STIM1 - stromal interaction molecule 1 Gene

Also Known as GOK; TAM; TAM1; IMD10; STRMK; D11S4896E

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6786

About STIM1

Cytogenetic location: 11p15.4 Genomic coordinates (GRCh38): 11:3,854,604-4,093,210 (from NCBI)

This gene has 32 transcripts (splice variants), 271 orthologues, 1 paralogue and is associated with 7 phenotypes. Ubiquitous expression in thyroid (RPKM 23.4), esophagus (RPKM 23.1) and 25 other tissues.

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]

STIM1 Products (19)

mRNA	Protein	Name
NM_001277961.3	NP_001264890.1	stromal interaction molecule 1 isoform 1 precursor
NM_001277962.2	NP_001264891.1	stromal interaction molecule 1 isoform 3 precursor
NM_001382566.1	NP_001369495.1	stromal interaction molecule 1 isoform 4
NM_001382567.1	NP_001369496.1	stromal interaction molecule 1 isoform 5 precursor
NM_001382568.1	NP_001369497.1	stromal interaction molecule 1 isoform 6 precursor
NM_001382569.1	NP_001369498.1	stromal interaction molecule 1 isoform 7
NM_001382570.1	NP_001369499.1	stromal interaction molecule 1 isoform 8 precursor
NM_001382571.1	NP_001369500.1	stromal interaction molecule 1 isoform 9
NM_001382572.1	NP_001369501.1	stromal interaction molecule 1 isoform 10 precursor
NM_001382573.1	NP_001369502.1	stromal interaction molecule 1 isoform 11
NM_001382574.1	NP_001369503.1	stromal interaction molecule 1 isoform 12
NM_001382575.1	NP_001369504.1	stromal interaction molecule 1 isoform 13
NM_001382576.1	NP_001369505.1	stromal interaction molecule 1 isoform 13
NM_001382577.1	NP_001369506.1	stromal interaction molecule 1 isoform 13
NM_001382578.1	NP_001369507.1	stromal interaction molecule 1 isoform 14
NM_001382579.1	NP_001369508.1	stromal interaction molecule 1 isoform 14
NM_001382580.1	NP_001369509.1	stromal interaction molecule 1 isoform 15
NM_001382581.1	NP_001369510.1	stromal interaction molecule 1 isoform 16
NM_003156.4	NP_003147.2	stromal interaction molecule 1 isoform 2 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables calcium channel regulator activity	IDA IDA: Inferred from direct assay	25326555	GOA
enables calcium channel regulator activity	IGI IGI: Inferred from genetic interaction	31009446	GOA
enables calcium ion binding	IDA IDA: Inferred from direct assay	16005298	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	17517596	GOA
enables microtubule plus-end binding	IDA IDA: Inferred from direct assay	19632184	GOA
enables protease binding	IPI IPI: Inferred from physical interaction	25384971	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11463338	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in activation of store-operated calcium channel activity	IDA IDA: Inferred from direct assay	16005298	GOA
involved in detection of calcium ion	IDA IDA: Inferred from direct assay	16005298	GOA
involved in enamel mineralization	IMP IMP: Inferred from mutant phenotype	24621671	GOA
involved in positive regulation of adenylate cyclase activity	IDA IDA: Inferred from direct assay	19171672	GOA
involved in positive regulation of angiogenesis	IMP IMP: Inferred from mutant phenotype	26694763	GOA
involved in regulation of calcium ion transport	IDA IDA: Inferred from direct assay	16005298	GOA
involved in regulation of store-operated calcium entry	IMP IMP: Inferred from mutant phenotype	23332920	GOA
involved in store-operated calcium entry	IDA IDA: Inferred from direct assay	19182790	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cortical endoplasmic reticulum	IDA IDA: Inferred from direct assay	22586105	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	27185316	GOA
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	16208375	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	16208375	GOA
located in plasma membrane raft	IDA IDA: Inferred from direct assay	19171672	GOA
located in sarcoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	25326555	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

STIM1 Protein Structure

SAM_2

0
200
400
600
685 a.a.

