2. Gene
  3. MICU1 - mitochondrial calcium uptake 1 Gene

MICU1 - mitochondrial calcium uptake 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：线粒体钙摄取 1

种属: Homo sapiens

同用名: CALC; EFHA3; MPXPS; CBARA1; ara CALC

基因 ID: 10367 | 基因类型: protein coding

关于 MICU1

Cytogenetic location: 10q22.1 Genomic coordinates (GRCh38): 10:72,367,340-72,626,079 (from NCBI)

This gene has 11 transcripts (splice variants), 211 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in kidney (RPKM 30.5), adrenal (RPKM 20.9) and 25 other tissues.

功能概要

该基因编码基础条件下线粒体 Ca2+ 摄取的重要调节因子。编码的蛋白质与线粒体钙单向转运蛋白 (线粒体内膜 Ca2+ 通道) 相互作用，对于防止线粒体 Ca2+ 超载至关重要，后者会导致活性氧物质的过度产生和细胞应激。已经描述了编码不同亚型的选择性剪接转录物变体。[RefSeq 提供，2013 年 3 月]

This gene encodes an essential regulator of mitochondrial Ca2+ uptake under basal conditions. The encoded protein interacts with the mitochondrial calcium uniporter, a mitochondrial inner membrane Ca2+ channel, and is essential in preventing mitochondrial Ca2+ overload, which can cause excessive production of Reactive Oxygen Species and cell stress. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2013]

MICU1 基因产物(4)

mRNA Protein Name
NM_001195518.2 NP_001182447.1 calcium uptake protein 1, mitochondrial isoform 2
NM_001195519.2 NP_001182448.1 calcium uptake protein 1, mitochondrial isoform 3
NM_001363513.2 NP_001350442.1 calcium uptake protein 1, mitochondrial isoform 4
NM_006077.4 NP_006068.2 calcium uptake protein 1, mitochondrial isoform 1
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 inhibitor activity IDA
IDA: 通过直接分析推断
32494073 GOA
enables calcium ion binding IDA
IDA: 通过直接分析推断
23101630 GOA
enables calcium ion sensor activity IDA
IDA: 通过直接分析推断
27642082 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
24514027 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
21685886 GOA
enables protein heterodimerization activity IPI
IPI: 通过物理相互作用推断
24560927 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in calcium import into the mitochondrion IDA
IDA: 通过直接分析推断
27642082 GOA
involved in calcium import into the mitochondrion IMP
IMP: 通过突变表型推断
26903221 GOA
involved in calcium ion import IDA
IDA: 通过直接分析推断
20693986 GOA
involved in cellular response to calcium ion IDA
IDA: 通过直接分析推断
32494073 GOA
involved in cellular response to calcium ion starvation IDA
IDA: 通过直接分析推断
32494073 GOA
involved in mitochondrial calcium ion homeostasis IDA
IDA: 通过直接分析推断
32494073 GOA
involved in mitochondrial calcium ion homeostasis IMP
IMP: 通过突变表型推断
20693986 GOA
involved in mitochondrial calcium ion transmembrane transport IDA
IDA: 通过直接分析推断
24560927 GOA
involved in mitochondrial calcium ion transmembrane transport IMP
IMP: 通过突变表型推断
23101630 GOA
involved in positive regulation of cristae formation IDA
IDA: 通过直接分析推断
31427612 GOA
involved in positive regulation of mitochondrial calcium ion concentration IDA
IDA: 通过直接分析推断
24560927 GOA
involved in positive regulation of mitochondrial calcium ion concentration IMP
IMP: 通过突变表型推断
26975899 GOA
involved in protein homooligomerization IDA
IDA: 通过直接分析推断
24514027 GOA
involved in regulation of cellular hyperosmotic salinity response IMP
IMP: 通过突变表型推断
26975899 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrial crista junction IDA
IDA: 通过直接分析推断
31427612 GOA
is active in mitochondrial inner membrane IDA
IDA: 通过直接分析推断
28615291 GOA
located in mitochondrial inner membrane IDA
IDA: 通过直接分析推断
20693986 GOA
located in mitochondrial inner membrane IMP
IMP: 通过突变表型推断
27099988 GOA
located in mitochondrial intermembrane space IDA
IDA: 通过直接分析推断
24231807 GOA
located in mitochondrial membrane IDA
IDA: 通过直接分析推断
23101630 GOA
is active in mitochondrion IDA
IDA: 通过直接分析推断
27642082 GOA
part of uniplex complex IDA
IDA: 通过直接分析推断
24231807 GOA
part of uniplex complex IPI
IPI: 通过物理相互作用推断
32494073 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

MICU1 蛋白结构

EF-hand_5

EF-hand_5: EF hand (226 - 246)

EF-hand_8

EF-hand_8: EF-hand domain pair (397 - 439)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 476 a.a.
蛋白主名 其他名称

calcium uptake protein 1, mitochondrial

atopy-related autoantigen CALC

MICU1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
MICU1 Q9BPX6 MICU1 Homo sapiens Q9BPX6
X-Ray Diffraction
24514027
种属内
MICU1 Q9BPX6 MICU2 Homo sapiens Q8IYU8
Anti Tag CoIP
32494073
种属内
MICU1 Q9BPX6 MICU2 Homo sapiens Q8IYU8
Anti Tag CoIP
33961781
种属内
MICU1 Q9BPX6 MCU Homo sapiens Q8NE86
Anti Tag CoIP
32494073
种属内
MICU1 Q9BPX6 MCU Homo sapiens Q8NE86
Anti Tag CoIP
23101630
种属间: 跨种属相互作用 种属内: 同种属相互作用

MICU1 抗体

目录号 产品名 应用 反应物种
HY-P85734 MICU1 Antibody (YA5426) WB, ICC/IF, IHC-P Human, Mouse, Rat

关联疾病

疾病名称 别名
Myopathy With Extrapyramidal Signs

Proximal Myopathy With Extrapyramidal Signs

MPXPS

Myopathy, With Extrapyramidal Signs
Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder
Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder
Paranasal Sinus Sarcoma

Sarcoma Of Accessory Sinus
Retinitis Pigmentosa 40

RP40

Retinitis Pigmentosa-40

Retinitis Pigmentosa, Type 40
Ptosis

Blepharoptosis

Drooping Eyelid

Droopy Eyelid

Ptosis Of Eyelid

Paralysis Of Levator Palpebrae Superioris
Myopathy

Muscular Diseases

Myopathies
Wolf-Hirschhorn Syndrome

Pitt-Rogers-Danks Syndrome

WHS

Chromosome 4p16.3 Deletion Syndrome

Wittwer Syndrome

4p- Syndrome

Pitt Syndrome

4p Deletion Syndrome

Distal Deletion 4p

Distal Monosomy 4p

Telomeric Deletion 4p

Prds

4p Syndrome

Chromosome 4p Syndrome

Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation

Wolf Syndrome

Chromosome 4p Deletion Syndrome

Chromosome 4p Monosomy

Del Syndrome

Monosomy 4p

Partial Monosomy 4p

Chromosome 4 Short Arm Deletion
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
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

相关产品

Pre-clinical Phase
生物活性分子 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS08431 MICU1 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS19458 Micu1 Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS25951 Micu1 Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris MICU1 VGNC VGNC:43220
Felis catus MICU1 VGNC VGNC:63494
Rattus norvegicus MICU1 RGD RGD:735033
Bos taurus MICU1 VGNC VGNC:31461
Macaca mulatta MICU1 VGNC VGNC:106073
Mus musculus MICU1 MGD MGI:2384909
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