KOiK16059.
PhylomeDBiQ13586.
TreeFamiTF313487.

Family and domain databases

CDDicd11722. SOAR. 1 hit.
Gene3Di1.10.150.50. 1 hit.
InterProiIPR001660. SAM.
IPR013761. SAM/pointed.
IPR032393. SOAR.
IPR030463. STM1.
[Graphical view]
PANTHERiPTHR15136:SF9. PTHR15136:SF9. 1 hit.
PfamiPF07647. SAM_2. 1 hit.
PF16533. SOAR. 1 hit.
[Graphical view]
SMARTiSM00454. SAM. 1 hit.
[Graphical view]
SUPFAMiSSF47769. SSF47769. 1 hit.
PROSITEiPS50105. SAM_DOMAIN. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q13586-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MDVCVRLALW LLWGLLLHQG QSLSHSHSEK ATGTSSGANS EESTAAEFCR
60 70 80 90 100
IDKPLCHSED EKLSFEAVRN IHKLMDDDAN GDVDVEESDE FLREDLNYHD
110 120 130 140 150
PTVKHSTFHG EDKLISVEDL WKAWKSSEVY NWTVDEVVQW LITYVELPQY
160 170 180 190 200
EETFRKLQLS GHAMPRLAVT NTTMTGTVLK MTDRSHRQKL QLKALDTVLF
210 220 230 240 250
GPPLLTRHNH LKDFMLVVSI VIGVGGCWFA YIQNRYSKEH MKKMMKDLEG
260 270 280 290 300
LHRAEQSLHD LQERLHKAQE EHRTVEVEKV HLEKKLRDEI NLAKQEAQRL
310 320 330 340 350
KELREGTENE RSRQKYAEEE LEQVREALRK AEKELESHSS WYAPEALQKW
360 370 380 390 400
LQLTHEVEVQ YYNIKKQNAE KQLLVAKEGA EKIKKKRNTL FGTFHVAHSS
410 420 430 440 450
SLDDVDHKIL TAKQALSEVT AALRERLHRW QQIEILCGFQ IVNNPGIHSL
460 470 480 490 500
VAALNIDPSW MGSTRPNPAH FIMTDDVDDM DEEIVSPLSM QSPSLQSSVR
510 520 530 540 550
QRLTEPQHGL GSQRDLTHSD SESSLHMSDR QRVAPKPPQM SRAADEALNA
560 570 580 590 600
MTSNGSHRLI EGVHPGSLVE KLPDSPALAK KALLALNHGL DKAHSLMELS
610 620 630 640 650
PSAPPGGSPH LDSSRSHSPS SPDPDTPSPV GDSRALQASR NTRIPHLAGK
660 670 680
KAVAEEDNGS IGEETDSSPG RKKFPLKIFK KPLKK
Length:685
Mass (Da):77,423
Last modified:October 14, 2008 - v3
Checksum:iFFB5E7CB3D68A7A6
GO
Isoform 2 (identifier: Q13586-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     515-540: DLTHSDSESSLHMSDRQRVAPKPPQM → GSSLKANRLSSKGFDPFRFGVLPPHE
     541-685: Missing.

