2. Gene
  3. SLC25A30 - solute carrier family 25 member 30 Gene

SLC25A30 - solute carrier family 25 member 30 Gene

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

中文名称：溶质载体家族 25 成员 30

种属: Homo sapiens

同用名: KMCP1

基因 ID: 253512 | 基因类型: protein coding

关于 SLC25A30

Cytogenetic location: 13q14.13 Genomic coordinates (GRCh38): 13:45,393,316-45,434,016 (from NCBI)

This gene has 8 transcripts (splice variants), 178 orthologues and 49 paralogues. Broad expression in heart (RPKM 22.8), kidney (RPKM 18.0) and 24 other tissues.

功能概要

尽管线粒体外膜可渗透许多小代谢物，但溶质穿过线粒体内膜的转运是由线粒体载体蛋白家族的成员实现的，例如 SLC25A30 (Haguenauer 等人，2005 [PubMed 15809292]) 。[由提供 OMIM，2008 年 3 月]

Although the outer mitochondrial membrane is permeable to many small metabolites, transport of solutes across the inner mitochondrial membrane is achieved by members of the mitochondrial carrier protein family, such as SLC25A30 (Haguenauer et al., 2005 [PubMed 15809292]).[supplied by OMIM, Mar 2008]

SLC25A30 基因产物(3)

mRNA Protein Name
NM_001010875.4 NP_001010875.1 kidney mitochondrial carrier protein 1 isoform 1
NM_001286806.2 NP_001273735.1 kidney mitochondrial carrier protein 1 isoform 2
NM_001286807.2 NP_001273736.1 kidney mitochondrial carrier protein 1 isoform 3
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
26387735 GOA
enables solute:inorganic anion antiporter activity IDA
IDA: 通过直接分析推断
31356773 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in inorganic anion transport IDA
IDA: 通过直接分析推断
31356773 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

SLC25A30 蛋白结构

Mito_carr

Mito_carr: Mitochondrial carrier protein (6 - 99)

Mito_carr

Mito_carr: Mitochondrial carrier protein (105 - 190)

Mito_carr

Mito_carr: Mitochondrial carrier protein (199 - 289)

  • 0
  • 100
  • 200
  • 291 a.a.
蛋白主名 其他名称

kidney mitochondrial carrier protein 1

关联疾病

疾病名称 别名
Chromosome 22q11.2 Deletion Syndrome, Distal

22q11.2 Deletion Syndrome

Autosomal Dominant Opitz G/Bbb Syndrome

Catch22

Cayler Cardiofacial Syndrome

Conotruncal Anomaly Face Syndrome

Digeorge Syndrome

Sedlackova Syndrome

Shprintzen Syndrome

Velocardiofacial Syndrome

22q11.2 Distal Deletion Syndrome

Distal 22q11.2 Microdeletion Syndrome

22q11.2ds

Vcfs

Velo-Cardio-Facial Syndrome

Distal Chromosome 22q11.2 Deletion Syndrome

Chromosome 22q11.2 Deletion Syndrome Distal

Chromosome 22q11.2 Deletion Syndrome

Deletion 22q11.2 Syndrome

22q11ds

Catch 22

Digeorge Sequence

Microdeletion 22q11.2

Monosomy 22q11

Takao Syndrome

Distal Del(22)(Q11.2)

Distal Monosomy 22q11.2

Catch 22 Syndrome

Chromosome Deletion Syndrome 22q11.2, Distal
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-RS13112 SLC25A30 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus SLC25A30 RGD RGD:1359702
Bos taurus SLC25A30 VGNC VGNC:34756
Macaca mulatta SLC25A30 VGNC VGNC:106297
Canis familiaris SLC25A30 VGNC VGNC:46304
Felis catus SLC25A30 VGNC VGNC:65268
Mus musculus SLC25A30 MGD MGI:1914804
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