1. Gene
  2. STIM1 - stromal interaction molecule 1 Gene

STIM1 - stromal interaction molecule 1 Gene

中文名称:基质相互作用分子 1

种属: Homo sapiens

同用名: GOK; TAM; TAM1; IMD10; STRMK; D11S4896E

基因 ID: 6786 | 基因类型: protein coding

关于 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.

功能概要

该基因编码一种 1 型跨膜蛋白,该蛋白在细胞内 Ca2+ 储存耗尽后通过存储操作的 Ca2+ 流入通道 (SOC) 的门控介导 Ca2+ 流入。它是位于 11p15.5 印迹基因域的几个基因之一,11p15.5 是一个重要的肿瘤抑制基因区域。该区域的改变与 Beckwith-Wiedemann 综合征、肾母细胞瘤、横纹肌肉瘤、肾上腺皮质癌以及肺癌、卵巢癌和乳腺癌有关。该基因可能通过介导与基质细胞的附着而在涉及该区域的恶性肿瘤和疾病以及早期造血中发挥作用。该基因的突变与致命的经典卡波西肉瘤、由于成纤维细胞钙池操作 (SOCE) 缺陷引起的免疫缺陷、外胚层发育不良和管状聚集性肌病有关。该基因与核糖核苷酸还原酶 1 基因 (RRM1) 呈头对尾排列,该基因的 3' 端距离 RRM1 基因的 5' 端 1.6 kb。该基因的可变剪接导致多个转录变体。[RefSeq 提供,2013 年 5 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables calcium channel regulator activity IDA
IDA: 通过直接分析推断
25326555 GOA
enables calcium channel regulator activity IGI
IGI: 通过遗传相互作用推断
31009446 GOA
enables calcium ion binding IDA
IDA: 通过直接分析推断
16005298 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
17517596 GOA
enables microtubule plus-end binding IDA
IDA: 通过直接分析推断
19632184 GOA
enables protease binding IPI
IPI: 通过物理相互作用推断
25384971 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11463338 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in activation of store-operated calcium channel activity IDA
IDA: 通过直接分析推断
16005298 GOA
involved in detection of calcium ion IDA
IDA: 通过直接分析推断
16005298 GOA
involved in enamel mineralization IMP
IMP: 通过突变表型推断
24621671 GOA
involved in positive regulation of adenylate cyclase activity IDA
IDA: 通过直接分析推断
19171672 GOA
involved in positive regulation of angiogenesis IMP
IMP: 通过突变表型推断
26694763 GOA
involved in regulation of calcium ion transport IDA
IDA: 通过直接分析推断
16005298 GOA
involved in regulation of store-operated calcium entry IMP
IMP: 通过突变表型推断
23332920 GOA
involved in store-operated calcium entry IDA
IDA: 通过直接分析推断
19182790 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cortical endoplasmic reticulum IDA
IDA: 通过直接分析推断
22586105 GOA
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
27185316 GOA
located in endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
16208375 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
16208375 GOA
located in plasma membrane raft IDA
IDA: 通过直接分析推断
19171672 GOA
located in sarcoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
25326555 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

STIM1 蛋白结构

SAM_2

SAM_2: SAM domain (Sterile alpha motif) (131 - 195)

  • 0
  • 200
  • 400
  • 600
  • 685 a.a.
蛋白主名 其他名称

stromal interaction molecule 1

重组 STIM1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P74536 STIM1 Protein, Human (HEK293, His) Q13586/NP_003147.2(L23-D213) ≥95%

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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