Note: No experimental confirmation available.
Show »
Length:540
Mass (Da):62,133
Checksum:i2470E8D059BFF6FB
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti505E → G in AK314928 (PubMed:14702039).Curated1
Sequence conflicti556S → R in AAC51627 (PubMed:8921403).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06989272H → Q in TAM1; myoblasts with the mutation have significantly increased clustering of STIM1, regardless of calcium levels, indicating that calcium sensing in the sarcoplasmic reticulum is impaired. 1 PublicationCorresponds to variant rs397515436dbSNPEnsembl.1
Natural variantiVAR_07561980N → T in TAM1; myoblasts with the mutation have significantly increased clustering of STIM1, regardless of calcium levels, indicating that calcium sensing in the sarcoplasmic reticulum is impaired. 1 PublicationCorresponds to variant rs748277951dbSNPEnsembl.1
Natural variantiVAR_07562081G → D in TAM1; increases store-operated Ca(2+) influx. 1 Publication1
Natural variantiVAR_06989384D → G in TAM1; myoblasts with the mutation have significantly increased clustering of STIM1, regardless of calcium levels, indicating that calcium sensing in the sarcoplasmic reticulum is impaired. 1 PublicationCorresponds to variant rs397514675dbSNPEnsembl.1
Natural variantiVAR_07562196L → V in TAM1; myoblasts with the mutation have significantly increased clustering of STIM1, regardless of calcium levels, indicating that calcium sensing in the sarcoplasmic reticulum is impaired. 1 Publication1
Natural variantiVAR_075622108F → I in TAM1; myoblasts with the mutation have significantly increased clustering of STIM1, regardless of calcium levels, indicating that calcium sensing in the sarcoplasmic reticulum is impaired. 1 Publication1
Natural variantiVAR_075623108F → L in TAM1; myoblasts with the mutation have significantly increased clustering of STIM1, regardless of calcium levels, indicating that calcium sensing in the sarcoplasmic reticulum is impaired. 1 Publication1
Natural variantiVAR_069894109H → N in TAM1; myoblasts with the mutation have significantly increased clustering of STIM1, regardless of calcium levels, indicating that calcium sensing in the sarcoplasmic reticulum is impaired. 2 PublicationsCorresponds to variant rs397514676dbSNPEnsembl.1
Natural variantiVAR_069895109H → R in TAM1; myoblasts with the mutation have significantly increased clustering of STIM1, regardless of calcium levels, indicating that calcium sensing in the sarcoplasmic reticulum is impaired. 2 PublicationsCorresponds to variant rs397514677dbSNPEnsembl.1
Natural variantiVAR_074037115I → F in STRMK and TAM1. 2 PublicationsCorresponds to variant rs527236030dbSNPEnsembl.1
Natural variantiVAR_071476304R → W in STRMK; autosomal dominant; promotes constitutive activation of the Ca(2+) release-activated Ca(2+) (CRAC) channel. 3 PublicationsCorresponds to variant rs483352867dbSNPEnsembl.1
Natural variantiVAR_071477426R → C Probable disease-associated mutation found in a patient with autosomal recessive hypomaturation enamel malformations, nail dysplasia and frequent throat infections. 1 Publication1
Natural variantiVAR_069896429R → C in IMD10. 1 PublicationCorresponds to variant rs397514671dbSNPEnsembl.1
Natural variantiVAR_061878538P → S.Corresponds to variant rs35960304dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_055150515 – 540DLTHS…KPPQM → GSSLKANRLSSKGFDPFRFG VLPPHE in isoform 2. 1 PublicationAdd BLAST26
Alternative sequenceiVSP_055151541 – 685Missing in isoform 2. 1 PublicationAdd BLAST145

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U52426 mRNA. Translation: AAC51627.1.
AK314928 mRNA. No translation available.
AC015689 Genomic DNA. No translation available.
AC087441 Genomic DNA. No translation available.
AC090587 Genomic DNA. No translation available.
AC090804 Genomic DNA. No translation available.
AC107970 Genomic DNA. No translation available.
CH471158 Genomic DNA. Translation: EAX02581.1.
BC021300 mRNA. Translation: AAH21300.1.
CCDSiCCDS60706.1. [Q13586-2]
CCDS7749.1. [Q13586-1]
RefSeqiNP_001264891.1. NM_001277962.1. [Q13586-2]
NP_003147.2. NM_003156.3. [Q13586-1]
UniGeneiHs.501735.
Hs.657794.

Genome annotation databases

EnsembliENST00000300737; ENSP00000300737; ENSG00000167323. [Q13586-1]
ENST00000527651; ENSP00000436208; ENSG00000167323. [Q13586-2]
GeneIDi6786.
KEGGihsa:6786.
UCSCiuc001lyv.3. human. [Q13586-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U52426 mRNA. Translation: AAC51627.1.
AK314928 mRNA. No translation available.
AC015689 Genomic DNA. No translation available.
AC087441 Genomic DNA. No translation available.
AC090587 Genomic DNA. No translation available.
AC090804 Genomic DNA. No translation available.
AC107970 Genomic DNA. No translation available.
CH471158 Genomic DNA. Translation: EAX02581.1.
BC021300 mRNA. Translation: AAH21300.1.
CCDSiCCDS60706.1. [Q13586-2]
CCDS7749.1. [Q13586-1]
RefSeqiNP_001264891.1. NM_001277962.1. [Q13586-2]
NP_003147.2. NM_003156.3. [Q13586-1]
UniGeneiHs.501735.
Hs.657794.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2K60NMR-A58-201[»]
2MAJNMR-A/C312-387[»]
2MAKNMR-A/C312-387[»]
3TEQX-ray1.90A/B/C/D344-444[»]
4O9BX-ray2.60A/B/C/D237-340[»]
ProteinModelPortaliQ13586.
SMRiQ13586.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112662. 24 interactors.
DIPiDIP-31121N.
IntActiQ13586. 25 interactors.
STRINGi9606.ENSP00000300737.