Protein Preferred Names	Protein Names
stromal interaction molecule 1

STIM1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	STIM1	Q13586	MAPRE1	Homo sapiens	Q15691	Pull Down	19632184
Intra	STIM1	Q13586	ORAI1	Homo sapiens	Q96D31	Anti Bait CoIP	30481768
Intra	STIM1	Q13586	ORAI1	Homo sapiens	Q96D31	Pull Down	20418871
Intra	STIM1	Q13586	ORAI1	Homo sapiens	Q96D31	IF	21427704
Intra	STIM1	Q13586	ORAI1	Homo sapiens	Q96D31	Anti Tag CoIP	19249086
Intra	STIM1	Q13586	ORAI1	Homo sapiens	Q96D31	Confocal	19249086
Intra	STIM1	Q13586	ORAI1	Homo sapiens	Q96D31	Anti Bait CoIP	21876174
Intra	STIM1	Q13586	ORAI1	Homo sapiens	Q96D31	IF	22464749
Intra	STIM1	Q13586	ORAI1	Homo sapiens	Q96D31	Anti Tag CoIP	22451904
Intra	STIM1	Q13586	ORAI1	Homo sapiens	Q96D31	IF	24996186
Intra	STIM1	Q13586	ORAI1	Homo sapiens	Q96D31	Anti Tag CoIP	24996186
Intra	STIM1	Q13586	ORAI1	Homo sapiens	Q96D31	Anti Bait CoIP	24954132
Intra	STIM1	Q13586	EFHB	Homo sapiens	Q8N7U6	Anti Bait CoIP	30481768
Intra	STIM1	Q13586	STIM1	Homo sapiens	Q13586	GMS	21427704
Intra	STIM1	Q13586	STIM1	Homo sapiens	Q13586	GMS	19249086
Intra	STIM1	Q13586	STIM1	Homo sapiens	Q13586	Pull Down	20418871
Intra	STIM1	Q13586	STIM1	Homo sapiens	Q13586	FRET	21427704
Intra	STIM1	Q13586	STIM1	Homo sapiens	Q13586	FRET	17517596
Intra	STIM1	Q13586	STIM2	Homo sapiens	Q9P246	Anti Tag CoIP	33961781
Intra	STIM1	Q13586	STIM2	Homo sapiens	Q9P246	Anti Bait CoIP	11463338
Intra	STIM1	Q13586	STIM2	Homo sapiens	Q9P246	Anti Tag CoIP	35271311
Intra	STIM1	Q13586	RABAC1	Homo sapiens	Q9UI14	Validated Y2H	32296183
Intra	STIM1	Q13586	SARAF	Homo sapiens	Q96BY9	IF	22464749
Intra	STIM1	Q13586	SARAF	Homo sapiens	Q96BY9	Anti Bait CoIP	30481768
Intra	STIM1	Q13586	INSIG2	Homo sapiens	Q9Y5U4	Validated Y2H	32296183
Intra	STIM1	Q13586	TRPC1	Homo sapiens	P48995	Anti Bait CoIP	19897728
Intra	STIM1	Q13586	PDIA3	Homo sapiens	P30101	BRET	21941299
Cross	STIM1	Q13586	CALM	Bos taurus	P62157	NMR	18484746

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant STIM1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P74536	STIM1 Protein, Human (HEK293, His)	Q13586/NP_003147.2(L23-D213)	≥ 95%, as determined by reducing SDS-PAGE.

