• Gene id: 6786

Gene Summary

• Gene Symbol: STIM1   Gene   UCSC   Ensembl
• Aliases: D11S4896E, GOK, IMD10, STRMK, TAM, TAM1
• Gene name: stromal interaction molecule 1
• Alternate names: stromal interaction molecule 1,
• Gene location: 11p15.4 (3855663: 4093209)     Exons: 13     NC_000011.10
• Gene summary(Entrez): 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

Protein Summary

• Protein general information: Q13586  
  • Name: Stromal interaction molecule 1
  • Length: 685  
  • Mass: 77423
  • Tissue specificity: Ubiquitously expressed in various human primary cells and tumor cell lines. {ECO
• Sequence:

  MDVCVRLALWLLWGLLLHQGQSLSHSHSEKATGTSSGANSEESTAAEFCRIDKPLCHSEDEKLSFEAVRNIHKLM
  DDDANGDVDVEESDEFLREDLNYHDPTVKHSTFHGEDKLISVEDLWKAWKSSEVYNWTVDEVVQWLITYVELPQY
  EETFRKLQLSGHAMPRLAVTNTTMTGTVLKMTDRSHRQKLQLKALDTVLFGPPLLTRHNHLKDFMLVVSIVIGVG
  GCWFAYIQNRYSKEHMKKMMKDLEGLHRAEQSLHDLQERLHKAQEEHRTVEVEKVHLEKKLRDEINLAKQEAQRL
  KELREGTENERSRQKYAEEELEQVREALRKAEKELESHSSWYAPEALQKWLQLTHEVEVQYYNIKKQNAEKQLLV
  AKEGAEKIKKKRNTLFGTFHVAHSSSLDDVDHKILTAKQALSEVTAALRERLHRWQQIEILCGFQIVNNPGIHSL
  VAALNIDPSWMGSTRPNPAHFIMTDDVDDMDEEIVSPLSMQSPSLQSSVRQRLTEPQHGLGSQRDLTHSDSESSL
  HMSDRQRVAPKPPQMSRAADEALNAMTSNGSHRLIEGVHPGSLVEKLPDSPALAKKALLALNHGLDKAHSLMELS
  PSAPPGGSPHLDSSRSHSPSSPDPDTPSPVGDSRALQASRNTRIPHLAGKKAVAEEDNGSIGEETDSSPGRKKFP
  LKIFKKPLKK

• Structural information:
  • Protein Domains: (63..9-)
    (/note="EF-hand-)
    (132..20-)
    (/note="SAM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00184"-)
  • Interpro: IPR001660  IPR013761  IPR032393  IPR037608  IPR037609   IPR030463  
  • Prosite: PS50105
  • CDD: cd09573 cd11722
  • PDB: 2K60 2MAJ 2MAK 3TEQ 4O9B
  • PDBsum: 2K60 2MAJ 2MAK 3TEQ 4O9B
  • DIP: 31121
  • STRING: ENSP00000478059
• Other Databases: GeneCards:  STIM1  Malacards:  STIM1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0032237	activation of store-operated calcium channel activity	IBA	biological process
GO:0006874	cellular calcium ion homeostasis	IBA	biological process
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0005509	calcium ion binding	IBA	molecular function
GO:0005246	calcium channel regulator activity	IBA	molecular function
GO:0002115	store-operated calcium entry	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0030176	integral component of endoplasmic reticulum membrane	IDA	cellular component
GO:0005246	calcium channel regulator activity	IDA	molecular function
GO:0032237	activation of store-operated calcium channel activity	IDA	biological process
GO:0005246	calcium channel regulator activity	IDA	molecular function
GO:0051010	microtubule plus-end binding	IDA	molecular function
GO:0032541	cortical endoplasmic reticulum	IDA	cellular component
GO:0033017	sarcoplasmic reticulum membrane	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0002115	store-operated calcium entry	IDA	biological process
GO:0032237	activation of store-operated calcium channel activity	IDA	biological process
GO:0045762	positive regulation of adenylate cyclase activity	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0044853	plasma membrane raft	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0032541	cortical endoplasmic reticulum	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:2001256	regulation of store-operated calcium entry	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0070166	enamel mineralization	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0002020	protease binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005246	calcium channel regulator activity	IEA	molecular function
GO:0030176	integral component of endoplasmic reticulum membrane	IEA	cellular component
GO:0032237	activation of store-operated calcium channel activity	IEA	biological process
GO:0051924	regulation of calcium ion transport	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0006816	calcium ion transport	IEA	biological process
GO:0016529	sarcoplasmic reticulum	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005874	microtubule	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005246	calcium channel regulator activity	IGI	molecular function
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:1903779	regulation of cardiac conduction	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045766	positive regulation of angiogenesis	IMP	biological process
GO:0016529	sarcoplasmic reticulum	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0032237	activation of store-operated calcium channel activity	IDA	biological process
GO:0030176	integral component of endoplasmic reticulum membrane	IDA	cellular component
GO:0005513	detection of calcium ion	IDA	biological process
GO:0005509	calcium ion binding	IDA	molecular function
GO:0051924	regulation of calcium ion transport	IDA	biological process
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04020	Calcium signaling pathway
hsa04611	Platelet activation

Diseases

Associated diseases	References
Combined immunodeficiency	KEGG:H00093
Tubular aggregate myopathy	KEGG:H02258
Stormorken syndrome	KEGG:H02259
Combined immunodeficiency	KEGG:H00093
Tubular aggregate myopathy	KEGG:H02258
Stormorken syndrome	KEGG:H02259
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq