1. Gene
  2. SLC25A25 - solute carrier family 25 member 25 Gene

SLC25A25 - solute carrier family 25 member 25 Gene

中文名称:溶质载体家族 25 成员 25

种属: Homo sapiens

同用名: MCSC; PCSCL; SCAMC2; SCAMC-2

基因 ID: 114789 | 基因类型: protein coding

关于 SLC25A25

Cytogenetic location: 9q34.11 Genomic coordinates (GRCh38): 9:128,068,232-128,109,245 (from NCBI)

This gene has 12 transcripts (splice variants), 285 orthologues and 49 paralogues. Ubiquitous expression in liver (RPKM 17.5), gall bladder (RPKM 17.0) and 25 other tissues.

功能概要

该基因编码的蛋白质属于钙结合线粒体载体家族,在 C 端具有特征性线粒体载体结构域。这些蛋白质存在于线粒体的内膜中,起着转运蛋白的作用。它们通过线粒体膜运送代谢物、核苷酸和辅助因子,从而连接和/或调节细胞质和基质功能。这种蛋白质可能作为 ATP-Mg/Pi 载体发挥作用,介导 Mg-ATP 的转运以交换磷酸盐,并且可能负责腺嘌呤核苷酸进出线粒体的净摄取或流出。已针对该基因描述了编码具有共同 C 末端但可变 N 末端的不同亚型的可变剪接转录物变体。[RefSeq 提供,2012 年 7 月]

The protein encoded by this gene belongs to the family of calcium-binding mitochondrial carriers, with a characteristic mitochondrial carrier domain at the C-terminus. These proteins are found in the inner membranes of mitochondria, and function as transport proteins. They shuttle metabolites, nucleotides and cofactors through the mitochondrial membrane and thereby connect and/or regulate cytoplasm and matrix functions. This protein may function as an ATP-Mg/Pi carrier that mediates the transport of Mg-ATP in exchange for phosphate, and likely responsible for the net uptake or efflux of adenine nucleotides into or from the mitochondria. Alternatively spliced transcript variants encoding different isoforms with a common C-terminus but variable N-termini have been described for this gene. [provided by RefSeq, Jul 2012]

SLC25A25 基因产物(6)

mRNA Protein Name
NM_001006641.4 NP_001006642.1 calcium-binding mitochondrial carrier protein SCaMC-2 isoform b
NM_001006642.4 NP_001006643.1 calcium-binding mitochondrial carrier protein SCaMC-2 isoform c precursor
NM_001265614.3 NP_001252543.1 calcium-binding mitochondrial carrier protein SCaMC-2 isoform 5 precursor
NM_001330988.2 NP_001317917.1 calcium-binding mitochondrial carrier protein SCaMC-2 isoform e
NM_001387057.1 NP_001373986.1 calcium-binding mitochondrial carrier protein SCaMC-2 isoform f
NM_052901.5 NP_443133.2 calcium-binding mitochondrial carrier protein SCaMC-2 isoform a

SLC25A25 蛋白结构

EF-hand_8

EF-hand_8: EF-hand domain pair (55 - 78)

EF-hand_7

EF-hand_7: EF-hand domain pair (83 - 141)

Mito_carr

Mito_carr: Mitochondrial carrier protein (186 - 272)

Mito_carr

Mito_carr: Mitochondrial carrier protein (278 - 364)

Mito_carr

Mito_carr: Mitochondrial carrier protein (375 - 464)

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  • 469 a.a.
蛋白主名 其他名称

calcium-binding mitochondrial carrier protein SCaMC-2

mitochondrial ATP-Mg/Pi carrier protein 3

关联疾病

疾病名称 别名
Nephrolithiasis

Kidney Stones

Stone - Kidney/Ureter

Kidney Calculi

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
Felis catus SLC25A25 VGNC VGNC:65266
Canis familiaris SLC25A25 VGNC VGNC:46301
Mus musculus SLC25A25 MGD MGI:1915913
Rattus norvegicus SLC25A25 RGD RGD:628666
Bos taurus SLC25A25 VGNC VGNC:34751
Macaca mulatta SLC25A25 VGNC VGNC:77531