STIM1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82347	Stromal Interaction Molecule 1 Antibody (YA2092)	WB	Human, Mouse, Rat
HY-P82347A	Stromal Interaction Molecule 1 Antibody (YA2092)(PBS only)	WB	Human, Mouse, Rat
HY-P86530	Stromal Interaction Molecule 1 Antibody (YA6222)	WB, IHC-P, ICC/IF, IP, ELISA	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Stormorken Syndrome	Thrombocytopathy, Asplenia, And Miosis Stormorken-Sjaastad-Langslet Syndrome STRMK York Platelet Syndrome Yps Thrombocytopathy, Asplenia And Miosis Thrombocytopathy Asplenia Miosis Thrombocytopathy-Asplenia-Miosis Syndrome Miosis Disorder
Immunodeficiency 10	Immune Dysfunction With T-Cell Inactivation Due To Calcium Entry Defect 2 Combined Immunodeficiency Due To Stim1 Deficiency IMD10 Stim1 Deficiency Cid Due To Stim1 Deficiency Immune Dysfunction, With T-Cell Inactivation Due To Calcium Entry Defect 2 Immunodeficiency, Type 10
Myopathy, Tubular Aggregate, 1	Tubular Aggregate Myopathy Tam Myopathy With Tubular Aggregates TAM1 Myopathy, Tubular Aggregate Tubular Aggregate Myopathy 1
Kaposi Sarcoma	Kaposi'S Sarcoma Kaposi Sarcoma, Susceptibility To Kaposi'S Sarcoma Of Lung Kaposi'S Sarcoma Of Palate Kaposi'S Sarcoma Of Soft Tissue Kaposi'S Sarcoma-Associated Herpesvirus Multiple Idiopathic Pigmented Hemangiosarcoma Multiple Idiopathic Pigmented Hemangiosarcoma, Susceptibility To African Lymphadenopathic Kaposi'S Sarcoma Anal Kaposi'S Sarcoma Cardiac Kaposi'S Sarcoma Central Nervous System Kaposi'S Sarcoma Conjunctival Kaposi'S Sarcoma Corneal Kaposi'S Sarcoma Cutaneous Kaposi'S Sarcoma Esophageal Kaposi'S Sarcoma Gallbladder Kaposi'S Sarcoma Gastric Kaposi'S Sarcoma Intestinal Kaposi'S Sarcoma Kaposi'S Sarcoma Of Anus Kaposi'S Sarcoma Of Central Nervous System Kaposi'S Sarcoma Of Conjunctiva Kaposi'S Sarcoma Of Cornea Kaposi'S Sarcoma Of Esophagus Kaposi'S Sarcoma Of Gastrointestinal Sites Kaposi'S Sarcoma Of Heart Kaposi'S Sarcoma Of Lymph Nodes Kaposi'S Sarcoma Of Penis Kaposi'S Sarcoma Of Skin Kaposi'S Sarcoma Of Soft Tissues Kaposi'S Sarcoma Of The Cns Kaposi'S Sarcoma Of The Gallbladder Kaposi'S Sarcoma Of The Prostate Kaposi'S Sarcoma, Lung Kaposi'S Sarcoma, Skin Lymph Node Kaposi'S Sarcoma Lymphadenopathic Kaposi'S Sarcoma Palate Kaposi'S Sarcoma Penis Kaposi'S Sarcoma Prostate Kaposi'S Sarcoma Pulmonary Kaposi'S Sarcoma Soft Tissue Kaposi'S Sarcoma Hhv8 Human Herpesvirus 8 Kshv Kaposi Sarcoma Herpesvirus Mediterranean Kaposi Sarcoma Non Aids Related Kaposi Sarcoma Sarcoma, Kaposi Sarcoma, Kaposi, Susceptibility To Non-Aids-Related Kaposi Sarcoma Angiolymphoid Hyperplasia Angiofollicular Ganglionic Hyperplasia Multi-Centric Castleman'S Disease
Rhabdomyosarcoma
T Cell And Nk Cell Immunodeficiency
Rhabdoid Cancer	Rhabdoid Tumor Malignant Rhabdoid Tumor Malignant Rhabdoid Tumour Rhabdoid Sarcoma Rhabdoid Tumor Predisposition Syndrome 1 Rhabdoid Tumor Predisposition Syndrome 2 Atypical Teratoid Rhabdoid Tumor Brain Tumor, Posterior Fossa, Of Infancy, Familial Atypical Teratoid/Rhabdoid Tumor
Myopathy	Muscular Diseases Myopathies
Breast Fibrosarcoma	Fibrosarcoma Of The Breast
Amelogenesis Imperfecta, Type Iiia	Ai3 Adhcai Amelogenesis Imperfecta Type 3 AI3A Amelogenesis Imperfecta, Type Iii Amelogenesis Imperfecta, Hypocalcification Type, Autosomal Dominant Amelogenesis Imperfecta Type 3a Amelogenesis Imperfecta Hypomineralization Type Amelogenesis Imperfecta Type Iii Hypocalcified Amelogenesis Imperfecta Amelogenesis Imperfecta, Type 3 Amelogenesis Imperfecta, Hypomineralization Type Autosomal Dominant Amelogenesis Imperfecta Hypocalcification Type Amelogenesis Imperfecta 3a Amelogenesis Imperfecta Hypocalcification Type Autosomal Dominant
Immunodeficiency 9	Immune Dysfunction With T-Cell Inactivation Due To Calcium Entry Defect 1 Combined Immunodeficiency Due To Orai1 Deficiency IMD9 Cid Due To Orai1 Deficiency Severe Combined Immunodeficiency Due To Crac Channel Dysfunction Immunodeficiency, Type 9
Thrombocytopenia	Low Platelet Count Low Platelets Decreased Platelets Platelet Dysfunction Nos
Ectodermal Dysplasia	Congenital Ectodermal Defect Congenital Ectodermal Dysplasia Ectodermal Dysplasia Syndrome Dysplasia, Ectodermal