Protein family/group databases

TCDBi1.A.52.1.1. the ca(2+) release-activated ca(2+) (crac) channel (crac-c) family.

PTM databases

iPTMnetiQ13586.
PhosphoSitePlusiQ13586.

Polymorphism and mutation databases

BioMutaiSTIM1.
DMDMi209572721.

Proteomic databases

EPDiQ13586.
MaxQBiQ13586.
PaxDbiQ13586.
PeptideAtlasiQ13586.
PRIDEiQ13586.

Protocols and materials databases

DNASUi6786.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000300737; ENSP00000300737; ENSG00000167323. [Q13586-1]
ENST00000527651; ENSP00000436208; ENSG00000167323. [Q13586-2]
GeneIDi6786.
KEGGihsa:6786.
UCSCiuc001lyv.3. human. [Q13586-1]

Organism-specific databases

CTDi6786.
DisGeNETi6786.
GeneCardsiSTIM1.
H-InvDBHIX0009379.
HGNCiHGNC:11386. STIM1.
HPAiCAB037128.
CAB037288.
HPA011088.
HPA012123.
MalaCardsiSTIM1.
MIMi160565. phenotype.
185070. phenotype.
605921. gene.
612783. phenotype.
neXtProtiNX_Q13586.
OpenTargetsiENSG00000167323.
Orphaneti317430. Combined immunodeficiency due to STIM1 deficiency.
3204. Stormorken-Sjaastad-Langslet syndrome.
2593. Tubular aggregate myopathy.
PharmGKBiPA36195.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4403. Eukaryota.
ENOG410XRM6. LUCA.
GeneTreeiENSGT00390000000214.
HOGENOMiHOG000261647.
HOVERGENiHBG054652.
InParanoidiQ13586.
KOiK16059.
PhylomeDBiQ13586.
TreeFamiTF313487.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000167323-MONOMER.
ReactomeiR-HSA-139853. Elevation of cytosolic Ca2+ levels.
R-HSA-5578775. Ion homeostasis.
R-HSA-983695. Antigen activates B Cell Receptor (BCR) leading to generation of second messengers.
SIGNORiQ13586.

Miscellaneous databases

ChiTaRSiSTIM1. human.
EvolutionaryTraceiQ13586.
GeneWikiiSTIM1.
GenomeRNAii6786.
PROiQ13586.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000167323.
CleanExiHS_STIM1.
ExpressionAtlasiQ13586. baseline and differential.
GenevisibleiQ13586. HS.

Family and domain databases

CDDicd11722. SOAR. 1 hit.
Gene3Di1.10.150.50. 1 hit.
InterProiIPR001660. SAM.
IPR013761. SAM/pointed.
IPR032393. SOAR.
IPR030463. STM1.
[Graphical view]
PANTHERiPTHR15136:SF9. PTHR15136:SF9. 1 hit.
PfamiPF07647. SAM_2. 1 hit.
PF16533. SOAR. 1 hit.
[Graphical view]
SMARTiSM00454. SAM. 1 hit.
[Graphical view]
SUPFAMiSSF47769. SSF47769. 1 hit.
PROSITEiPS50105. SAM_DOMAIN. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSTIM1_HUMAN
AccessioniPrimary (citable) accession number: Q13586
Secondary accession number(s): E9PQJ4, Q8N382
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 2, 2001
Last sequence update: October 14, 2008
Last modified: November 30, 2016
This is version 167 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

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.1 Publication

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.