2. Gene
  3. ABCB8 - ATP binding cassette subfamily B member 8 Gene

ABCB8 - ATP binding cassette subfamily B member 8 Gene

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

中文名称：ATP 结合盒亚家族 B 成员 8

种属: Homo sapiens

同用名: MABC1; M-ABC1; MITOSUR; EST328128

基因 ID: 11194 | 基因类型: protein coding

关于 ABCB8

Cytogenetic location: 7q36.1 Genomic coordinates (GRCh38): 7:151,028,450-151,047,782 (from NCBI)

This gene has 22 transcripts (splice variants), 201 orthologues and 10 paralogues. Ubiquitous expression in testis (RPKM 5.6), endometrium (RPKM 5.4) and 25 other tissues.

功能概要

该核基因编码靶向线粒体内膜的多通道膜蛋白。编码的蛋白质是一种 ATP 依赖性转运蛋白，可介导有机和无机分子从线粒体中通过。小鼠相关基因功能的丧失导致线粒体和胞质溶胶之间铁稳态的破坏。可变剪接导致多个转录本变体。[RefSeq 提供，2013 年 8 月]

This nuclear gene encodes a multi-pass membrane protein that is targeted to the mitochondrial inner membrane. The encoded protein is an ATP-dependent transporter that may mediate the passage of organic and inorganic molecules out of the mitochondria. Loss of function of the related gene in mouse results in a disruption of iron homeostasis between the mitochondria and cytosol. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

ABCB8 基因产物(4)

mRNA Protein Name
NM_001282291.2 NP_001269220.1 mitochondrial potassium channel ATP-binding subunit isoform a
NM_001282292.2 NP_001269221.1 mitochondrial potassium channel ATP-binding subunit isoform c
NM_001282293.2 NP_001269222.1 mitochondrial potassium channel ATP-binding subunit isoform d
NM_007188.5 NP_009119.2 mitochondrial potassium channel ATP-binding subunit isoform b
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 ATP binding IDA
IDA: 通过直接分析推断
31435016 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
25063848 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cell volume homeostasis IDA
IDA: 通过直接分析推断
31435016 GOA
involved in mitochondrial potassium ion transmembrane transport IDA
IDA: 通过直接分析推断
31435016 GOA
involved in potassium ion transmembrane transport IDA
IDA: 通过直接分析推断
31435016 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of mitochondrial ATP-gated potassium channel complex IDA
IDA: 通过直接分析推断
31435016 GOA
part of mitochondrial ATP-gated potassium channel complex IPI
IPI: 通过物理相互作用推断
31435016 GOA
located in mitochondrial inner membrane IDA
IDA: 通过直接分析推断
3145016 GOA
located in mitochondrial membrane IDA
IDA: 通过直接分析推断
9878413 GOA
located in mitochondrion IDA
IDA: 通过直接分析推断
22655043 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

ABCB8 蛋白结构

ABC_membrane

ABC_membrane: ABC transporter transmembrane region (151 - 423)

ABC_tran

ABC_tran: ABC transporter (490 - 640)

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

mitochondrial potassium channel ATP-binding subunit

ATP-binding cassette sub-family B member 8, mitochondrial

ABCB8 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
ABCB8 Q9NUT2 CCDC51 Homo sapiens Q96ER9
Anti Bait CoIP
31435016
种属内
ABCB8 Q9NUT2 CCDC51 Homo sapiens Q96ER9
BN-PAGE
31435016
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Anemia, Sideroblastic, And Spinocerebellar Ataxia

X-Linked Sideroblastic Anemia With Ataxia

ASAT

X-Linked Sideroblastic Anemia And Ataxia

X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia

Anemia, Sideroblastic, With Ataxia

Anemia Sideroblastic And Spinocerebellar Ataxia

Pagon Bird Detter Syndrome

Pagon-Bird-Detter Syndrome

Xlsa-A

X-Linked Sideroblastic Anaemia And Ataxia

X-Linked Sideroblastic Anaemia With Ataxia

Sideroblastic Anemia With Spinocerebellar Ataxia

Xlsa/A

Anemia, Sideroblastic, Spinocerebellar Ataxia

Sideroblastic Anemia And Ataxia

Anemia Sideroblastic, And Spinocerebellar Ataxia
Acheiropody

Acheiropodia

ACHP

Acheiropody, Brazilian Type

Horn-Kolb Syndrome

Horn Kolb Syndrome

Acheiropody Brazilian Type
Tick Infestation

Tick Infestations
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 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS00055 ABCB8 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta ABCB8 VGNC VGNC:81284
Canis familiaris ABCB8 VGNC VGNC:37436
Felis catus ABCB8 VGNC VGNC:69336
Mus musculus ABCB8 MGD MGI:1351667
Rattus norvegicus ABCB8 RGD RGD:1307655
Bos taurus ABCB8 VGNC VGNC:25466
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