Sarcoma	Connective And Soft Tissue Neoplasm Tumor Of Soft Tissue And Skeleton Sarcomas Sarcoma - Category
Ichthyosis	Ichthyoses Non-Syndromic Ichthyosis Congenital Ichthyosis
Beckwith-Wiedemann Syndrome	Wiedemann-Beckwith Syndrome BWS Exomphalos-Macroglossia-Gigantism Syndrome Emg Syndrome Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation Emg Abnormality Wbs Exomphalos Macroglossia Gigantism Syndrome Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation Macroglossia Exomphalos Gigantism
Hemolytic Anemia	Anemia, Hemolytic Anemia Hemolytic Anaemia Due To Other Disorders Of Glutathione Metabolism Chronic Non Spherocytic Anaemia G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia Favism Anaemia Haemolytic Anaemia Due Tog6pd Deficiency Favism Pentose Phosphate Pathway Disorder Anaemia Anaemia Due To Pentose Phosphate Pathway Defect
Anhidrosis	Hypohidrosis Absence Of Sweating Adiaphoresis Impaired Sweating Oligohidrosis
Brugada Syndrome 4	BRGDA4 Brugada Syndrome, Type 4
Anemia, Autoimmune Hemolytic	Autoimmune Hemolytic Anemia Idiopathic Autoimmune Hemolytic Anemia Immuno-Hemolytic Anemia Anemia, Hemolytic, Autoimmune Autoimmune Haemolytic Anaemia Autoimmune Hemolytic Anaemia Acquired Autoimmune Hemolytic Anemia Anemia Hemolytic Autoimmune Familial Auto-Immune Hemolytic Anemia Aha Aiha
Combined Immunodeficiency	Combined T Cell And B Cell Immunodeficiency Congenital Combined Immunodeficiency Syndrome With Combined Immunodeficiency Combined T And B Cell Immunodeficiency Combined Immunity Deficiency Combined Immunodeficiency Syndrome Combined T-Cell And B-Cell Immunodeficiency Lymphopenic Agammaglobulinaemia
Muscular Dystrophy	Muscular Dystrophies Congenital Md Congenital Muscular Dystrophy Cmd Mdc Dystrophy, Muscular Gower'S Muscular Dystrophy Progressive Musclular Dystrophy Pseudohypertrophic Atrophy Pseudohypertrophic Muscle Paralysis Pseudohypertrophic Muscular Atrophy Pseudohypertrophic Muscular Dystrophy Pseudohypertrophic Paralysis Pseudomuscular Hypertrophy
Breast Cancer	Breast Carcinoma Male Breast Cancer Breast Cancer, Familial Malignant Neoplasm Of Breast Breast Cancer, Susceptibility To Breast Cancer, Early-Onset Malignant Tumor Of Breast Carcinoma Of Male Breast Breast Cancer, Invasive Ductal Breast Cancer, Protection Against Breast Cancer, Somatic Breast Cancer, Male Breast Cancer, Lobular, Somatic Breast Tumor Mammary Cancer Mammary Tumor Malignant Neoplasm Of Male Breast Mammary Carcinoma Male Breast Carcinoma Familial Cancer Of Breast Invasive Ductal Breast Carcinoma Breast Cancer Susceptibility Breast Cancer, Male, Susceptibility To Breast Cancer, Early-Onset, Susceptibility To Malignant Tumor Of The Breast Mammary Neoplasm Primary Breast Cancer Neoplasm Of Male Breast Carcinoma Of Breast Breast Cancer In Men Familial Breast Cancer Cancer Of Breast BC Breast Cancer Familial Breast Cancer Familial Male Breast Cancer, Familial Male Breast Male Carcinoma Breast Neoplasms Breast Neoplasms, Male Mammary Tumors Mammary Carcinomas Cancer, Breast Cancer, Breast, Susceptibility Invasive Breast Ductal Carcinoma Breast Neoplasm Susceptibility To Breast Cancer Mammary Neoplasms Animal Mammary Neoplasms Primary Malignant Neoplasm Of Breast Infiltrating Ductal Carcinoma Of Breast Infiltrating Duct Carcinoma Of Unspecified Site Infiltrating Ductular Carcinoma Of Unspecified Site Invasive Breast Carcinoma Of No Special Type Microinvasive Carcinoma Of Breast Carcinoma With Apocrine Differentiation
Malignant Hyperthermia	Anesthesia Related Hyperthermia Malignant Hyperpyrexia Due To Anesthesia Hyperpyrexia, Malignant Hyperthermia, Malignant Malignant Hyperpyrexia Mhs Malignant Fever
Severe Combined Immunodeficiency	Scid Severe Combined Immunodeficiency Disease Combined T And B Cell Inborn Immunodeficiency Immunodeficiency, Severe Combined Scid - [Severe Combined Immunodeficiencies]
Congenital Myasthenic Syndrome	Congenital Myasthenia Congenital Myasthenic Syndromes Cms Myasthenic Syndromes, Congenital Myasthenic Syndromes Congenital Myasthenic Syndrome, Congenital Congenital Myasthenic Syndrome Ib Congenital And Developmental Myasthenia Developmental Myasthenia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-101942	Zegocractin	Inhibitor	99.96%	Phase 2

Pre-clinical Phase

Bioactive Molecules (17)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-100001	SKF-96365 (hydrochloride)		99.93%	Unkown
HY-100932	ML-9	Inhibitor	99.86%	Unkown
HY-19408	Pyr10	Inhibitor	99.95%	Unkown
HY-N1353	Rhamnocitrin	Inhibitor	99.67%	Unkown
HY-113618B	RO2959 monohydrochloride	Inhibitor	98.03%	Unkown
HY-W099504	1-Heptanol		99.92%	Unkown
HY-125942	SKF-96365		99.97%	Unkown
HY-RS13913	STIM1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-158990	GE1111		95.73%	Unkown
HY-113618A	RO2959 hydrochloride	Inhibitor	99.12%	Unkown
HY-100932A	ML-9 Free Base	Inhibitor	/	Unkown
HY-103071	GSK-5503A	Inhibitor	/	Unkown
HY-181953	STIM1-TFR1-IN-1	Inhibitor	/	Unkown
HY-W099504S	1-Heptanol-d15		99.05%	Unkown
HY-W099504S1	1-Heptanol-d7		/	Unkown
HY-RS16865	Stim1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23306	Stim1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	STIM1	MGD	MGI:107476
Canis familiaris	STIM1	VGNC	VGNC:46901
Bos taurus	STIM1	VGNC	VGNC:35383
Macaca mulatta	STIM1	VGNC	VGNC:77911
Rattus norvegicus	STIM1	RGD	RGD:1306831
Felis catus	STIM1	VGNC	VGNC:65772
Others	STIM1	NCBI